#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
C11orf84	144097	genome.wustl.edu	37	11	63585595	63585595	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23E-01A-11D-A159-09	TCGA-AC-A23E-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	137cb73f-394a-459a-83e6-0b3c85c955cd	a0fb9995-ee0b-4181-87e9-414ead80647d	g.chr11:63585595C>T	ENST00000294244.4	+	2	745	c.446C>T	c.(445-447)cCa>cTa	p.P149L		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	149	Pro-rich.									endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CAGCCGTCCCCACCCAACTCA	0.597																																						dbGAP											0													59.0	63.0	62.0					11																	63585595		2201	4298	6499	-	-	-	SO:0001583	missense	0			BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.446C>T	11.37:g.63585595C>T	ENSP00000294244:p.Pro149Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	NULL	p.P149L	ENST00000294244.4	37	c.446	CCDS31594.1	11	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578377	0.28180	.	.	ENSG00000168005	ENST00000294244	T	0.48522	0.81	5.38	3.08	0.35506	.	1.182170	0.06023	N	0.651628	T	0.34716	0.0907	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31861	-0.9928	10	0.87932	D	0	0.084	6.779	0.23636	0.0:0.7334:0.0:0.2666	.	149	Q9BUA3	CK084_HUMAN	L	149	ENSP00000294244:P149L	ENSP00000294244:P149L	P	+	2	0	C11orf84	63342171	0.008000	0.16893	0.000000	0.03702	0.152000	0.21847	2.356000	0.44116	0.404000	0.25506	0.561000	0.74099	CCA	C11orf84	-	NULL	ENSG00000168005		0.597	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf84	HGNC	protein_coding	OTTHUMT00000396084.1	40	0.00	0	C	NM_138471		63585595	63585595	+1	no_errors	ENST00000294244	ensembl	human	known	69_37n	missense	37	19.57	9	SNP	0.001	T
HEATR9	256957	genome.wustl.edu	37	17	34182281	34182281	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A23E-01A-11D-A159-09	TCGA-AC-A23E-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	137cb73f-394a-459a-83e6-0b3c85c955cd	a0fb9995-ee0b-4181-87e9-414ead80647d	g.chr17:34182281G>A	ENST00000311880.2	-	15	1647	c.1499C>T	c.(1498-1500)cCt>cTt	p.P500L	C17orf66_ENST00000592980.1_Missense_Mutation_p.P460L	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		500					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TGGGTTCTCAGGCTCTTTCTG	0.443																																						dbGAP											0													130.0	129.0	129.0					17																	34182281		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000311880.2:c.1499C>T	17.37:g.34182281G>A	ENSP00000309560:p.Pro500Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P500L	ENST00000311880.2	37	c.1499	CCDS11299.1	17	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270453	0.59540	.	.	ENSG00000172653	ENST00000311880	T	0.50001	0.76	3.56	2.57	0.30868	.	0.534254	0.15820	N	0.243044	T	0.44307	0.1287	L	0.32530	0.975	0.09310	N	0.999996	D;P	0.57571	0.98;0.952	P;P	0.51806	0.68;0.5	T	0.23868	-1.0176	10	0.72032	D	0.01	.	8.2999	0.32008	0.0:0.0:0.7641:0.2359	.	460;500	A2RTY3-3;A2RTY3	.;CQ066_HUMAN	L	500	ENSP00000309560:P500L	ENSP00000309560:P500L	P	-	2	0	C17orf66	31206394	0.093000	0.21703	0.206000	0.23566	0.626000	0.37791	2.547000	0.45786	1.041000	0.40125	0.591000	0.81541	CCT	C17orf66	-	NULL	ENSG00000172653		0.443	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf66	HGNC	protein_coding	OTTHUMT00000256487.1	94	0.00	0	G			34182281	34182281	-1	no_errors	ENST00000311880	ensembl	human	known	69_37n	missense	58	15.94	11	SNP	0.045	A
CEP85	64793	genome.wustl.edu	37	1	26581958	26581958	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23E-01A-11D-A159-09	TCGA-AC-A23E-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	137cb73f-394a-459a-83e6-0b3c85c955cd	a0fb9995-ee0b-4181-87e9-414ead80647d	g.chr1:26581958G>C	ENST00000252992.4	+	4	636	c.505G>C	c.(505-507)Ggc>Cgc	p.G169R	CEP85_ENST00000451429.2_Missense_Mutation_p.G118R	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	169						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						TCCAGCAGTGGGCCATGAAAG	0.453																																						dbGAP											0													83.0	83.0	83.0					1																	26581958		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.505G>C	1.37:g.26581958G>C	ENSP00000252992:p.Gly169Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	NULL	p.G169R	ENST00000252992.4	37	c.505	CCDS277.1	1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702438	0.68501	.	.	ENSG00000130695	ENST00000451429;ENST00000252992	T;T	0.13901	2.55;2.77	5.43	5.43	0.79202	.	0.455677	0.24544	N	0.037606	T	0.28234	0.0697	L	0.44542	1.39	0.48975	D	0.999733	D;D;D	0.63880	0.967;0.993;0.988	P;P;P	0.60682	0.693;0.878;0.759	T	0.00154	-1.1981	10	0.59425	D	0.04	-11.6942	17.1843	0.86862	0.0:0.0:1.0:0.0	.	118;169;169	F8W7K4;Q6P2H3;Q6P2H3-2	.;CEP85_HUMAN;.	R	118;169	ENSP00000417002:G118R;ENSP00000252992:G169R	ENSP00000252992:G169R	G	+	1	0	CEP85	26454545	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.120000	0.89581	2.824000	0.97209	0.655000	0.94253	GGC	CEP85	-	NULL	ENSG00000130695		0.453	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CEP85	HGNC	protein_coding	OTTHUMT00000009492.2	56	0.00	0	G	NM_022778		26581958	26581958	+1	no_errors	ENST00000252992	ensembl	human	known	69_37n	missense	52	21.21	14	SNP	1.000	C
CLCN4	1183	genome.wustl.edu	37	X	10180564	10180564	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A23E-01A-11D-A159-09	TCGA-AC-A23E-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	137cb73f-394a-459a-83e6-0b3c85c955cd	a0fb9995-ee0b-4181-87e9-414ead80647d	g.chrX:10180564G>T	ENST00000380833.4	+	10	1838	c.1447G>T	c.(1447-1449)Gtg>Ttg	p.V483L	CLCN4_ENST00000421085.2_Missense_Mutation_p.V389L|CLCN4_ENST00000380829.1_Missense_Mutation_p.V452L	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	483					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGGCAGGATGGTGGGAATTGG	0.577																																					Melanoma(74;1050 1296 1576 30544 38374)	dbGAP											0													97.0	79.0	85.0					X																	10180564		2203	4300	6503	-	-	-	SO:0001583	missense	0			X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1447G>T	X.37:g.10180564G>T	ENSP00000370213:p.Val483Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-4	p.V483L	ENST00000380833.4	37	c.1447	CCDS14137.1	X	.	.	.	.	.	.	.	.	.	.	G	10.85	1.468364	0.26335	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.94232	-3.38;-3.38;-3.38	5.59	4.72	0.59763	Chloride channel, core (2);	0.053251	0.85682	N	0.000000	D	0.86201	0.5876	N	0.20574	0.59	0.80722	D	1	B	0.10296	0.003	B	0.15484	0.013	T	0.79403	-0.1818	10	0.06757	T	0.87	-39.6014	15.0496	0.71858	0.0:0.0:0.8568:0.1431	.	483	P51793	CLCN4_HUMAN	L	483;452;389	ENSP00000370213:V483L;ENSP00000370209:V452L;ENSP00000405754:V389L	ENSP00000370209:V452L	V	+	1	0	CLCN4	10140564	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.682000	0.84083	1.122000	0.41944	0.600000	0.82982	GTG	CLCN4	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated	ENSG00000073464		0.577	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN4	HGNC	protein_coding	OTTHUMT00000055730.1	31	0.00	0	G			10180564	10180564	+1	no_errors	ENST00000380833	ensembl	human	known	69_37n	missense	30	14.29	5	SNP	1.000	T
COMMD9	29099	genome.wustl.edu	37	11	36297762	36297762	+	Silent	SNP	G	G	A			TCGA-AC-A23E-01A-11D-A159-09	TCGA-AC-A23E-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	137cb73f-394a-459a-83e6-0b3c85c955cd	a0fb9995-ee0b-4181-87e9-414ead80647d	g.chr11:36297762G>A	ENST00000263401.5	-	5	397	c.381C>T	c.(379-381)gaC>gaT	p.D127D	LINC00610_ENST00000355500.1_lincRNA|COMMD9_ENST00000452374.2_Silent_p.D85D|COMMD9_ENST00000532705.1_Silent_p.L116L|COMMD9_ENST00000533308.1_5'Flank	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	127	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.									kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				CCACTCTCCAGTCCAGATCGA	0.537																																						dbGAP											0													111.0	90.0	97.0					11																	36297762		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.381C>T	11.37:g.36297762G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PAN2|Q96FI2|Q9H0R0	Silent	SNP	pfam_HCaRG	p.D127	ENST00000263401.5	37	c.381	CCDS7900.1	11																																																																																			COMMD9	-	pfam_HCaRG	ENSG00000110442		0.537	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD9	HGNC	protein_coding	OTTHUMT00000389196.1	36	0.00	0	G	NM_014186		36297762	36297762	-1	no_errors	ENST00000263401	ensembl	human	known	69_37n	silent	34	19.05	8	SNP	1.000	A
EME1	146956	genome.wustl.edu	37	17	48453257	48453257	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23E-01A-11D-A159-09	TCGA-AC-A23E-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	137cb73f-394a-459a-83e6-0b3c85c955cd	a0fb9995-ee0b-4181-87e9-414ead80647d	g.chr17:48453257G>C	ENST00000338165.4	+	2	770	c.688G>C	c.(688-690)Gaa>Caa	p.E230Q	MRPL27_ENST00000225969.4_5'Flank|MRPL27_ENST00000503633.1_5'Flank|EME1_ENST00000511648.2_Missense_Mutation_p.E230Q|MRPL27_ENST00000442592.3_5'Flank|MRPL27_ENST00000507088.1_5'Flank|EME1_ENST00000393271.2_Missense_Mutation_p.E230Q	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	230					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			GAGAAGACAGGAAAGAAAGAA	0.517								Direct reversal of damage;Homologous recombination																														dbGAP											0													101.0	102.0	101.0					17																	48453257		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"""	610885	"""essential meiotic endonuclease 1 homolog 1 (S. pombe)"""			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.688G>C	17.37:g.48453257G>C	ENSP00000339897:p.Glu230Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96N62	Missense_Mutation	SNP	pfam_ERCC4_domain,smart_ERCC4_domain	p.E230Q	ENST00000338165.4	37	c.688	CCDS11565.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.530|6.530	0.466084|0.466084	0.12402|0.12402	.|.	.|.	ENSG00000154920|ENSG00000154920	ENST00000338165;ENST00000393271;ENST00000511648|ENST00000510246	T;T;T|.	0.12774|.	2.72;2.65;2.65|.	5.25|5.25	2.1|2.1	0.27182|0.27182	.|.	0.073728|.	0.50627|.	D|.	0.000113|.	T|T	0.38321|0.38321	0.1036|0.1036	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	0.999999|0.999999	P;B|.	0.40211|.	0.707;0.18|.	B;B|.	0.36244|.	0.22;0.044|.	T|T	0.24333|0.24333	-1.0163|-1.0163	10|5	0.52906|.	T|.	0.07|.	-25.5073|-25.5073	7.3912|7.3912	0.26911|0.26911	0.1496:0.137:0.7134:0.0|0.1496:0.137:0.7134:0.0	.|.	230;230|.	Q96AY2-2;Q96AY2|.	.;EME1_HUMAN|.	Q|A	230|70	ENSP00000339897:E230Q;ENSP00000376952:E230Q;ENSP00000421700:E230Q|.	ENSP00000339897:E230Q|.	E|G	+|+	1|2	0|0	EME1|EME1	45808256|45808256	0.993000|0.993000	0.37304|0.37304	0.000000|0.000000	0.03702|0.03702	0.058000|0.058000	0.15608|0.15608	3.693000|3.693000	0.54735|0.54735	0.199000|0.199000	0.20427|0.20427	-0.145000|-0.145000	0.13849|0.13849	GAA|GGA	EME1	-	NULL	ENSG00000154920		0.517	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EME1	HGNC	protein_coding	OTTHUMT00000367118.3	37	0.00	0	G	NM_152463		48453257	48453257	+1	no_errors	ENST00000393271	ensembl	human	known	69_37n	missense	24	19.35	6	SNP	0.001	C
FTHL17	53940	genome.wustl.edu	37	X	31089761	31089761	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A23E-01A-11D-A159-09	TCGA-AC-A23E-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	137cb73f-394a-459a-83e6-0b3c85c955cd	a0fb9995-ee0b-4181-87e9-414ead80647d	g.chrX:31089761C>A	ENST00000359202.3	-	1	409	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	104	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						AGGTGGAAGGCGGACTCCATG	0.627																																						dbGAP											0													74.0	61.0	65.0					X																	31089761		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.310G>T	X.37:g.31089761C>A	ENSP00000368207:p.Ala104Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NT24|Q6NTE2	Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RR-like,pfscan_Ferritin-like_diiron	p.A104S	ENST00000359202.3	37	c.310	CCDS14227.1	X	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389342	0.61956	.	.	ENSG00000132446	ENST00000359202	T	0.69040	-0.37	3.62	1.72	0.24424	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.060607	0.64402	D	0.000004	T	0.75459	0.3852	M	0.77103	2.36	0.44871	D	0.997889	P	0.50528	0.936	D	0.64237	0.923	T	0.72456	-0.4288	10	0.66056	D	0.02	.	5.0181	0.14347	0.2058:0.6663:0.0:0.128	.	104	Q9BXU8	FHL17_HUMAN	S	104	ENSP00000368207:A104S	ENSP00000368207:A104S	A	-	1	0	FTHL17	30999682	0.761000	0.28439	0.005000	0.12908	0.070000	0.16714	1.418000	0.34782	0.308000	0.22923	0.544000	0.68410	GCC	FTHL17	-	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RR-like,pfscan_Ferritin-like_diiron	ENSG00000132446		0.627	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTHL17	HGNC	protein_coding	OTTHUMT00000056178.1	25	0.00	0	C	NM_031894		31089761	31089761	-1	no_errors	ENST00000359202	ensembl	human	known	69_37n	missense	29	43.14	22	SNP	0.968	A
MAP2K4	6416	genome.wustl.edu	37	17	11984671	11984672	+	Splice_Site	DEL	AG	AG	-			TCGA-AC-A23E-01A-11D-A159-09	TCGA-AC-A23E-10A-01D-A159-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	137cb73f-394a-459a-83e6-0b3c85c955cd	a0fb9995-ee0b-4181-87e9-414ead80647d	g.chr17:11984671_11984672delAG	ENST00000353533.5	+	3	281		c.e3-1		MIR744_ENST00000578242.1_RNA|MAP2K4_ENST00000415385.3_Splice_Site|MAP2K4_ENST00000581941.1_Splice_Site	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(3)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATATTTTAACAGAGAGAGACTG	0.351			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	13	Whole gene deletion(10)|Unknown(3)	breast(7)|ovary(4)|biliary_tract(1)|pancreas(1)																																								-	-	-	SO:0001630	splice_region_variant	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.219-1AG>-	17.37:g.11984677_11984678delAG		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Splice_Site	DEL	-	e4-1	ENST00000353533.5	37	c.252-2_252-1	CCDS11162.1	17																																																																																			MAP2K4	-	-	ENSG00000065559		0.351	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	32	0.00	0	AG		Intron	11984671	11984672	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	splice_site_del	15	44.44	12	DEL	1.000:1.000	-
NCOR1	9611	genome.wustl.edu	37	17	16012112	16012112	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A23E-01A-11D-A159-09	TCGA-AC-A23E-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	137cb73f-394a-459a-83e6-0b3c85c955cd	a0fb9995-ee0b-4181-87e9-414ead80647d	g.chr17:16012112C>A	ENST00000268712.3	-	19	2427	c.2170G>T	c.(2170-2172)Gaa>Taa	p.E724*	NCOR1_ENST00000395848.1_Nonsense_Mutation_p.E615*|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.E724*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	724					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCGCTGTCTTCTGGATTTTCT	0.378																																						dbGAP											0													118.0	112.0	114.0					17																	16012112		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2170G>T	17.37:g.16012112C>A	ENSP00000268712:p.Glu724*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E724*	ENST00000268712.3	37	c.2170	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	C	38	7.155157	0.98099	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	.	.	.	5.31	5.31	0.75309	.	0.269434	0.40818	N	0.001012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-11.7395	17.9624	0.89090	0.0:1.0:0.0:0.0	.	.	.	.	X	724;724;615;615	.	ENSP00000268712:E724X	E	-	1	0	NCOR1	15952837	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.483000	0.73617	2.489000	0.83994	0.591000	0.81541	GAA	NCOR1	-	NULL	ENSG00000141027		0.378	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	116	0.00	0	C	NM_006311		16012112	16012112	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	nonsense	31	55.07	38	SNP	1.000	A
MRPL38	64978	genome.wustl.edu	37	17	73897305	73897305	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A23E-01A-11D-A159-09	TCGA-AC-A23E-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	137cb73f-394a-459a-83e6-0b3c85c955cd	a0fb9995-ee0b-4181-87e9-414ead80647d	g.chr17:73897305C>T	ENST00000309352.3	-	5	1178	c.641G>A	c.(640-642)tGg>tAg	p.W214*	MRPL38_ENST00000409963.3_Nonsense_Mutation_p.W30*|MRPL38_ENST00000585475.1_5'Flank|RP11-552F3.10_ENST00000587267.1_RNA	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	214						mitochondrion (GO:0005739)|ribosome (GO:0005840)				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAGCAACGTCCACAAGGAGCC	0.662																																						dbGAP											0													97.0	68.0	78.0					17																	73897305		2202	4299	6501	-	-	-	SO:0001587	stop_gained	0			AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"""Mitochondrial ribosomal proteins / large subunits"""	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.641G>A	17.37:g.73897305C>T	ENSP00000308275:p.Trp214*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN96|Q96Q66|Q9P0B9	Nonsense_Mutation	SNP	pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP	p.W214*	ENST00000309352.3	37	c.641	CCDS11733.2	17	.	.	.	.	.	.	.	.	.	.	C	45	11.285408	0.99542	.	.	ENSG00000204316	ENST00000309352;ENST00000409963	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7323	19.3319	0.94293	0.0:1.0:0.0:0.0	.	.	.	.	X	214;30	.	ENSP00000308275:W214X	W	-	2	0	MRPL38	71408900	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	5.452000	0.66638	2.821000	0.97095	0.555000	0.69702	TGG	MRPL38	-	pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP	ENSG00000204316		0.662	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL38	HGNC	protein_coding	OTTHUMT00000328829.1	27	0.00	0	C	NM_032478		73897305	73897305	-1	no_errors	ENST00000309352	ensembl	human	known	69_37n	nonsense	28	20.00	7	SNP	1.000	T
OR6C65	403282	genome.wustl.edu	37	12	55794527	55794527	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A23E-01A-11D-A159-09	TCGA-AC-A23E-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	137cb73f-394a-459a-83e6-0b3c85c955cd	a0fb9995-ee0b-4181-87e9-414ead80647d	g.chr12:55794527C>T	ENST00000379665.2	+	1	314	c.215C>T	c.(214-216)aCg>aTg	p.T72M		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ATTTCATTTACGACAGTCTTC	0.318																																						dbGAP											0													64.0	66.0	65.0					12																	55794527		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.215C>T	12.37:g.55794527C>T	ENSP00000368986:p.Thr72Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNH9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T72M	ENST00000379665.2	37	c.215	CCDS31821.1	12	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069031	0.36470	.	.	ENSG00000205328	ENST00000379665	T	0.00581	6.42	3.6	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.301067	0.17527	N	0.171023	T	0.02888	0.0086	M	0.93550	3.43	0.09310	N	1	D	0.89917	1.0	D	0.69824	0.966	T	0.30119	-0.9989	10	0.87932	D	0	.	4.4102	0.11429	0.172:0.5799:0.0:0.248	.	72	A6NJZ3	O6C65_HUMAN	M	72	ENSP00000368986:T72M	ENSP00000368986:T72M	T	+	2	0	OR6C65	54080794	0.000000	0.05858	0.198000	0.23420	0.970000	0.65996	0.096000	0.15147	0.278000	0.22164	0.424000	0.28305	ACG	OR6C65	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000205328		0.318	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C65	HGNC	protein_coding	OTTHUMT00000406674.1	67	0.00	0	C			55794527	55794527	+1	no_errors	ENST00000379665	ensembl	human	known	69_37n	missense	49	18.33	11	SNP	0.013	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-AC-A23E-01A-11D-A159-09	TCGA-AC-A23E-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	137cb73f-394a-459a-83e6-0b3c85c955cd	a0fb9995-ee0b-4181-87e9-414ead80647d	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	60	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	30	38.78	19	SNP	1.000	G
RNF183	138065	genome.wustl.edu	37	9	116060076	116060076	+	Missense_Mutation	SNP	G	G	A	rs528802850		TCGA-AC-A23E-01A-11D-A159-09	TCGA-AC-A23E-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	137cb73f-394a-459a-83e6-0b3c85c955cd	a0fb9995-ee0b-4181-87e9-414ead80647d	g.chr9:116060076G>A	ENST00000478815.1	-	1	1969	c.389C>T	c.(388-390)cCg>cTg	p.P130L	RNF183_ENST00000478493.1_5'Flank|RNF183_ENST00000416588.2_Missense_Mutation_p.P130L|RNF183_ENST00000297894.5_Missense_Mutation_p.P130L|RNF183_ENST00000441031.3_Missense_Mutation_p.P130L			Q96D59	RN183_HUMAN	ring finger protein 183	130						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			lung(1)|prostate(1)|skin(1)	3						GTCTGGGGGCGGCCCAGTCTG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		16082	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													37.0	43.0	41.0					9																	116060076		1909	4121	6030	-	-	-	SO:0001583	missense	0				CCDS43866.1	9q32	2007-04-24			ENSG00000165188	ENSG00000165188		"""RING-type (C3HC4) zinc fingers"""	28721	protein-coding gene	gene with protein product						12477932	Standard	NM_145051		Approved	MGC4734	uc004bgz.3	Q96D59	OTTHUMG00000020520	ENST00000478815.1:c.389C>T	9.37:g.116060076G>A	ENSP00000419454:p.Pro130Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.P130L	ENST00000478815.1	37	c.389	CCDS43866.1	9	.	.	.	.	.	.	.	.	.	.	G	4.827	0.153766	0.09185	.	.	ENSG00000165188	ENST00000441031;ENST00000416588;ENST00000478815;ENST00000297894	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.86	-0.397	0.12423	.	1.777720	0.02324	N	0.073227	T	0.10078	0.0247	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21655	-1.0239	10	0.20046	T	0.44	-21.1376	3.7765	0.08661	0.2562:0.0:0.4561:0.2877	.	130	Q96D59	RN183_HUMAN	L	130	ENSP00000417176:P130L;ENSP00000420740:P130L;ENSP00000419454:P130L;ENSP00000417943:P130L	ENSP00000417943:P130L	P	-	2	0	RNF183	115099897	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.489000	0.06490	-0.254000	0.09500	0.563000	0.77884	CCG	RNF183	-	NULL	ENSG00000165188		0.642	RNF183-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF183	HGNC	protein_coding	OTTHUMT00000356360.1	24	0.00	0	G	NM_145051		116060076	116060076	-1	no_errors	ENST00000297894	ensembl	human	known	69_37n	missense	28	17.65	6	SNP	0.002	A
SFMBT2	57713	genome.wustl.edu	37	10	7409820	7409820	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A23E-01A-11D-A159-09	TCGA-AC-A23E-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	137cb73f-394a-459a-83e6-0b3c85c955cd	a0fb9995-ee0b-4181-87e9-414ead80647d	g.chr10:7409820G>C	ENST00000361972.4	-	4	317	c.227C>G	c.(226-228)cCa>cGa	p.P76R	SFMBT2_ENST00000397160.3_Missense_Mutation_p.P76R|SFMBT2_ENST00000397167.1_Missense_Mutation_p.P76R|SFMBT2_ENST00000379713.3_Missense_Mutation_p.P76R|SFMBT2_ENST00000379711.2_Missense_Mutation_p.P76R	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	76					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTTCATTCCTGGCTGGAAGTT	0.458																																						dbGAP											0													67.0	66.0	66.0					10																	7409820		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.227C>G	10.37:g.7409820G>C	ENSP00000355109:p.Pro76Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD09|Q9HCF5	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.P76R	ENST00000361972.4	37	c.227	CCDS31138.1	10	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383858	0.42308	.	.	ENSG00000198879	ENST00000361972;ENST00000397167;ENST00000379713;ENST00000379711;ENST00000397160	T;T;T;T;T	0.43688	0.94;0.94;0.94;1.48;1.48	5.17	5.17	0.71159	.	0.107097	0.64402	D	0.000005	T	0.64494	0.2603	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.91635	0.677;0.999	T	0.64846	-0.6311	10	0.51188	T	0.08	.	18.6336	0.91369	0.0:0.0:1.0:0.0	.	76;76	Q5T981;Q5VUG0	.;SMBT2_HUMAN	R	76	ENSP00000355109:P76R;ENSP00000380353:P76R;ENSP00000369035:P76R;ENSP00000369033:P76R;ENSP00000380346:P76R	ENSP00000355109:P76R	P	-	2	0	SFMBT2	7449826	1.000000	0.71417	0.999000	0.59377	0.799000	0.45148	9.731000	0.98807	2.567000	0.86603	0.484000	0.47621	CCA	SFMBT2	-	smart_Mbt,pfscan_Mbt	ENSG00000198879		0.458	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	HGNC	protein_coding	OTTHUMT00000046673.1	42	0.00	0	G	NM_001029880		7409820	7409820	-1	no_errors	ENST00000361972	ensembl	human	known	69_37n	missense	48	18.64	11	SNP	1.000	C
SLC25A47	283600	genome.wustl.edu	37	14	100793566	100793566	+	Silent	SNP	G	G	A			TCGA-AC-A23E-01A-11D-A159-09	TCGA-AC-A23E-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	137cb73f-394a-459a-83e6-0b3c85c955cd	a0fb9995-ee0b-4181-87e9-414ead80647d	g.chr14:100793566G>A	ENST00000361529.3	+	4	264	c.186G>A	c.(184-186)acG>acA	p.T62T	SLC25A47_ENST00000557052.1_De_novo_Start_InFrame	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	62					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						CCGTGTGCACGGTGTCCCTGG	0.672																																					GBM(11;1289 1351)	dbGAP											0													131.0	130.0	130.0					14																	100793566		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.186G>A	14.37:g.100793566G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP39|Q68CL2|Q6PZD8|Q86U14	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.T62	ENST00000361529.3	37	c.186	CCDS9959.1	14																																																																																			SLC25A47	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000140107		0.672	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A47	HGNC	protein_coding	OTTHUMT00000414231.1	43	0.00	0	G			100793566	100793566	+1	no_errors	ENST00000361529	ensembl	human	known	69_37n	silent	39	41.79	28	SNP	0.000	A
SMAD5	4090	genome.wustl.edu	37	5	135489806	135489807	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AC-A23E-01A-11D-A159-09	TCGA-AC-A23E-10A-01D-A159-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	137cb73f-394a-459a-83e6-0b3c85c955cd	a0fb9995-ee0b-4181-87e9-414ead80647d	g.chr5:135489806_135489807delAG	ENST00000545279.1	+	3	717_718	c.357_358delAG	c.(355-360)aaagaafs	p.E120fs	SMAD5_ENST00000545620.1_Frame_Shift_Del_p.E120fs|SMAD5_ENST00000514641.2_3'UTR	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	120	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTAAGCAAAAAGAAGTTTGTAT	0.386																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000545279.1:c.357_358delAG	5.37:g.135489806_135489807delAG	ENSP00000441954:p.Glu120fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O14688|Q15798|Q9UQA1	Frame_Shift_Del	DEL	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.E120fs	ENST00000545279.1	37	c.357_358		5																																																																																			SMAD5	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1	ENSG00000113658		0.386	SMAD5-201	KNOWN	basic|appris_principal	protein_coding	SMAD5	HGNC	protein_coding		69	0.00	0	AG	NM_005903		135489806	135489807	+1	no_errors	ENST00000545279	ensembl	human	known	69_37n	frame_shift_del	72	12.20	10	DEL	1.000:1.000	-
SULT1A4	445329	genome.wustl.edu	37	16	29472811	29472811	+	Silent	SNP	A	A	G	rs150339073		TCGA-AC-A23E-01A-11D-A159-09	TCGA-AC-A23E-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	137cb73f-394a-459a-83e6-0b3c85c955cd	a0fb9995-ee0b-4181-87e9-414ead80647d	g.chr16:29472811A>G	ENST00000360423.7	+	2	206	c.105A>G	c.(103-105)caA>caG	p.Q35Q	SULT1A4_ENST00000565290.1_Silent_p.Q35Q|SULT1A4_ENST00000395400.3_Silent_p.Q35Q|SNX29P2_ENST00000398878.3_lincRNA|SLX1B-SULT1A4_ENST00000564950.1_RNA|SULT1A4_ENST00000344620.6_Silent_p.Q35Q	NM_001017390.2	NP_001017390.1	P0DMN0	ST1A4_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4	35					catecholamine metabolic process (GO:0006584)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	aryl sulfotransferase activity (GO:0004062)										AGAGCTTCCAAGCCCGACCTG	0.627																																						dbGAP											0													2.0	2.0	2.0					16																	29472811		1105	2210	3315	-	-	-	SO:0001819	synonymous_variant	0			L34160	CCDS32427.1	16p11.2	2013-05-10			ENSG00000213648	ENSG00000213648	2.8.2.1	"""Sulfotransferases, cytosolic"""	30004	protein-coding gene	gene with protein product		615819				15358107, 15752422	Standard	NM_001017390		Approved		uc002dxk.3	P0DMN0	OTTHUMG00000170468	ENST00000360423.7:c.105A>G	16.37:g.29472811A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNV0|O95603|P50224|Q1ET66|Q6ZWJ5	Silent	SNP	pfam_Sulfotransferase_dom	p.Q35	ENST00000360423.7	37	c.105	CCDS32427.1	16																																																																																			SULT1A4	-	NULL	ENSG00000213648		0.627	SULT1A4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SULT1A4	HGNC	protein_coding	OTTHUMT00000409298.1	10	0.00	0	A	NM_001017389		29472811	29472811	+1	no_errors	ENST00000565290	ensembl	human	known	69_37n	silent	1	75.00	3	SNP	0.951	G
ZNF560	147741	genome.wustl.edu	37	19	9577375	9577375	+	Missense_Mutation	SNP	G	G	A	rs534354156		TCGA-AC-A23E-01A-11D-A159-09	TCGA-AC-A23E-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	137cb73f-394a-459a-83e6-0b3c85c955cd	a0fb9995-ee0b-4181-87e9-414ead80647d	g.chr19:9577375G>A	ENST00000301480.4	-	10	2461	c.2248C>T	c.(2248-2250)Cgt>Tgt	p.R750C		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	750					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GAGGATGTACGGAAGGCCTTC	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20166	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													115.0	108.0	110.0					19																	9577375		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.2248C>T	19.37:g.9577375G>A	ENSP00000301480:p.Arg750Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495S9|Q495T1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R750C	ENST00000301480.4	37	c.2248	CCDS12214.1	19	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339587	0.24339	.	.	ENSG00000198028	ENST00000301480	T	0.18502	2.21	1.79	0.684	0.18003	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24928	0.0605	L	0.44542	1.39	0.09310	N	1	D	0.89917	1.0	D	0.68621	0.959	T	0.11591	-1.0581	9	0.49607	T	0.09	.	2.5976	0.04858	0.2377:0.0:0.3448:0.4176	.	750	Q96MR9	ZN560_HUMAN	C	750	ENSP00000301480:R750C	ENSP00000301480:R750C	R	-	1	0	ZNF560	9438375	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-3.986000	0.00319	0.154000	0.19237	0.462000	0.41574	CGT	ZNF560	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198028		0.443	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF560	HGNC	protein_coding	OTTHUMT00000449901.1	70	0.00	0	G	NM_152476		9577375	9577375	-1	no_errors	ENST00000301480	ensembl	human	known	69_37n	missense	62	17.33	13	SNP	0.002	A
