#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	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_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_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
NQO2	4835	genome.wustl.edu	37	6	3015829	3015829	+	Silent	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr6:3015829G>A	ENST00000338130.2	+	8	1081	c.369G>A	c.(367-369)caG>caA	p.Q123Q	NQO2_ENST00000380455.4_Silent_p.Q123Q|NQO2_ENST00000380454.4_Intron|NQO2_ENST00000380441.1_Intron|NQO2_ENST00000380430.1_Silent_p.Q123Q			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	123					memory (GO:0007613)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	dihydronicotinamide riboside quinone reductase activity (GO:0001512)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADPH dehydrogenase (quinone) activity (GO:0008753)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Dabigatran etexilate(DB06695)|Flavin adenine dinucleotide(DB03147)|Melatonin(DB01065)|Menadione(DB00170)|Primaquine(DB01087)	TGCTGTGCCAGGGCTTTGCCT	0.547																																																0			6											114.0	107.0	110.0					6																	3015829		2203	4300	6503	2960828	SO:0001819	synonymous_variant	4835			U07736	CCDS4481.1, CCDS75388.1	6p25.2	2012-09-20	2001-11-30	2001-12-07	ENSG00000124588	ENSG00000124588	1.6.5.2		7856	protein-coding gene	gene with protein product		160998	"""NAD(P)H menadione oxidoreductase 2, dioxin-inducible"""	NMOR2		1691923	Standard	XM_005249152		Approved	QR2, DHQV, DIA6	uc003mus.2	P16083	OTTHUMG00000014130	ENST00000338130.2:c.369G>A	6.37:g.3015829G>A			2960828	B2R492|Q5TD04	Silent	SNP	HMMPfam_Flavodoxin_2,superfamily_Flavoproteins	p.Q123	ENST00000338130.2	37	c.369	CCDS4481.1	6																																																																																			-	HMMPfam_Flavodoxin_2,superfamily_Flavoproteins		0.547	NQO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NQO2	protein_coding	OTTHUMT00000039651.1	G			2960828	+1	no_errors	NM_000904	genbank	human	validated	54_36p	silent	SNP	0.870	A
DLGAP1	9229	genome.wustl.edu	37	18	3879421	3879421	+	Silent	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr18:3879421G>A	ENST00000315677.3	-	4	1243	c.648C>T	c.(646-648)caC>caT	p.H216H	DLGAP1_ENST00000581527.1_Silent_p.H216H|DLGAP1_ENST00000584874.1_Silent_p.H216H|DLGAP1_ENST00000515196.2_Silent_p.H216H|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	216					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCGAGGGGGCGTGGTAGATGC	0.677																																																0			18											76.0	83.0	81.0					18																	3879421		2203	4299	6502	3869421	SO:0001819	synonymous_variant	9229			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.648C>T	18.37:g.3879421G>A			3869421	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	HMMPfam_GKAP	p.H216	ENST00000315677.3	37	c.648	CCDS11836.1	18																																																																																			-	NULL		0.677	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	protein_coding	OTTHUMT00000254394.4	G			3869421	-1	no_errors	NM_004746	genbank	human	provisional	54_36p	silent	SNP	1.000	A
TRIM5	85363	genome.wustl.edu	37	11	5699665	5699665	+	Splice_Site	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr11:5699665C>T	ENST00000380034.3	-	4	770		c.e4-1		TRIM5_ENST00000305836.5_Splice_Site|TRIM5_ENST00000380027.1_Splice_Site|TRIM5_ENST00000396855.3_Splice_Site|TRIM5_ENST00000396847.3_Splice_Site|TRIM5_ENST00000483835.1_Splice_Site|TRIM5_ENST00000396853.4_Splice_Site	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5						activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GTATTTGAGTCTTCAGAGATA	0.483																																																0			11											77.0	78.0	78.0					11																	5699665		2201	4297	6498	5656241	SO:0001630	splice_region_variant	85363			AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.514-1G>A	11.37:g.5699665C>T			5656241	A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Splice_Site	SNP	-	e3-1	ENST00000380034.3	37	c.514-1	CCDS31393.1	11	.	.	.	.	.	.	.	.	.	.	c	12.65	2.001764	0.35320	.	.	ENSG00000132256	ENST00000396855;ENST00000305836;ENST00000380034;ENST00000380027;ENST00000396847;ENST00000438025;ENST00000396853;ENST00000412903	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9245	0.63955	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIM5	5656241	0.927000	0.31430	0.139000	0.22197	0.010000	0.07245	3.300000	0.51834	2.559000	0.86315	0.651000	0.88453	.	-	-		0.483	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM5	protein_coding	OTTHUMT00000143360.3	C	NM_033034	Intron	5656241	-1	no_errors	NM_033034	genbank	human	reviewed	54_36p	splice_site	SNP	0.249	T
CRMP1	1400	genome.wustl.edu	37	4	5868450	5868450	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr4:5868450T>C	ENST00000397890.2	-	2	287	c.73A>G	c.(73-75)Atc>Gtc	p.I25V	CRMP1_ENST00000512574.1_Missense_Mutation_p.I23V|CRMP1_ENST00000324989.7_Missense_Mutation_p.I139V|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	25					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TCATCGTTGATGATCCGTCCA	0.438																																																0			4											136.0	116.0	123.0					4																	5868450		2203	4300	6503	5919351	SO:0001583	missense	1400			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.73A>G	4.37:g.5868450T>C	ENSP00000380987:p.Ile25Val		5919351	A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	superfamily_Metalo_hydrolase,HMMPfam_Amidohydro_1,superfamily_SSF51556	p.I139V	ENST00000397890.2	37	c.415	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	T	1.703	-0.500974	0.04261	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.81739	-1.51;-1.53;-1.53	3.96	1.51	0.23008	Metal-dependent hydrolase, composite domain (1);	0.285643	0.34411	N	0.003992	T	0.43255	0.1239	N	0.00864	-1.135	0.37057	D	0.89789	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47983	-0.9074	10	0.02654	T	1	-16.7559	6.4947	0.22136	0.0:0.2935:0.0:0.7065	.	139;23;25	A0EJG6;E9PD68;Q14194	.;.;DPYL1_HUMAN	V	139;25;25;23	ENSP00000321606:I139V;ENSP00000380987:I25V;ENSP00000425742:I23V	ENSP00000321606:I139V	I	-	1	0	CRMP1	5919351	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	2.814000	0.48010	0.139000	0.18822	0.460000	0.39030	ATC	-	superfamily_Metalo_hydrolase		0.438	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	protein_coding	OTTHUMT00000358871.1	T	NM_001313		5919351	-1	no_errors	NM_001014809	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
KDM4C	23081	genome.wustl.edu	37	9	7013853	7013853	+	Silent	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr9:7013853G>A	ENST00000381309.3	+	14	2599	c.2034G>A	c.(2032-2034)tcG>tcA	p.S678S	KDM4C_ENST00000381306.3_Silent_p.S678S|KDM4C_ENST00000543771.1_Silent_p.S678S|KDM4C_ENST00000535193.1_Silent_p.S700S|KDM4C_ENST00000442236.2_Silent_p.S423S|KDM4C_ENST00000536108.1_Silent_p.S497S|KDM4C_ENST00000428870.2_Silent_p.S365S	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	678					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TCGTTACATCGGAGGGAAAGA	0.383																																																0			9											121.0	116.0	117.0					9																	7013853		2203	4300	6503	7003853	SO:0001819	synonymous_variant	23081			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2034G>A	9.37:g.7013853G>A			7003853	B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	HMMSmart_SM00545,HMMPfam_JmjN,HMMSmart_SM00558,HMMPfam_JmjC,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD,HMMSmart_SM00333,superfamily_Tudor/PWWP/MBT	p.S678	ENST00000381309.3	37	c.2034	CCDS6471.1	9																																																																																			-	NULL		0.383	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD2C	protein_coding	OTTHUMT00000051692.1	G	NM_015061		7003853	+1	no_errors	NM_015061	genbank	human	reviewed	54_36p	silent	SNP	0.000	A
NLRP14	338323	genome.wustl.edu	37	11	7079616	7079616	+	Silent	SNP	T	T	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr11:7079616T>A	ENST00000299481.4	+	8	2914	c.2568T>A	c.(2566-2568)ggT>ggA	p.G856G		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	856					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGTCTTGGGTGATGGTGGAG	0.418																																																0			11											199.0	168.0	179.0					11																	7079616		2201	4296	6497	7036192	SO:0001819	synonymous_variant	338323			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2568T>A	11.37:g.7079616T>A			7036192	Q7RTR6	Silent	SNP	superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047	p.G856	ENST00000299481.4	37	c.2568	CCDS7776.1	11																																																																																			-	superfamily_SSF52047		0.418	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	protein_coding	OTTHUMT00000384551.1	T	NM_176822		7036192	+1	no_errors	NM_176822	genbank	human	reviewed	54_36p	silent	SNP	0.868	A
TP53	7157	genome.wustl.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	17	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151.0	112.0	125.0					17																	7577539		2203	4300	6503	7518264	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		7518264	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	-	HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7518264	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SEMA5A	9037	genome.wustl.edu	37	5	9043076	9043076	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr5:9043076G>A	ENST00000382496.5	-	23	3823	c.3158C>T	c.(3157-3159)cCa>cTa	p.P1053L	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1053					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGTGAGATGTGGGTTGAAGTA	0.333																																																0			5											216.0	211.0	213.0					5																	9043076		2203	4300	6503	9096076	SO:0001583	missense	9037			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.3158C>T	5.37:g.9043076G>A	ENSP00000371936:p.Pro1053Leu		9096076	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1	p.P1053L	ENST00000382496.5	37	c.3158	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001857	0.35320	.	.	ENSG00000112902	ENST00000382496	T	0.36340	1.26	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.46814	0.1412	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.13791	-1.0496	10	0.16896	T	0.51	.	15.1536	0.72723	0.0:0.0:1.0:0.0	.	1053	Q13591	SEM5A_HUMAN	L	1053	ENSP00000371936:P1053L	ENSP00000371936:P1053L	P	-	2	0	SEMA5A	9096076	1.000000	0.71417	0.969000	0.41365	0.997000	0.91878	8.824000	0.92023	2.716000	0.92895	0.655000	0.94253	CCA	-	NULL		0.333	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	protein_coding	OTTHUMT00000206989.2	G			9096076	-1	no_errors	NM_003966	genbank	human	validated	54_36p	missense	SNP	1.000	A
KIAA2013	90231	genome.wustl.edu	37	1	11983402	11983402	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:11983402G>A	ENST00000376572.3	-	2	1363	c.1178C>T	c.(1177-1179)aCg>aTg	p.T393M	KIAA2013_ENST00000376576.3_Missense_Mutation_p.T393M	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	393						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATAGTTGAGCGTCGACTCCAT	0.632																																																0			1											69.0	58.0	62.0					1																	11983402		2203	4300	6503	11905989	SO:0001583	missense	90231			AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1178C>T	1.37:g.11983402G>A	ENSP00000365756:p.Thr393Met		11905989	Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	HMMPfam_DUF2152	p.T393M	ENST00000376572.3	37	c.1178	CCDS141.1	1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134018	0.37630	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	5.52	3.53	0.40419	.	0.173478	0.45867	D	0.000339	T	0.38772	0.1053	N	0.22421	0.69	0.37975	D	0.933404	D;D	0.65815	0.994;0.995	P;P	0.51701	0.642;0.677	T	0.36696	-0.9737	9	0.45353	T	0.12	-0.3727	6.1479	0.20296	0.1694:0.2327:0.598:0.0	.	393;393	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	M	393	.	ENSP00000365756:T393M	T	-	2	0	KIAA2013	11905989	0.974000	0.33945	0.991000	0.47740	0.220000	0.24768	1.897000	0.39799	1.484000	0.48361	-0.142000	0.14014	ACG	-	HMMPfam_DUF2152		0.632	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2013	protein_coding	OTTHUMT00000006858.1	G	NM_138346		11905989	-1	no_errors	NM_138346	genbank	human	provisional	54_36p	missense	SNP	0.588	A
POTED	317754	genome.wustl.edu	37	21	14983062	14983062	+	Silent	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr21:14983062G>A	ENST00000299443.5	+	1	565	c.513G>A	c.(511-513)aaG>aaA	p.K171K		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	171						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AGAGGGACAAGGAAAAGAGGT	0.577																																																0			21											34.0	57.0	52.0					21																	14983062		798	3136	3934	13904933	SO:0001819	synonymous_variant	317754			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.513G>A	21.37:g.14983062G>A			13904933	C9JCF7	Silent	SNP	superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248	p.K171	ENST00000299443.5	37	c.513	CCDS13562.1	21																																																																																			-	superfamily_Ankyrin repeat,HMMPfam_Ank		0.577	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTED	protein_coding	OTTHUMT00000157660.1	G	NM_174981		13904933	+1	no_errors	NM_174981	genbank	human	validated	54_36p	silent	SNP	0.256	A
PADI1	29943	genome.wustl.edu	37	1	17555197	17555197	+	Nonsense_Mutation	SNP	G	G	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:17555197G>T	ENST00000375471.4	+	7	822	c.730G>T	c.(730-732)Gag>Tag	p.E244*		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	244					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ACAGCCAGGGGAGCAGGAGAT	0.582																																					Esophageal Squamous(80;414 1257 4580 27746 50832)											0			1											145.0	150.0	148.0					1																	17555197		2203	4300	6503	17427784	SO:0001587	stop_gained	29943			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.730G>T	1.37:g.17555197G>T	ENSP00000364620:p.Glu244*		17427784	A1L4K6|Q70SX6	Nonsense_Mutation	SNP	HMMPfam_PAD_N,superfamily_Cupredoxins,HMMPfam_PAD_M,superfamily_Peptidylarginine deiminase Pad4 middle domain,HMMPfam_PAD,superfamily_Pentein	p.E244*	ENST00000375471.4	37	c.730	CCDS178.1	1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377416	0.61735	.	.	ENSG00000142623	ENST00000375471	.	.	.	4.97	4.97	0.65823	.	0.402640	0.26397	N	0.024612	.	.	.	.	.	.	0.34435	D	0.698933	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-39.469	10.4546	0.44542	0.0909:0.0:0.9091:0.0	.	.	.	.	X	244	.	ENSP00000364620:E244X	E	+	1	0	PADI1	17427784	0.001000	0.12720	0.921000	0.36526	0.011000	0.07611	1.117000	0.31234	2.293000	0.77203	0.561000	0.74099	GAG	-	HMMPfam_PAD_M,superfamily_Peptidylarginine deiminase Pad4 middle domain		0.582	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	protein_coding	OTTHUMT00000006621.1	G	NM_013358		17427784	+1	no_errors	NM_013358	genbank	human	reviewed	54_36p	nonsense	SNP	0.382	T
CAP2	10486	genome.wustl.edu	37	6	17531592	17531592	+	Intron	SNP	G	G	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr6:17531592G>T	ENST00000229922.2	+	8	1168				CAP2_ENST00000489374.1_Intron|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Intron|CAP2_ENST00000378990.2_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)						activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CTCTGATCCTGATGACAAACG	0.438																																																0			6																																								17639571	SO:0001627	intron_variant	728380			BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.637-7908G>T	6.37:g.17531592G>T			17639571	B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	RNA	SNP	-	NULL	ENST00000229922.2	37	NULL	CCDS4539.1	6																																																																																			-	-		0.438	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC728380	protein_coding	OTTHUMT00000039952.2	G			17639571	-1	pseudogene	XR_015500	genbank	human	model	54_36p	rna	SNP	1.000	T
RNU6-978P	106479998	genome.wustl.edu	37	15	20086542	20086542	+	RNA	SNP	C	C	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr15:20086542C>A	ENST00000364371.1	+	0	0									RNA, U6 small nuclear 978, pseudogene																		AATGCAAATGCAGTTGATAAG	0.308																																																0			15																																								18346556			729722					15q11.1	2013-05-01			ENSG00000201241	ENSG00000201241			47941	pseudogene	RNA, pseudogene							Standard			Approved						15.37:g.20086542C>A			18346556		Missense_Mutation	SNP	HMMSmart_SM00248,HMMPfam_Ank,superfamily_Ankyrin repeat,PatternScan_ASP_PROTEASE	p.A134E	ENST00000364371.1	37	c.401		15																																																																																			-	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank		0.308	RNU6-978P-201	KNOWN	basic	snRNA	LOC729722	snRNA		C			18346556	+1	no_errors	XM_001716538	genbank	human	model	54_36p	missense	SNP	0.003	A
SLIT2	9353	genome.wustl.edu	37	4	20552454	20552454	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr4:20552454C>G	ENST00000504154.1	+	25	2746	c.2494C>G	c.(2494-2496)Cta>Gta	p.L832V	SLIT2_ENST00000503823.1_Missense_Mutation_p.L824V|SLIT2_ENST00000273739.5_Missense_Mutation_p.L836V|SLIT2_ENST00000503837.1_Missense_Mutation_p.L828V|SLIT2_ENST00000509394.2_3'UTR	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	832					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTTAGTTCTCTACATGGAAA	0.318																																																0			4											143.0	134.0	137.0					4																	20552454		2202	4300	6502	20161552	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2494C>G	4.37:g.20552454C>G	ENSP00000422591:p.Leu832Val		20161552	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT,HMMSmart_SM00365,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMSmart_SM00274,PatternScan_ASX_HYDROXYL,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00041,PatternScan_CTCK_1	p.L832V	ENST00000504154.1	37	c.2494	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736663	0.49045	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.86	-1.35	0.09114	.	0.000000	0.85682	D	0.000000	T	0.78935	0.4362	M	0.84846	2.72	0.80722	D	1	P;B	0.45240	0.854;0.256	B;B	0.43413	0.419;0.308	T	0.79848	-0.1630	10	0.59425	D	0.04	.	13.0004	0.58672	0.0:0.1867:0.0:0.8133	.	824;832	O94813-3;O94813	.;SLIT2_HUMAN	V	824;832;836;828;828;33	ENSP00000427548:L824V;ENSP00000422591:L832V;ENSP00000273739:L836V;ENSP00000422261:L828V;ENSP00000421975:L33V	ENSP00000273739:L836V	L	+	1	2	SLIT2	20161552	0.993000	0.37304	0.858000	0.33744	0.477000	0.33069	1.491000	0.35583	-0.375000	0.07955	-0.157000	0.13467	CTA	-	superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1		0.318	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	protein_coding	OTTHUMT00000250396.2	C			20161552	+1	no_errors	NM_004787	genbank	human	provisional	54_36p	missense	SNP	1.000	G
KRT16P3	644945	genome.wustl.edu	37	17	20407537	20407537	+	RNA	SNP	G	G	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr17:20407537G>T	ENST00000580113.1	-	0	252									keratin 16 pseudogene 3																		CGCCATAGCCGCCCCCCAGCC	0.667																																																0			17																																								20348129			0			BC110641		17p11.2	2014-06-12			ENSG00000214822	ENSG00000214822			37808	pseudogene	pseudogene			"""cytokeratin, Smith Magenis syndrome chromosome region"""	KERSMCR			Standard	NR_029393		Approved	MGC102966	uc002gxb.3		OTTHUMG00000130724		17.37:g.20407537G>T			20348129		Missense_Mutation	SNP	NULL	p.A67E	ENST00000580113.1	37	c.200		17																																																																																			-	NULL		0.667	KRT16P3-004	KNOWN	basic	processed_transcript	uc002gxb.2	pseudogene	OTTHUMT00000443764.1	G	NR_029393		20348129	-1	no_errors	ENST00000399048	ensembl	human	known	54_36p	missense	SNP	0.773	T
C7orf31	136895	genome.wustl.edu	37	7	25176194	25176194	+	Silent	SNP	A	A	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr7:25176194A>G	ENST00000409280.1	-	10	1478	c.1170T>C	c.(1168-1170)caT>caC	p.H390H	C7orf31_ENST00000283905.3_Silent_p.H390H			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	390										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CCTGGTTTTTATGGGTCACAC	0.393																																																0			7											206.0	194.0	198.0					7																	25176194		2203	4300	6503	25142719	SO:0001819	synonymous_variant	136895			AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1170T>C	7.37:g.25176194A>G			25142719	A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Silent	SNP	NULL	p.H390	ENST00000409280.1	37	c.1170	CCDS5394.1	7																																																																																			-	NULL		0.393	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf31	protein_coding	OTTHUMT00000326929.1	A	NM_138811		25142719	-1	no_errors	NM_138811	genbank	human	validated	54_36p	silent	SNP	0.000	G
RASSF8	11228	genome.wustl.edu	37	12	26218197	26218197	+	Missense_Mutation	SNP	G	G	T	rs79553120	byFrequency	TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr12:26218197G>T	ENST00000405154.2	+	3	1069	c.870G>T	c.(868-870)gaG>gaT	p.E290D	RASSF8_ENST00000381352.3_Missense_Mutation_p.E290D|RASSF8_ENST00000542865.1_Missense_Mutation_p.E290D|RASSF8_ENST00000541490.1_Missense_Mutation_p.E290D|RASSF8_ENST00000282884.9_Missense_Mutation_p.E290D	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	290	Glu-rich.				signal transduction (GO:0007165)					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					ATGAGGAAGAGGTTAAAGGAA	0.443																																																0			12											114.0	106.0	109.0					12																	26218197		2203	4300	6503	26109464	SO:0001583	missense	11228			U82396	CCDS8705.1, CCDS53765.1	12p12.3	2013-05-30	2008-02-22	2005-09-14	ENSG00000123094	ENSG00000123094			13232	protein-coding gene	gene with protein product		608231	"""chromosome 12 open reading frame 2"""	C12orf2			Standard	NM_007211		Approved	HoJ-1	uc001rgx.3	Q8NHQ8	OTTHUMG00000169087	ENST00000405154.2:c.870G>T	12.37:g.26218197G>T	ENSP00000384491:p.Glu290Asp		26109464	A8K1Z0|O95647|Q5SCI2|Q76KB6	Missense_Mutation	SNP	HMMSmart_RA,HMMPfam_RA	p.E290D	ENST00000405154.2	37	c.870	CCDS53765.1	12	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651283	0.47362	.	.	ENSG00000123094	ENST00000381352;ENST00000405154;ENST00000542865;ENST00000541490;ENST00000282884	D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11	5.21	4.3	0.51218	.	0.052379	0.85682	D	0.000000	D	0.86912	0.6047	N	0.19112	0.55	0.41451	D	0.987981	D;P	0.53619	0.961;0.608	P;B	0.49597	0.616;0.052	D	0.83611	0.0134	10	0.23891	T	0.37	-13.6991	9.6083	0.39648	0.0792:0.1444:0.7764:0.0	.	290;290	Q8NHQ8-2;Q8NHQ8	.;RASF8_HUMAN	D	290	ENSP00000370756:E290D;ENSP00000384491:E290D;ENSP00000439839:E290D;ENSP00000443096:E290D;ENSP00000282884:E290D	ENSP00000282884:E290D	E	+	3	2	RASSF8	26109464	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.595000	0.36708	2.609000	0.88269	0.563000	0.77884	GAG	-	NULL		0.443	RASSF8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF8	protein_coding	OTTHUMT00000402209.2	G	NM_007211		26109464	+1	no_errors	NM_007211	genbank	human	provisional	54_36p	missense	SNP	1.000	T
OTOF	9381	genome.wustl.edu	37	2	26697480	26697480	+	Silent	SNP	C	C	T	rs80356573	byFrequency	TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr2:26697480C>T	ENST00000272371.2	-	26	3315	c.3189G>A	c.(3187-3189)gcG>gcA	p.A1063A	OTOF_ENST00000338581.6_Silent_p.A316A|OTOF_ENST00000403946.3_Silent_p.A1063A|OTOF_ENST00000339598.3_Silent_p.A316A|OTOF_ENST00000402415.3_Silent_p.A373A	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1063					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGGCAGTACGCCTCGTCTG	0.617													c|||	35	0.00698882	0.0061	0.013	5008	,	,		13284	0.0		0.0159	False		,,,				2504	0.002				GBM(102;732 1451 20652 24062 31372)											0			2							,,,	48,4358	50.2+/-85.5	0,48,2155	95.0	81.0	85.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	948,3189,1119,948	-11.2	0.0	2	dbSNP_131	85	200,8398	86.1+/-148.5	3,194,4102	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	OTOF	NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2	,,,	3,242,6257	TT,TC,CC		2.3261,1.0894,1.9071	,,,	316/1231,1063/1998,373/1308,316/1231	26697480	248,12756	2203	4299	6502	26550984	SO:0001819	synonymous_variant	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3189G>A	2.37:g.26697480C>T			26550984	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerB	p.A1063	ENST00000272371.2	37	c.3189	CCDS1725.1	2																																																																																			-	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239		0.617	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	protein_coding	OTTHUMT00000214047.3	C			26550984	-1	no_errors	NM_194248	genbank	human	reviewed	54_36p	silent	SNP	0.957	T
N6AMT1	29104	genome.wustl.edu	37	21	30250570	30250570	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr21:30250570T>C	ENST00000303775.5	-	5	507	c.482A>G	c.(481-483)gAt>gGt	p.D161G	N6AMT1_ENST00000351429.3_Missense_Mutation_p.D133G	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	161					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						TGAAAGGAGATCTGGAACCAG	0.398																																																0			21											91.0	92.0	92.0					21																	30250570		2203	4300	6503	29172441	SO:0001583	missense	29104			AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"""chromosome 21 open reading frame 127"", ""HemK methyltransferase family member 2"""	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.482A>G	21.37:g.30250570T>C	ENSP00000303584:p.Asp161Gly		29172441	Q96F73	Missense_Mutation	SNP	HMMPfam_MTS,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,PatternScan_N6_MTASE	p.D161G	ENST00000303775.5	37	c.482	CCDS33526.1	21	.	.	.	.	.	.	.	.	.	.	T	12.03	1.814252	0.32053	.	.	ENSG00000156239	ENST00000303775;ENST00000351429	T;T	0.17528	2.52;2.27	5.17	3.99	0.46301	Methyltransferase small (1);	0.504572	0.22053	N	0.065292	T	0.14356	0.0347	L	0.42581	1.335	0.35851	D	0.826777	B;B	0.28636	0.218;0.001	B;B	0.29440	0.102;0.014	T	0.15407	-1.0438	10	0.23891	T	0.37	-2.9574	9.4874	0.38937	0.1582:0.0:0.0:0.8418	.	133;161	Q9Y5N5-2;Q9Y5N5	.;HEMK2_HUMAN	G	161;133	ENSP00000303584:D161G;ENSP00000286764:D133G	ENSP00000303584:D161G	D	-	2	0	N6AMT1	29172441	0.998000	0.40836	0.277000	0.24703	0.692000	0.40212	3.147000	0.50639	0.944000	0.37579	0.533000	0.62120	GAT	-	HMMPfam_MTS,superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.398	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N6AMT1	protein_coding	OTTHUMT00000171738.1	T	NM_013240		29172441	-1	no_errors	NM_013240	genbank	human	reviewed	54_36p	missense	SNP	0.598	C
LTN1	26046	genome.wustl.edu	37	21	30304906	30304906	+	Silent	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr21:30304906C>T	ENST00000361371.5	-	28	5035	c.4956G>A	c.(4954-4956)ctG>ctA	p.L1652L	LTN1_ENST00000389194.2_Silent_p.L1698L			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1652					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AATTTGAAGGCAGTTGTATTA	0.398																																																0			21											144.0	146.0	145.0					21																	30304906		2203	4300	6503	29226777	SO:0001819	synonymous_variant	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4956G>A	21.37:g.30304906C>T			29226777	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Silent	SNP	superfamily_ARM repeat,superfamily_RING/U-box,HMMSmart_SM00744,HMMPfam_zf-C3HC4	p.L1652	ENST00000361371.5	37	c.4956		21																																																																																			-	NULL		0.398	LTN1-008	NOVEL	basic|appris_principal	protein_coding	RNF160	protein_coding	OTTHUMT00000472108.1	C	NM_015565		29226777	-1	no_errors	NM_015565	genbank	human	validated	54_36p	silent	SNP	0.996	T
RN7SL633P	106479453	genome.wustl.edu	37	22	31456227	31456227	+	RNA	SNP	A	A	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr22:31456227A>G	ENST00000488974.2	+	0	253									RNA, 7SL, cytoplasmic 633, pseudogene																		gactgtgaatagccactgcat	0.488																																																0			22																																								29786227			0					22q12.2	2013-04-02			ENSG00000240186	ENSG00000240186		"""ncRNAs / Small cytoplasmic RNAs"""	46649	pseudogene	RNA, pseudogene							Standard			Approved						22.37:g.31456227A>G			29786227		RNA	SNP	-	NULL	ENST00000488974.2	37	NULL		22																																																																																			-	-		0.488	RN7SL633P-201	KNOWN	basic	misc_RNA	ENSG00000209058	misc_RNA		A			29786227	+1	pseudogene	ENST00000386323	ensembl	human	novel	54_36p	rna	SNP	1.000	G
ALDOA	226	genome.wustl.edu	37	16	30081460	30081460	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr16:30081460G>A	ENST00000566897.1	+	12	2174	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E	ALDOA_ENST00000395248.1_Missense_Mutation_p.G395E|ALDOA_ENST00000412304.2_Missense_Mutation_p.G341E|ALDOA_ENST00000395240.3_Missense_Mutation_p.G345E|ALDOA_ENST00000564546.1_Missense_Mutation_p.G341E|ALDOA_ENST00000338110.5_Missense_Mutation_p.G341E|ALDOA_ENST00000569545.1_Missense_Mutation_p.G341E|ALDOA_ENST00000569798.1_3'UTR|ALDOA_ENST00000563060.2_Missense_Mutation_p.G341E|ALDOA_ENST00000564595.2_Missense_Mutation_p.G395E			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	341					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						GCCTGTCAAGGAAAGTACACT	0.627																																																0			16											74.0	66.0	69.0					16																	30081460		2197	4300	6497	29988961	SO:0001583	missense	226			X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.1022G>A	16.37:g.30081460G>A	ENSP00000455724:p.Gly341Glu		29988961	B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Missense_Mutation	SNP	superfamily_SSF51569,HMMPfam_Glycolytic,PatternScan_ALDOLASE_CLASS_I	p.G341E	ENST00000566897.1	37	c.1022	CCDS10668.1	16	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681602	0.88542	.	.	ENSG00000149925	ENST00000395248;ENST00000338110;ENST00000412304;ENST00000395240	D;D;D	0.95690	-3.78;-3.78;-3.78	5.75	5.75	0.90469	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.98595	0.9530	H	0.97265	3.97	0.80722	D	1	P	0.48911	0.917	P	0.62435	0.902	D	0.99342	1.0912	10	0.87932	D	0	.	18.7132	0.91666	0.0:0.0:1.0:0.0	.	341	P04075	ALDOA_HUMAN	E	395;341;341;341	ENSP00000378669:G395E;ENSP00000336927:G341E;ENSP00000400452:G341E	ENSP00000336927:G341E	G	+	2	0	ALDOA	29988961	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.834000	0.86773	2.720000	0.93068	0.655000	0.94253	GGA	-	superfamily_SSF51569,HMMPfam_Glycolytic		0.627	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ALDOA	protein_coding	OTTHUMT00000435360.1	G	NM_000034		29988961	+1	no_errors	NM_000034	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
RYR3	6263	genome.wustl.edu	37	15	34105732	34105732	+	Missense_Mutation	SNP	G	G	A	rs192619532		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr15:34105732G>A	ENST00000389232.4	+	74	10524	c.10454G>A	c.(10453-10455)cGg>cAg	p.R3485Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R3480Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3485	Interaction with CALM. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R3485L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAACGGAAACGGGCAGTGGTG	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		20980	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	lung(1)	15											136.0	134.0	135.0					15																	34105732		1956	4137	6093	31893024	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10454G>A	15.37:g.34105732G>A	ENSP00000373884:p.Arg3485Gln		31893024	O15175|Q15412	Missense_Mutation	SNP	HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,HMMPfam_efhand,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans	p.R3485Q	ENST00000389232.4	37	c.10454	CCDS45210.1	15	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	36	5.704145	0.96812	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.97850	-4.57	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	D	0.98353	0.9453	M	0.62154	1.92	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.927;0.991	D	0.99748	1.1017	10	0.87932	D	0	.	18.1303	0.89599	0.0:0.0:1.0:0.0	.	3480;3485	Q15413-2;Q15413	.;RYR3_HUMAN	Q	3485;3485;3480	ENSP00000373884:R3485Q	ENSP00000354735:R3480Q	R	+	2	0	RYR3	31893024	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.601000	0.98297	2.511000	0.84671	0.655000	0.94253	CGG	-	NULL		0.522	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	G			31893024	+1	no_errors	NM_001036	genbank	human	validated	54_36p	missense	SNP	1.000	A
ADAMTS12	81792	genome.wustl.edu	37	5	33683153	33683153	+	Silent	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr5:33683153C>T	ENST00000504830.1	-	5	1220	c.885G>A	c.(883-885)gtG>gtA	p.V295V	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.V295V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	295	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGAGCCGAACCACAACAATGT	0.423										HNSCC(64;0.19)																																						0			5											109.0	99.0	103.0					5																	33683153		2203	4300	6503	33718910	SO:0001819	synonymous_variant	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.885G>A	5.37:g.33683153C>T			33718910	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1"	p.V295	ENST00000504830.1	37	c.885	CCDS34140.1	5																																																																																			-	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin"		0.423	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	protein_coding	OTTHUMT00000367164.2	C	NM_030955		33718910	-1	no_errors	NM_030955	genbank	human	reviewed	54_36p	silent	SNP	0.974	T
CSMD2	114784	genome.wustl.edu	37	1	34554715	34554715	+	Silent	SNP	G	G	A	rs370850896		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:34554715G>A	ENST00000373381.4	-	2	443	c.267C>T	c.(265-267)taC>taT	p.Y89Y		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	49	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCAGTTGGCGTAATTGGGGT	0.552																																																0			1						G		1,4405	2.1+/-5.4	0,1,2202	106.0	87.0	93.0		147	-10.0	0.7	1		93	0,8600		0,0,4300	no	coding-synonymous	CSMD2	NM_052896.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		49/3488	34554715	1,13005	2203	4300	6503	34327302	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.267C>T	1.37:g.34554715G>A			34327302	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10,PatternScan_IG_MHC	p.Y49	ENST00000373381.4	37	c.147		1																																																																																			-	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042		0.552	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	protein_coding		G	NM_052896		34327302	-1	no_errors	NM_052896	genbank	human	validated	54_36p	silent	SNP	0.996	A
NDUFAF1	51103	genome.wustl.edu	37	15	41687167	41687167	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr15:41687167G>A	ENST00000260361.4	-	3	1030	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	217					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		ATCCAAGGCCGACCATCCCCA	0.463																																																0			15											131.0	104.0	113.0					15																	41687167		2203	4300	6503	39474459	SO:0001583	missense	51103			AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"""Mitochondrial respiratory chain complex assembly factors"""	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.649C>T	15.37:g.41687167G>A	ENSP00000260361:p.Arg217Trp		39474459	Q9BVZ5	Missense_Mutation	SNP	HMMPfam_CIA30	p.R217W	ENST00000260361.4	37	c.649	CCDS10075.1	15	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316048	0.81469	.	.	ENSG00000137806	ENST00000260361	T	0.81330	-1.48	5.63	5.63	0.86233	NADH:ubiquinone oxidoreductase intermediate-associated protein 30 (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.92038	0.7477	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93381	0.6743	10	0.87932	D	0	-3.6358	14.8132	0.70010	0.0:0.0:0.8225:0.1775	.	217	Q9Y375	CIA30_HUMAN	W	217	ENSP00000260361:R217W	ENSP00000260361:R217W	R	-	1	2	NDUFAF1	39474459	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	3.379000	0.52440	2.829000	0.97493	0.551000	0.68910	CGG	-	HMMPfam_CIA30		0.463	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF1	protein_coding	OTTHUMT00000252692.2	G	NM_016013		39474459	-1	no_errors	NM_016013	genbank	human	validated	54_36p	missense	SNP	0.998	A
IGF2BP1	10642	genome.wustl.edu	37	17	47075144	47075144	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr17:47075144G>A	ENST00000290341.3	+	1	371	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	IGF2BP1_ENST00000515586.1_3'UTR|RP11-501C14.5_ENST00000505903.1_RNA|IGF2BP1_ENST00000431824.2_Missense_Mutation_p.V13M	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	13	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAACGAGAGCGTGACCCCCGC	0.642																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)											0			17											93.0	88.0	90.0					17																	47075144		2203	4300	6503	44430143	SO:0001583	missense	10642			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.37G>A	17.37:g.47075144G>A	ENSP00000290341:p.Val13Met		44430143	C9JT33	Missense_Mutation	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1	p.V13M	ENST00000290341.3	37	c.37	CCDS11543.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.517628	0.96416	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.10382	2.88;2.88	4.94	4.94	0.65067	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000004	T	0.32466	0.0830	M	0.67569	2.06	0.33912	D	0.639826	D;D	0.89917	1.0;0.998	D;D	0.69824	0.943;0.966	T	0.42916	-0.9423	10	0.72032	D	0.01	-12.0264	18.1251	0.89583	0.0:0.0:1.0:0.0	.	13;13	C9JT33;Q9NZI8	.;IF2B1_HUMAN	M	13	ENSP00000290341:V13M;ENSP00000389135:V13M	ENSP00000290341:V13M	V	+	1	0	IGF2BP1	44430143	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.323000	0.96364	2.434000	0.82447	0.650000	0.86243	GTG	-	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1		0.642	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	protein_coding	OTTHUMT00000364046.1	G	NM_006546		44430143	+1	no_errors	NM_006546	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
FAM21C	253725	genome.wustl.edu	37	10	46264937	46264937	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr10:46264937C>T	ENST00000336378.4	+	20	2022	c.1904C>T	c.(1903-1905)tCt>tTt	p.S635F	FAM21C_ENST00000374362.2_Missense_Mutation_p.S637F|FAM21C_ENST00000540872.1_Missense_Mutation_p.S637F|FAM21C_ENST00000537517.1_Missense_Mutation_p.S613F|FAM21C_ENST00000359860.4_Missense_Mutation_p.S579F	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	635					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CACTTAGCATCTGACAGCAGG	0.463																																																0			10											6.0	6.0	6.0					10																	46264937		1491	3506	4997	45584943	SO:0001583	missense	253725				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1904C>T	10.37:g.46264937C>T	ENSP00000337541:p.Ser635Phe		45584943	B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	NULL	p.S635F	ENST00000336378.4	37	c.1904		10	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797008	0.31777	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.29	3.29	0.37713	.	0.486350	0.20370	N	0.093664	T	0.52917	0.1764	M	0.68317	2.08	0.21822	N	0.999523	P;P;P;P	0.52170	0.937;0.951;0.951;0.94	P;P;P;P	0.55508	0.777;0.739;0.739;0.667	T	0.43845	-0.9366	9	0.72032	D	0.01	-6.9813	10.2223	0.43205	0.0:1.0:0.0:0.0	.	613;637;635;580	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	F	635;637;613;637;637;579;549	.	ENSP00000337541:S635F	S	+	2	0	FAM21C	45584943	0.869000	0.29996	0.153000	0.22517	0.248000	0.25809	2.246000	0.43142	1.836000	0.53414	0.549000	0.68633	TCT	-	NULL		0.463	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	FAM21C	protein_coding		C			45584943	+1	no_errors	NM_015262	genbank	human	validated	54_36p	missense	SNP	0.105	T
PREX1	57580	genome.wustl.edu	37	20	47324916	47324916	+	Missense_Mutation	SNP	G	G	A	rs375685234		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr20:47324916G>A	ENST00000371941.3	-	6	687	c.665C>T	c.(664-666)gCg>gTg	p.A222V	PREX1_ENST00000396220.1_Missense_Mutation_p.A222V	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	222	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACTCTGGACCGCGGGGTGGTC	0.582																																																0			20						G	VAL/ALA	0,4406		0,0,2203	120.0	130.0	127.0		665	5.6	0.2	20		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	PREX1	NM_020820.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	222/1660	47324916	1,13005	2203	4300	6503	46758323	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.665C>T	20.37:g.47324916G>A	ENSP00000361009:p.Ala222Val		46758323	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	"superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_""Winged helix"" DNA-binding domain,HMMSmart_SM00049,HMMPfam_DEP,superfamily_PDZ domain-like,HMMSmart_SM00228"	p.A222V	ENST00000371941.3	37	c.665	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	G	11.57	1.676973	0.29783	0.0	1.16E-4	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.64803	-0.12;-0.12	5.64	5.64	0.86602	Dbl homology (DH) domain (5);	0.000000	0.53938	U	0.000049	T	0.51126	0.1656	L	0.33137	0.985	0.41247	D	0.986688	P	0.35959	0.53	B	0.28139	0.086	T	0.49744	-0.8907	10	0.29301	T	0.29	.	19.7013	0.96054	0.0:0.0:1.0:0.0	.	222	Q8TCU6	PREX1_HUMAN	V	222	ENSP00000361009:A222V;ENSP00000379522:A222V	ENSP00000361009:A222V	A	-	2	0	PREX1	46758323	1.000000	0.71417	0.162000	0.22713	0.184000	0.23303	4.979000	0.63806	2.657000	0.90304	0.655000	0.94253	GCG	-	superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325		0.582	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	protein_coding	OTTHUMT00000079623.1	G	NM_020820		46758323	-1	no_errors	NM_020820	genbank	human	reviewed	54_36p	missense	SNP	0.513	A
WAS	7454	genome.wustl.edu	37	X	48544183	48544183	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrX:48544183G>A	ENST00000376701.4	+	4	496	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	141	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCGGGCCCTCGTGCAGGAGAA	0.617			"""Mis, N, F, S"""			lymphoma																																	X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Wiskott-Aldrich syndrome		L	0			X											33.0	30.0	31.0					X																	48544183		2198	4285	6483	48429127	SO:0001583	missense	7454			AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.421G>A	X.37:g.48544183G>A	ENSP00000365891:p.Val141Met		48429127	Q9BU11|Q9UNJ9	Missense_Mutation	SNP	superfamily_SSF50729,HMMPfam_WH1,HMMSmart_WH1,HMMPfam_PBD,HMMSmart_PBD,superfamily_WASP_C,HMMPfam_WH2,HMMSmart_WH2	p.V141M	ENST00000376701.4	37	c.421	CCDS14303.1	X	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441391	0.63067	.	.	ENSG00000015285	ENST00000450772;ENST00000376701	D;D	0.98968	-5.28;-5.28	5.16	5.16	0.70880	EVH1 (3);Pleckstrin homology-type (1);	0.139652	0.47852	D	0.000212	D	0.98560	0.9519	L	0.49455	1.56	0.37975	D	0.933403	D	0.89917	1.0	D	0.79784	0.993	D	0.99947	1.1482	10	0.87932	D	0	-12.4988	13.1148	0.59294	0.0:0.0:1.0:0.0	.	141	P42768	WASP_HUMAN	M	141	ENSP00000410537:V141M;ENSP00000365891:V141M	ENSP00000365891:V141M	V	+	1	0	WAS	48429127	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.398000	0.52579	2.156000	0.67533	0.464000	0.42555	GTG	-	superfamily_SSF50729,HMMPfam_WH1,HMMSmart_WH1		0.617	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	WAS	protein_coding	OTTHUMT00000083379.1	G	NM_000377		48429127	+1	no_errors	NM_000377	genbank	human	reviewed	54_36p	missense	SNP	0.379	A
FRMPD2	143162	genome.wustl.edu	37	10	49392661	49392661	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr10:49392661C>G	ENST00000374201.3	-	20	2834	c.2532G>C	c.(2530-2532)agG>agC	p.R844S	FRMPD2_ENST00000407470.4_Missense_Mutation_p.R812S|FRMPD2_ENST00000305531.3_Missense_Mutation_p.R819S	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	844	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCTGGATCATCCTAACAGCCA	0.408																																																0			10											105.0	101.0	103.0					10																	49392661		2203	4300	6503	49062667	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2532G>C	10.37:g.49392661C>G	ENSP00000363317:p.Arg844Ser		49062667	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	HMMSmart_SM00750,superfamily_Ubiquitin-like,HMMSmart_SM00295,HMMPfam_FERM_N,superfamily_Second domain of FERM,HMMPfam_FERM_M,superfamily_PH domain-like,HMMPfam_FERM_C,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228	p.R844S	ENST00000374201.3	37	c.2532	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735294	0.30774	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.38077	1.16;1.16;1.16	5.17	1.53	0.23141	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.12817	0.0311	N	0.01618	-0.8	0.25126	N	0.990601	B;B;B	0.28128	0.201;0.135;0.201	B;B;B	0.32289	0.032;0.143;0.032	T	0.37197	-0.9716	9	0.11794	T	0.64	.	7.3434	0.26650	0.0:0.257:0.0:0.743	.	819;844;812	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	S	844;819;812	ENSP00000363317:R844S;ENSP00000307079:R819S;ENSP00000384339:R812S	ENSP00000307079:R819S	R	-	3	2	FRMPD2	49062667	0.974000	0.33945	0.936000	0.37596	0.648000	0.38561	0.258000	0.18387	0.016000	0.14998	-0.793000	0.03317	AGG	-	superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228		0.408	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	protein_coding	OTTHUMT00000047923.3	C	NM_152428		49062667	-1	no_errors	NM_001018071	genbank	human	reviewed	54_36p	missense	SNP	0.842	G
DCC	1630	genome.wustl.edu	37	18	50912489	50912489	+	Silent	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr18:50912489C>T	ENST00000442544.2	+	16	3052	c.2436C>T	c.(2434-2436)gcC>gcT	p.A812A	DCC_ENST00000412726.1_Silent_p.A660A|DCC_ENST00000581580.1_Silent_p.A467A	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	812	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGAAAGTGCCACCACCAGGT	0.333																																																0			18											90.0	86.0	87.0					18																	50912489		2203	4299	6502	49166487	SO:0001819	synonymous_variant	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2436C>T	18.37:g.50912489C>T			49166487		Silent	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_Neogenin_C	p.A812	ENST00000442544.2	37	c.2436	CCDS11952.1	18																																																																																			-	superfamily_Fibronectin type III		0.333	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	protein_coding	OTTHUMT00000255996.3	C	NM_005215		49166487	+1	no_errors	NM_005215	genbank	human	validated	54_36p	silent	SNP	1.000	T
MAP3K12	7786	genome.wustl.edu	37	12	53881061	53881061	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr12:53881061C>T	ENST00000267079.2	-	2	340	c.115G>A	c.(115-117)Gag>Aag	p.E39K	MAP3K12_ENST00000547035.1_Missense_Mutation_p.E39K|MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547488.1_Missense_Mutation_p.E39K	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	39					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AGGTCCTTCTCGGGAGTGCAG	0.622																																																0			12											137.0	108.0	118.0					12																	53881061		2203	4300	6503	52167328	SO:0001583	missense	7786			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.115G>A	12.37:g.53881061C>T	ENSP00000267079:p.Glu39Lys		52167328	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST	p.E39K	ENST00000267079.2	37	c.115	CCDS8860.1	12	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047772	0.93740	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035;ENST00000547151	T;T;T	0.79653	-1.28;-1.29;-1.29	4.9	4.9	0.64082	.	0.000000	0.46145	D	0.000302	T	0.75496	0.3857	N	0.24115	0.695	0.58432	D	0.999997	D;D	0.64830	0.994;0.99	P;B	0.47470	0.548;0.277	T	0.79217	-0.1894	10	0.54805	T	0.06	.	17.2243	0.86965	0.0:1.0:0.0:0.0	.	39;39	G3V1Y2;Q12852	.;M3K12_HUMAN	K	39	ENSP00000267079:E39K;ENSP00000449038:E39K;ENSP00000448689:E39K	ENSP00000267079:E39K	E	-	1	0	MAP3K12	52167328	1.000000	0.71417	0.952000	0.39060	0.933000	0.57130	7.007000	0.76335	2.448000	0.82819	0.313000	0.20887	GAG	-	NULL		0.622	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP3K12	protein_coding	OTTHUMT00000406267.1	C	NM_006301		52167328	-1	no_errors	NM_006301	genbank	human	reviewed	54_36p	missense	SNP	0.997	T
MAGED2	10916	genome.wustl.edu	37	X	54839593	54839593	+	Splice_Site	SNP	G	G	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrX:54839593G>T	ENST00000375068.1	+	9	1441	c.1208G>T	c.(1207-1209)gGg>gTg	p.G403V	MAGED2_ENST00000396224.1_Splice_Site_p.G403V|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000347546.4_Splice_Site_p.G385V|MAGED2_ENST00000375060.1_Splice_Site_p.G318V|MAGED2_ENST00000375058.1_Splice_Site_p.G403V|MAGED2_ENST00000375062.4_Splice_Site_p.G318V|MAGED2_ENST00000375053.2_Splice_Site_p.G403V|MAGED2_ENST00000218439.4_Splice_Site_p.G403V			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	403	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						CTGCGCCCTGGGTATGATTGG	0.577																																																0			X											134.0	118.0	124.0					X																	54839593		2203	4300	6503	54856318	SO:0001630	splice_region_variant	10916			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1208+1G>T	X.37:g.54839593G>T			54856318	A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	HMMPfam_MAGE	p.G403V	ENST00000375068.1	37	c.1208	CCDS14362.1	X	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225490	0.79576	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.05513	3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43;3.43	4.18	4.18	0.49190	.	0.000000	0.38436	N	0.001700	T	0.28599	0.0708	M	0.91038	3.17	0.80722	D	1	D;D	0.63046	0.992;0.979	D;P	0.65773	0.938;0.868	T	0.15521	-1.0434	10	0.87932	D	0	.	11.656	0.51318	0.0:0.0:1.0:0.0	.	318;403	Q5H907;Q9UNF1	.;MAGD2_HUMAN	V	403;403;347;385;318;403;403;318;403	ENSP00000364209:G403V;ENSP00000364193:G403V;ENSP00000336962:G347V;ENSP00000340290:G385V;ENSP00000364202:G318V;ENSP00000218439:G403V;ENSP00000364198:G403V;ENSP00000364200:G318V;ENSP00000379526:G403V	ENSP00000218439:G403V	G	+	2	0	MAGED2	54856318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.308000	0.59129	2.031000	0.59945	0.600000	0.82982	GGG	-	HMMPfam_MAGE		0.577	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGED2	protein_coding	OTTHUMT00000056821.2	G	NM_014599	Missense_Mutation	54856318	+1	no_errors	NM_014599	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56417946	56417946	+	Missense_Mutation	SNP	A	A	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr6:56417946A>G	ENST00000361203.3	-	57	15018	c.15011T>C	c.(15010-15012)aTg>aCg	p.M5004T	DST_ENST00000370754.5_Missense_Mutation_p.M5184T|DST_ENST00000244364.6_Missense_Mutation_p.M2592T|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.M4680T|DST_ENST00000421834.2_Missense_Mutation_p.M2918T|DST_ENST00000370769.4_Missense_Mutation_p.M5006T|DST_ENST00000370788.2_Missense_Mutation_p.M2918T			Q03001	DYST_HUMAN	dystonin	5004					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTGTTGGTCCATTTCCTTCTG	0.383																																																0			6											178.0	176.0	176.0					6																	56417946		1854	4107	5961	56525905	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15011T>C	6.37:g.56417946A>G	ENSP00000354508:p.Met5004Thr		56525905	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,HMMPfam_Spectrin,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_SM00243	p.M2918T	ENST00000361203.3	37	c.8753		6	.	.	.	.	.	.	.	.	.	.	A	8.377	0.836571	0.16891	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32	5.76	3.21	0.36854	.	0.196730	0.35207	N	0.003373	T	0.21387	0.0515	L	0.57536	1.79	0.23215	N	0.99811	B;B;P;B;B	0.42248	0.156;0.227;0.774;0.01;0.1	B;B;B;B;B	0.42188	0.037;0.119;0.379;0.009;0.122	T	0.06006	-1.0851	9	0.52906	T	0.07	.	9.7009	0.40187	0.7597:0.1228:0.0:0.1174	.	2918;5006;5184;5004;2592	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	T	2592;5184;5006;2918;4680;2918;5004	ENSP00000244364:M2592T;ENSP00000359790:M5184T;ENSP00000359805:M5006T;ENSP00000400883:M2918T;ENSP00000393645:M4680T;ENSP00000359824:M2918T;ENSP00000354508:M5004T	ENSP00000244364:M2592T	M	-	2	0	DST	56525905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.210000	0.65214	1.102000	0.41551	0.533000	0.62120	ATG	-	superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150		0.383	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	protein_coding	OTTHUMT00000041021.3	A	NM_001723		56525905	-1	no_errors	NM_183380	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
PRG2	5553	genome.wustl.edu	37	11	57156171	57156171	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr11:57156171C>T	ENST00000311862.5	-	4	450	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	PRG2_ENST00000533605.1_Missense_Mutation_p.R115Q|PRG2_ENST00000525955.1_Missense_Mutation_p.R126Q	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	126	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	GTAGCACCTCCGGCAAGTAAA	0.473																																																0			11											77.0	74.0	75.0					11																	57156171		2201	4296	6497	56912747	SO:0001583	missense	5553			BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.377G>A	11.37:g.57156171C>T	ENSP00000312134:p.Arg126Gln		56912747	A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1	p.R126Q	ENST00000311862.5	37	c.377	CCDS7955.1	11	.	.	.	.	.	.	.	.	.	.	C	9.726	1.160994	0.21538	.	.	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.41400	1.0;2.24;1.0	5.23	-8.77	0.00827	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.919482	0.08918	N	0.874843	T	0.27866	0.0686	L	0.31804	0.96	0.09310	N	1	B;B	0.16166	0.001;0.016	B;B	0.13407	0.002;0.009	T	0.23404	-1.0189	10	0.20046	T	0.44	.	17.99	0.89165	0.0:0.7086:0.0:0.2914	.	115;126	A6XMW0;P13727	.;PRG2_HUMAN	Q	126;115;126	ENSP00000312134:R126Q;ENSP00000433231:R115Q;ENSP00000433016:R126Q	ENSP00000312134:R126Q	R	-	2	0	PRG2	56912747	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.102000	0.00603	-1.812000	0.01227	-1.192000	0.01694	CGG	-	HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C		0.473	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRG2	protein_coding	OTTHUMT00000392468.1	C	NM_002728		56912747	-1	no_errors	NM_002728	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
C1orf87	127795	genome.wustl.edu	37	1	60466829	60466829	+	Splice_Site	SNP	C	C	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:60466829C>G	ENST00000371201.3	-	10	1300		c.e10-1		C1orf87_ENST00000395552.1_Splice_Site|C1orf87_ENST00000450089.2_Splice_Site|C1orf87_ENST00000486478.1_Splice_Site	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87								calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCATTCTTCCCTGAACAAGAA	0.398																																					NSCLC(75;811 1386 4923 13371 51772)											0			1											51.0	49.0	49.0					1																	60466829		2203	4300	6503	60239417	SO:0001630	splice_region_variant	127795			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1193-1G>C	1.37:g.60466829C>G			60239417	Q6ZU07|Q8IVS0	Splice_Site	SNP	-	e9-1	ENST00000371201.3	37	c.1193-1	CCDS614.1	1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365381	0.41902	.	.	ENSG00000162598	ENST00000371201;ENST00000395552;ENST00000450089	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1695	0.65500	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf87	60239417	0.981000	0.34729	0.966000	0.40874	0.089000	0.18198	3.296000	0.51802	2.802000	0.96397	0.655000	0.94253	.	-	-		0.398	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf87	protein_coding	OTTHUMT00000024943.1	C	NM_152377	Intron	60239417	-1	no_errors	NM_152377	genbank	human	predicted	54_36p	splice_site	SNP	0.537	G
USP15	9958	genome.wustl.edu	37	12	62749122	62749122	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr12:62749122T>C	ENST00000280377.5	+	8	839	c.781T>C	c.(781-783)Tca>Cca	p.S261P	USP15_ENST00000393654.3_Missense_Mutation_p.S236P|USP15_ENST00000353364.3_Missense_Mutation_p.S232P|USP15_ENST00000550632.1_3'UTR	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	261					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TGTGAAAAACTCAAATTACTG	0.328																																					Melanoma(181;615 2041 39364 49691 50001)											0			12											64.0	63.0	64.0					12																	62749122		2203	4298	6501	61035389	SO:0001583	missense	9958			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.781T>C	12.37:g.62749122T>C	ENSP00000280377:p.Ser261Pro		61035389	Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	HMMSmart_DUSP,HMMPfam_DUF1055,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,superfamily_RNA3apos_cycl/enolpyr_transf_A/B,PatternScan_UCH_2_2	p.S232P	ENST00000280377.5	37	c.694	CCDS58251.1	12	.	.	.	.	.	.	.	.	.	.	T	23.6	4.441053	0.83993	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.21031	2.05;2.03;2.04	5.45	5.45	0.79879	.	0.232564	0.37715	N	0.001980	T	0.23014	0.0556	L	0.36672	1.1	0.80722	D	1	P;P	0.37997	0.488;0.614	B;B	0.42851	0.228;0.4	T	0.02320	-1.1177	9	.	.	.	-8.9236	15.5204	0.75862	0.0:0.0:0.0:1.0	.	261;232	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	P	232;261;236	ENSP00000258123:S232P;ENSP00000280377:S261P;ENSP00000377264:S236P	.	S	+	1	0	USP15	61035389	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.247000	0.78257	2.077000	0.62373	0.455000	0.32223	TCA	-	NULL		0.328	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP15	protein_coding	OTTHUMT00000407831.2	T	NM_006313		61035389	+1	no_errors	NM_006313	genbank	human	provisional	54_36p	missense	SNP	1.000	C
CHD7	55636	genome.wustl.edu	37	8	61773615	61773615	+	Silent	SNP	A	A	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr8:61773615A>G	ENST00000423902.2	+	35	8240	c.7761A>G	c.(7759-7761)aaA>aaG	p.K2587K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2587					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ATGCTCCTAAAAATAAGGATT	0.458																																																0			8											59.0	59.0	59.0					8																	61773615		1953	4147	6100	61936169	SO:0001819	synonymous_variant	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7761A>G	8.37:g.61773615A>G			61936169	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_SM00592	p.K2587	ENST00000423902.2	37	c.7761	CCDS47865.1	8																																																																																			-	HMMPfam_BRK,HMMSmart_SM00592		0.458	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	protein_coding	OTTHUMT00000383468.2	A	XM_098762		61936169	+1	no_errors	NM_017780	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
ZNF324B	388569	genome.wustl.edu	37	19	58967498	58967498	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr19:58967498C>T	ENST00000336614.4	+	4	1294	c.1187C>T	c.(1186-1188)cCc>cTc	p.P396L	ZNF324B_ENST00000545523.1_Missense_Mutation_p.P396L|ZNF324B_ENST00000391696.1_Missense_Mutation_p.P386L	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GGCGAGAAGCCCTTCGTATGC	0.662																																																0			19											57.0	55.0	55.0					19																	58967498		2203	4300	6503	63659310	SO:0001583	missense	388569			AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.1187C>T	19.37:g.58967498C>T	ENSP00000337473:p.Pro396Leu		63659310	B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	HMMPfam_KRAB,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.P396L	ENST00000336614.4	37	c.1187	CCDS33138.1	19	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175504	0.57692	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.17054	2.3;2.3;2.3	3.22	3.22	0.36961	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41396	D	0.000888	T	0.35653	0.0939	L	0.58510	1.815	0.52099	D	0.999941	D;D	0.89917	1.0;0.997	D;P	0.85130	0.997;0.882	T	0.17868	-1.0355	10	0.87932	D	0	.	12.274	0.54724	0.0:1.0:0.0:0.0	.	396;386	Q6AW86;C9JTQ8	Z324B_HUMAN;.	L	396;396;386	ENSP00000337473:P396L;ENSP00000438930:P396L;ENSP00000375578:P386L	ENSP00000337473:P396L	P	+	2	0	ZNF324B	63659310	1.000000	0.71417	0.580000	0.28601	0.540000	0.34992	7.259000	0.78381	1.784000	0.52394	0.591000	0.81541	CCC	-	superfamily_C2H2 and C2HC zinc fingers		0.662	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324B	protein_coding	OTTHUMT00000467038.1	C	NM_207395		63659310	+1	no_errors	NM_207395	genbank	human	validated	54_36p	missense	SNP	0.795	T
PYGM	5837	genome.wustl.edu	37	11	64519456	64519456	+	Missense_Mutation	SNP	G	G	A	rs377225525		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr11:64519456G>A	ENST00000164139.3	-	14	2106	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	PYGM_ENST00000377432.3_Missense_Mutation_p.R482W|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	570					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCGTGAATCCGCTTCACCTGG	0.512																																																0			11	GRCh37	CM076447	PYGM	M		G	TRP/ARG,TRP/ARG	0,4402		0,0,2201	215.0	181.0	192.0		1444,1708	2.4	1.0	11		192	1,8593		0,1,4296	no	missense,missense	PYGM	NM_001164716.1,NM_005609.2	101,101	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	482/755,570/843	64519456	1,12995	2201	4297	6498	64276032	SO:0001583	missense	5837				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1708C>T	11.37:g.64519456G>A	ENSP00000164139:p.Arg570Trp		64276032	A0AVK1|A6NDY6	Missense_Mutation	SNP	superfamily_SSF53756,HMMPfam_Phosphorylase,PatternScan_PHOSPHORYLASE	p.R570W	ENST00000164139.3	37	c.1708	CCDS8079.1	11	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073843	0.76415	0.0	1.16E-4	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.98777	-3.95;-5.13	5.71	2.44	0.29823	.	0.113829	0.38217	N	0.001764	D	0.99444	0.9803	H	0.98918	4.37	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98003	1.0361	10	0.87932	D	0	-27.3256	12.1431	0.54008	0.0:0.0:0.4898:0.5102	.	482;570	A6NDY6;P11217	.;PYGM_HUMAN	W	482;570;551	ENSP00000366650:R482W;ENSP00000164139:R570W	ENSP00000164139:R570W	R	-	1	2	PYGM	64276032	0.960000	0.32886	1.000000	0.80357	0.997000	0.91878	0.153000	0.16323	1.356000	0.45884	0.561000	0.74099	CGG	-	superfamily_SSF53756,HMMPfam_Phosphorylase		0.512	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	protein_coding	OTTHUMT00000143254.2	G	NM_005609		64276032	-1	no_errors	NM_005609	genbank	human	validated	54_36p	missense	SNP	1.000	A
SPTB	6710	genome.wustl.edu	37	14	65240071	65240071	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr14:65240071C>T	ENST00000389721.5	-	24	5077	c.5045G>A	c.(5044-5046)cGc>cAc	p.R1682H	SPTB_ENST00000389720.3_Missense_Mutation_p.R1682H|SPTB_ENST00000556626.1_Missense_Mutation_p.R1682H|SPTB_ENST00000542895.1_Missense_Mutation_p.R1682H|SPTB_ENST00000389722.3_Missense_Mutation_p.R1682H	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1682					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.R1682H(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTTGCGCTTGCGCTCTTCCGC	0.552																																																1	Substitution - Missense(1)	large_intestine(1)	14											131.0	113.0	119.0					14																	65240071		2203	4300	6503	64309824	SO:0001583	missense	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5045G>A	14.37:g.65240071C>T	ENSP00000374371:p.Arg1682His		64309824	Q15510|Q15519	Missense_Mutation	SNP	superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH	p.R1682H	ENST00000389721.5	37	c.5045	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912487	0.72983	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.80999	0.4732	M	0.89968	3.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.85189	0.1008	10	0.87932	D	0	.	17.6535	0.88171	0.0:1.0:0.0:0.0	.	466;1682;1686	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	H	1686;1682;466;347;1682;1682;1682;1682	ENSP00000374372:R1682H;ENSP00000451324:R347H;ENSP00000451752:R1682H;ENSP00000374371:R1682H;ENSP00000443882:R1682H;ENSP00000374370:R1682H	ENSP00000334218:R466H	R	-	2	0	SPTB	64309824	1.000000	0.71417	0.353000	0.25747	0.147000	0.21601	7.792000	0.85828	2.537000	0.85549	0.561000	0.74099	CGC	-	HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC		0.552	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	protein_coding	OTTHUMT00000414080.1	C			64309824	-1	no_errors	NM_001024858	genbank	human	validated	54_36p	missense	SNP	0.998	T
DPP3	10072	genome.wustl.edu	37	11	66260343	66260343	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr11:66260343C>A	ENST00000360510.2	+	10	1210	c.1145C>A	c.(1144-1146)gCt>gAt	p.A382D	DPP3_ENST00000532677.1_Missense_Mutation_p.A401D|DPP3_ENST00000530165.1_Missense_Mutation_p.A352D|DPP3_ENST00000541961.1_Missense_Mutation_p.A382D|DPP3_ENST00000453114.1_Missense_Mutation_p.A382D|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000531863.1_Missense_Mutation_p.A402D			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	382					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTCACCTTCGCTGGCTCCGGC	0.617																																																0			11											78.0	79.0	78.0					11																	66260343		2200	4295	6495	66016919	SO:0001583	missense	10072			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"""dipeptidylpeptidase III"", ""dipeptidylpeptidase 3"""			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.1145C>A	11.37:g.66260343C>A	ENSP00000353701:p.Ala382Asp		66016919	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Missense_Mutation	SNP	HMMPfam_Peptidase_M49	p.A382D	ENST00000360510.2	37	c.1145	CCDS8141.1	11	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384316	0.82792	.	.	ENSG00000254986	ENST00000531863;ENST00000532677;ENST00000360510;ENST00000453114;ENST00000541961;ENST00000530165;ENST00000543807	T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75	5.41	5.41	0.78517	.	0.164374	0.53938	D	0.000047	T	0.57021	0.2025	M	0.89715	3.055	0.47123	D	0.999323	D;P	0.63046	0.992;0.787	D;D	0.79108	0.992;0.983	T	0.64918	-0.6294	10	0.87932	D	0	.	12.4451	0.55647	0.0:0.8313:0.1687:0.0	.	401;382	G3V1D3;Q9NY33	.;DPP3_HUMAN	D	402;401;382;382;382;352;280	ENSP00000432782:A402D;ENSP00000435284:A401D;ENSP00000353701:A382D;ENSP00000389943:A382D;ENSP00000440502:A382D;ENSP00000436941:A352D	ENSP00000353701:A382D	A	+	2	0	DPP3	66016919	1.000000	0.71417	0.985000	0.45067	0.708000	0.40852	5.376000	0.66178	2.535000	0.85469	0.655000	0.94253	GCT	-	HMMPfam_Peptidase_M49		0.617	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP3	protein_coding	OTTHUMT00000393424.2	C			66016919	+1	no_errors	NM_005700	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
COL19A1	1310	genome.wustl.edu	37	6	70642743	70642743	+	Missense_Mutation	SNP	A	A	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr6:70642743A>G	ENST00000322773.4	+	7	837	c.735A>G	c.(733-735)atA>atG	p.I245M		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	245					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTTGTGAAATATCAGATACTA	0.318																																																0			6											62.0	62.0	62.0					6																	70642743		2203	4296	6499	70699464	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.735A>G	6.37:g.70642743A>G	ENSP00000316030:p.Ile245Met		70699464	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMPfam_Collagen	p.I245M	ENST00000322773.4	37	c.735	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	A	6.155	0.396877	0.11638	.	.	ENSG00000082293	ENST00000322773	D	0.92249	-3.0	5.67	0.396	0.16309	.	0.331868	0.31472	N	0.007591	T	0.73225	0.3560	N	0.25332	0.735	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.61959	-0.6955	10	0.37606	T	0.19	.	6.6113	0.22753	0.6312:0.2413:0.1276:0.0	.	245	Q14993	COJA1_HUMAN	M	245	ENSP00000316030:I245M	ENSP00000316030:I245M	I	+	3	3	COL19A1	70699464	1.000000	0.71417	0.005000	0.12908	0.611000	0.37282	0.937000	0.28951	-0.142000	0.11354	-0.280000	0.10049	ATA	-	NULL		0.318	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	protein_coding	OTTHUMT00000041127.1	A			70699464	+1	no_errors	NM_001858	genbank	human	reviewed	54_36p	missense	SNP	0.727	G
ZNF638	27332	genome.wustl.edu	37	2	71653614	71653614	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr2:71653614G>C	ENST00000409544.1	+	24	5245	c.4615G>C	c.(4615-4617)Gat>Cat	p.D1539H	ZNF638_ENST00000409407.1_Missense_Mutation_p.D479H|ZNF638_ENST00000355812.3_Missense_Mutation_p.W1130C|ZNF638_ENST00000264447.4_Missense_Mutation_p.D1539H	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1539					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ATTTAATTTGGATGAATTTGT	0.333																																																0			2											63.0	65.0	64.0					2																	71653614		2203	4300	6503	71507122	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.4615G>C	2.37:g.71653614G>C	ENSP00000386433:p.Asp1539His		71507122	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	HMMSmart_SM00451,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1	p.D1539H	ENST00000409544.1	37	c.4615	CCDS1917.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.89|17.89	3.500735|3.500735	0.64298|0.64298	.|.	.|.	ENSG00000075292|ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695|ENST00000355812	T;T;T|T	0.49139|0.56275	0.79;0.79;1.13|0.47	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.51477|.	D|.	0.000082|.	T|T	0.62295|0.62295	0.2416|0.2416	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D|D	0.89917|0.89917	1.0;1.0|1.0	D;D|D	0.91635|0.87578	0.999;0.997|0.998	T|T	0.65994|0.65994	-0.6033|-0.6033	10|9	0.48119|0.87932	T|D	0.1|0	-14.6779|-14.6779	16.9498|16.9498	0.86242|0.86242	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1539;1539|1130	Q14966-3;Q14966|Q14966-4	.;ZN638_HUMAN|.	H|C	1539;1539;479;479|1130	ENSP00000264447:D1539H;ENSP00000386433:D1539H;ENSP00000386813:D479H|ENSP00000348066:W1130C	ENSP00000264447:D1539H|ENSP00000348066:W1130C	D|W	+|+	1|3	0|0	ZNF638|ZNF638	71507122|71507122	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.580000|5.580000	0.67464|0.67464	2.594000|2.594000	0.87642|0.87642	0.655000|0.655000	0.94253|0.94253	GAT|TGG	-	NULL		0.333	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	protein_coding	OTTHUMT00000327431.1	G	NM_014497		71507122	+1	no_errors	NM_001014972	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
SNUPN	10073	genome.wustl.edu	37	15	75901947	75901947	+	Missense_Mutation	SNP	A	A	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr15:75901947A>C	ENST00000564644.1	-	6	1032	c.454T>G	c.(454-456)Ttt>Gtt	p.F152V	SNUPN_ENST00000564675.1_Missense_Mutation_p.F152V|SNUPN_ENST00000308588.5_Missense_Mutation_p.F152V|SNUPN_ENST00000567134.1_Missense_Mutation_p.F152V|SNUPN_ENST00000371091.5_Missense_Mutation_p.F194V			O95149	SPN1_HUMAN	snurportin 1	152	Necessary for interaction with XPO1.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						AGTGAAGAAAACCTGTTGACA	0.453																																																0			15											110.0	110.0	110.0					15																	75901947		2197	4294	6491	73689002	SO:0001583	missense	10073			AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"""RNA, U transporter 1"""	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.454T>G	15.37:g.75901947A>C	ENSP00000454852:p.Phe152Val		73689002	A6NE34|A8K0B0|D3DW76	Missense_Mutation	SNP	NULL	p.F152V	ENST00000564644.1	37	c.454	CCDS10281.1	15	.	.	.	.	.	.	.	.	.	.	a	22.8	4.337976	0.81911	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	T;T	0.69040	-0.37;-0.37	5.4	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.76227	0.3958	M	0.82923	2.615	0.80722	D	1	P;B	0.41159	0.74;0.223	P;B	0.50754	0.649;0.163	T	0.76195	-0.3048	10	0.49607	T	0.09	-12.3259	10.8234	0.46619	0.8585:0.0:0.0:0.1415	.	194;152	C9K0X5;O95149	.;SPN1_HUMAN	V	152;194	ENSP00000309831:F152V;ENSP00000360132:F194V	ENSP00000309831:F152V	F	-	1	0	SNUPN	73689002	1.000000	0.71417	0.931000	0.37212	0.896000	0.52359	5.136000	0.64783	0.881000	0.35993	0.445000	0.29226	TTT	-	NULL		0.453	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNUPN	protein_coding	OTTHUMT00000420332.1	A	NM_005701		73689002	-1	no_errors	NM_001042581	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
ROBO2	6092	genome.wustl.edu	37	3	76483952	76483952	+	Intron	SNP	C	C	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr3:76483952C>A	ENST00000487694.3	+	2	388					NM_001128929.2	NP_001122401.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGGAGAGCATCACACATGCCC	0.557																																																0			3																																								76566642	SO:0001627	intron_variant	401076			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000487694.3:c.109+497199C>A	3.37:g.76483952C>A			76566642	O43608|Q19AB4|Q19AB5	RNA	SNP	-	NULL	ENST00000487694.3	37	NULL	CCDS54609.1	3																																																																																			-	-		0.557	ROBO2-013	NOVEL	basic|CCDS	protein_coding	LOC401076	protein_coding	OTTHUMT00000467720.1	C	XM_031246		76566642	+1	pseudogene	XR_016406	genbank	human	model	54_36p	rna	SNP	0.948	A
ADAMTS7	11173	genome.wustl.edu	37	15	79069115	79069115	+	Silent	SNP	G	G	A	rs143665439		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr15:79069115G>A	ENST00000388820.4	-	10	1746	c.1536C>T	c.(1534-1536)gaC>gaT	p.D512D	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	512	Disintegrin.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						ACCGGGTGCCGTCCACAGCTG	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16472	0.0		0.0	False		,,,				2504	0.0															0			15						G		1,4245		0,1,2122	80.0	59.0	66.0		1536	-8.2	0.4	15	dbSNP_134	66	4,8320		0,4,4158	no	coding-synonymous	ADAMTS7	NM_014272.3		0,5,6280	AA,AG,GG		0.0481,0.0236,0.0398		512/1687	79069115	5,12565	2123	4162	6285	76856170	SO:0001819	synonymous_variant	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1536C>T	15.37:g.79069115G>A			76856170	Q14F51|Q6P7J9	Silent	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1"	p.D512	ENST00000388820.4	37	c.1536	CCDS32303.1	15																																																																																			-	NULL		0.627	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	protein_coding	OTTHUMT00000421331.1	G	NM_014272		76856170	-1	no_errors	NM_014272	genbank	human	reviewed	54_36p	silent	SNP	0.999	A
FRAS1	80144	genome.wustl.edu	37	4	79387503	79387503	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr4:79387503G>A	ENST00000264895.6	+	50	7611	c.7171G>A	c.(7171-7173)Ggc>Agc	p.G2391S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2391					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.G2391S(3)|p.G2392S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGCCATGACGGCAGTAACTC	0.527																																																4	Substitution - Missense(4)	central_nervous_system(3)|ovary(1)	4											78.0	80.0	79.0					4																	79387503		2128	4237	6365	79606527	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7171G>A	4.37:g.79387503G>A	ENSP00000264895:p.Gly2391Ser		79606527	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	HMMSmart_SM00214,HMMSmart_SM00215,PatternScan_VWFC_1,HMMPfam_VWC,superfamily_Growth factor receptor domain,HMMSmart_SM00261,HMMSmart_SM00181,HMMSmart_SM00237,HMMPfam_Calx-beta	p.G2392S	ENST00000264895.6	37	c.7174	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.35|15.35	2.806409|2.806409	0.50421|0.50421	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.26223|.	1.75|.	5.53|5.53	4.69|4.69	0.59074|0.59074	.|.	0.297141|.	0.36665|.	N|.	0.002479|.	T|T	0.75693|0.75693	0.3884|0.3884	M|M	0.76002|0.76002	2.32|2.32	0.80722|0.80722	D|D	1|1	P|.	0.45902|.	0.868|.	B|.	0.35655|.	0.207|.	T|T	0.75399|0.75399	-0.3331|-0.3331	10|5	0.62326|.	D|.	0.03|.	.|.	17.8279|17.8279	0.88671|0.88671	0.0652:0.0:0.9348:0.0|0.0652:0.0:0.9348:0.0	.|.	2391|.	E9PHH6|.	.|.	S|Q	2391|619	ENSP00000264895:G2391S|.	ENSP00000264895:G2391S|.	G|R	+|+	1|2	0|0	FRAS1|FRAS1	79606527|79606527	1.000000|1.000000	0.71417|0.71417	0.916000|0.916000	0.36221|0.36221	0.715000|0.715000	0.41141|0.41141	7.713000|7.713000	0.84693|0.84693	0.830000|0.830000	0.34757|0.34757	-1.128000|-1.128000	0.01989|0.01989	GGC|CGG	-	NULL		0.527	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	protein_coding		G			79606527	+1	no_errors	ENST00000380674	ensembl	human	known	54_36p	missense	SNP	1.000	A
VDAC1	7416	genome.wustl.edu	37	X	80185127	80185127	+	IGR	SNP	C	C	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrX:80185127C>G								RNU6-493P (28764 upstream) : RNU6-995P (6805 downstream)																							AATTTACAAGCTCAAGCTCAG	0.443																																																0			X																																								80071783	SO:0001628	intergenic_variant	0																															X.37:g.80185127C>G			80071783		RNA	SNP	-	NULL		37	NULL		X																																																																																			-	-	0	0.443					LOC642585			C			80071783	+1	pseudogene	XR_038848	genbank	human	model	54_36p	rna	SNP	1.000	G
CACNA2D1	781	genome.wustl.edu	37	7	81588661	81588661	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr7:81588661T>C	ENST00000356253.5	-	38	3380	c.3125A>G	c.(3124-3126)aAt>aGt	p.N1042S	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.N1030S|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.N242S			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1042					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GTCACAAGGATTTGGACCGTC	0.353																																																0			7											111.0	102.0	105.0					7																	81588661		2203	4300	6503	81426597	SO:0001583	missense	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.3125A>G	7.37:g.81588661T>C	ENSP00000348589:p.Asn1042Ser		81426597	Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	HMMPfam_VWA_N,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_Cache_1,HMMPfam_VGCC_alpha2	p.N1030S	ENST00000356253.5	37	c.3089		7	.	.	.	.	.	.	.	.	.	.	T	16.34	3.095867	0.56075	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.64991	-0.13;-0.13;-0.13	5.84	5.84	0.93424	.	0.206118	0.49916	D	0.000126	T	0.59115	0.2170	L	0.46157	1.445	0.32933	D	0.51735	B;B	0.24721	0.11;0.053	B;B	0.33042	0.157;0.138	T	0.63107	-0.6711	10	0.18276	T	0.48	-15.3274	16.2135	0.82186	0.0:0.0:0.0:1.0	.	242;1030	B7Z658;P54289-2	.;.	S	1030;1049;1042;242	ENSP00000349320:N1030S;ENSP00000348589:N1042S;ENSP00000443124:N242S	ENSP00000284088:N1049S	N	-	2	0	CACNA2D1	81426597	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	7.492000	0.81482	2.227000	0.72691	0.460000	0.39030	AAT	-	NULL		0.353	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	protein_coding		T			81426597	-1	no_errors	NM_000722	genbank	human	reviewed	54_36p	missense	SNP	0.999	C
CYLC1	1538	genome.wustl.edu	37	X	83128001	83128001	+	Silent	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrX:83128001G>A	ENST00000329312.4	+	4	322	c.285G>A	c.(283-285)agG>agA	p.R95R		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	95					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CAGCTGCCAGGGAACAGACTC	0.373																																																0			X											39.0	37.0	38.0					X																	83128001		2201	4294	6495	83014657	SO:0001819	synonymous_variant	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.285G>A	X.37:g.83128001G>A			83014657	A0AVQ8|Q5JQQ9	Silent	SNP	NULL	p.R95	ENST00000329312.4	37	c.285	CCDS35341.1	X																																																																																			-	NULL		0.373	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	protein_coding	OTTHUMT00000057371.1	G	NM_021118		83014657	+1	no_errors	NM_021118	genbank	human	provisional	54_36p	silent	SNP	0.001	A
SPATA31E1	286234	genome.wustl.edu	37	9	90501393	90501393	+	Missense_Mutation	SNP	C	C	G	rs146480415		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr9:90501393C>G	ENST00000325643.5	+	4	2057	c.1991C>G	c.(1990-1992)cCc>cGc	p.P664R		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	664					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCAGGGAGGCCCCAGAGTCAG	0.617																																																0			9											37.0	46.0	43.0					9																	90501393		2203	4299	6502	89691213	SO:0001583	missense	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1991C>G	9.37:g.90501393C>G	ENSP00000322640:p.Pro664Arg		89691213	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	NULL	p.P664R	ENST00000325643.5	37	c.1991	CCDS6676.1	9	.	.	.	.	.	.	.	.	.	.	c	2.409	-0.335875	0.05278	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.06933	3.24	1.83	-1.49	0.08718	.	2.760280	0.01313	N	0.010686	T	0.07413	0.0187	N	0.19112	0.55	0.09310	N	1	D;P	0.54772	0.968;0.793	P;B	0.49332	0.607;0.252	T	0.21449	-1.0245	10	0.15499	T	0.54	.	2.865	0.05599	0.3769:0.2724:0.3506:0.0	.	664;316	Q6ZUB1;Q8NA33	CI079_HUMAN;.	R	664;316	ENSP00000322640:P664R	ENSP00000322640:P664R	P	+	2	0	C9orf79	89691213	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	-0.050000	0.11904	-0.448000	0.07128	-0.357000	0.07601	CCC	-	NULL		0.617	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf79	protein_coding	OTTHUMT00000052954.2	C	NM_178828		89691213	+1	no_errors	NM_178828	genbank	human	validated	54_36p	missense	SNP	0.002	G
SLCO3A1	28232	genome.wustl.edu	37	15	92663856	92663856	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr15:92663856C>G	ENST00000318445.6	+	5	1385	c.1171C>G	c.(1171-1173)Ctt>Gtt	p.L391V	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.L391V|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	391					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)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CAACCAGCTGCTTGGTGAGTG	0.562																																																0			15											120.0	117.0	118.0					15																	92663856		2198	4298	6496	90464860	SO:0001583	missense	28232			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1171C>G	15.37:g.92663856C>G	ENSP00000320634:p.Leu391Val		90464860	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	superfamily_MFS general substrate transporter,HMMPfam_OATP,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2	p.L391V	ENST00000318445.6	37	c.1171	CCDS10371.1	15	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309135	0.40895	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	D;D	0.81908	-1.55;-1.55	5.36	5.36	0.76844	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000001	D	0.83543	0.5277	L	0.39245	1.2	0.80722	D	1	D;D;P	0.76494	0.973;0.999;0.592	P;D;B	0.66602	0.64;0.945;0.349	T	0.78573	-0.2152	10	0.13470	T	0.59	.	9.7448	0.40440	0.0:0.8467:0.0:0.1533	.	333;391;391	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	V	391;391;110	ENSP00000320634:L391V;ENSP00000387846:L391V	ENSP00000320634:L391V	L	+	1	0	SLCO3A1	90464860	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.854000	0.48325	2.501000	0.84356	0.650000	0.86243	CTT	-	superfamily_MFS general substrate transporter,HMMPfam_OATP		0.562	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	protein_coding	OTTHUMT00000313529.1	C	NM_013272		90464860	+1	no_errors	NM_013272	genbank	human	validated	54_36p	missense	SNP	1.000	G
ASPN	54829	genome.wustl.edu	37	9	95236930	95236930	+	Nonsense_Mutation	SNP	G	G	A	rs148382623		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr9:95236930G>A	ENST00000375544.3	-	2	493	c.250C>T	c.(250-252)Cga>Tga	p.R84*	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000395538.3_Nonsense_Mutation_p.R84*|ASPN_ENST00000375543.1_Nonsense_Mutation_p.R84*|ASPN_ENST00000450139.2_Nonsense_Mutation_p.R56*	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	84	Cys-rich.|LRRNT.				bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R84R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TGTACAACTCGTGAATAGCAC	0.348																																																1	Substitution - coding silent(1)	large_intestine(1)	9						G	,stop/ARG,stop/ARG	0,4406		0,0,2203	116.0	106.0	109.0		,250,250	3.1	0.8	9	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	intron,stop-gained,stop-gained	ASPN,CENPP	NM_001012267.1,NM_001193335.1,NM_017680.4	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	,84/244,84/381	95236930	1,13005	2203	4300	6503	94276751	SO:0001587	stop_gained	54829			AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.250C>T	9.37:g.95236930G>A	ENSP00000364694:p.Arg84*		94276751	Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Nonsense_Mutation	SNP	superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRR_1	p.R84*	ENST00000375544.3	37	c.250		9	.	.	.	.	.	.	.	.	.	.	G	37	6.036759	0.97226	0.0	1.16E-4	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538;ENST00000450139	.	.	.	5.3	3.14	0.36123	.	0.202350	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9741	0.58529	0.0:0.0:0.2013:0.7987	.	.	.	.	X	84;84;84;56	.	ENSP00000364693:R84X	R	-	1	2	ASPN	94276751	1.000000	0.71417	0.820000	0.32676	0.994000	0.84299	3.412000	0.52679	0.556000	0.29098	0.650000	0.86243	CGA	-	superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT		0.348	ASPN-001	KNOWN	basic|appris_principal	protein_coding	ASPN	protein_coding	OTTHUMT00000053094.1	G	NM_017680		94276751	-1	no_errors	NM_017680	genbank	human	validated	54_36p	nonsense	SNP	0.802	A
MUC17	140453	genome.wustl.edu	37	7	100681050	100681050	+	Missense_Mutation	SNP	A	A	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr7:100681050A>G	ENST00000306151.4	+	3	6417	c.6353A>G	c.(6352-6354)gAg>gGg	p.E2118G		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2118	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCAGTCCTGAGGCTAGCACC	0.502																																																0			7											216.0	219.0	218.0					7																	100681050		2203	4300	6503	100467770	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6353A>G	7.37:g.100681050A>G	ENSP00000302716:p.Glu2118Gly		100467770	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA	p.E2118G	ENST00000306151.4	37	c.6353	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	a	1.616	-0.522823	0.04141	.	.	ENSG00000169876	ENST00000306151	T	0.02737	4.18	0.942	-1.88	0.07713	.	.	.	.	.	T	0.01523	0.0049	L	0.29908	0.895	0.09310	N	1	P	0.42993	0.797	B	0.31686	0.134	T	0.43442	-0.9391	9	0.24483	T	0.36	.	2.2448	0.04029	0.2928:0.2358:0.0:0.4714	.	2118	Q685J3	MUC17_HUMAN	G	2118	ENSP00000302716:E2118G	ENSP00000302716:E2118G	E	+	2	0	MUC17	100467770	0.023000	0.18921	0.000000	0.03702	0.038000	0.13279	1.659000	0.37387	-1.250000	0.02497	0.113000	0.15668	GAG	-	NULL		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	A	NM_001040105		100467770	+1	no_errors	NM_001040105	genbank	human	provisional	54_36p	missense	SNP	0.244	G
PKD2L1	9033	genome.wustl.edu	37	10	102059462	102059462	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr10:102059462C>T	ENST00000318222.3	-	3	745	c.363G>A	c.(361-363)atG>atA	p.M121I	PKD2L1_ENST00000353274.3_Missense_Mutation_p.M121I|PKD2L1_ENST00000338519.3_Missense_Mutation_p.M121I	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	121					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGGAGCTTGTCATTCCATAGG	0.483																																																0			10											161.0	137.0	145.0					10																	102059462		2203	4300	6503	102049452	SO:0001583	missense	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.363G>A	10.37:g.102059462C>T	ENSP00000325296:p.Met121Ile		102049452	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels	p.M121I	ENST00000318222.3	37	c.363	CCDS7492.1	10	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957728	0.92726	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.60548	0.34;0.18;0.24	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.76234	0.3959	M	0.83384	2.64	0.54753	D	0.999984	D;D	0.76494	0.999;0.983	D;P	0.67900	0.954;0.852	T	0.74084	-0.3779	10	0.22706	T	0.39	-26.8559	17.9675	0.89103	0.0:1.0:0.0:0.0	.	74;121	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	I	121	ENSP00000345068:M121I;ENSP00000266049:M121I;ENSP00000325296:M121I	ENSP00000325296:M121I	M	-	3	0	PKD2L1	102049452	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.441000	0.80485	2.480000	0.83734	0.555000	0.69702	ATG	-	NULL		0.483	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	protein_coding	OTTHUMT00000049863.2	C	NM_016112		102049452	-1	no_errors	NM_016112	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ACSL4	2182	genome.wustl.edu	37	X	108912275	108912275	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrX:108912275G>A	ENST00000469796.2	-	10	1649	c.1253C>T	c.(1252-1254)cCt>cTt	p.P418L	ACSL4_ENST00000348502.6_Missense_Mutation_p.P377L|ACSL4_ENST00000340800.2_Missense_Mutation_p.P418L			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	418					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	ATTGCAAAGAGGTGCATCATA	0.323																																					Pancreas(188;358 2127 38547 41466 45492)											0			X											144.0	136.0	139.0					X																	108912275		2203	4298	6501	108798931	SO:0001583	missense	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1253C>T	X.37:g.108912275G>A	ENSP00000419171:p.Pro418Leu		108798931	D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING	p.P418L	ENST00000469796.2	37	c.1253	CCDS14548.1	X	.	.	.	.	.	.	.	.	.	.	g	21.6	4.172833	0.78452	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.37915	1.19;1.17;1.17	5.21	5.21	0.72293	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.54775	0.1879	L	0.47016	1.485	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.54503	-0.8284	10	0.51188	T	0.08	-11.1451	18.1261	0.89586	0.0:0.0:1.0:0.0	.	418	O60488	ACSL4_HUMAN	L	377;418;418	ENSP00000262835:P377L;ENSP00000419171:P418L;ENSP00000339787:P418L	ENSP00000339787:P418L	P	-	2	0	ACSL4	108798931	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.809000	0.99208	2.303000	0.77524	0.597000	0.82753	CCT	-	superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding		0.323	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	protein_coding	OTTHUMT00000358155.2	G	NM_004458		108798931	-1	no_errors	NM_022977	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
EBAG9	9166	genome.wustl.edu	37	8	110563124	110563124	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr8:110563124G>C	ENST00000337573.5	+	2	371	c.71G>C	c.(70-72)aGa>aCa	p.R24T	EBAG9_ENST00000531677.1_Missense_Mutation_p.R24T|EBAG9_ENST00000395785.2_Missense_Mutation_p.R24T|EBAG9_ENST00000529502.1_3'UTR	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	24					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TTCCTAAAGAGATTAATATGC	0.393																																																0			8											67.0	61.0	63.0					8																	110563124		2200	4295	6495	110632300	SO:0001583	missense	9166			AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.71G>C	8.37:g.110563124G>C	ENSP00000337675:p.Arg24Thr		110632300	A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	NULL	p.R24T	ENST00000337573.5	37	c.71	CCDS6313.1	8	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456289	0.63401	.	.	ENSG00000147654	ENST00000395785;ENST00000337573;ENST00000530629;ENST00000534318;ENST00000531677	.	.	.	5.76	5.76	0.90799	.	0.039459	0.85682	D	0.000000	T	0.62514	0.2434	M	0.78637	2.42	0.58432	D	0.999995	B	0.34329	0.449	B	0.31614	0.133	T	0.67090	-0.5758	9	0.87932	D	0	-9.4004	12.5841	0.56408	0.0838:0.0:0.9162:0.0	.	24	O00559	RCAS1_HUMAN	T	24	.	ENSP00000337675:R24T	R	+	2	0	EBAG9	110632300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.234000	0.65343	2.880000	0.98712	0.650000	0.86243	AGA	-	NULL		0.393	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBAG9	protein_coding	OTTHUMT00000383536.1	G	NM_004215		110632300	+1	no_errors	NM_004215	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
DOCK4	9732	genome.wustl.edu	37	7	111418330	111418330	+	Splice_Site	SNP	A	A	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr7:111418330A>T	ENST00000437633.1	-	35	3909		c.e35+1		DOCK4_ENST00000494651.2_Splice_Site|DOCK4_ENST00000428084.1_Splice_Site	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4						cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AGACAGAATTACCTGTAAAGT	0.378																																																0			7											136.0	128.0	131.0					7																	111418330		1855	4100	5955	111205566	SO:0001630	splice_region_variant	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3652+1T>A	7.37:g.111418330A>T			111205566	O14584|O94824|Q8NB45	Splice_Site	SNP	-	e35+2	ENST00000437633.1	37	c.3652+2	CCDS47688.1	7	.	.	.	.	.	.	.	.	.	.	A	26.3	4.722834	0.89298	.	.	ENSG00000128512	ENST00000352877;ENST00000423057;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000445943;ENST00000342288;ENST00000437129;ENST00000450156;ENST00000417165	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK4	111205566	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	9.257000	0.95545	2.333000	0.79357	0.533000	0.62120	.	-	-		0.378	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	protein_coding	OTTHUMT00000338369.4	A	NM_014705	Intron	111205566	-1	no_errors	NM_014705	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T
CSMD3	114788	genome.wustl.edu	37	8	113349022	113349022	+	Missense_Mutation	SNP	G	G	T	rs557032105		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr8:113349022G>T	ENST00000297405.5	-	44	7122	c.6878C>A	c.(6877-6879)aCc>aAc	p.T2293N	CSMD3_ENST00000343508.3_Missense_Mutation_p.T2253N|CSMD3_ENST00000352409.3_Missense_Mutation_p.T2223N|CSMD3_ENST00000455883.2_Missense_Mutation_p.T2189N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2293	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAATAAATGGTGCCATTCAT	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0			8											82.0	76.0	78.0					8																	113349022		2203	4300	6503	113418198	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6878C>A	8.37:g.113349022G>T	ENSP00000297405:p.Thr2293Asn		113418198	Q96PZ3	Missense_Mutation	SNP	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10	p.T2293N	ENST00000297405.5	37	c.6878	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939355	0.92526	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11	5.64	5.64	0.86602	CUB (5);	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	L	0.61036	1.89	0.80722	D	1	D;D;D	0.89917	1.0;0.99;1.0	D;D;D	0.87578	0.998;0.984;0.996	T	0.71083	-0.4695	10	0.40728	T	0.16	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	2189;2293;2253	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	2253;2293;1563;2189;2223	ENSP00000345799:T2253N;ENSP00000297405:T2293N;ENSP00000341558:T1563N;ENSP00000412263:T2189N;ENSP00000343124:T2223N	ENSP00000297405:T2293N	T	-	2	0	CSMD3	113418198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.937000	0.99478	0.650000	0.86243	ACC	-	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	G	NM_052900		113418198	-1	no_errors	NM_198123	genbank	human	validated	54_36p	missense	SNP	1.000	T
CIT	11113	genome.wustl.edu	37	12	120313967	120313967	+	Silent	SNP	C	C	T	rs140692057		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr12:120313967C>T	ENST00000261833.7	-	2	58	c.6G>A	c.(4-6)ttG>ttA	p.L2L	CIT_ENST00000392521.2_Silent_p.L2L	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	2					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATTTGAACTTCAACATCTCCC	0.507																																																0			12											73.0	74.0	74.0					12																	120313967		2203	4300	6503	118798350	SO:0001819	synonymous_variant	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.6G>A	12.37:g.120313967C>T			118798350	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C,PatternScan_CPSASE_2,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00036,HMMPfam_CNH	p.L2	ENST00000261833.7	37	c.6	CCDS9192.1	12																																																																																			-	NULL		0.507	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	protein_coding	OTTHUMT00000259410.4	C	NM_007174		118798350	-1	no_errors	NM_007174	genbank	human	validated	54_36p	silent	SNP	1.000	T
ARHGAP31	57514	genome.wustl.edu	37	3	119133999	119133999	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr3:119133999G>A	ENST00000264245.4	+	12	3755	c.3223G>A	c.(3223-3225)Gtg>Atg	p.V1075M		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1075					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TTCACCCAGCGTGCAGGACAG	0.572																																					Pancreas(7;176 297 5394 51128 51241)											0			3											164.0	178.0	173.0					3																	119133999		2125	4247	6372	120616689	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3223G>A	3.37:g.119133999G>A	ENSP00000264245:p.Val1075Met		120616689	Q9ULL6	Missense_Mutation	SNP	superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP	p.V1075M	ENST00000264245.4	37	c.3223	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	0.064	-1.218044	0.01542	.	.	ENSG00000031081	ENST00000264245	T	0.07021	3.23	5.39	-1.6	0.08426	.	0.971786	0.08423	N	0.947964	T	0.05181	0.0138	N	0.17082	0.46	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.43015	-0.9417	10	0.38643	T	0.18	.	7.2748	0.26277	0.3775:0.0:0.5124:0.11	.	1075	Q2M1Z3	RHG31_HUMAN	M	1075	ENSP00000264245:V1075M	ENSP00000264245:V1075M	V	+	1	0	ARHGAP31	120616689	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.295000	0.08298	-0.465000	0.06953	-1.170000	0.01741	GTG	-	NULL		0.572	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDGAP	protein_coding	OTTHUMT00000354942.2	G			120616689	+1	no_errors	NM_020754	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
BRINP1	1620	genome.wustl.edu	37	9	121929934	121929934	+	Missense_Mutation	SNP	A	A	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr9:121929934A>C	ENST00000265922.3	-	8	2175	c.1714T>G	c.(1714-1716)Tcg>Gcg	p.S572A	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	572					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CAGCCCTCCGAATGGCTCCCG	0.562																																																0			9											43.0	44.0	43.0					9																	121929934		2203	4296	6499	120969755	SO:0001583	missense	1620			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1714T>G	9.37:g.121929934A>C	ENSP00000265922:p.Ser572Ala		120969755	Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	HMMSmart_SM00457	p.S572A	ENST00000265922.3	37	c.1714	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089783	0.55968	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.18960	2.18	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	M	0.61703	1.905	0.80722	D	1	P	0.44690	0.841	P	0.51170	0.661	T	0.09618	-1.0666	10	0.66056	D	0.02	-9.3865	15.8802	0.79197	1.0:0.0:0.0:0.0	.	572	O60477	DBC1_HUMAN	A	572	ENSP00000265922:S572A	ENSP00000265922:S572A	S	-	1	0	DBC1	120969755	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	9.243000	0.95416	2.145000	0.66743	0.533000	0.62120	TCG	-	NULL		0.562	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	protein_coding	OTTHUMT00000055440.2	A	NM_014618		120969755	-1	no_errors	NM_014618	genbank	human	validated	54_36p	missense	SNP	1.000	C
ANXA5	308	genome.wustl.edu	37	4	122589673	122589673	+	Missense_Mutation	SNP	A	A	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr4:122589673A>T	ENST00000296511.5	-	13	1198	c.913T>A	c.(913-915)Tct>Act	p.S305T	ANXA5_ENST00000501272.2_Missense_Mutation_p.S245T|ANXA5_ENST00000515017.1_Missense_Mutation_p.S205T	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	305					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						TAGTCCCCAGATGTATCTCCC	0.438																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)											0			4											157.0	137.0	144.0					4																	122589673		2203	4300	6503	122809123	SO:0001583	missense	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.913T>A	4.37:g.122589673A>T	ENSP00000296511:p.Ser305Thr		122809123	D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Missense_Mutation	SNP	superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_SM00335	p.S305T	ENST00000296511.5	37	c.913	CCDS3720.1	4	.	.	.	.	.	.	.	.	.	.	A	17.51	3.407476	0.62399	.	.	ENSG00000164111	ENST00000296511;ENST00000512232;ENST00000501272;ENST00000515017	T;T;T	0.05996	3.36;3.36;3.36	5.77	4.59	0.56863	Annexin repeat, conserved site (1);	0.209202	0.50627	D	0.000106	T	0.26919	0.0659	M	0.92026	3.265	0.53688	D	0.999978	P;B;P;B	0.41524	0.687;0.07;0.753;0.07	P;B;P;B	0.55055	0.767;0.058;0.53;0.058	T	0.01884	-1.1254	10	0.87932	D	0	.	11.4446	0.50116	0.9288:0.0:0.0712:0.0	.	205;245;261;305	D6RBE9;D6RBL5;E7ENQ5;P08758	.;.;.;ANXA5_HUMAN	T	305;261;245;205	ENSP00000296511:S305T;ENSP00000424106:S245T;ENSP00000424199:S205T	ENSP00000296511:S305T	S	-	1	0	ANXA5	122809123	0.942000	0.31987	0.821000	0.32701	0.600000	0.36913	1.785000	0.38684	1.010000	0.39314	-0.263000	0.10527	TCT	-	superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_SM00335		0.438	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA5	protein_coding	OTTHUMT00000256636.2	A	NM_001154		122809123	-1	no_errors	NM_001154	genbank	human	reviewed	54_36p	missense	SNP	0.999	T
STRIP2	57464	genome.wustl.edu	37	7	129096376	129096376	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr7:129096376G>C	ENST00000249344.2	+	9	971	c.931G>C	c.(931-933)Gtg>Ctg	p.V311L	STRIP2_ENST00000435494.2_Missense_Mutation_p.V311L	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	311					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											TATCCAGGTGGTGAAGAGCAT	0.592																																																0			7											97.0	89.0	92.0					7																	129096376		2203	4300	6503	128883612	SO:0001583	missense	57464			AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.931G>C	7.37:g.129096376G>C	ENSP00000249344:p.Val311Leu		128883612	Q8WUZ4	Missense_Mutation	SNP	HMMPfam_N1221	p.V311L	ENST00000249344.2	37	c.931	CCDS34752.1	7	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141837	0.57044	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.45668	0.9;0.89	5.8	5.8	0.92144	.	0.131490	0.50627	D	0.000110	T	0.39226	0.1070	L	0.57536	1.79	0.48135	D	0.999597	P;B	0.39216	0.664;0.037	B;B	0.37888	0.26;0.124	T	0.14924	-1.0455	10	0.28530	T	0.3	-21.404	12.0114	0.53289	0.0789:0.0:0.9211:0.0	.	311;311	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	L	311	ENSP00000249344:V311L;ENSP00000392393:V311L	ENSP00000249344:V311L	V	+	1	0	FAM40B	128883612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.963000	0.49184	2.758000	0.94735	0.561000	0.74099	GTG	-	HMMPfam_N1221		0.592	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM40B	protein_coding	OTTHUMT00000349418.1	G	NM_001134336		128883612	+1	no_errors	NM_020704	genbank	human	validated	54_36p	missense	SNP	1.000	C
LRP1B	53353	genome.wustl.edu	37	2	141294205	141294205	+	Silent	SNP	G	G	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr2:141294205G>T	ENST00000389484.3	-	46	8558	c.7587C>A	c.(7585-7587)acC>acA	p.T2529T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2529	LDL-receptor class A 11. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGCCATCACAGGTGAGCTGGT	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0			2											134.0	130.0	132.0					2																	141294205		2203	4300	6503	141010675	SO:0001819	synonymous_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7587C>A	2.37:g.141294205G>T			141010675	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_SSF63825,HMMSmart_LY,HMMPfam_Ldl_recept_b,HMMPfam_EGF,HMMPfam_NHL,HMMPfam_EGF_2,PatternScan_EGF_1	p.T2529	ENST00000389484.3	37	c.7587	CCDS2182.1	2																																																																																			-	superfamily_SSF63825,superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	G	NM_018557		141010675	-1	no_errors	NM_018557	genbank	human	validated	54_36p	silent	SNP	0.999	T
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	C	C	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrUnknown:0C>A								None (None upstream) : None (None downstream)																								0.0																																																0			7																																								141924744	SO:0001628	intergenic_variant	0																															Unknown.37:g.0C>A			141924744		Missense_Mutation	SNP	HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG	p.F74L		37	c.222		7																																																																																			-	HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG	0	0					ENSG00000211736			C			141924744	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390383	ensembl	human	known	54_36p	missense	SNP	0.008	A
SPANXN2	494119	genome.wustl.edu	37	X	142795577	142795577	+	Missense_Mutation	SNP	A	A	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrX:142795577A>C	ENST00000370498.1	-	2	854	c.101T>G	c.(100-102)gTc>gGc	p.V34G		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	34										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGCTAAGACCCTGTTCGG	0.403																																																0			X											113.0	99.0	104.0					X																	142795577		2203	4300	6503	142623243	SO:0001583	missense	494119				CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.101T>G	X.37:g.142795577A>C	ENSP00000359529:p.Val34Gly		142623243	Q0ZNM2	Missense_Mutation	SNP	HMMPfam_SPAN-X	p.V34G	ENST00000370498.1	37	c.101	CCDS35419.1	X	.	.	.	.	.	.	.	.	.	.	A	0.338	-0.952093	0.02285	.	.	ENSG00000203924	ENST00000370498	T	0.07114	3.22	0.636	-1.27	0.09347	.	.	.	.	.	T	0.07683	0.0193	L	0.44542	1.39	0.09310	N	1	P	0.43542	0.81	P	0.45946	0.498	T	0.13845	-1.0494	8	0.33141	T	0.24	.	.	.	.	.	34	Q5MJ10	SPXN2_HUMAN	G	34	ENSP00000359529:V34G	ENSP00000359529:V34G	V	-	2	0	SPANXN2	142623243	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.429000	0.02437	-1.977000	0.00994	-1.111000	0.02071	GTC	-	HMMPfam_SPAN-X		0.403	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN2	protein_coding	OTTHUMT00000058621.2	A	NM_001009615		142623243	-1	no_errors	NM_001009615	genbank	human	provisional	54_36p	missense	SNP	0.000	C
ADAMTSL4	54507	genome.wustl.edu	37	1	150532625	150532625	+	Missense_Mutation	SNP	C	C	T	rs145169593	byFrequency	TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:150532625C>T	ENST00000369038.2	+	17	3379	c.3178C>T	c.(3178-3180)Cgc>Tgc	p.R1060C	ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R1060C|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R1083C|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	1060	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CACCTGTTGCCGCTCTTGCGC	0.607											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			1											119.0	102.0	107.0					1																	150532625		2203	4300	6503	148799249	SO:0001583	missense	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.3178C>T	1.37:g.150532625C>T	ENSP00000358034:p.Arg1060Cys	1733	148799249	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC	p.R1060C	ENST00000369038.2	37	c.3178	CCDS955.1	1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044477	0.75732	.	.	ENSG00000143382	ENST00000271643;ENST00000369039;ENST00000369038	T;T;T	0.50813	0.73;0.73;0.73	5.26	5.26	0.73747	PLAC (2);	.	.	.	.	T	0.48409	0.1498	L	0.42245	1.32	0.52501	D	0.999951	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74023	0.982;0.962;0.973	T	0.51608	-0.8684	9	0.54805	T	0.06	.	9.8983	0.41331	0.0:0.9072:0.0:0.0928	.	1021;1083;1060	B7ZMJ3;F8WAD0;Q6UY14	.;.;ATL4_HUMAN	C	1060;1083;1060	ENSP00000271643:R1060C;ENSP00000358035:R1083C;ENSP00000358034:R1060C	ENSP00000271643:R1060C	R	+	1	0	ADAMTSL4	148799249	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.049000	0.57397	2.456000	0.83038	0.561000	0.74099	CGC	-	HMMPfam_PLAC		0.607	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	protein_coding	OTTHUMT00000084395.4	C	NM_019032		148799249	+1	no_errors	NM_019032	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
GYG1	2992	genome.wustl.edu	37	3	148744247	148744247	+	Missense_Mutation	SNP	C	C	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr3:148744247C>A	ENST00000345003.4	+	7	1137	c.837C>A	c.(835-837)gaC>gaA	p.D279E	GYG1_ENST00000484197.1_Intron|GYG1_ENST00000296048.6_Intron|GYG1_ENST00000479119.1_Intron	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	279					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogenin glucosyltransferase activity (GO:0008466)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGCTTTCAGACTTGGTCTATA	0.398																																																0			3											202.0	193.0	196.0					3																	148744247		2202	4300	6502	150226937	SO:0001583	missense	2992			AF087942	CCDS3139.1, CCDS54654.1, CCDS54655.1	3q24-q25.1	2013-02-22	2005-11-04	2005-11-04	ENSG00000163754	ENSG00000163754	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4699	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	603942	"""glycogenin"""	GYG		8602861	Standard	NM_004130		Approved		uc003ewn.3	P46976	OTTHUMG00000159533	ENST00000345003.4:c.837C>A	3.37:g.148744247C>A	ENSP00000340736:p.Asp279Glu		150226937	D3DNH0|D3DNH1|D3DNH2|Q6FHZ1|Q9UNV0	Missense_Mutation	SNP	superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_8	p.D279E	ENST00000345003.4	37	c.837	CCDS3139.1	3	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350754	0.24512	.	.	ENSG00000163754	ENST00000345003	T	0.62232	0.04	5.43	4.36	0.52297	.	0.920136	0.09372	N	0.811192	T	0.50582	0.1624	L	0.36672	1.1	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34304	-0.9834	10	0.02654	T	1	-25.2054	15.0639	0.71977	0.0:0.9199:0.0:0.0801	.	279	P46976	GLYG_HUMAN	E	279	ENSP00000340736:D279E	ENSP00000340736:D279E	D	+	3	2	GYG1	150226937	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.403000	0.59729	2.545000	0.85829	0.563000	0.77884	GAC	-	NULL		0.398	GYG1-001	KNOWN	basic|CCDS	protein_coding	GYG1	protein_coding	OTTHUMT00000356046.1	C	NM_004130		150226937	+1	no_errors	NM_004130	genbank	human	provisional	54_36p	missense	SNP	1.000	A
CNGA2	1260	genome.wustl.edu	37	X	150906978	150906978	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrX:150906978T>C	ENST00000329903.4	+	1	56	c.23T>C	c.(22-24)gTg>gCg	p.V8A		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	8					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAATGGTGTGAAGAGCTCC	0.522																																																0			X											193.0	143.0	160.0					X																	150906978		2203	4300	6503	150657634	SO:0001583	missense	1260			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.23T>C	X.37:g.150906978T>C	ENSP00000328478:p.Val8Ala		150657634	A0AVD0	Missense_Mutation	SNP	superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2	p.V8A	ENST00000329903.4	37	c.23	CCDS14701.1	X	.	.	.	.	.	.	.	.	.	.	T	8.245	0.807768	0.16467	.	.	ENSG00000183862	ENST00000329903	D	0.97811	-4.55	4.85	4.85	0.62838	.	0.343585	0.27397	N	0.019546	D	0.90933	0.7150	N	0.08118	0	0.26623	N	0.972621	B	0.17268	0.021	B	0.13407	0.009	T	0.79351	-0.1839	10	0.06494	T	0.89	.	9.6231	0.39734	0.0:0.0:0.0:1.0	.	8	Q16280	CNGA2_HUMAN	A	8	ENSP00000328478:V8A	ENSP00000328478:V8A	V	+	2	0	CNGA2	150657634	1.000000	0.71417	0.990000	0.47175	0.035000	0.12851	4.655000	0.61476	1.794000	0.52575	0.486000	0.48141	GTG	-	NULL		0.522	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA2	protein_coding	OTTHUMT00000060888.1	T	NM_005140		150657634	+1	no_errors	NM_005140	genbank	human	validated	54_36p	missense	SNP	1.000	C
UBE2Q1	55585	genome.wustl.edu	37	1	154523967	154523967	+	Splice_Site	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:154523967C>T	ENST00000292211.4	-	11	1155	c.1076G>A	c.(1075-1077)gGc>gAc	p.G359D	UBE2Q1_ENST00000497453.1_5'Flank|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	359					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACTGCTCCAGCCCTGGGTGAA	0.547																																																0			1											119.0	104.0	109.0					1																	154523967		2203	4300	6503	152790591	SO:0001630	splice_region_variant	55585			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.1075-1G>A	1.37:g.154523967C>T			152790591	B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con	p.G359D	ENST00000292211.4	37	c.1076	CCDS1069.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.136946	0.94517	.	.	ENSG00000160714	ENST00000292211	T	0.35973	1.28	5.3	5.3	0.74995	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.052927	0.85682	D	0.000000	T	0.54271	0.1848	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.56703	-0.7935	10	0.87932	D	0	-11.8142	17.7118	0.88324	0.0:1.0:0.0:0.0	.	359	Q7Z7E8	UB2Q1_HUMAN	D	359	ENSP00000292211:G359D	ENSP00000292211:G359D	G	-	2	0	UBE2Q1	152790591	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.461000	0.80834	2.763000	0.94921	0.561000	0.74099	GGC	-	superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con		0.547	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	protein_coding	OTTHUMT00000090704.1	C	NM_017582	Missense_Mutation	152790591	-1	no_errors	NM_017582	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
G6PD	2539	genome.wustl.edu	37	X	153760854	153760854	+	Missense_Mutation	SNP	C	C	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrX:153760854C>T	ENST00000393564.2	-	10	1327	c.1215G>A	c.(1213-1215)atG>atA	p.M405I	G6PD_ENST00000393562.2_Missense_Mutation_p.M435I|G6PD_ENST00000497281.1_5'Flank|G6PD_ENST00000369620.2_Missense_Mutation_p.M451I	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	405					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTTCTTGGTCATCATCTTGG	0.582																																																0			X	GRCh37	CM950513	G6PD	M							106.0	91.0	96.0					X																	153760854		2203	4300	6503	153414048	SO:0001583	missense	2539			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.1215G>A	X.37:g.153760854C>T	ENSP00000377194:p.Met405Ile		153414048	D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	superfamily_NAD(P)-bd,HMMPfam_G6PD_N,PatternScan_G6P_DEHYDROGENASE,superfamily_SSF55347,HMMPfam_G6PD_C	p.M435I	ENST00000393564.2	37	c.1305	CCDS44023.1	X	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110573	0.37242	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620	D;D;D	0.99811	-6.87;-6.87;-6.87	5.82	5.82	0.92795	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99408	0.9791	M	0.84846	2.72	0.80722	D	1	B;P	0.35982	0.399;0.531	B;B	0.37144	0.242;0.203	D	0.99960	1.1717	10	0.33141	T	0.24	.	16.3143	0.82909	0.0:1.0:0.0:0.0	.	405;435	P11413;P11413-3	G6PD_HUMAN;.	I	435;405;405;451	ENSP00000377192:M435I;ENSP00000377194:M405I;ENSP00000358633:M451I	ENSP00000291567:M405I	M	-	3	0	G6PD	153414048	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	4.468000	0.60162	2.457000	0.83068	0.597000	0.82753	ATG	-	superfamily_SSF55347,HMMPfam_G6PD_C		0.582	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	G6PD	protein_coding	OTTHUMT00000061170.3	C	NM_000402		153414048	-1	no_errors	NM_000402	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
DAP3	7818	genome.wustl.edu	37	1	155697476	155697476	+	Missense_Mutation	SNP	G	G	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:155697476G>T	ENST00000368336.5	+	7	674	c.550G>T	c.(550-552)Gct>Tct	p.A184S	DAP3_ENST00000535183.1_Missense_Mutation_p.A143S|DAP3_ENST00000343043.3_Missense_Mutation_p.A184S|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471642.2_Missense_Mutation_p.A143S|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.A150S	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	184					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ACCTTTAGAGGCTTCAACCTG	0.433																																																0			1											102.0	100.0	101.0					1																	155697476		2203	4300	6503	153964100	SO:0001583	missense	7818			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.550G>T	1.37:g.155697476G>T	ENSP00000357320:p.Ala184Ser		153964100	B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	HMMPfam_DAP3	p.A184S	ENST00000368336.5	37	c.550	CCDS1120.1	1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939875	0.92526	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.49432	0.99;0.99;0.78;1.02	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	M	0.67517	2.055	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.995	D;D;D;D	0.68943	0.936;0.961;0.961;0.961	T	0.59685	-0.7408	10	0.48119	T	0.1	-13.8922	18.6271	0.91344	0.0:0.0:1.0:0.0	.	143;150;150;184	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	S	184;184;150;143	ENSP00000357320:A184S;ENSP00000341692:A184S;ENSP00000412605:A150S;ENSP00000445003:A143S	ENSP00000341692:A184S	A	+	1	0	DAP3	153964100	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.306000	0.89962	2.717000	0.92951	0.585000	0.79938	GCT	-	HMMPfam_DAP3		0.433	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	protein_coding	OTTHUMT00000086042.1	G	NM_004632		153964100	+1	no_errors	NM_004632	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
FNDC1	84624	genome.wustl.edu	37	6	159636110	159636110	+	Silent	SNP	C	C	T	rs531853879		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr6:159636110C>T	ENST00000297267.9	+	5	794	c.594C>T	c.(592-594)taC>taT	p.Y198Y	FNDC1_ENST00000340366.6_Silent_p.Y198Y	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	198	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCCTGGGCTACGGGGAGAGTG	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		20225	0.0		0.0	False		,,,				2504	0.001															0			6											85.0	88.0	87.0					6																	159636110		1944	4144	6088	159556098	SO:0001819	synonymous_variant	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.594C>T	6.37:g.159636110C>T			159556098	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3	p.Y198	ENST00000297267.9	37	c.594	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	C	9.928	1.214074	0.22289	.	.	ENSG00000164694	ENST00000329629	.	.	.	6.17	-4.01	0.04045	.	.	.	.	.	T	0.54382	0.1855	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64630	-0.6362	4	.	.	.	-25.5234	16.5218	0.84319	0.0:0.1832:0.0:0.8168	.	.	.	.	W	157	.	.	R	+	1	2	FNDC1	159556098	0.926000	0.31397	0.997000	0.53966	0.937000	0.57800	-0.262000	0.08682	-0.606000	0.05746	-0.749000	0.03505	CGG	-	superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3		0.512	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	protein_coding	OTTHUMT00000042897.3	C	NM_032532		159556098	+1	no_errors	NM_032532	genbank	human	validated	54_36p	silent	SNP	0.996	T
FAT1	2195	genome.wustl.edu	37	4	187510154	187510154	+	Silent	SNP	G	G	T	rs147776400	byFrequency	TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr4:187510154G>T	ENST00000441802.2	-	27	13568	c.13359C>A	c.(13357-13359)ccC>ccA	p.P4453P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4453					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						TGCTGAATTCGGGCGGTAACG	0.527										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0			4											236.0	239.0	238.0					4																	187510154		1945	4135	6080	187747148	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.13359C>A	4.37:g.187510154G>T			187747148		Silent	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_CADHERIN_1,HMMSmart_SM00181,superfamily_EGF/Laminin,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL	p.P4453	ENST00000441802.2	37	c.13359	CCDS47177.1	4																																																																																			-	NULL		0.527	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187747148	-1	no_errors	NM_005245	genbank	human	reviewed	54_36p	silent	SNP	0.183	T
ASPM	259266	genome.wustl.edu	37	1	197073225	197073225	+	Missense_Mutation	SNP	G	G	A			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:197073225G>A	ENST00000367409.4	-	18	5412	c.5156C>T	c.(5155-5157)gCa>gTa	p.A1719V	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1719					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCTCTTTTGTGCAGCTATTTT	0.378																																																0			1											110.0	111.0	111.0					1																	197073225		2203	4298	6501	195339848	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5156C>T	1.37:g.197073225G>A	ENSP00000356379:p.Ala1719Val		195339848	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00033,HMMPfam_CH,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00015,HMMPfam_IQ	p.A1719V	ENST00000367409.4	37	c.5156	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	8.748	0.920670	0.17982	.	.	ENSG00000066279	ENST00000367409	T	0.60299	0.2	5.88	0.777	0.18538	.	1.347150	0.04476	N	0.376985	T	0.44180	0.1281	L	0.41824	1.3	0.09310	N	1	B	0.28900	0.227	B	0.24006	0.05	T	0.17531	-1.0366	10	0.28530	T	0.3	.	3.2302	0.06746	0.4098:0.0:0.2864:0.3039	.	1719	Q8IZT6	ASPM_HUMAN	V	1719	ENSP00000356379:A1719V	ENSP00000356379:A1719V	A	-	2	0	ASPM	195339848	0.000000	0.05858	0.000000	0.03702	0.361000	0.29550	0.811000	0.27198	0.102000	0.17638	0.585000	0.79938	GCA	-	NULL		0.378	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	protein_coding	OTTHUMT00000088256.1	G	NM_018136		195339848	-1	no_errors	NM_018136	genbank	human	validated	54_36p	missense	SNP	0.000	A
CRB1	23418	genome.wustl.edu	37	1	197407783	197407783	+	Missense_Mutation	SNP	C	C	G			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:197407783C>G	ENST00000367400.3	+	10	3991	c.3856C>G	c.(3856-3858)Cgg>Ggg	p.R1286G	CRB1_ENST00000535699.1_Missense_Mutation_p.R1262G|CRB1_ENST00000367399.2_Missense_Mutation_p.R1174G|CRB1_ENST00000367397.1_Missense_Mutation_p.R667G|CRB1_ENST00000544212.1_Missense_Mutation_p.R767G|CRB1_ENST00000538660.1_Missense_Mutation_p.R750G|RP11-75C23.1_ENST00000422250.1_RNA	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1286	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATGTATGTGCCGGCCAGGTTT	0.428																																																0			1											93.0	95.0	94.0					1																	197407783		2203	4300	6503	195674406	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3856C>G	1.37:g.197407783C>G	ENSP00000356370:p.Arg1286Gly		195674406	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	superfamily_EGF/Laminin,HMMSmart_SM00181,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_C_TYPE_LECTIN_1	p.R1286G	ENST00000367400.3	37	c.3856	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	C	0.563	-0.844226	0.02671	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.06	5.63	-7.08	0.01558	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.78233	0.4251	L	0.56396	1.775	0.09310	N	0.999996	B;B;P;B;B	0.35272	0.0;0.001;0.493;0.0;0.006	B;B;B;B;B	0.36244	0.002;0.004;0.22;0.002;0.005	T	0.65660	-0.6114	9	0.23891	T	0.37	.	2.8243	0.05481	0.0894:0.3159:0.2044:0.3903	.	750;1262;1174;935;1286	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	G	1262;750;1286;1174;767;667;935	ENSP00000438786:R1262G;ENSP00000438091:R750G;ENSP00000356370:R1286G;ENSP00000356369:R1174G;ENSP00000444556:R767G;ENSP00000356367:R667G	ENSP00000356367:R667G	R	+	1	2	CRB1	195674406	0.027000	0.19231	0.004000	0.12327	0.001000	0.01503	0.139000	0.16036	-1.122000	0.02945	-1.813000	0.00610	CGG	-	superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2		0.428	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	protein_coding	OTTHUMT00000086565.2	C	NM_201253		195674406	+1	no_errors	NM_201253	genbank	human	reviewed	54_36p	missense	SNP	0.920	G
SGOL2	151246	genome.wustl.edu	37	2	201399859	201399859	+	Nonsense_Mutation	SNP	G	G	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr2:201399859G>T	ENST00000357799.4	+	3	372	c.274G>T	c.(274-276)Gag>Tag	p.E92*	SGOL2_ENST00000409203.3_Nonsense_Mutation_p.E92*	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	92					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ACTGAATTTTGAGAACACATT	0.308																																																0			2											79.0	73.0	75.0					2																	201399859		1812	4071	5883	201108104	SO:0001587	stop_gained	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.274G>T	2.37:g.201399859G>T	ENSP00000350447:p.Glu92*		201108104	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Nonsense_Mutation	SNP	HMMPfam_Shugoshin_N	p.E92*	ENST00000357799.4	37	c.274	CCDS42796.1	2	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947556	0.92593	.	.	ENSG00000163535	ENST00000357799;ENST00000409203	.	.	.	5.61	3.76	0.43208	.	0.120487	0.37623	N	0.002010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.1421	7.4166	0.27048	0.1001:0.2937:0.6062:0.0	.	.	.	.	X	92	.	ENSP00000350447:E92X	E	+	1	0	SGOL2	201108104	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.691000	0.37721	1.361000	0.45981	0.655000	0.94253	GAG	-	HMMPfam_Shugoshin_N		0.308	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	protein_coding	OTTHUMT00000335834.1	G	NM_152524		201108104	+1	no_errors	NM_152524	genbank	human	provisional	54_36p	nonsense	SNP	1.000	T
COL4A4	1286	genome.wustl.edu	37	2	227915769	227915769	+	Missense_Mutation	SNP	G	G	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr2:227915769G>C	ENST00000396625.3	-	33	3281	c.3074C>G	c.(3073-3075)cCt>cGt	p.P1025R	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1025R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1025	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGTCCAGGAGGCCCTGGCTG	0.582																																																0			2											97.0	99.0	98.0					2																	227915769		1887	4127	6014	227624013	SO:0001583	missense	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3074C>G	2.37:g.227915769G>C	ENSP00000379866:p.Pro1025Arg		227624013	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	HMMPfam_Collagen,HMMPfam_C4,HMMSmart_SM00111,superfamily_C-type lectin-like	p.P1025R	ENST00000396625.3	37	c.3074	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	g	7.489	0.650263	0.14516	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.95788	-3.81;-3.81	5.32	-2.55	0.06288	.	.	.	.	.	D	0.91932	0.7445	L	0.37630	1.12	0.09310	N	1	P	0.47484	0.896	P	0.52267	0.694	D	0.84554	0.0646	9	0.12103	T	0.63	.	5.2241	0.15385	0.521:0.0:0.3513:0.1277	.	1025	P53420	CO4A4_HUMAN	R	1025	ENSP00000379866:P1025R;ENSP00000328553:P1025R	ENSP00000328553:P1025R	P	-	2	0	COL4A4	227624013	0.001000	0.12720	0.004000	0.12327	0.384000	0.30261	0.120000	0.15647	-0.732000	0.04856	-0.121000	0.15023	CCT	-	HMMPfam_Collagen		0.582	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	protein_coding	OTTHUMT00000313770.1	G	NM_000092		227624013	-1	no_errors	NM_000092	genbank	human	reviewed	54_36p	missense	SNP	0.161	C
SIPA1L2	57568	genome.wustl.edu	37	1	232619639	232619639	+	Missense_Mutation	SNP	T	T	C			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr1:232619639T>C	ENST00000366630.1	-	5	2238	c.1880A>G	c.(1879-1881)aAt>aGt	p.N627S	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.N627S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	627	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CGCCGTCTCATTGTTATACAT	0.443																																																0			1											109.0	106.0	107.0					1																	232619639		1922	4159	6081	230686262	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1880A>G	1.37:g.232619639T>C	ENSP00000355589:p.Asn627Ser		230686262	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228	p.N627S	ENST00000366630.1	37	c.1880	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.701787	0.88924	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.98105	-4.72;-4.72	5.65	5.65	0.86999	Rap/ran-GAP (2);	0.094171	0.64402	D	0.000001	D	0.99061	0.9678	H	0.94734	3.575	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.99482	1.0948	10	0.87932	D	0	-43.6967	16.0399	0.80667	0.0:0.0:0.0:1.0	.	627	Q9P2F8	SI1L2_HUMAN	S	627	ENSP00000355589:N627S;ENSP00000262861:N627S	ENSP00000262861:N627S	N	-	2	0	SIPA1L2	230686262	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.525000	0.81892	2.371000	0.80710	0.533000	0.62120	AAT	-	superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP		0.443	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	protein_coding	OTTHUMT00000092318.1	T	XM_045839		230686262	-1	no_errors	NM_020808	genbank	human	validated	54_36p	missense	SNP	1.000	C
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	INS	-	-	T			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	-	-					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrUnknown:0_0insT								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								14605	SO:0001628	intergenic_variant	4541																															Unknown.37:g.0_0insT			14604		Frame_Shift_Ins	INS	HMMPfam_Oxidored_q3	p.S24fs		37	c.71_70		MT																																																																																			-	HMMPfam_Oxidored_q3	0	0					MT-ND6			-			14605	-1	no_stop_codon	ENST00000361681	ensembl	human	known	54_36p	frame_shift_ins	INS	NULL	T
RLN3	117579	genome.wustl.edu	37	19	14141732	14141755	+	In_Frame_Del	DEL	GCAAAAGTGAAATCAGTAGCCTTT	GCAAAAGTGAAATCAGTAGCCTTT	-			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	GCAAAAGTGAAATCAGTAGCCTTT	GCAAAAGTGAAATCAGTAGCCTTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr19:14141732_14141755delGCAAAAGTGAAATCAGTAGCCTTT	ENST00000431365.2	+	2	458_481	c.401_424delGCAAAAGTGAAATCAGTAGCCTTT	c.(400-426)agcaaaagtgaaatcagtagcctttgc>agc	p.KSEISSLC135del	RLN3_ENST00000585987.1_3'UTR|CTB-55O6.4_ENST00000590528.1_RNA|IL27RA_ENST00000263379.2_5'Flank	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	135						extracellular region (GO:0005576)				endometrium(1)|lung(4)	5						TGGGGGTGTAGCAAAAGTGAAATCAGTAGCCTTTGCTAGTTTGA	0.607																																																0			19																																								14002755	SO:0001651	inframe_deletion	117579			AF447451	CCDS12302.1	19p13.2	2013-02-26	2004-11-15					"""Endogenous ligands"""	17135	protein-coding gene	gene with protein product	"""prorelaxin H3"""	606855	"""relaxin 3 (H3)"""				Standard	NM_080864		Approved	ZINS4, RXN3, H3	uc002mxw.1	Q8WXF3		ENST00000431365.2:c.401_424delGCAAAAGTGAAATCAGTAGCCTTT	19.37:g.14141732_14141755delGCAAAAGTGAAATCAGTAGCCTTT	ENSP00000397415:p.Lys135_Cys142del		14002732	Q6UXW5	In_Frame_Del	DEL	superfamily_Insulin-like,HMMSmart_IlGF,PatternScan_INSULIN	p.KSEISSLC135in_frame_del	ENST00000431365.2	37	c.401_424	CCDS12302.1	19																																																																																			(deletion:cds_exon[14002522,14002760])	superfamily_Insulin-like,HMMSmart_IlGF,PatternScan_INSULIN		0.607	RLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN3	protein_coding	OTTHUMT00000458529.1	GCAAAAGTGAAATCAGTAGCCTTT			14002755	+1	no_errors	NM_080864	genbank	human	validated	54_36p	in_frame_del	DEL	1.000:1.000:1.000:0.996:0.893:0.873:0.696:0.683:0.860:0.897:0.884:0.963:0.996:0.997:1.000:1.000:1.000:0.998:0.997:0.997:1.000:0.999:0.985:1.000	-
GUF1	60558	genome.wustl.edu	37	4	44682807	44682817	+	Frame_Shift_Del	DEL	TCTTTTACAAT	TCTTTTACAAT	-	rs187478991		TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	TCTTTTACAAT	TCTTTTACAAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr4:44682807_44682817delTCTTTTACAAT	ENST00000281543.5	+	3	568_578	c.374_384delTCTTTTACAAT	c.(373-384)ctcttttacaatfs	p.LFYN125fs	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ACAGCATCTCTCTTTTACAATTGTGAAGGAA	0.332																																																0			4																																								44377574	SO:0001589	frameshift_variant	60558				CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.374_384delTCTTTTACAAT	4.37:g.44682807_44682817delTCTTTTACAAT	ENSP00000281543:p.Leu125fs		44377564		Frame_Shift_Del	DEL	superfamily_SSF52540,HMMPfam_GTP_EFTU,PatternScan_EFACTOR_GTP,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,superfamily_EFG_III_V,HMMPfam_EFG_C,HMMPfam_LepA_C	p.F126fs	ENST00000281543.5	37	c.374_384	CCDS3468.1	4																																																																																			(deletion:cds_exon[44377468,44377616])	superfamily_SSF52540,HMMPfam_GTP_EFTU		0.332	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUF1	protein_coding	OTTHUMT00000250469.3	TCTTTTACAAT	NM_021927		44377574	+1	no_errors	NM_021927	genbank	human	validated	54_36p	frame_shift_del	DEL	1.000:0.992:0.999:1.000:1.000:1.000:0.994:0.292:0.264:0.244:0.229	-
DHX30	22907	genome.wustl.edu	37	3	47889876	47889876	+	Splice_Site	DEL	G	G	-			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chr3:47889876delG	ENST00000445061.1	+	15	2900	c.2493delG	c.(2491-2493)acg>ac	p.T831fs	DHX30_ENST00000348968.4_Splice_Site_p.T803fs|DHX30_ENST00000446256.2_Splice_Site_p.T792fs|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Splice_Site_p.T859fs	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	831						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTGAGAAGACGGTGCGGCGGG	0.642																																																0			3											44.0	55.0	51.0					3																	47889876		2202	4299	6501	47864880	SO:0001630	splice_region_variant	22907			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2493+1G>-	3.37:g.47889876delG			47864880	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Frame_Shift_Del	DEL	superfamily_dsRNA-binding domain-like,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605	p.A832fs	ENST00000445061.1	37	c.2493	CCDS2759.1	3																																																																																			(deletion:cds_exon[47864674,47864880])	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.642	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHX30	protein_coding	OTTHUMT00000257495.2	G	NM_138615	Frame_Shift_Del	47864880	+1	no_errors	NM_138615	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-
TRMT2B	79979	genome.wustl.edu	37	X	100277031	100277033	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	CTT	CTT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrX:100277031_100277033delCTT	ENST00000372936.3	-	9	1547_1549	c.775_777delAAG	c.(775-777)aagdel	p.K259del	TRMT2B_ENST00000372931.5_In_Frame_Del_p.K259del|TRMT2B_ENST00000545398.1_In_Frame_Del_p.K259del|TRMT2B_ENST00000372935.1_In_Frame_Del_p.K259del|TRMT2B_ENST00000372939.1_In_Frame_Del_p.K214del|TRMT2B_ENST00000338687.7_In_Frame_Del_p.K214del|TRMT2B_ENST00000478422.1_5'Flank	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	259						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TTACAATCTCCTTCTGAACATGG	0.443																																																0			X																																								100163689	SO:0001651	inframe_deletion	79979			BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.775_777delAAG	X.37:g.100277031_100277033delCTT	ENSP00000362027:p.Lys259del		100163687	A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	In_Frame_Del	DEL	superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_MTS	p.K259in_frame_del	ENST00000372936.3	37	c.777_775	CCDS14477.1	X																																																																																			(deletion:cds_exon[100163613,100163707])	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.443	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TRMT2B	protein_coding	OTTHUMT00000057512.1	CTT	NM_024917		100163689	-1	no_errors	NM_024917	genbank	human	provisional	54_36p	in_frame_del	DEL	0.914:0.987:0.998	-
IRS4	8471	genome.wustl.edu	37	X	107975867	107975869	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-20-1686-01A-01W-0633-09	TCGA-20-1686-10A-01W-0633-09	GTC	GTC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	7abd0180-998c-4c7d-9e87-9684a356b7ed	92b787c4-41b2-47f2-8d17-f9ee064e3ad4	g.chrX:107975867_107975869delGTC	ENST00000372129.2	-	1	3782_3784	c.3706_3708delGAC	c.(3706-3708)gacdel	p.D1236del	RP6-24A23.6_ENST00000563887.1_In_Frame_Del_p.D17del	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1236					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCACGTGAGTGTCGTCGTCGTTG	0.542																																																0			X																																								107862525	SO:0001651	inframe_deletion	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3706_3708delGAC	X.37:g.107975873_107975875delGTC	ENSP00000361202:p.Asp1236del		107862523		In_Frame_Del	DEL	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI	p.D1236in_frame_del	ENST00000372129.2	37	c.3708_3706	CCDS14544.1	X																																																																																			(deletion:cds_exon[107862457,107866230])	NULL		0.542	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	protein_coding	OTTHUMT00000057879.1	GTC	NM_003604		107862525	-1	no_errors	NM_003604	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.002:0.003:0.006	-
