#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
ACTR5	79913	genome.wustl.edu	37	20	37380924	37380924	+	Silent	SNP	C	C	A	rs377265358		TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr20:37380924C>A	ENST00000243903.4	+	3	793	c.756C>A	c.(754-756)atC>atA	p.I252I		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	252					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				ACAGCTACATCGCTGAGGATT	0.507																																						dbGAP											0													111.0	90.0	98.0					20																	37380924		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.756C>A	20.37:g.37380924C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	pfam_Actin-like,smart_Actin-like	p.I252	ENST00000243903.4	37	c.756	CCDS13308.1	20																																																																																			ACTR5	-	pfam_Actin-like,smart_Actin-like	ENSG00000101442		0.507	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR5	HGNC	protein_coding	OTTHUMT00000079205.2	62	0.00	0	C	NM_024855		37380924	37380924	+1	no_errors	ENST00000243903	ensembl	human	known	69_37n	silent	50	12.28	7	SNP	0.010	A
ANKRD44	91526	genome.wustl.edu	37	2	197865158	197865158	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr2:197865158C>G	ENST00000328737.2	-	23	2505	c.2429G>C	c.(2428-2430)aGa>aCa	p.R810T	ANKRD44_ENST00000282272.8_Missense_Mutation_p.R827T|ANKRD44_ENST00000337207.5_Missense_Mutation_p.R810T|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R810T			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	835										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTTGTCATCTCTACAACTGAC	0.378																																						dbGAP											0													148.0	131.0	137.0					2																	197865158		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2429G>C	2.37:g.197865158C>G	ENSP00000331516:p.Arg810Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R810T	ENST00000328737.2	37	c.2429		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.338|9.338	1.062158|1.062158	0.19987|0.19987	.|.	.|.	ENSG00000065413|ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207|ENST00000448801	T;T;T;T;T|.	0.65732|.	2.43;2.43;-0.17;-0.17;2.42|.	5.95|5.95	4.05|4.05	0.47172|0.47172	.|.	0.151766|.	0.64402|.	D|.	0.000014|.	T|.	0.24236|.	0.0587|.	L|L	0.31120|0.31120	0.905|0.905	0.26561|0.26561	N|N	0.973734|0.973734	B|.	0.24317|.	0.101|.	B|.	0.31495|.	0.131|.	T|.	0.18023|.	-1.0350|.	10|.	0.13853|.	T|.	0.58|.	.|.	1.5373|1.5373	0.02548|0.02548	0.1703:0.4679:0.1646:0.1972|0.1703:0.4679:0.1646:0.1972	.|.	853|.	Q8N8A2-2|.	.|.	T|Y	650;827;810;810;810|23	ENSP00000403415:R650T;ENSP00000282272:R827T;ENSP00000331516:R810T;ENSP00000402420:R810T;ENSP00000338794:R810T|.	ENSP00000282272:R827T|.	R|X	-|-	2|3	0|2	ANKRD44|ANKRD44	197573403|197573403	0.998000|0.998000	0.40836|0.40836	0.909000|0.909000	0.35828|0.35828	0.992000|0.992000	0.81027|0.81027	0.872000|0.872000	0.28037|0.28037	1.516000|1.516000	0.48900|0.48900	0.655000|0.655000	0.94253|0.94253	AGA|TAG	ANKRD44	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000065413		0.378	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	ANKRD44	HGNC	protein_coding	OTTHUMT00000335113.1	104	0.00	0	C	NM_153697		197865158	197865158	-1	no_errors	ENST00000328737	ensembl	human	known	69_37n	missense	69	22.47	20	SNP	0.486	G
APOBR	55911	genome.wustl.edu	37	16	28507082	28507082	+	Silent	SNP	G	G	C			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr16:28507082G>C	ENST00000431282.1	+	2	730	c.720G>C	c.(718-720)ggG>ggC	p.G240G	CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000564831.1_Silent_p.G240G|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000328423.5_Silent_p.G240G			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	240	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGGAGCCTGGGGCCGAAGGGG	0.657																																						dbGAP											0													15.0	18.0	17.0					16																	28507082		2061	4203	6264	-	-	-	SO:0001819	synonymous_variant	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.720G>C	16.37:g.28507082G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	NULL	p.G240	ENST00000431282.1	37	c.720		16																																																																																			APOBR	-	NULL	ENSG00000184730		0.657	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		57	0.00	0	G	NM_182804		28507082	28507082	+1	no_errors	ENST00000564831	ensembl	human	known	69_37n	silent	52	23.53	16	SNP	0.003	C
ATR	545	genome.wustl.edu	37	3	142274964	142274964	+	Missense_Mutation	SNP	T	T	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr3:142274964T>A	ENST00000350721.4	-	10	2217	c.2096A>T	c.(2095-2097)gAt>gTt	p.D699V	ATR_ENST00000383101.3_Missense_Mutation_p.D635V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	699					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AATGTCAGAATCATCTTTGAC	0.333								Other conserved DNA damage response genes																														dbGAP											0													83.0	85.0	84.0					3																	142274964		2203	4300	6503	-	-	-	SO:0001583	missense	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2096A>T	3.37:g.142274964T>A	ENSP00000343741:p.Asp699Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.D699V	ENST00000350721.4	37	c.2096	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	T	13.56	2.272890	0.40194	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.67698	-0.28;-0.28	4.82	4.82	0.62117	Armadillo-like helical (1);Armadillo-type fold (1);	0.351132	0.29459	N	0.012087	T	0.47857	0.1468	N	0.19112	0.55	0.51482	D	0.999924	B	0.30763	0.294	B	0.24974	0.057	T	0.46830	-0.9163	10	0.30854	T	0.27	-21.6367	10.9211	0.47165	0.0:0.0:0.1569:0.8431	.	699	Q13535	ATR_HUMAN	V	699;635	ENSP00000343741:D699V;ENSP00000372581:D635V	ENSP00000343741:D699V	D	-	2	0	ATR	143757654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.225000	0.42954	2.142000	0.66516	0.477000	0.44152	GAT	ATR	-	superfamily_ARM-type_fold	ENSG00000175054		0.333	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	67	0.00	0	T	NM_001184		142274964	142274964	-1	no_errors	ENST00000350721	ensembl	human	known	69_37n	missense	54	18.18	12	SNP	1.000	A
BACH2	60468	genome.wustl.edu	37	6	90660867	90660867	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr6:90660867G>A	ENST00000257749.4	-	7	1665	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S	RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.P320S|BACH2_ENST00000537989.1_Missense_Mutation_p.P320S	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	320						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.P320S(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGGGCCGTGGGGGTAGGGGCA	0.632																																						dbGAP											1	Substitution - Missense(1)	skin(1)											28.0	30.0	29.0					6																	90660867		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.958C>T	6.37:g.90660867G>A	ENSP00000257749:p.Pro320Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP_1,pfam_bZIP_2,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.P320S	ENST00000257749.4	37	c.958	CCDS5026.1	6	.	.	.	.	.	.	.	.	.	.	G	1.737	-0.492587	0.04322	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.36878	1.23;1.23;1.23	4.92	4.01	0.46588	.	0.262069	0.27696	N	0.018240	T	0.09423	0.0232	N	0.19112	0.55	0.22468	N	0.999072	B	0.09022	0.002	B	0.08055	0.003	T	0.06954	-1.0798	10	0.44086	T	0.13	-14.643	6.8114	0.23807	0.094:0.1792:0.7268:0.0	.	320	Q9BYV9	BACH2_HUMAN	S	320	ENSP00000257749:P320S;ENSP00000437473:P320S;ENSP00000345642:P320S	ENSP00000257749:P320S	P	-	1	0	BACH2	90717588	0.492000	0.26027	0.615000	0.29064	0.066000	0.16364	0.000000	0.12993	2.560000	0.86352	0.655000	0.94253	CCC	BACH2	-	NULL	ENSG00000112182		0.632	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2	15	0.00	0	G	NM_021813		90660867	90660867	-1	no_errors	ENST00000257749	ensembl	human	known	69_37n	missense	9	30.77	4	SNP	0.273	A
BAG4	9530	genome.wustl.edu	37	8	38067546	38067546	+	Silent	SNP	C	C	T			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr8:38067546C>T	ENST00000287322.4	+	5	1180	c.909C>T	c.(907-909)agC>agT	p.S303S	BAG4_ENST00000432471.2_Silent_p.S267S	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	303					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				ACCCCTATAGCCAATCAGATC	0.423																																						dbGAP											0													140.0	131.0	134.0					8																	38067546		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.909C>T	8.37:g.38067546C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E217|O95818	Silent	SNP	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.S303	ENST00000287322.4	37	c.909	CCDS6104.1	8																																																																																			BAG4	-	NULL	ENSG00000156735		0.423	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG4	HGNC	protein_coding	OTTHUMT00000377038.2	35	0.00	0	C	NM_004874		38067546	38067546	+1	no_errors	ENST00000287322	ensembl	human	known	69_37n	silent	24	29.41	10	SNP	0.377	T
BTBD11	121551	genome.wustl.edu	37	12	108012010	108012010	+	Silent	SNP	C	C	A	rs375379802		TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr12:108012010C>A	ENST00000280758.5	+	10	2835	c.2307C>A	c.(2305-2307)gcC>gcA	p.A769A	BTBD11_ENST00000490090.2_Silent_p.A769A|BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000357167.4_Silent_p.A306A|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	769						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGATTCTGGCCGAGGGGACTG	0.602																																						dbGAP											0													59.0	60.0	60.0					12																	108012010		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2307C>A	12.37:g.108012010C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.A769	ENST00000280758.5	37	c.2307	CCDS31893.1	12																																																																																			BTBD11	-	NULL	ENSG00000151136		0.602	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	24	0.00	0	C	NM_152322		108012010	108012010	+1	no_errors	ENST00000280758	ensembl	human	known	69_37n	silent	20	28.57	8	SNP	0.892	A
PAGR1	79447	genome.wustl.edu	37	16	29828128	29828128	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr16:29828128G>C	ENST00000320330.6	+	1	844	c.282G>C	c.(280-282)gaG>gaC	p.E94D	AC009133.20_ENST00000569039.1_RNA|AC009133.12_ENST00000564980.1_RNA|AC009133.12_ENST00000569809.1_RNA|PAGR1_ENST00000609618.1_Missense_Mutation_p.E94D			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	94	Glu-rich.					histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											GCAGCGACGAGGAGGTGGAGC	0.697											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													9.0	8.0	8.0					16																	29828128		2151	4253	6404	-	-	-	SO:0001583	missense	0			BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"""glutamate-rich coactivator interacting with SRC1/NCOA1"", ""PTIP-associated 1 protein"", ""glutamate-rich coactivator associated with SRC1"""	612033	"""chromosome 16 open reading frame 53"""	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.282G>C	16.37:g.29828128G>C	ENSP00000326519:p.Glu94Asp	Somatic	812	WXS	Illumina GAIIx	Phase_IV	A2ICR6	Missense_Mutation	SNP	NULL	p.E94D	ENST00000320330.6	37	c.282	CCDS10655.1	16	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267019	0.80469	.	.	ENSG00000185928	ENST00000320330	.	.	.	5.34	-0.704	0.11256	.	0.109102	0.64402	N	0.000010	T	0.31009	0.0783	N	0.25380	0.74	0.35495	D	0.7993	B	0.11235	0.004	B	0.12156	0.007	T	0.16482	-1.0401	9	0.16896	T	0.51	-7.1614	7.3453	0.26660	0.1596:0.3819:0.4585:0.0	.	94	Q9BTK6	PA1_HUMAN	D	94	.	ENSP00000326519:E94D	E	+	3	2	C16orf53	29735629	1.000000	0.71417	0.992000	0.48379	0.957000	0.61999	1.248000	0.32827	-0.067000	0.12976	0.563000	0.77884	GAG	C16orf53	-	NULL	ENSG00000185928		0.697	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	C16orf53	HGNC	protein_coding	OTTHUMT00000473165.1	8	0.00	0	G	NM_024516		29828128	29828128	+1	no_errors	ENST00000320330	ensembl	human	known	69_37n	missense	6	40.00	4	SNP	1.000	C
CA14	23632	genome.wustl.edu	37	1	150230552	150230552	+	Missense_Mutation	SNP	T	T	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr1:150230552T>A	ENST00000369111.4	+	1	999	c.29T>A	c.(28-30)gTg>gAg	p.V10E	RP4-790G17.7_ENST00000607002.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	10					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	CTGCTGGAGGTGATTTGGATC	0.542																																						dbGAP											0													172.0	143.0	153.0					1																	150230552		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.29T>A	1.37:g.150230552T>A	ENSP00000358107:p.Val10Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TB24|Q8NCF4	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.V10E	ENST00000369111.4	37	c.29	CCDS947.1	1	.	.	.	.	.	.	.	.	.	.	T	17.48	3.400178	0.62177	.	.	ENSG00000118298	ENST00000369111	T	0.67865	-0.29	4.79	3.62	0.41486	.	0.755954	0.12188	N	0.491479	T	0.48786	0.1519	L	0.50333	1.59	0.35161	D	0.770697	P;P	0.48911	0.895;0.917	P;B	0.44597	0.454;0.446	T	0.50709	-0.8796	10	0.72032	D	0.01	.	8.3552	0.32327	0.0:0.0:0.1998:0.8002	.	10;10	B4DI00;Q9ULX7	.;CAH14_HUMAN	E	10	ENSP00000358107:V10E	ENSP00000358107:V10E	V	+	2	0	CA14	148497176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.243000	0.32767	0.914000	0.36822	0.460000	0.39030	GTG	CA14	-	NULL	ENSG00000118298		0.542	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA14	HGNC	protein_coding	OTTHUMT00000035064.2	218	0.00	0	T	NM_012113		150230552	150230552	+1	no_errors	ENST00000369111	ensembl	human	known	69_37n	missense	150	17.93	33	SNP	1.000	A
CPNE1	8904	genome.wustl.edu	37	20	34218833	34218833	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr20:34218833C>T	ENST00000317619.3	-	13	1379	c.985G>A	c.(985-987)Gac>Aac	p.D329N	CPNE1_ENST00000397443.1_Missense_Mutation_p.D329N|CPNE1_ENST00000352393.4_Missense_Mutation_p.D329N|CPNE1_ENST00000397446.1_Missense_Mutation_p.D329N|CPNE1_ENST00000397445.1_Missense_Mutation_p.D329N|CPNE1_ENST00000317677.5_Missense_Mutation_p.D334N|CPNE1_ENST00000397442.1_Missense_Mutation_p.D329N			Q99829	CPNE1_HUMAN	copine I	329	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GAGTCATAGTCCTGAACCACG	0.557																																						dbGAP											0													159.0	130.0	140.0					20																	34218833		2203	4300	6503	-	-	-	SO:0001583	missense	0			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.985G>A	20.37:g.34218833C>T	ENSP00000326126:p.Asp329Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting	p.D334N	ENST00000317619.3	37	c.1000	CCDS13260.1	20	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574585	0.86542	.	.	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000430570;ENST00000412056	T;T;T;T;T;T;T;T;T;T	0.26660	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.72	5.48	5.48	0.80851	von Willebrand factor, type A (1);Copine (1);	0.000000	0.85682	U	0.000000	T	0.56307	0.1976	M	0.81942	2.565	0.54753	D	0.999987	D;D;B;D	0.89917	1.0;1.0;0.36;1.0	D;D;P;D	0.91635	0.995;0.999;0.566;0.999	T	0.59177	-0.7503	10	0.87932	D	0	-2.733	19.1224	0.93369	0.0:1.0:0.0:0.0	.	334;329;329;309	B0QZ18;A6PVH9;Q99829;Q59EI4	.;.;CPNE1_HUMAN;.	N	329;334;329;329;329;329;329;329;305;305	ENSP00000336945:D329N;ENSP00000317257:D334N;ENSP00000326126:D329N;ENSP00000380588:D329N;ENSP00000380587:D329N;ENSP00000380585:D329N;ENSP00000380584:D329N;ENSP00000415597:D329N;ENSP00000390626:D305N;ENSP00000416962:D305N	ENSP00000326126:D329N	D	-	1	0	CPNE1	33682247	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.590000	0.82653	2.848000	0.98002	0.655000	0.94253	GAC	CPNE1	-	pfam_Copine,smart_VWF_A	ENSG00000214078		0.557	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE1	HGNC	protein_coding	OTTHUMT00000078909.3	86	0.00	0	C	NM_152930		34218833	34218833	-1	no_errors	ENST00000317677	ensembl	human	known	69_37n	missense	80	10.11	9	SNP	1.000	T
CTNNAL1	8727	genome.wustl.edu	37	9	111775599	111775599	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr9:111775599G>C	ENST00000325551.4	-	1	210	c.124C>G	c.(124-126)Ctc>Gtc	p.L42V	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.L42V|CTNNAL1_ENST00000374593.4_Missense_Mutation_p.L42V|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.L42V	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	42					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		ACCAGCGGGAGTAGCGTCTGC	0.706																																						dbGAP											0													10.0	13.0	12.0					9																	111775599		1764	3443	5207	-	-	-	SO:0001583	missense	0			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.124C>G	9.37:g.111775599G>C	ENSP00000320434:p.Leu42Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	p.L42V	ENST00000325551.4	37	c.124	CCDS6775.1	9	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312257	0.23908	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374593	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	3.82	3.82	0.43975	.	0.326853	0.20561	N	0.089901	T	0.22627	0.0546	N	0.19112	0.55	0.22354	N	0.999172	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.10941	-1.0608	10	0.28530	T	0.3	-3.2276	11.0667	0.47979	0.0:0.0:1.0:0.0	.	42;42;42	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	V	42	ENSP00000363723:L42V;ENSP00000320434:L42V;ENSP00000323351:L42V;ENSP00000363721:L42V	ENSP00000320434:L42V	L	-	1	0	CTNNAL1	110815420	0.966000	0.33281	0.995000	0.50966	0.707000	0.40811	0.900000	0.28431	1.937000	0.56155	0.555000	0.69702	CTC	CTNNAL1	-	pfam_Vinculin/catenin,prints_Alpha_catenin	ENSG00000119326		0.706	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTNNAL1	HGNC	protein_coding	OTTHUMT00000053577.1	14	0.00	0	G	NM_003798		111775599	111775599	-1	no_errors	ENST00000325551	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	0.567	C
CUL4B	8450	genome.wustl.edu	37	X	119673224	119673224	+	Missense_Mutation	SNP	T	T	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chrX:119673224T>A	ENST00000404115.3	-	14	2095	c.1694A>T	c.(1693-1695)aAg>aTg	p.K565M	CUL4B_ENST00000336592.6_Missense_Mutation_p.K552M|CUL4B_ENST00000371322.5_Missense_Mutation_p.K547M	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	565					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATCTACATACTTAGCTAAAAT	0.343																																						dbGAP											0													64.0	54.0	57.0					X																	119673224		2201	4298	6499	-	-	-	SO:0001583	missense	0			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1694A>T	X.37:g.119673224T>A	ENSP00000384109:p.Lys565Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.K565M	ENST00000404115.3	37	c.1694	CCDS35379.1	X	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501534	0.85176	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.76186	-1.0;-1.0;-1.0	5.69	5.69	0.88448	Cullin, N-terminal (1);Cullin homology (2);	0.000000	0.85682	D	0.000000	D	0.89691	0.6788	H	0.94345	3.525	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.961;1.0;1.0	D	0.92328	0.5871	9	.	.	.	-13.5537	14.008	0.64478	0.0:0.0:0.0:1.0	.	369;565;547	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	M	547;552;565	ENSP00000360373:K547M;ENSP00000338919:K552M;ENSP00000384109:K565M	.	K	-	2	0	CUL4B	119557252	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.040000	0.89188	1.905000	0.55150	0.486000	0.48141	AAG	CUL4B	-	pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology	ENSG00000158290		0.343	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1	181	0.00	0	T	NM_003588		119673224	119673224	-1	no_errors	ENST00000404115	ensembl	human	known	69_37n	missense	121	12.95	18	SNP	1.000	A
DNAH12	201625	genome.wustl.edu	37	3	57394164	57394164	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr3:57394164C>T	ENST00000351747.2	-	40	6242	c.6062G>A	c.(6061-6063)cGt>cAt	p.R2021H		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	2021	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCGAATACAACGGGGAGTAAC	0.423																																						dbGAP											0													105.0	90.0	94.0					3																	57394164		692	1591	2283	-	-	-	SO:0001583	missense	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.6062G>A	3.37:g.57394164C>T	ENSP00000295937:p.Arg2021His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R2021H	ENST00000351747.2	37	c.6062		3	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428201	0.83667	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	T;T	0.51071	0.72;0.72	5.21	5.21	0.72293	ATPase, AAA+ type, core (1);	.	.	.	.	D	0.82921	0.5142	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90694	0.4615	9	0.87932	D	0	.	18.76	0.91847	0.0:1.0:0.0:0.0	.	2021	Q6ZR08	DYH12_HUMAN	H	2021;2040	ENSP00000295937:R2021H;ENSP00000418137:R2040H	ENSP00000295937:R2021H	R	-	2	0	DNAH12	57369204	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.589000	0.82641	2.421000	0.82119	0.557000	0.71058	CGT	DNAH12	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	ENSG00000174844		0.423	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		44	0.00	0	C	NM_178504		57394164	57394164	-1	no_errors	ENST00000351747	ensembl	human	known	69_37n	missense	41	10.87	5	SNP	1.000	T
DOCK11	139818	genome.wustl.edu	37	X	117743298	117743298	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chrX:117743298G>C	ENST00000276202.7	+	27	2998	c.2935G>C	c.(2935-2937)Gag>Cag	p.E979Q	DOCK11_ENST00000276204.6_Missense_Mutation_p.E979Q	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	979					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTTGTTGGAAGAGAATAAGAT	0.274																																						dbGAP											0													41.0	44.0	43.0					X																	117743298		2200	4287	6487	-	-	-	SO:0001583	missense	0			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2935G>C	X.37:g.117743298G>C	ENSP00000276202:p.Glu979Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E979Q	ENST00000276202.7	37	c.2935	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293538	0.40594	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.03524	3.9;3.9	5.27	5.27	0.74061	.	0.105788	0.64402	D	0.000006	T	0.07143	0.0181	L	0.51422	1.61	0.35345	D	0.786858	P;P	0.46859	0.885;0.885	B;B	0.44315	0.446;0.446	T	0.43523	-0.9386	10	0.27785	T	0.31	-6.0426	18.2229	0.89907	0.0:0.0:1.0:0.0	.	979;979	A6NIW2;Q5JSL3	.;DOC11_HUMAN	Q	979	ENSP00000276204:E979Q;ENSP00000276202:E979Q	ENSP00000276202:E979Q	E	+	1	0	DOCK11	117627326	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	4.609000	0.61148	2.327000	0.79052	0.544000	0.68410	GAG	DOCK11	-	NULL	ENSG00000147251		0.274	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	46	0.00	0	G	NM_144658		117743298	117743298	+1	no_errors	ENST00000276202	ensembl	human	known	69_37n	missense	42	10.64	5	SNP	1.000	C
DOCK11	139818	genome.wustl.edu	37	X	117788579	117788580	+	Missense_Mutation	DNP	CG	CG	AT	rs139362247		TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C|G	C|G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chrX:117788579_117788580CG>AT	ENST00000276202.7	+	43	4773_4774	c.4710_4711CG>AT	c.(4708-4713)ccCGca>ccATca	p.A1571S	DOCK11_ENST00000276204.6_Missense_Mutation_p.A1571S	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1571					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTGCCTTTCCCGCAGAAGTCAA	0.421																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	Exception_encountered	X.37:g.117788579_117788580delinsAT	ENSP00000276202:p.Ala1571Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent|Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P1570|p.A1571S	ENST00000276202.7	37	c.4710|c.4711	CCDS35373.1	X																																																																																			DOCK11	-	NULL	ENSG00000147251		0.421	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	47	0.00	0	C|G	NM_144658		117788579|117788580	117788579|117788580	+1	no_errors	ENST00000276202	ensembl	human	known	69_37n	silent|missense	28	24.32	9	SNP	0.566|0.580	A|T
EEA1	8411	genome.wustl.edu	37	12	93221730	93221732	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	TTG	TTG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr12:93221730_93221732delTTG	ENST00000322349.8	-	12	1624_1626	c.1360_1362delCAA	c.(1360-1362)caadel	p.Q454del		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	454	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AATCAGCCACTTGTTGTTCTTTA	0.404																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1360_1362delCAA	12.37:g.93221733_93221735delTTG	ENSP00000317955:p.Gln454del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14221	In_Frame_Del	DEL	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.Q454in_frame_del	ENST00000322349.8	37	c.1362_1360	CCDS31874.1	12																																																																																			EEA1	-	NULL	ENSG00000102189		0.404	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEA1	HGNC	protein_coding	OTTHUMT00000407304.1	113	0.00	0	TTG	NM_003566		93221730	93221732	-1	no_errors	ENST00000322349	ensembl	human	known	69_37n	in_frame_del	98	10.71	12	DEL	1.000:1.000:1.000	-
EIF5B	9669	genome.wustl.edu	37	2	100007074	100007074	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr2:100007074G>C	ENST00000289371.6	+	17	2856	c.2654G>C	c.(2653-2655)gGa>gCa	p.G885A		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	885					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTGAAGGAAGGAGATACAATC	0.453																																					Colon(162;2388 2567 2705 3444)	dbGAP											0													171.0	160.0	163.0					2																	100007074		1956	4158	6114	-	-	-	SO:0001583	missense	0			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.2654G>C	2.37:g.100007074G>C	ENSP00000289371:p.Gly885Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.G885A	ENST00000289371.6	37	c.2654	CCDS42721.1	2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703271	0.88924	.	.	ENSG00000158417	ENST00000289371	T	0.80304	-1.36	5.53	4.64	0.57946	Translation elongation factor EFTu/EF1A, domain 2 (1);	.	.	.	.	D	0.92453	0.7604	H	0.95504	3.68	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	D	0.94785	0.7957	8	.	.	.	-29.6936	16.0439	0.80704	0.0:0.0:0.8645:0.1355	.	885	O60841	IF2P_HUMAN	A	885	ENSP00000289371:G885A	.	G	+	2	0	EIF5B	99373506	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.700000	0.98707	1.438000	0.47492	-0.314000	0.08810	GGA	EIF5B	-	pfam_Transl_elong_EFTu/EF1A_2	ENSG00000158417		0.453	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	86	0.00	0	G	NM_015904		100007074	100007074	+1	no_errors	ENST00000289371	ensembl	human	known	69_37n	missense	69	25.81	24	SNP	1.000	C
TMEM199	147007	genome.wustl.edu	37	17	26691976	26691976	+	IGR	SNP	G	G	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr17:26691976G>A	ENST00000292114.3	+	0	3148				VTN_ENST00000438614.1_Splice_Site_p.D36D|VTN_ENST00000431468.1_Splice_Site_p.D37D|CTB-96E2.7_ENST00000577850.1_RNA|CTB-96E2.2_ENST00000555059.2_Splice_Site_p.R111W|CTB-96E2.3_ENST00000591482.1_RNA|VTN_ENST00000536498.1_Splice_Site_p.D36D|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CGCTGCCACCGTCTGCAGGCC	0.637																																						dbGAP											0													26.0	32.0	30.0					17																	26691976		2153	4254	6407	-	-	-	SO:0001628	intergenic_variant	0			AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26691976G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin	p.R111W	ENST00000292114.3	37	c.331	CCDS11228.1	17																																																																																			CTB-96E2.2	-	superfamily_Hemopexin/matrixin	ENSG00000258852		0.637	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258852	Clone_based_vega_gene	protein_coding	OTTHUMT00000255676.2	33	0.00	0	G	NM_152464		26691976	26691976	-1	no_start_codon	ENST00000555059	ensembl	human	putative	69_37n	missense	33	13.16	5	SNP	0.008	A
EPHA1	2041	genome.wustl.edu	37	7	143091403	143091403	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr7:143091403C>G	ENST00000275815.3	-	15	2472	c.2386G>C	c.(2386-2388)Gaa>Caa	p.E796Q	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	796	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCAATGGCTTCAGGGGCTGTC	0.547																																						dbGAP											0													127.0	108.0	115.0					7																	143091403		2203	4300	6503	-	-	-	SO:0001583	missense	0			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2386G>C	7.37:g.143091403C>G	ENSP00000275815:p.Glu796Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.E796Q	ENST00000275815.3	37	c.2386	CCDS5884.1	7	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918310	0.92249	.	.	ENSG00000146904	ENST00000275815	D	0.84370	-1.84	4.67	4.67	0.58626	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000010	D	0.94013	0.8082	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95210	0.8324	10	0.87932	D	0	.	18.1375	0.89624	0.0:1.0:0.0:0.0	.	796	P21709	EPHA1_HUMAN	Q	796	ENSP00000275815:E796Q	ENSP00000275815:E796Q	E	-	1	0	EPHA1	142801525	1.000000	0.71417	0.969000	0.41365	0.968000	0.65278	7.583000	0.82559	2.576000	0.86940	0.655000	0.94253	GAA	EPHA1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000146904		0.547	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA1	HGNC	protein_coding	OTTHUMT00000342154.1	78	0.00	0	C			143091403	143091403	-1	no_errors	ENST00000275815	ensembl	human	known	69_37n	missense	56	20.00	14	SNP	1.000	G
FLRT3	23767	genome.wustl.edu	37	20	14307453	14307453	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr20:14307453G>A	ENST00000378053.3	-	2	956	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.R234W	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	234					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AGGGAATTCCGCACCAGGGAC	0.448																																						dbGAP											0													49.0	49.0	49.0					20																	14307453		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.700C>T	20.37:g.14307453G>A	ENSP00000367292:p.Arg234Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.R234W	ENST00000378053.3	37	c.700	CCDS13121.1	20	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044358	0.36085	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.57907	0.37;0.37	6.01	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.66509	0.2796	L	0.60957	1.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61811	-0.6986	10	0.26408	T	0.33	-8.0629	15.1241	0.72469	0.0:0.0:0.6295:0.3705	.	234	Q9NZU0	FLRT3_HUMAN	W	234	ENSP00000367292:R234W;ENSP00000339912:R234W	ENSP00000339912:R234W	R	-	1	2	FLRT3	14255453	1.000000	0.71417	0.529000	0.27951	0.863000	0.49368	4.421000	0.59848	0.363000	0.24346	-0.188000	0.12872	CGG	FLRT3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000125848		0.448	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT3	HGNC	protein_coding	OTTHUMT00000078075.1	14	0.00	0	G	NM_013281		14307453	14307453	-1	no_errors	ENST00000341420	ensembl	human	known	69_37n	missense	10	44.44	8	SNP	0.948	A
FMNL2	114793	genome.wustl.edu	37	2	153435429	153435429	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr2:153435429C>G	ENST00000288670.9	+	8	1100	c.733C>G	c.(733-735)Cca>Gca	p.P245A		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	245	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)		p.P245S(2)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CATGTCTCATCCACACGCTGT	0.378																																						dbGAP											2	Substitution - Missense(2)	liver(2)											76.0	72.0	73.0					2																	153435429		1930	4164	6094	-	-	-	SO:0001583	missense	0			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.733C>G	2.37:g.153435429C>G	ENSP00000288670:p.Pro245Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,prints_Wilms_tumour	p.P245A	ENST00000288670.9	37	c.733	CCDS46429.1	2	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640693	0.67244	.	.	ENSG00000157827	ENST00000288670	D	0.88509	-2.39	5.72	5.72	0.89469	.	0.049878	0.85682	D	0.000000	D	0.87811	0.6271	L	0.58925	1.835	0.80722	D	1	P	0.37330	0.59	B	0.34652	0.187	D	0.87557	0.2469	10	0.51188	T	0.08	.	19.4836	0.95020	0.0:1.0:0.0:0.0	.	245	Q96PY5-3	.	A	245	ENSP00000288670:P245A	ENSP00000288670:P245A	P	+	1	0	FMNL2	153143675	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.889000	0.69766	2.700000	0.92200	0.563000	0.77884	CCA	FMNL2	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold	ENSG00000157827		0.378	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	HGNC	protein_coding	OTTHUMT00000333582.2	76	0.00	0	C	NM_052905		153435429	153435429	+1	no_errors	ENST00000288670	ensembl	human	known	69_37n	missense	47	24.19	15	SNP	1.000	G
FSTL4	23105	genome.wustl.edu	37	5	132652191	132652191	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr5:132652191G>C	ENST00000265342.7	-	5	812	c.563C>G	c.(562-564)gCa>gGa	p.A188G		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	188	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTGCCATCTGCATCTAAGTC	0.557											OREG0016777	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													83.0	77.0	79.0					5																	132652191		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.563C>G	5.37:g.132652191G>C	ENSP00000265342:p.Ala188Gly	Somatic	1597	WXS	Illumina GAIIx	Phase_IV	Q8TBU0|Q9UPU1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like	p.A188G	ENST00000265342.7	37	c.563	CCDS34238.1	5	.	.	.	.	.	.	.	.	.	.	G	4.447	0.082801	0.08533	.	.	ENSG00000053108	ENST00000265342	T	0.59906	0.23	5.41	1.47	0.22746	EF-hand-like domain (1);	0.918379	0.09482	N	0.796251	T	0.45696	0.1355	L	0.58302	1.8	0.09310	N	1	B	0.32302	0.363	B	0.24006	0.05	T	0.29366	-1.0014	10	0.27082	T	0.32	-1.1755	4.9256	0.13892	0.3054:0.0:0.5509:0.1437	.	188	Q6MZW2	FSTL4_HUMAN	G	188	ENSP00000265342:A188G	ENSP00000265342:A188G	A	-	2	0	FSTL4	132680090	0.001000	0.12720	0.032000	0.17829	0.109000	0.19521	1.216000	0.32443	0.785000	0.33685	0.561000	0.74099	GCA	FSTL4	-	pfscan_EF_HAND_2	ENSG00000053108		0.557	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL4	HGNC	protein_coding	OTTHUMT00000370212.1	40	0.00	0	G	XM_048786		132652191	132652191	-1	no_errors	ENST00000265342	ensembl	human	known	69_37n	missense	40	27.27	15	SNP	0.000	C
GH1	2688	genome.wustl.edu	37	17	61994783	61994783	+	Silent	SNP	G	G	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr17:61994783G>A	ENST00000323322.5	-	5	582	c.540C>T	c.(538-540)gaC>gaT	p.D180D	GH1_ENST00000351388.4_Silent_p.D140D|GH1_ENST00000458650.2_Silent_p.D165D|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000342364.4_Silent_p.D85D	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	180					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						TGAGTAGTGCGTCATCGTTGT	0.552																																						dbGAP											0													269.0	208.0	228.0					17																	61994783		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.540C>T	17.37:g.61994783G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Silent	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.D180	ENST00000323322.5	37	c.540	CCDS11653.1	17																																																																																			GH1	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	ENSG00000259384		0.552	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GH1	HGNC	protein_coding	OTTHUMT00000417708.1	286	0.00	0	G	NM_000515		61994783	61994783	-1	no_errors	ENST00000323322	ensembl	human	known	69_37n	silent	167	35.02	90	SNP	0.648	A
GPRASP1	9737	genome.wustl.edu	37	X	101910990	101910990	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chrX:101910990G>A	ENST00000361600.5	+	5	2950	c.2149G>A	c.(2149-2151)Gag>Aag	p.E717K	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Missense_Mutation_p.E717K|GPRASP1_ENST00000415986.1_Missense_Mutation_p.E717K|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E717K	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	717	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CACAAAGCCAGAGGCCATTAT	0.468																																						dbGAP											0													102.0	98.0	100.0					X																	101910990		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2149G>A	X.37:g.101910990G>A	ENSP00000355146:p.Glu717Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43168|Q96LA1	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.E717K	ENST00000361600.5	37	c.2149	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736449	0.30774	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	2.6	1.72	0.24424	.	.	.	.	.	T	0.08088	0.0202	L	0.43152	1.355	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.41520	-0.9504	9	0.17832	T	0.49	0.3206	4.2755	0.10806	0.3429:0.0:0.6571:0.0	.	717	Q5JY77	GASP1_HUMAN	K	717	ENSP00000393691:E717K;ENSP00000409420:E717K;ENSP00000355146:E717K;ENSP00000445683:E717K	ENSP00000355146:E717K	E	+	1	0	GPRASP1	101797646	0.869000	0.29996	0.011000	0.14972	0.856000	0.48823	1.644000	0.37228	0.530000	0.28619	0.519000	0.50382	GAG	GPRASP1	-	NULL	ENSG00000198932		0.468	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	61	0.00	0	G	NM_014710		101910990	101910990	+1	no_errors	ENST00000361600	ensembl	human	known	69_37n	missense	52	10.34	6	SNP	0.035	A
HRNR	388697	genome.wustl.edu	37	1	152192919	152192919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr1:152192919G>A	ENST00000368801.2	-	3	1261	c.1186C>T	c.(1186-1188)Cag>Tag	p.Q396*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	396					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAAGACTGACGTGAGCTG	0.597																																						dbGAP											0													158.0	135.0	143.0					1																	152192919		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1186C>T	1.37:g.152192919G>A	ENSP00000357791:p.Gln396*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.Q396*	ENST00000368801.2	37	c.1186	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668997	0.67814	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.48	-1.72	0.08107	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	8.5991	0.33734	0.0:0.4834:0.3621:0.1545	.	.	.	.	X	396	.	ENSP00000357791:Q396X	Q	-	1	0	HRNR	150459543	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.233000	0.17911	-0.439000	0.07222	0.644000	0.83932	CAG	HRNR	-	NULL	ENSG00000197915		0.597	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	133	0.00	0	G	XM_373868		152192919	152192919	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	nonsense	106	18.46	24	SNP	0.000	A
ICE1	23379	genome.wustl.edu	37	5	5464537	5464537	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr5:5464537C>T	ENST00000296564.7	+	13	5312	c.5090C>T	c.(5089-5091)tCt>tTt	p.S1697F		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1697	Pro-rich.				positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCAGATCCTTCTCCATCTCCA	0.612																																						dbGAP											0													94.0	98.0	97.0					5																	5464537		2085	4210	6295	-	-	-	SO:0001583	missense	0																														ENST00000296564.7:c.5090C>T	5.37:g.5464537C>T	ENSP00000296564:p.Ser1697Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.S1697F	ENST00000296564.7	37	c.5090	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035351	0.54896	.	.	ENSG00000164151	ENST00000296564	T	0.13420	2.59	5.27	3.32	0.38043	.	.	.	.	.	T	0.28466	0.0704	L	0.44542	1.39	0.09310	N	1	D	0.71674	0.998	D	0.70935	0.971	T	0.06180	-1.0841	9	0.87932	D	0	-10.1705	12.9105	0.58177	0.0:0.6875:0.3125:0.0	.	1697	Q9Y2F5	K0947_HUMAN	F	1697	ENSP00000296564:S1697F	ENSP00000296564:S1697F	S	+	2	0	KIAA0947	5517537	0.931000	0.31567	0.004000	0.12327	0.047000	0.14425	3.505000	0.53356	1.170000	0.42753	0.460000	0.39030	TCT	KIAA0947	-	NULL	ENSG00000164151		0.612	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	39	0.00	0	C			5464537	5464537	+1	no_errors	ENST00000296564	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	0.053	T
KSR2	283455	genome.wustl.edu	37	12	117977596	117977596	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr12:117977596T>C	ENST00000339824.5	-	10	2342	c.1615A>G	c.(1615-1617)Agt>Ggt	p.S539G	KSR2_ENST00000425217.1_Missense_Mutation_p.S510G|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.S236G			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	539	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCGTGGCACTAGGAGGGAGG	0.642																																						dbGAP											0													71.0	83.0	79.0					12																	117977596		2121	4220	6341	-	-	-	SO:0001583	missense	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1615A>G	12.37:g.117977596T>C	ENSP00000339952:p.Ser539Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.S539G	ENST00000339824.5	37	c.1615		12	.	.	.	.	.	.	.	.	.	.	T	26.0	4.699954	0.88924	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.87887	-1.3;-1.3;-2.31	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.90807	0.7113	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89297	0.3623	10	0.30078	T	0.28	.	14.9375	0.70967	0.0:0.0:0.0:1.0	.	539	Q6VAB6	KSR2_HUMAN	G	510;539;236;211	ENSP00000389715:S510G;ENSP00000339952:S539G;ENSP00000305466:S236G	ENSP00000305466:S236G	S	-	1	0	KSR2	116461979	1.000000	0.71417	0.998000	0.56505	0.696000	0.40369	7.767000	0.85331	2.103000	0.63969	0.533000	0.62120	AGT	KSR2	-	NULL	ENSG00000171435		0.642	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	202	0.00	0	T	NM_173598		117977596	117977596	-1	no_errors	ENST00000339824	ensembl	human	known	69_37n	missense	114	26.45	41	SNP	1.000	C
MCC	4163	genome.wustl.edu	37	5	112824046	112824048	+	In_Frame_Del	DEL	GCT	GCT	-	rs35336557|rs531679771	byFrequency	TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	GCT	GCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr5:112824046_112824048delGCT	ENST00000408903.3	-	1	479_481	c.64_66delAGC	c.(64-66)agcdel	p.S22del		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		tgctgctgccgctgccgccgccg	0.734																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.64_66delAGC	5.37:g.112824046_112824048delGCT	ENSP00000386227:p.Ser22del	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT05|Q6ZR04	In_Frame_Del	DEL	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.S22in_frame_del	ENST00000408903.3	37	c.66_64	CCDS43351.1	5																																																																																			MCC	-	NULL	ENSG00000171444		0.734	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000370839.1	14	0.00	0	GCT	NM_001085377		112824046	112824048	-1	no_errors	ENST00000408903	ensembl	human	putative	69_37n	in_frame_del	4	33.33	2	DEL	0.733:0.827:0.854	-
NDUFV3	4731	genome.wustl.edu	37	21	44323603	44323603	+	Intron	SNP	G	G	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr21:44323603G>A	ENST00000340344.4	+	3	235				NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000354250.2_Missense_Mutation_p.D161N	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		CAGCTCCTCTGATTCTGAATC	0.522																																						dbGAP											0													99.0	100.0	100.0					21																	44323603		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-5371G>A	21.37:g.44323603G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	NULL	p.D161N	ENST00000340344.4	37	c.481	CCDS33573.1	21	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656396	0.67586	.	.	ENSG00000160194	ENST00000354250	T	0.41400	1.0	5.84	4.96	0.65561	.	0.160824	0.53938	D	0.000057	T	0.48572	0.1507	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.49214	-0.8963	10	0.56958	D	0.05	-15.4085	8.2382	0.31638	0.2118:0.0:0.7882:0.0	.	161	P56181-2	.	N	161	ENSP00000346196:D161N	ENSP00000346196:D161N	D	+	1	0	NDUFV3	43196672	1.000000	0.71417	0.102000	0.21198	0.651000	0.38670	4.247000	0.58750	1.470000	0.48102	0.655000	0.94253	GAT	NDUFV3	-	NULL	ENSG00000160194		0.522	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFV3	HGNC	protein_coding	OTTHUMT00000195448.2	37	0.00	0	G			44323603	44323603	+1	no_errors	ENST00000354250	ensembl	human	known	69_37n	missense	24	20.00	6	SNP	0.802	A
NOS1	4842	genome.wustl.edu	37	12	117696222	117696222	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr12:117696222G>T	ENST00000338101.4	-	15	2515	c.2511C>A	c.(2509-2511)aaC>aaA	p.N837K	NOS1_ENST00000317775.6_Missense_Mutation_p.N837K|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCTGCACAGAGTTGGGGTGCC	0.493																																					Esophageal Squamous(162;1748 2599 51982 52956)	dbGAP											0													93.0	90.0	91.0					12																	117696222		1946	4135	6081	-	-	-	SO:0001583	missense	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2511C>A	12.37:g.117696222G>T	ENSP00000337459:p.Asn837Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.N837K	ENST00000338101.4	37	c.2511	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734432	0.30774	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101;ENST00000544320	T;T	0.72505	-0.66;-0.66	5.42	4.52	0.55395	Flavodoxin/nitric oxide synthase (2);	0.045571	0.85682	D	0.000000	T	0.52240	0.1722	N	0.12569	0.235	0.80722	D	1	P	0.41188	0.741	B	0.42462	0.388	T	0.50533	-0.8817	10	0.09338	T	0.73	-37.6	13.2457	0.60022	0.0767:0.0:0.9233:0.0	.	837	P29475	NOS1_HUMAN	K	732;837;837;837;3	ENSP00000320758:N837K;ENSP00000337459:N837K	ENSP00000320758:N837K	N	-	3	2	NOS1	116180605	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.309000	0.43699	2.537000	0.85549	0.655000	0.94253	AAC	NOS1	-	pfam_Flavodoxin/NO_synth,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth	ENSG00000089250		0.493	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	87	0.00	0	G			117696222	117696222	-1	no_errors	ENST00000317775	ensembl	human	known	69_37n	missense	65	15.58	12	SNP	1.000	T
OPTN	10133	genome.wustl.edu	37	10	13174129	13174129	+	Silent	SNP	A	A	G			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr10:13174129A>G	ENST00000378748.3	+	14	1826	c.1464A>G	c.(1462-1464)gaA>gaG	p.E488E	OPTN_ENST00000263036.5_Silent_p.E488E|OPTN_ENST00000378764.2_Silent_p.E482E|OPTN_ENST00000378752.3_Silent_p.E482E|OPTN_ENST00000378747.3_Silent_p.E488E|OPTN_ENST00000378757.2_Silent_p.E488E	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	488	Interaction with HD.|Interaction with MYO6.				cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TTCATGAGGAAAAGGAGCAAC	0.443																																						dbGAP											0													119.0	116.0	117.0					10																	13174129		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"""glaucoma 1, open angle, E (adult-onset)"""	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.1464A>G	10.37:g.13174129A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Silent	SNP	pfam_NEMO_N	p.E488	ENST00000378748.3	37	c.1464	CCDS7094.1	10																																																																																			OPTN	-	NULL	ENSG00000123240		0.443	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPTN	HGNC	protein_coding	OTTHUMT00000046834.1	106	0.00	0	A	NM_021980		13174129	13174129	+1	no_errors	ENST00000263036	ensembl	human	known	69_37n	silent	110	14.06	18	SNP	1.000	G
OTOL1	131149	genome.wustl.edu	37	3	161221388	161221388	+	Missense_Mutation	SNP	G	G	T			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr3:161221388G>T	ENST00000327928.4	+	4	1092	c.1092G>T	c.(1090-1092)aaG>aaT	p.K364N		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	364	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AATTTGAAAAGATTCTCTATA	0.463																																						dbGAP											0													55.0	50.0	52.0					3																	161221388		1866	4100	5966	-	-	-	SO:0001583	missense	0				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.1092G>T	3.37:g.161221388G>T	ENSP00000330808:p.Lys364Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.K364N	ENST00000327928.4	37	c.1092	CCDS46948.1	3	.	.	.	.	.	.	.	.	.	.	G	9.115	1.007464	0.19199	.	.	ENSG00000182447	ENST00000327928	D	0.86627	-2.15	5.23	5.23	0.72850	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.187808	0.56097	D	0.000031	D	0.91209	0.7230	M	0.71296	2.17	0.31213	N	0.698411	D	0.67145	0.996	D	0.63793	0.918	D	0.90394	0.4397	10	0.54805	T	0.06	.	10.953	0.47341	0.086:0.0:0.914:0.0	.	364	A6NHN0	OTOL1_HUMAN	N	364	ENSP00000330808:K364N	ENSP00000330808:K364N	K	+	3	2	OTOL1	162704082	1.000000	0.71417	0.336000	0.25522	0.022000	0.10575	1.103000	0.31062	2.427000	0.82271	0.557000	0.71058	AAG	OTOL1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000182447		0.463	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOL1	HGNC	protein_coding	OTTHUMT00000353184.1	57	0.00	0	G	NM_001080440		161221388	161221388	+1	no_errors	ENST00000327928	ensembl	human	known	69_37n	missense	54	14.06	9	SNP	0.976	T
PARP6	56965	genome.wustl.edu	37	15	72546845	72546845	+	Missense_Mutation	SNP	C	C	G			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr15:72546845C>G	ENST00000569795.1	-	15	1829	c.1142G>C	c.(1141-1143)cGg>cCg	p.R381P	PARP6_ENST00000287196.9_Missense_Mutation_p.R381P|PARP6_ENST00000260376.7_Missense_Mutation_p.R381P|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	381							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TTTCTGAAGCCGCTCATAATT	0.448																																						dbGAP											0													91.0	94.0	93.0					15																	72546845		1863	4099	5962	-	-	-	SO:0001583	missense	0			AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1142G>C	15.37:g.72546845C>G	ENSP00000456348:p.Arg381Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.R381P	ENST00000569795.1	37	c.1142	CCDS10241.2	15	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361931	0.82353	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000413097;ENST00000544520	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.78059	0.4224	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.79108	0.915;0.986;0.992	T	0.76495	-0.2938	9	0.41790	T	0.15	-24.1203	18.5132	0.90925	0.0:1.0:0.0:0.0	.	381;381;313	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	P	381;381;381;226;226	.	ENSP00000260376:R381P	R	-	2	0	PARP6	70333899	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.174000	0.77620	2.607000	0.88179	0.563000	0.77884	CGG	PARP6	-	NULL	ENSG00000137817		0.448	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP6	HGNC	protein_coding	OTTHUMT00000257315.2	95	0.00	0	C	NM_020214		72546845	72546845	-1	no_errors	ENST00000287196	ensembl	human	known	69_37n	missense	63	24.10	20	SNP	1.000	G
PICALM	8301	genome.wustl.edu	37	11	85722144	85722144	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr11:85722144C>A	ENST00000393346.3	-	7	842	c.694G>T	c.(694-696)Gaa>Taa	p.E232*	PICALM_ENST00000526033.1_Nonsense_Mutation_p.E232*|PICALM_ENST00000528398.1_Nonsense_Mutation_p.E181*|PICALM_ENST00000356360.5_Nonsense_Mutation_p.E232*|PICALM_ENST00000532317.1_Nonsense_Mutation_p.E232*			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	232	Interaction with FAM64A.				axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TCAAGACCTTCTTTGCATTGG	0.308			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	dbGAP		Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0													121.0	105.0	110.0					11																	85722144		2202	4298	6500	-	-	-	SO:0001587	stop_gained	0			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.694G>T	11.37:g.85722144C>A	ENSP00000377015:p.Glu232*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Nonsense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.E232*	ENST00000393346.3	37	c.694	CCDS8272.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.444709	0.97572	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.7044	19.7112	0.96096	0.0:1.0:0.0:0.0	.	.	.	.	X	232;232;232;232;181;232	.	.	E	-	1	0	PICALM	85399792	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.722000	0.93159	0.655000	0.94253	GAA	PICALM	-	pfam_ANTH	ENSG00000073921		0.308	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PICALM	HGNC	protein_coding	OTTHUMT00000392224.1	151	0.00	0	C	NM_007166		85722144	85722144	-1	no_errors	ENST00000393346	ensembl	human	known	69_37n	nonsense	99	11.61	13	SNP	1.000	A
PIK3CD	5293	genome.wustl.edu	37	1	9781585	9781585	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr1:9781585T>C	ENST00000377346.4	+	15	2090	c.1895T>C	c.(1894-1896)tTc>tCc	p.F632S	PIK3CD_ENST00000536656.1_Missense_Mutation_p.F656S|PIK3CD_ENST00000543390.1_Missense_Mutation_p.F299S|PIK3CD_ENST00000361110.2_Missense_Mutation_p.F656S	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	632	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|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)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CTGACCAAATTCCTGCTGGAC	0.617											OREG0013082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													60.0	60.0	60.0					1																	9781585		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1895T>C	1.37:g.9781585T>C	ENSP00000366563:p.Phe632Ser	Somatic	659	WXS	Illumina GAIIx	Phase_IV	A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-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.F656S	ENST00000377346.4	37	c.1967	CCDS104.1	1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793124	0.70452	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.72	5.72	0.89469	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.89097	0.6618	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.92397	0.5926	10	0.87932	D	0	-38.3413	15.1843	0.72986	0.0:0.0:0.0:1.0	.	631;656;632	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	S	656;632;656;656;299	ENSP00000446444:F656S;ENSP00000366563:F632S;ENSP00000354410:F656S;ENSP00000443811:F299S	ENSP00000353766:F656S	F	+	2	0	PIK3CD	9704172	1.000000	0.71417	0.962000	0.40283	0.007000	0.05969	7.908000	0.87438	2.187000	0.69744	0.528000	0.53228	TTC	PIK3CD	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000171608		0.617	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1	56	0.00	0	T	NM_005026		9781585	9781585	+1	no_errors	ENST00000536656	ensembl	human	known	69_37n	missense	32	20.00	8	SNP	1.000	C
PLEKHA5	54477	genome.wustl.edu	37	12	19460407	19460408	+	Intron	INS	-	-	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr12:19460407_19460408insA	ENST00000299275.6	+	13	1851				PLEKHA5_ENST00000429027.2_Intron|PLEKHA5_ENST00000317589.4_Intron|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000539256.1_Intron|PLEKHA5_ENST00000543806.1_Intron|PLEKHA5_ENST00000355397.3_Intron|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000424268.1_Intron|PLEKHA5_ENST00000538714.1_Intron	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5						reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					actcttggctcaaaaaaaaaTA	0.47																																					Pancreas(196;329 2193 11246 14234 19524)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1846-13088->A	12.37:g.19460416_19460416dupA		Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	RNA	INS	-	NULL	ENST00000299275.6	37	NULL	CCDS8682.1	12																																																																																			PLEKHA5	-	-	ENSG00000052126		0.470	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	19	0.00	0	-	NM_019012		19460407	19460408	+1	no_errors	ENST00000510738	ensembl	human	known	69_37n	rna	9	25.00	3	INS	0.923:0.931	A
PLP1	5354	genome.wustl.edu	37	X	103044308	103044308	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chrX:103044308C>A	ENST00000303958.2	+	6	889	c.743C>A	c.(742-744)gCa>gAa	p.A248E	PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000418604.1_Missense_Mutation_p.A248E|PLP1_ENST00000361621.2_Missense_Mutation_p.A213E	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	248			A -> E (in HLD1). {ECO:0000269|PubMed:10417279}.		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						GTGGGGGCTGCAGCTACACTG	0.443																																						dbGAP											0			GRCh37	HM971396	PLP1	M							234.0	192.0	206.0					X																	103044308		2203	4300	6503	-	-	-	SO:0001583	missense	0			M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.743C>A	X.37:g.103044308C>A	ENSP00000305152:p.Ala248Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP	p.A248E	ENST00000303958.2	37	c.743	CCDS14513.1	X	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218331	0.79464	.	.	ENSG00000123560	ENST00000418604;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D	0.99376	-5.79;-5.79;-5.79	5.6	5.6	0.85130	.	0.046811	0.85682	D	0.000000	D	0.98982	0.9653	L	0.39898	1.24	0.47183	D	0.999346	D;D;D;P	0.76494	0.999;0.999;0.999;0.941	D;D;D;B	0.87578	0.966;0.998;0.998;0.274	D	0.99904	1.1171	10	0.66056	D	0.02	-4.7991	15.8191	0.78626	0.0:1.0:0.0:0.0	.	193;248;248;213	B4DI30;A8K9L3;P60201;P60201-2	.;.;MYPR_HUMAN;.	E	248;248;213;226	ENSP00000405750:A248E;ENSP00000305152:A248E;ENSP00000354860:A213E	ENSP00000305152:A248E	A	+	2	0	PLP1	102930964	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.129000	0.71657	2.334000	0.79466	0.600000	0.82982	GCA	PLP1	-	pfam_Myelin_PLP,prints_Myelin_PLP	ENSG00000123560		0.443	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLP1	HGNC	protein_coding	OTTHUMT00000057743.2	270	0.00	0	C			103044308	103044308	+1	no_errors	ENST00000303958	ensembl	human	known	69_37n	missense	189	11.27	24	SNP	1.000	A
POM121C	100101267	genome.wustl.edu	37	7	75050891	75050891	+	Missense_Mutation	SNP	T	T	C	rs146536842		TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr7:75050891T>C	ENST00000257665.5	-	11	3369	c.3370A>G	c.(3370-3372)Aca>Gca	p.T1124A	POM121C_ENST00000453279.2_Missense_Mutation_p.T882A|POM121C_ENST00000473168.1_5'Flank			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1124	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						AAGCCCCCTGTGAAGGGGGTG	0.622																																						dbGAP											0													34.0	44.0	41.0					7																	75050891		2199	4298	6497	-	-	-	SO:0001583	missense	0				CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.3370A>G	7.37:g.75050891T>C	ENSP00000257665:p.Thr1124Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	NULL	p.T1124A	ENST00000257665.5	37	c.3370		7	127	0.05815018315018315	31	0.06300813008130081	11	0.03038674033149171	32	0.055944055944055944	53	0.06992084432717678	C	0.072	-1.200397	0.01581	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.15952	3.87;2.38	3.28	1.19	0.21007	.	0.612911	0.13403	N	0.390466	T	0.00637	0.0021	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38845	-0.9642	9	0.21014	T	0.42	.	7.0748	0.25199	0.0:0.7215:0.1649:0.1136	.	1124	A8CG34	P121C_HUMAN	A	1124;882	ENSP00000257665:T1124A;ENSP00000414208:T882A	ENSP00000257665:T1124A	T	-	1	0	POM121C	74888827	0.019000	0.18553	0.000000	0.03702	0.028000	0.11728	0.619000	0.24388	0.074000	0.16767	-2.594000	0.00164	ACA	POM121C	-	NULL	ENSG00000135213		0.622	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	POM121C	HGNC	protein_coding	OTTHUMT00000343919.2	34	0.00	0	T	NM_001099415		75050891	75050891	-1	no_errors	ENST00000257665	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	0.001	C
UPK3BL	100134938	genome.wustl.edu	37	7	102182021	102182021	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr7:102182021C>A	ENST00000514917.2	-	7	837	c.838G>T	c.(838-840)Gcc>Tcc	p.A280S	POLR2J3_ENST00000379357.5_Missense_Mutation_p.Q67H|RP11-514P8.8_ENST00000481893.1_RNA																							GGCCTAGAGGCTGCTCCAGCG	0.627																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0																														ENST00000514917.2:c.838G>T	7.37:g.102182021C>A	ENSP00000423309:p.Ala280Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.Q67H	ENST00000514917.2	37	c.201		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.96|14.96	2.692610|2.692610	0.48202|0.48202	.|.	.|.	ENSG00000168255|ENSG00000168255	ENST00000514917|ENST00000379357;ENST00000513506	.|T	.|0.71341	.|-0.56	3.74|3.74	2.83|2.83	0.33086|0.33086	.|.	.|.	.|.	.|.	.|.	T|T	0.80518|0.80518	0.4638|0.4638	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.73380	.|0.971;0.98	T|T	0.79155|0.79155	-0.1920|-0.1920	5|8	0.38643|0.87932	T|D	0.18|0	-2.4528|-2.4528	6.7444|6.7444	0.23453|0.23453	0.0:0.8576:0.0:0.1424|0.0:0.8576:0.0:0.1424	.|.	.|67;67	.|B0FP48;E5RIL1	.|UPK3L_HUMAN;.	S|H	280|67;157	.|ENSP00000368662:Q67H	ENSP00000419146:A106S|ENSP00000368662:Q67H	A|Q	-|-	1|3	0|2	POLR2J3|POLR2J3	101969026|101969026	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.730000|0.730000	0.41778|0.41778	0.973000|0.973000	0.29422|0.29422	0.675000|0.675000	0.31264|0.31264	0.544000|0.544000	0.68410|0.68410	GCC|CAG	POLR2J3	-	NULL	ENSG00000168255		0.627	RP11-514P8.7-001	PUTATIVE	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal|readthrough_transcript	protein_coding	POLR2J3	HGNC	protein_coding	OTTHUMT00000469674.1	17	0.00	0	C			102182021	102182021	-1	no_errors	ENST00000379357	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	1.000	A
PQBP1	10084	genome.wustl.edu	37	X	48759291	48759291	+	Silent	SNP	G	G	C	rs398124212		TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chrX:48759291G>C	ENST00000376563.1	+	4	464	c.264G>C	c.(262-264)tcG>tcC	p.S88S	PQBP1_ENST00000218224.4_Silent_p.S88S|PQBP1_ENST00000447146.2_Silent_p.S88S|PQBP1_ENST00000247140.4_Silent_p.S88S|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000396763.1_Silent_p.S88S|PQBP1_ENST00000376566.4_Silent_p.S88S	NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1	NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	88					alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						TTACCAAATCGGCCAAGAAGC	0.542																																						dbGAP											0													107.0	83.0	91.0					X																	48759291		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"""Sutherland-Haan X-linked mental retardation syndrome"", ""mental retardation, X-linked 55"", ""mental retardation, X-linked 2 (non-dysmorphic)"""	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	ENST00000376563.1:c.264G>C	X.37:g.48759291G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.R77P	ENST00000376563.1	37	c.230	CCDS14309.1	X	.	.	.	.	.	.	.	.	.	.	G	9.249	1.040152	0.19669	.	.	ENSG00000102103	ENST00000456306	.	.	.	5.77	1.63	0.23807	.	.	.	.	.	T	0.42381	0.1200	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25328	-1.0135	4	.	.	.	-18.1333	1.047	0.01571	0.2729:0.1031:0.139:0.485	.	.	.	.	P	77	.	.	R	+	2	0	PQBP1	48644235	0.173000	0.23056	1.000000	0.80357	0.913000	0.54294	-0.794000	0.04584	0.260000	0.21731	-0.328000	0.08392	CGG	PQBP1	-	NULL	ENSG00000102103		0.542	PQBP1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	PQBP1	HGNC	protein_coding	OTTHUMT00000060777.1	66	0.00	0	G	NM_001032381.1		48759291	48759291	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000456306	ensembl	human	known	69_37n	missense	59	18.92	14	SNP	0.999	C
PRTG	283659	genome.wustl.edu	37	15	55912380	55912380	+	Missense_Mutation	SNP	G	G	T	rs202082038		TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr15:55912380G>T	ENST00000389286.4	-	20	3330	c.3283C>A	c.(3283-3285)Cca>Aca	p.P1095T		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GTCTGACCTGGGGAGCTAGGG	0.488																																						dbGAP											0													106.0	104.0	105.0					15																	55912380		1892	4110	6002	-	-	-	SO:0001583	missense	0			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3283C>A	15.37:g.55912380G>T	ENSP00000373937:p.Pro1095Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P1095T	ENST00000389286.4	37	c.3283	CCDS42040.1	15	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977089	0.53720	.	.	ENSG00000166450	ENST00000389286	T	0.57107	0.42	5.84	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.64997	1.995	0.80722	D	1	P	0.43094	0.799	B	0.40901	0.343	T	0.61657	-0.7018	10	0.87932	D	0	-8.8617	16.237	0.82381	0.0:0.1327:0.8673:0.0	.	1095	Q2VWP7	PRTG_HUMAN	T	1095	ENSP00000373937:P1095T	ENSP00000373937:P1095T	P	-	1	0	PRTG	53699672	1.000000	0.71417	0.991000	0.47740	0.843000	0.47879	3.426000	0.52778	1.475000	0.48197	0.650000	0.86243	CCA	PRTG	-	NULL	ENSG00000166450		0.488	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1	79	0.00	0	G	NM_173814		55912380	55912380	-1	no_errors	ENST00000389286	ensembl	human	known	69_37n	missense	50	18.03	11	SNP	1.000	T
PTPRK	5796	genome.wustl.edu	37	6	128404925	128404925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr6:128404925C>A	ENST00000368215.3	-	9	1509	c.1510G>T	c.(1510-1512)Gaa>Taa	p.E504*	PTPRK_ENST00000368226.4_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.E504*|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368227.3_Nonsense_Mutation_p.E504*|RP11-103C16.2_ENST00000417390.1_RNA			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	504	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCTTATTTTCAAAGGATGTT	0.348																																						dbGAP											0													104.0	103.0	103.0					6																	128404925		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1510G>T	6.37:g.128404925C>A	ENSP00000357198:p.Glu504*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.E504*	ENST00000368215.3	37	c.1510		6	.	.	.	.	.	.	.	.	.	.	C	39	7.548767	0.98352	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	.	.	.	6.02	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	16.7022	0.85357	0.1306:0.8694:0.0:0.0	.	.	.	.	X	504;504;504;504;504;504;504;361	.	ENSP00000357190:E504X	E	-	1	0	PTPRK	128446618	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.625000	0.83145	1.527000	0.49086	-0.188000	0.12872	GAA	PTPRK	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000152894		0.348	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	100	0.00	0	C			128404925	128404925	-1	no_errors	ENST00000368227	ensembl	human	known	69_37n	nonsense	81	10.00	9	SNP	1.000	A
PXK	54899	genome.wustl.edu	37	3	58368396	58368396	+	Missense_Mutation	SNP	A	A	C			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr3:58368396A>C	ENST00000356151.2	+	4	466	c.357A>C	c.(355-357)ttA>ttC	p.L119F	PXK_ENST00000383716.3_Missense_Mutation_p.L86F|PXK_ENST00000302779.5_Missense_Mutation_p.L102F|PXK_ENST00000463280.1_Missense_Mutation_p.L86F|PXK_ENST00000484288.1_Missense_Mutation_p.L119F|PXK_ENST00000536660.1_Intron|PXK_ENST00000383715.4_Missense_Mutation_p.L102F|PXK_ENST00000479241.1_Missense_Mutation_p.L102F	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AGAAGTTTTTAGATCCAAACA	0.398																																						dbGAP											0													112.0	100.0	104.0					3																	58368396		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.357A>C	3.37:g.58368396A>C	ENSP00000348472:p.Leu119Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Phox,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_cat_dom	p.L119F	ENST00000356151.2	37	c.357	CCDS2889.1	3	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593144	0.46214	.	.	ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000491164	T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.57	4.36	0.52297	Phox homologous domain (5);Protein kinase, catalytic domain (1);	0.068822	0.52532	D	0.000063	T	0.54983	0.1892	M	0.64630	1.985	0.80722	D	1	B;P;P;B;B;B	0.37781	0.235;0.608;0.604;0.281;0.197;0.197	B;B;B;B;B;B	0.38954	0.137;0.244;0.286;0.246;0.062;0.084	T	0.55835	-0.8078	10	0.35671	T	0.21	-9.3437	5.23	0.15416	0.5522:0.3413:0.1065:0.0	.	86;86;86;119;102;119	E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.;.;.;PXK_HUMAN;.;.	F	119;102;86;86;102;119;102;110	ENSP00000348472:L119F;ENSP00000305045:L102F;ENSP00000373222:L86F;ENSP00000417903:L86F;ENSP00000373221:L102F;ENSP00000417915:L119F;ENSP00000419049:L102F;ENSP00000418831:L110F	ENSP00000305045:L102F	L	+	3	2	PXK	58343436	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.130000	0.31393	2.102000	0.63906	0.533000	0.62120	TTA	PXK	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox,pfscan_Prot_kinase_cat_dom	ENSG00000168297		0.398	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXK	HGNC	protein_coding	OTTHUMT00000353499.1	61	0.00	0	A	NM_017771		58368396	58368396	+1	no_errors	ENST00000356151	ensembl	human	known	69_37n	missense	44	21.43	12	SNP	0.999	C
RD3	343035	genome.wustl.edu	37	1	211652657	211652657	+	Silent	SNP	C	C	T			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr1:211652657C>T	ENST00000367002.4	-	3	1472	c.309G>A	c.(307-309)ctG>ctA	p.L103L	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	103					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GCTCCGCCAGCAGCTGCCGGA	0.697																																						dbGAP											0													7.0	9.0	8.0					1																	211652657		2132	4223	6355	-	-	-	SO:0001819	synonymous_variant	0			AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"""chromosome 1 open reading frame 36"""	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.309G>A	1.37:g.211652657C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K595	Silent	SNP	NULL	p.L103	ENST00000367002.4	37	c.309	CCDS1498.1	1																																																																																			RD3	-	NULL	ENSG00000198570		0.697	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RD3	HGNC	protein_coding	OTTHUMT00000089837.1	20	0.00	0	C	NM_183059		211652657	211652657	-1	no_errors	ENST00000367002	ensembl	human	known	69_37n	silent	18	18.18	4	SNP	0.207	T
RNF111	54778	genome.wustl.edu	37	15	59323149	59323149	+	Missense_Mutation	SNP	T	T	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr15:59323149T>A	ENST00000557998.1	+	2	415	c.128T>A	c.(127-129)aTt>aAt	p.I43N	RNF111_ENST00000559209.1_Missense_Mutation_p.I43N|RNF111_ENST00000348370.4_Missense_Mutation_p.I43N|RNF111_ENST00000561186.1_Missense_Mutation_p.I43N|RNF111_ENST00000434298.1_Missense_Mutation_p.I43N	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	43					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CCAGAGCCCATTGGGGCAGCC	0.438																																					NSCLC(72;983 1365 10746 34387 47081)	dbGAP											0													69.0	70.0	69.0					15																	59323149		2192	4292	6484	-	-	-	SO:0001583	missense	0			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.128T>A	15.37:g.59323149T>A	ENSP00000452732:p.Ile43Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.I43N	ENST00000557998.1	37	c.128	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222932	0.79464	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.17854	2.25;2.26	5.57	5.57	0.84162	.	0.268845	0.41294	D	0.000905	T	0.21468	0.0517	L	0.44542	1.39	0.45515	D	0.998478	P;P;P	0.42649	0.786;0.681;0.786	B;B;B	0.44085	0.44;0.17;0.319	T	0.00964	-1.1498	10	0.87932	D	0	-11.4874	14.915	0.70789	0.0:0.0:0.0:1.0	.	43;43;43	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	N	43	ENSP00000288199:I43N;ENSP00000393641:I43N	ENSP00000288199:I43N	I	+	2	0	RNF111	57110441	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.603000	0.67619	2.114000	0.64651	0.397000	0.26171	ATT	RNF111	-	NULL	ENSG00000157450		0.438	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	69	0.00	0	T	NM_017610		59323149	59323149	+1	no_errors	ENST00000434298	ensembl	human	known	69_37n	missense	47	20.34	12	SNP	1.000	A
RNF20	56254	genome.wustl.edu	37	9	104315014	104315014	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr9:104315014A>G	ENST00000389120.3	+	13	1970	c.1880A>G	c.(1879-1881)aAa>aGa	p.K627R	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	627					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GAAATTATCAAACAATTGAAG	0.353																																						dbGAP											0													60.0	64.0	63.0					9																	104315014		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1880A>G	9.37:g.104315014A>G	ENSP00000373772:p.Lys627Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.K627R	ENST00000389120.3	37	c.1880	CCDS35084.1	9	.	.	.	.	.	.	.	.	.	.	A	13.61	2.288773	0.40494	.	.	ENSG00000155827	ENST00000389120	T	0.33865	1.39	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	L	0.31804	0.96	0.58432	D	0.999999	D	0.69078	0.997	D	0.73380	0.98	T	0.27872	-1.0061	10	0.21014	T	0.42	-25.0375	16.4837	0.84171	1.0:0.0:0.0:0.0	.	627	Q5VTR2	BRE1A_HUMAN	R	627	ENSP00000373772:K627R	ENSP00000373772:K627R	K	+	2	0	RNF20	103354835	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	7.611000	0.82962	2.371000	0.80710	0.533000	0.62120	AAA	RNF20	-	NULL	ENSG00000155827		0.353	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF20	HGNC	protein_coding	OTTHUMT00000356402.1	40	0.00	0	A	NM_019592		104315014	104315014	+1	no_errors	ENST00000389120	ensembl	human	known	69_37n	missense	27	34.15	14	SNP	1.000	G
RPGR	6103	genome.wustl.edu	37	X	38145826	38145826	+	Intron	SNP	T	T	C			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chrX:38145826T>C	ENST00000339363.3	-	14	2688				TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000378505.2_Missense_Mutation_p.E809G|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ccctccctcctctttttcctc	0.582																																						dbGAP											0													189.0	139.0	156.0					X																	38145826		1800	3445	5245	-	-	-	SO:0001627	intron_variant	0			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+520A>G	X.37:g.38145826T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E809G	ENST00000339363.3	37	c.2426		X	.	.	.	.	.	.	.	.	.	.	t	1.472	-0.559615	0.03967	.	.	ENSG00000156313	ENST00000378505	T	0.02552	4.25	.	.	.	.	0.486110	0.15933	U	0.237550	T	0.03053	0.0090	L	0.38531	1.155	0.19575	N	0.999961	P	0.39094	0.659	B	0.42959	0.403	T	0.45906	-0.9229	8	0.25751	T	0.34	.	.	.	.	.	809	E9PE28	.	G	809	ENSP00000367766:E809G	ENSP00000367766:E809G	E	-	2	0	RPGR	38030770	0.000000	0.05858	0.026000	0.17262	0.128000	0.20619	0.084000	0.14891	0.276000	0.22118	0.270000	0.19313	GAG	RPGR	-	NULL	ENSG00000156313		0.582	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		225	0.44	1	T	NM_000328		38145826	38145826	-1	no_errors	ENST00000378505	ensembl	human	known	69_37n	missense	288	11.93	39	SNP	0.349	C
SCAF11	9169	genome.wustl.edu	37	12	46320764	46320764	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr12:46320764G>A	ENST00000369367.3	-	11	2953	c.2720C>T	c.(2719-2721)tCc>tTc	p.S907F	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000549162.1_Missense_Mutation_p.S715F|SCAF11_ENST00000419565.2_Missense_Mutation_p.S907F|SCAF11_ENST00000465950.1_Missense_Mutation_p.S592F	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	907	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CTGGGACCTGGATTTTTCTCC	0.458																																						dbGAP											0													119.0	126.0	123.0					12																	46320764		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2720C>T	12.37:g.46320764G>A	ENSP00000358374:p.Ser907Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.S907F	ENST00000369367.3	37	c.2720	CCDS8748.2	12	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405413	0.62288	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.61392	0.61;1.33;0.61;1.33;0.11	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000003	T	0.76219	0.3957	M	0.74881	2.28	0.44424	D	0.997345	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.972	T	0.77531	-0.2553	10	0.72032	D	0.01	-8.5344	16.5813	0.84715	0.0:0.13:0.87:0.0	.	715;907	F8VXG7;Q99590	.;SCAFB_HUMAN	F	592;907;715;907;847	ENSP00000449812:S592F;ENSP00000358374:S907F;ENSP00000448864:S715F;ENSP00000413036:S907F;ENSP00000446746:S847F	ENSP00000358374:S907F	S	-	2	0	SCAF11	44607031	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.534000	0.73833	2.826000	0.97356	0.655000	0.94253	TCC	SCAF11	-	NULL	ENSG00000139218		0.458	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2	44	0.00	0	G	NM_004719		46320764	46320764	-1	no_errors	ENST00000369367	ensembl	human	known	69_37n	missense	47	25.40	16	SNP	1.000	A
SMAD1	4086	genome.wustl.edu	37	4	146467997	146467997	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr4:146467997G>C	ENST00000515385.1	+	5	1460	c.918G>C	c.(916-918)aaG>aaC	p.K306N	SMAD1_ENST00000394092.2_Missense_Mutation_p.K306N|SMAD1_ENST00000302085.4_Missense_Mutation_p.K306N			Q15797	SMAD1_HUMAN	SMAD family member 1	306	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|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)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CCAACAATAAGAACCGTTTCT	0.458																																					Pancreas(182;1287 2092 10326 35158 50562)	dbGAP											0													149.0	137.0	141.0					4																	146467997		2203	4300	6503	-	-	-	SO:0001583	missense	0			U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.918G>C	4.37:g.146467997G>C	ENSP00000426568:p.Lys306Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Missense_Mutation	SNP	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.K306N	ENST00000515385.1	37	c.918	CCDS3765.1	4	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604396	0.46423	.	.	ENSG00000170365	ENST00000302085;ENST00000394092;ENST00000515385	D;D;D	0.96992	-4.2;-4.2;-4.2	5.96	5.96	0.96718	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.088734	0.64402	N	0.000001	D	0.90113	0.6911	N	0.04203	-0.255	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	D	0.85340	0.1095	10	0.36615	T	0.2	.	15.5237	0.75885	0.0678:0.0:0.9322:0.0	.	306	Q15797	SMAD1_HUMAN	N	306	ENSP00000305769:K306N;ENSP00000377652:K306N;ENSP00000426568:K306N	ENSP00000305769:K306N	K	+	3	2	SMAD1	146687447	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.130000	0.50508	2.830000	0.97506	0.585000	0.79938	AAG	SMAD1	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000170365		0.458	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD1	HGNC	protein_coding	OTTHUMT00000365467.1	69	0.00	0	G	NM_005900		146467997	146467997	+1	no_errors	ENST00000302085	ensembl	human	known	69_37n	missense	64	14.67	11	SNP	1.000	C
TAF6	6878	genome.wustl.edu	37	7	99711749	99711749	+	Silent	SNP	G	G	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr7:99711749G>A	ENST00000344095.4	-	2	609	c.84C>T	c.(82-84)atC>atT	p.I28I	TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000472509.1_Silent_p.I85I|TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000452041.1_Silent_p.I28I|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000437822.2_Silent_p.I65I|TAF6_ENST00000453269.2_Silent_p.I28I	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	28					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATCTGGGCGATGCCCATGG	0.567																																						dbGAP											0													146.0	132.0	137.0					7																	99711749		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.84C>T	7.37:g.99711749G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Silent	SNP	pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd	p.I28	ENST00000344095.4	37	c.84	CCDS5686.1	7																																																																																			TAF6	-	pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_TAF_TATA-bd	ENSG00000106290		0.567	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6	HGNC	protein_coding	OTTHUMT00000337024.2	87	0.00	0	G	NM_005641		99711749	99711749	-1	no_errors	ENST00000344095	ensembl	human	known	69_37n	silent	51	16.39	10	SNP	0.965	A
TAT	6898	genome.wustl.edu	37	16	71610261	71610261	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr16:71610261C>T	ENST00000355962.4	-	2	191	c.58G>A	c.(58-60)Gtg>Atg	p.V20M	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	20					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	TTGACATGCACGTCCAGAATT	0.517																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	dbGAP											0													115.0	113.0	114.0					16																	71610261		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.58G>A	16.37:g.71610261C>T	ENSP00000348234:p.Val20Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8I1|D3DWS2	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,prints_ACC_synthase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase	p.V20M	ENST00000355962.4	37	c.58	CCDS10903.1	16	.	.	.	.	.	.	.	.	.	.	C	6.489	0.458409	0.12342	.	.	ENSG00000198650	ENST00000355962	T	0.81415	-1.49	6.07	0.94	0.19513	Tyrosine aminotransferase ubiquitination region (1);	0.662716	0.16428	N	0.214876	T	0.64091	0.2567	N	0.19112	0.55	0.19775	N	0.999958	B;B;B	0.28419	0.211;0.077;0.077	B;B;B	0.27608	0.081;0.033;0.022	T	0.53436	-0.8439	10	0.48119	T	0.1	-8.864	7.0743	0.25195	0.1046:0.6046:0.0:0.2908	.	20;20;20	Q8WW92;A1L4G7;P17735	.;.;ATTY_HUMAN	M	20	ENSP00000348234:V20M	ENSP00000348234:V20M	V	-	1	0	TAT	70167762	0.998000	0.40836	0.008000	0.14137	0.002000	0.02628	0.561000	0.23515	-0.021000	0.14009	-1.665000	0.00749	GTG	TAT	-	pfam_Tyr_aminoTrfase_ubiquitination,pirsf_Tyrosine_transaminase	ENSG00000198650		0.517	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAT	HGNC	protein_coding	OTTHUMT00000268989.1	139	0.00	0	C			71610261	71610261	-1	no_errors	ENST00000355962	ensembl	human	known	69_37n	missense	85	17.48	18	SNP	0.373	T
TBC1D2	55357	genome.wustl.edu	37	9	101006381	101006381	+	Missense_Mutation	SNP	A	A	T			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr9:101006381A>T	ENST00000375064.1	-	3	580	c.542T>A	c.(541-543)cTg>cAg	p.L181Q	TBC1D2_ENST00000375066.5_Missense_Mutation_p.L181Q|TBC1D2_ENST00000342112.5_5'UTR	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	181					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CACAGGGCACAGGAACTCCTC	0.567																																						dbGAP											0													38.0	34.0	36.0					9																	101006381		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.542T>A	9.37:g.101006381A>T	ENSP00000364205:p.Leu181Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.L181Q	ENST00000375064.1	37	c.542		9	.	.	.	.	.	.	.	.	.	.	A	17.02	3.282739	0.59867	.	.	ENSG00000095383	ENST00000375064;ENST00000375066	T;T	0.10288	3.19;2.89	4.93	3.71	0.42584	.	0.411868	0.19028	N	0.124637	T	0.26304	0.0642	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.95;0.977	T	0.00837	-1.1546	10	0.52906	T	0.07	.	8.0521	0.30583	0.7939:0.2061:0.0:0.0	.	181;181	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	Q	181	ENSP00000364205:L181Q;ENSP00000364207:L181Q	ENSP00000364205:L181Q	L	-	2	0	TBC1D2	100046202	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.060000	0.49955	1.851000	0.53745	0.533000	0.62120	CTG	TBC1D2	-	NULL	ENSG00000095383		0.567	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	TBC1D2	HGNC	protein_coding	OTTHUMT00000053366.1	38	0.00	0	A	NM_018421		101006381	101006381	-1	no_errors	ENST00000375066	ensembl	human	known	69_37n	missense	17	37.04	10	SNP	1.000	T
TBC1D13	54662	genome.wustl.edu	37	9	131568232	131568232	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr9:131568232G>C	ENST00000372648.5	+	10	1163	c.1013G>C	c.(1012-1014)tGg>tCg	p.W338S	TBC1D13_ENST00000539497.1_Missense_Mutation_p.W157S|TBC1D13_ENST00000223865.8_Missense_Mutation_p.W213S	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	338	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						ATCCGCATCTGGGACTCCCTC	0.582																																						dbGAP											0													119.0	80.0	93.0					9																	131568232		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.1013G>C	9.37:g.131568232G>C	ENSP00000361731:p.Trp338Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.W338S	ENST00000372648.5	37	c.1013	CCDS6911.1	9	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903187	0.92035	.	.	ENSG00000107021	ENST00000372648;ENST00000539497;ENST00000223865	T;T;T	0.62232	0.04;0.04;0.04	5.09	5.09	0.68999	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	D	0.88738	0.6518	H	0.99368	4.535	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.994;1.0	D	0.93518	0.6859	10	0.87932	D	0	-17.8722	17.6637	0.88198	0.0:0.0:1.0:0.0	.	213;338	Q9NVG8-2;Q9NVG8	.;TBC13_HUMAN	S	338;157;213	ENSP00000361731:W338S;ENSP00000437751:W157S;ENSP00000223865:W213S	ENSP00000223865:W213S	W	+	2	0	TBC1D13	130608053	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.530000	0.98051	2.656000	0.90262	0.561000	0.74099	TGG	TBC1D13	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000107021		0.582	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D13	HGNC	protein_coding	OTTHUMT00000054496.1	46	0.00	0	G	NM_018201		131568232	131568232	+1	no_errors	ENST00000372648	ensembl	human	known	69_37n	missense	39	22.00	11	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	G	rs121912666		TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr17:7578190T>G	ENST00000269305.4	-	6	848	c.659A>C	c.(658-660)tAt>tCt	p.Y220S	TP53_ENST00000420246.2_Missense_Mutation_p.Y220S|TP53_ENST00000445888.2_Missense_Mutation_p.Y220S|TP53_ENST00000359597.4_Missense_Mutation_p.Y220S|TP53_ENST00000413465.2_Missense_Mutation_p.Y220S|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220S	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102.0	94.0	97.0					17																	7578190		2203	4300	6503	-	-	-	SO:0001583	missense	0	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.659A>C	17.37:g.7578190T>G	ENSP00000269305:p.Tyr220Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y220S	ENST00000269305.4	37	c.659	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	23.7	4.447753	0.84101	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.28	5.28	0.74379	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	0.99822	0.9921	M	0.89287	3.02	0.80722	A	1	D;D;D;D;D;D;D	0.89917	1.0;0.994;0.997;1.0;0.995;0.968;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.921;0.963;1.0;0.977;0.926;1.0	D	0.96735	0.9542	9	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220S;ENSP00000352610:Y220S;ENSP00000269305:Y220S;ENSP00000398846:Y220S;ENSP00000391127:Y220S;ENSP00000391478:Y220S;ENSP00000425104:Y88S;ENSP00000423862:Y127S	ENSP00000269305:Y220S	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	162	0.61	1	T	NM_000546		7578190	7578190	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	91	12.50	13	SNP	0.998	G
TP53	7157	genome.wustl.edu	37	17	7579414	7579414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr17:7579414C>T	ENST00000269305.4	-	4	462	c.273G>A	c.(271-273)tgG>tgA	p.W91*	TP53_ENST00000420246.2_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*	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	91	Interaction with WWOX.		W -> C (in a sporadic cancer; somatic mutation).		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.W91*(13)|p.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P92fs*57(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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)	ATGACAGGGGCCAGGAGGGGG	0.627		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)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	33	Substitution - Nonsense(13)|Deletion - Frameshift(11)|Whole gene deletion(8)|Insertion - Frameshift(1)	lung(10)|upper_aerodigestive_tract(6)|breast(4)|bone(4)|central_nervous_system(2)|urinary_tract(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)|prostate(1)|liver(1)	GRCh37	CM065495	TP53	M							44.0	50.0	48.0					17																	7579414		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	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.273G>A	17.37:g.7579414C>T	ENSP00000269305:p.Trp91*	Somatic		WXS	Illumina GAIIx	Phase_IV	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	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.W91*	ENST00000269305.4	37	c.273	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552604	0.86127	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.62	4.62	0.57501	.	0.425160	0.22616	N	0.057766	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.1711	8.8476	0.35179	0.0:0.8991:0.0:0.1009	.	.	.	.	X	91	.	ENSP00000269305:W91X	W	-	3	0	TP53	7520139	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	1.567000	0.36407	2.561000	0.86390	0.561000	0.74099	TGG	TP53	-	NULL	ENSG00000141510		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	35	0.00	0	C	NM_000546		7579414	7579414	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	26	27.78	10	SNP	1.000	T
TPM2	7169	genome.wustl.edu	37	9	35689719	35689719	+	Silent	SNP	A	A	G			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr9:35689719A>G	ENST00000360958.2	-	1	200	c.96T>C	c.(94-96)gcT>gcC	p.A32A	TPM2_ENST00000378300.5_Silent_p.A32A|TPM2_ENST00000378292.3_Silent_p.A32A|TPM2_ENST00000329305.2_Silent_p.A32A	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	32					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCGGTCCTCAGCTTGCTTCT	0.667																																						dbGAP											0													149.0	144.0	146.0					9																	35689719		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.96T>C	9.37:g.35689719A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Silent	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.A32	ENST00000360958.2	37	c.96	CCDS6587.1	9																																																																																			TPM2	-	NULL	ENSG00000198467		0.667	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM2	HGNC	protein_coding	OTTHUMT00000052376.1	100	0.00	0	A	NM_003289		35689719	35689719	-1	no_errors	ENST00000378300	ensembl	human	known	69_37n	silent	67	19.28	16	SNP	0.910	G
TRAF6	7189	genome.wustl.edu	37	11	36518707	36518707	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr11:36518707T>C	ENST00000526995.1	-	4	803	c.557A>G	c.(556-558)cAg>cGg	p.Q186R	TRAF6_ENST00000348124.5_Missense_Mutation_p.Q186R|TRAF6_ENST00000529150.1_5'Flank	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	186	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				ACAAGAAACCTGTCTCCTTGG	0.378																																						dbGAP											0													87.0	87.0	87.0					11																	36518707		2202	4298	6500	-	-	-	SO:0001583	missense	0				CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.557A>G	11.37:g.36518707T>C	ENSP00000433623:p.Gln186Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.Q186R	ENST00000526995.1	37	c.557	CCDS7901.1	11	.	.	.	.	.	.	.	.	.	.	T	11.03	1.519002	0.27211	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.28666	1.6;1.6	5.49	5.49	0.81192	Zinc finger, TRAF-type (1);TRAF-like (1);	0.178535	0.51477	D	0.000086	T	0.27933	0.0688	L	0.48642	1.525	0.44395	D	0.997301	B	0.06786	0.001	B	0.06405	0.002	T	0.07654	-1.0761	10	0.15066	T	0.55	-18.5582	15.6046	0.76652	0.0:0.0:0.0:1.0	.	186	Q9Y4K3	TRAF6_HUMAN	R	186	ENSP00000433623:Q186R;ENSP00000337853:Q186R	ENSP00000337853:Q186R	Q	-	2	0	TRAF6	36475283	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.465000	0.60141	2.089000	0.63090	0.528000	0.53228	CAG	TRAF6	-	superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF	ENSG00000175104		0.378	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF6	HGNC	protein_coding	OTTHUMT00000389530.1	77	0.00	0	T	NM_145803		36518707	36518707	-1	no_errors	ENST00000348124	ensembl	human	known	69_37n	missense	61	33.70	31	SNP	1.000	C
TRPV2	51393	genome.wustl.edu	37	17	16326827	16326827	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr17:16326827G>A	ENST00000338560.7	+	5	1069	c.670G>A	c.(670-672)Gtg>Atg	p.V224M	TRPV2_ENST00000577397.1_Intron	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	224	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GCAGTGGGATGTGGTAAGCTA	0.612																																						dbGAP											0													56.0	51.0	53.0					17																	16326827		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.670G>A	17.37:g.16326827G>A	ENSP00000342222:p.Val224Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.V224M	ENST00000338560.7	37	c.670	CCDS32576.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.39|15.39	2.820120|2.820120	0.50633|0.50633	.|.	.|.	ENSG00000187688|ENSG00000187688	ENST00000455666|ENST00000338560	.|T	.|0.66460	.|-0.21	6.17|6.17	2.72|2.72	0.32119|0.32119	.|Ankyrin repeat-containing domain (4);	.|0.374791	.|0.33057	.|N	.|0.005328	T|T	0.48909|0.48909	0.1526|0.1526	N|N	0.26130|0.26130	0.795|0.795	0.80722|0.80722	D|D	1|1	.|P	.|0.44195	.|0.828	.|B	.|0.38194	.|0.267	T|T	0.47522|0.47522	-0.9111|-0.9111	5|10	.|0.44086	.|T	.|0.13	-20.0732|-20.0732	9.8405|9.8405	0.40996|0.40996	0.3503:0.0:0.6497:0.0|0.3503:0.0:0.6497:0.0	.|.	.|224	.|Q9Y5S1	.|TRPV2_HUMAN	Y|M	181|224	.|ENSP00000342222:V224M	.|ENSP00000342222:V224M	C|V	+|+	2|1	0|0	TRPV2|TRPV2	16267552|16267552	0.059000|0.059000	0.20769|0.20769	0.993000|0.993000	0.49108|0.49108	0.972000|0.972000	0.66771|0.66771	0.448000|0.448000	0.21726|0.21726	0.940000|0.940000	0.37473|0.37473	0.655000|0.655000	0.94253|0.94253	TGT|GTG	TRPV2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	ENSG00000187688		0.612	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV2	HGNC	protein_coding	OTTHUMT00000130464.2	38	0.00	0	G	NM_016113		16326827	16326827	+1	no_errors	ENST00000338560	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	0.978	A
WDR87	83889	genome.wustl.edu	37	19	38380815	38380815	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr19:38380815C>T	ENST00000303868.5	-	6	3603	c.3379G>A	c.(3379-3381)Gca>Aca	p.A1127T	WDR87_ENST00000447313.2_Missense_Mutation_p.A1166T	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1127										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						TCAATTGGTGCGGCCTCAGTC	0.458																																						dbGAP											0													45.0	32.0	36.0					19																	38380815		692	1591	2283	-	-	-	SO:0001583	missense	0			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.3379G>A	19.37:g.38380815C>T	ENSP00000368025:p.Ala1127Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1166T	ENST00000303868.5	37	c.3496	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	C	7.460	0.644483	0.14451	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.09911	2.93;2.93	3.99	-0.937	0.10415	.	0.824482	0.10089	N	0.717379	T	0.09291	0.0229	L	0.57536	1.79	0.09310	N	1	B;B	0.21147	0.052;0.052	B;B	0.11329	0.006;0.006	T	0.40961	-0.9535	10	0.21014	T	0.42	0.0677	4.2743	0.10800	0.0:0.4426:0.1652:0.3922	.	1127;1166	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	T	1166;1127	ENSP00000405012:A1166T;ENSP00000368025:A1127T	ENSP00000368025:A1127T	A	-	1	0	WDR87	43072655	0.000000	0.05858	0.015000	0.15790	0.018000	0.09664	0.048000	0.14078	-0.134000	0.11516	-0.556000	0.04195	GCA	WDR87	-	superfamily_ARM-type_fold	ENSG00000171804		0.458	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	72	0.00	0	C	XM_940478		38380815	38380815	-1	no_errors	ENST00000447313	ensembl	human	known	69_37n	missense	45	23.73	14	SNP	0.037	T
WNK3	65267	genome.wustl.edu	37	X	54259337	54259337	+	Missense_Mutation	SNP	G	G	C			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chrX:54259337G>C	ENST00000375159.2	-	20	4744	c.4745C>G	c.(4744-4746)cCa>cGa	p.P1582R	WNK3_ENST00000375169.3_Missense_Mutation_p.P1535R|WNK3_ENST00000354646.2_Missense_Mutation_p.P1582R			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1582					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGATGCAGGTGGCAAAGGAAT	0.463																																						dbGAP											0													160.0	142.0	148.0					X																	54259337		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4745C>G	X.37:g.54259337G>C	ENSP00000364301:p.Pro1582Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P1582R	ENST00000375159.2	37	c.4745	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090604	0.36855	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.72051	-0.58;-0.62;-0.62	5.69	1.54	0.23209	.	0.542193	0.16723	N	0.202180	T	0.60064	0.2240	L	0.51422	1.61	0.28418	N	0.917877	B;B	0.27416	0.178;0.112	B;B	0.28139	0.086;0.039	T	0.56135	-0.8029	10	0.66056	D	0.02	-0.3866	4.9835	0.14178	0.276:0.0:0.5001:0.2239	.	1535;1582	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	R	1535;1582;1582	ENSP00000364312:P1535R;ENSP00000346667:P1582R;ENSP00000364301:P1582R	ENSP00000346667:P1582R	P	-	2	0	WNK3	54276062	0.561000	0.26578	0.937000	0.37676	0.972000	0.66771	0.502000	0.22594	0.204000	0.20548	-0.199000	0.12753	CCA	WNK3	-	NULL	ENSG00000196632		0.463	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	145	0.00	0	G	NM_020922		54259337	54259337	-1	no_errors	ENST00000354646	ensembl	human	known	69_37n	missense	132	14.84	23	SNP	0.999	C
XIRP2	129446	genome.wustl.edu	37	2	168101752	168101752	+	Missense_Mutation	SNP	T	T	A			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr2:168101752T>A	ENST00000409195.1	+	9	3939	c.3850T>A	c.(3850-3852)Tta>Ata	p.L1284I	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L1062I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L1284I|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1109					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GACTTTTTCTTTAGATGAGAT	0.358																																						dbGAP											0													118.0	113.0	114.0					2																	168101752		1828	4085	5913	-	-	-	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3850T>A	2.37:g.168101752T>A	ENSP00000386840:p.Leu1284Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.L1284I	ENST00000409195.1	37	c.3850	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	T	14.45	2.538513	0.45176	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.10860	2.85;2.85;2.83	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000001	T	0.31857	0.0810	M	0.77103	2.36	0.48395	D	0.999643	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.991;0.999;0.999	T	0.03717	-1.1010	10	0.54805	T	0.06	-10.1028	10.0859	0.42417	0.0:0.0784:0.0:0.9216	.	1109;1109;1062	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	1284;1284;1062	ENSP00000386840:L1284I;ENSP00000295237:L1284I;ENSP00000387255:L1062I	ENSP00000295237:L1284I	L	+	1	2	XIRP2	167809998	0.931000	0.31567	1.000000	0.80357	0.912000	0.54170	1.113000	0.31184	2.215000	0.71742	0.460000	0.39030	TTA	XIRP2	-	NULL	ENSG00000163092		0.358	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	69	0.00	0	T	NM_152381		168101752	168101752	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	45	22.41	13	SNP	0.998	A
ZFAND1	79752	genome.wustl.edu	37	8	82626198	82626198	+	Silent	SNP	C	C	T			TCGA-E9-A243-01A-21D-A167-09	TCGA-E9-A243-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c6bb16c6-cb0f-44c6-93e7-6c55d0958f82	a7e3e9d1-e371-4d3d-92cd-7985f276f70b	g.chr8:82626198C>T	ENST00000220669.5	-	6	453	c.435G>A	c.(433-435)ttG>ttA	p.L145L	ZFAND1_ENST00000517588.1_Silent_p.L38L|ZFAND1_ENST00000522520.1_Silent_p.L38L|ZFAND1_ENST00000523096.1_Silent_p.L145L|ZFAND1_ENST00000519523.1_Silent_p.L145L|ZFAND1_ENST00000521895.1_Silent_p.L38L|ZFAND1_ENST00000521287.1_Silent_p.L38L	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	145							zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TTAATTTCATCAATGCAACCT	0.358																																						dbGAP											0													196.0	169.0	178.0					8																	82626198		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.435G>A	8.37:g.82626198C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Silent	SNP	pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1	p.L145	ENST00000220669.5	37	c.435	CCDS6232.1	8																																																																																			ZFAND1	-	NULL	ENSG00000104231		0.358	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND1	HGNC	protein_coding	OTTHUMT00000379739.1	303	0.00	0	C	NM_024699		82626198	82626198	-1	no_errors	ENST00000220669	ensembl	human	known	69_37n	silent	233	12.08	32	SNP	0.993	T
