#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
ARHGEF2	9181	genome.wustl.edu	37	1	155932874	155932874	+	Silent	SNP	C	C	T			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr1:155932874C>T	ENST00000361247.4	-	8	924	c.825G>A	c.(823-825)gtG>gtA	p.V275V	ARHGEF2_ENST00000462460.2_Silent_p.V320V|ARHGEF2_ENST00000313667.4_Silent_p.V274V|ARHGEF2_ENST00000368316.1_Silent_p.V247V|ARHGEF2_ENST00000313695.7_Silent_p.V247V|ARHGEF2_ENST00000368315.4_Silent_p.V276V|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	275	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGCCCTGGACCACTCCTGGCT	0.597																																					Melanoma(178;35 2768 6610 28839)	dbGAP											0													92.0	80.0	84.0					1																	155932874		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.825G>A	1.37:g.155932874C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.V276	ENST00000361247.4	37	c.828	CCDS53376.1	1																																																																																			ARHGEF2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000116584		0.597	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	121	0.00	0	C	NM_004723		155932874	155932874	-1	no_errors	ENST00000368315	ensembl	human	known	69_37n	silent	107	21.01	29	SNP	0.134	T
ARRDC5	645432	genome.wustl.edu	37	19	4891118	4891118	+	Silent	SNP	A	A	C			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr19:4891118A>C	ENST00000381781.2	-	3	968	c.969T>G	c.(967-969)tcT>tcG	p.S323S	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	323										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GGCAGATGGCAGAGTCCACTG	0.522																																						dbGAP											0													95.0	99.0	98.0					19																	4891118		2128	4238	6366	-	-	-	SO:0001819	synonymous_variant	0				CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.969T>G	19.37:g.4891118A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.S323	ENST00000381781.2	37	c.969	CCDS45929.1	19																																																																																			ARRDC5	-	superfamily_Ig_E-set	ENSG00000205784		0.522	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ARRDC5	HGNC	protein_coding	OTTHUMT00000450443.1	186	0.00	0	A	XM_292803		4891118	4891118	-1	no_errors	ENST00000381781	ensembl	human	known	69_37n	silent	88	33.33	44	SNP	0.000	C
ATF7IP	55729	genome.wustl.edu	37	12	14650900	14650900	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr12:14650900G>A	ENST00000540793.1	+	14	3861	c.3706G>A	c.(3706-3708)Ggt>Agt	p.G1236S	ATF7IP_ENST00000536444.1_Missense_Mutation_p.G1235S|ATF7IP_ENST00000261168.4_Missense_Mutation_p.G1236S|ATF7IP_ENST00000544627.1_Missense_Mutation_p.G1244S			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1236	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Interaction with MBD1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GTTTGTATCTGGTAGCAAATA	0.478																																						dbGAP											0													142.0	129.0	133.0					12																	14650900		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3706G>A	12.37:g.14650900G>A	ENSP00000444589:p.Gly1236Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.G1236S	ENST00000540793.1	37	c.3706	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702592	0.88924	.	.	ENSG00000171681	ENST00000261168;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	6.08	6.08	0.98989	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	T	0.48677	0.1513	N	0.17082	0.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52449	-0.8574	10	0.87932	D	0	-12.6802	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1235;1236	G3V1U0;Q6VMQ6	.;MCAF1_HUMAN	S	1236;1235;1244;1236	ENSP00000261168:G1236S;ENSP00000445955:G1235S;ENSP00000440440:G1244S;ENSP00000444589:G1236S	ENSP00000261168:G1236S	G	+	1	0	ATF7IP	14542167	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.870000	0.87175	2.894000	0.99253	0.655000	0.94253	GGT	ATF7IP	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000171681		0.478	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	113	0.00	0	G	NM_018179		14650900	14650900	+1	no_errors	ENST00000261168	ensembl	human	known	69_37n	missense	74	32.43	36	SNP	1.000	A
BACH2	60468	genome.wustl.edu	37	6	90660902	90660902	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr6:90660902T>G	ENST00000257749.4	-	7	1630	c.923A>C	c.(922-924)gAg>gCg	p.E308A	BACH2_ENST00000537989.1_Missense_Mutation_p.E308A|RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.E308A	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	308						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)			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)		CCGGTCCATCTCGACATCCCC	0.632																																						dbGAP											0													47.0	45.0	46.0					6																	90660902		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.923A>C	6.37:g.90660902T>G	ENSP00000257749:p.Glu308Ala	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.E308A	ENST00000257749.4	37	c.923	CCDS5026.1	6	.	.	.	.	.	.	.	.	.	.	T	9.113	1.007050	0.19199	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.39787	1.06;1.06;1.06	5.03	5.03	0.67393	.	0.225800	0.44688	D	0.000436	T	0.14442	0.0349	N	0.12182	0.205	0.54753	D	0.999987	B	0.13145	0.007	B	0.12837	0.008	T	0.04203	-1.0969	10	0.37606	T	0.19	-9.4072	14.9447	0.71020	0.0:0.0:0.0:1.0	.	308	Q9BYV9	BACH2_HUMAN	A	308	ENSP00000257749:E308A;ENSP00000437473:E308A;ENSP00000345642:E308A	ENSP00000257749:E308A	E	-	2	0	BACH2	90717623	1.000000	0.71417	0.989000	0.46669	0.631000	0.37964	7.525000	0.81892	2.118000	0.64928	0.533000	0.62120	GAG	BACH2	-	NULL	ENSG00000112182		0.632	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2	45	0.00	0	T	NM_021813		90660902	90660902	-1	no_errors	ENST00000257749	ensembl	human	known	69_37n	missense	7	58.82	10	SNP	1.000	G
M1AP	130951	genome.wustl.edu	37	2	74803671	74803671	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr2:74803671T>A	ENST00000290536.5	-	6	960	c.844A>T	c.(844-846)Aga>Tga	p.R282*	M1AP_ENST00000409585.1_Nonsense_Mutation_p.R282*|M1AP_ENST00000536235.1_Nonsense_Mutation_p.R282*|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_5'UTR	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	282					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TCATCCATTCTCAAGGAGCCG	0.483																																						dbGAP											0													108.0	99.0	102.0					2																	74803671		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.844A>T	2.37:g.74803671T>A	ENSP00000290536:p.Arg282*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Nonsense_Mutation	SNP	NULL	p.R282*	ENST00000290536.5	37	c.844	CCDS33229.1	2	.	.	.	.	.	.	.	.	.	.	T	33	5.226061	0.95173	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235	.	.	.	5.41	4.24	0.50183	.	0.272597	0.41712	D	0.000829	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0551	9.6887	0.40114	0.0:0.0:0.1751:0.8249	.	.	.	.	X	282	.	ENSP00000290536:R282X	R	-	1	2	C2orf65	74657179	0.988000	0.35896	0.895000	0.35142	0.499000	0.33736	2.770000	0.47662	0.973000	0.38340	0.533000	0.62120	AGA	C2orf65	-	NULL	ENSG00000159374		0.483	M1AP-001	KNOWN	basic|CCDS	protein_coding	C2orf65	HGNC	protein_coding	OTTHUMT00000328569.1	255	0.00	0	T	NM_138804		74803671	74803671	-1	no_errors	ENST00000290536	ensembl	human	known	69_37n	nonsense	166	21.33	45	SNP	0.914	A
CFAP58	159686	genome.wustl.edu	37	10	106153122	106153122	+	Silent	SNP	T	T	C			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr10:106153122T>C	ENST00000369704.3	+	11	1697	c.1563T>C	c.(1561-1563)atT>atC	p.I521I		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		521						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGTTAAAGATTATGATCCATC	0.393																																						dbGAP											0													64.0	65.0	64.0					10																	106153122		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000369704.3:c.1563T>C	10.37:g.106153122T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRA6|Q8NA27	Silent	SNP	superfamily_Homeodomain-like	p.I521	ENST00000369704.3	37	c.1563	CCDS31282.1	10																																																																																			CCDC147	-	NULL	ENSG00000120051		0.393	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	155	0.00	0	T			106153122	106153122	+1	no_errors	ENST00000369704	ensembl	human	known	69_37n	silent	69	45.24	57	SNP	1.000	C
CCDC57	284001	genome.wustl.edu	37	17	80159567	80159567	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr17:80159567T>A	ENST00000389641.4	-	2	290	c.254A>T	c.(253-255)gAa>gTa	p.E85V	CCDC57_ENST00000392343.3_Missense_Mutation_p.E85V|CCDC57_ENST00000392347.1_Missense_Mutation_p.E85V			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	85										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CCTGGCCTCTTCCCACTCCCT	0.642																																						dbGAP											0													44.0	52.0	49.0					17																	80159567		2146	4247	6393	-	-	-	SO:0001583	missense	0			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.254A>T	17.37:g.80159567T>A	ENSP00000374292:p.Glu85Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	NULL	p.E85V	ENST00000389641.4	37	c.254		17	.	.	.	.	.	.	.	.	.	.	T	17.36	3.368928	0.61624	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.26957	2.89;2.89;1.7	5.48	5.48	0.80851	.	0.134298	0.47455	D	0.000224	T	0.47210	0.1433	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.976	T	0.40459	-0.9562	10	0.46703	T	0.11	-17.1198	13.4908	0.61393	0.0:0.0:0.0:1.0	.	85;85	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	V	85	ENSP00000374292:E85V;ENSP00000376158:E85V;ENSP00000376154:E85V	ENSP00000374292:E85V	E	-	2	0	CCDC57	77752856	1.000000	0.71417	0.907000	0.35723	0.200000	0.23975	6.209000	0.72171	2.071000	0.62044	0.528000	0.53228	GAA	CCDC57	-	NULL	ENSG00000176155		0.642	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC57	HGNC	protein_coding	OTTHUMT00000277182.3	42	0.00	0	T	NM_198082		80159567	80159567	-1	no_errors	ENST00000389641	ensembl	human	known	69_37n	missense	22	43.59	17	SNP	1.000	A
DAB2IP	153090	genome.wustl.edu	37	9	124534963	124534964	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr9:124534963_124534964insC	ENST00000408936.3	+	12	2338_2339	c.2156_2157insC	c.(2155-2160)gtccagfs	p.Q720fs	DAB2IP_ENST00000309989.1_Frame_Shift_Ins_p.Q596fs|DAB2IP_ENST00000259371.2_Frame_Shift_Ins_p.Q692fs			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	720	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TCCTCCGGGGTCCAGCCCTCAC	0.569																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2158dupC	9.37:g.124534965_124534965dupC	ENSP00000386183:p.Gln720fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Frame_Shift_Ins	INS	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.Q720fs	ENST00000408936.3	37	c.2156_2157		9																																																																																			DAB2IP	-	pfam_DUF3498	ENSG00000136848		0.569	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	29	0.00	0	-	NM_032552		124534963	124534964	+1	no_errors	ENST00000408936	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:1.000	C
FBN1	2200	genome.wustl.edu	37	15	48788403	48788403	+	Silent	SNP	C	C	A			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr15:48788403C>A	ENST00000316623.5	-	20	2768	c.2313G>T	c.(2311-2313)ctG>ctT	p.L771L		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	771	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGAGACTGTTCAGTACACATT	0.353																																						dbGAP											0													110.0	110.0	110.0					15																	48788403		2197	4296	6493	-	-	-	SO:0001819	synonymous_variant	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2313G>T	15.37:g.48788403C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.L771	ENST00000316623.5	37	c.2313	CCDS32232.1	15																																																																																			FBN1	-	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000166147		0.353	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	367	0.27	1	C			48788403	48788403	-1	no_errors	ENST00000316623	ensembl	human	known	69_37n	silent	117	41.50	83	SNP	1.000	A
FRG1B	284802	genome.wustl.edu	37	20	29614296	29614297	+	5'UTR	INS	-	-	AGA	rs376619640		TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr20:29614296_29614297insAGA	ENST00000278882.3	+	0	289_290				FRG1B_ENST00000358464.4_5'UTR|FRG1B_ENST00000439954.2_5'UTR			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						aagagaaaaagagaagatgaag	0.292																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-91->AGA	20.37:g.29614300_29614302dupAGA		Somatic		WXS	Illumina GAIIx	Phase_IV	C4AME5	RNA	INS	-	NULL	ENST00000278882.3	37	NULL		20																																																																																			FRG1B	-	-	ENSG00000149531		0.292	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	19	0.00	0	-	NR_003579		29614296	29614297	+1	no_errors	ENST00000482423	ensembl	human	known	69_37n	rna	10	16.67	2	INS	0.998:0.997	AGA
GABRG1	2565	genome.wustl.edu	37	4	46043235	46043235	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr4:46043235G>T	ENST00000295452.4	-	9	1335	c.1168C>A	c.(1168-1170)Cca>Aca	p.P390T		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	390					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTATTCATTGGAATCAGAGTG	0.393																																						dbGAP											0													65.0	68.0	67.0					4																	46043235		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1168C>A	4.37:g.46043235G>T	ENSP00000295452:p.Pro390Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5H9T8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.P390T	ENST00000295452.4	37	c.1168	CCDS3470.1	4	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782647	0.31502	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.83506	-1.73	4.7	4.7	0.59300	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.116668	0.64402	D	0.000013	T	0.60064	0.2240	N	0.01576	-0.805	0.48830	D	0.999711	B	0.06786	0.001	B	0.09377	0.004	T	0.60419	-0.7267	10	0.08599	T	0.76	.	16.7998	0.85611	0.0:0.0:1.0:0.0	.	390	Q8N1C3	GBRG1_HUMAN	T	390	ENSP00000295452:P390T	ENSP00000295452:P390T	P	-	1	0	GABRG1	45737992	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	4.644000	0.61397	2.436000	0.82500	0.585000	0.79938	CCA	GABRG1	-	superfamily_Neurotrans-gated_channel_TM,prints_GABBAg1_rcpt	ENSG00000163285		0.393	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1	228	0.00	0	G	NM_173536		46043235	46043235	-1	no_errors	ENST00000295452	ensembl	human	known	69_37n	missense	87	37.86	53	SNP	1.000	T
GIT1	28964	genome.wustl.edu	37	17	27909785	27909785	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr17:27909785C>G	ENST00000225394.3	-	4	584	c.336G>C	c.(334-336)caG>caC	p.Q112H	GIT1_ENST00000581348.1_Missense_Mutation_p.Q112H|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Missense_Mutation_p.Q112H|GIT1_ENST00000394869.3_Missense_Mutation_p.Q112H	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	112	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		ATGCCAGCATCTGGTACTTGG	0.592																																					Colon(81;41 1719 20078 35068)	dbGAP											0													90.0	79.0	83.0					17																	27909785		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.336G>C	17.37:g.27909785C>G	ENSP00000225394:p.Gln112His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP	p.Q112H	ENST00000225394.3	37	c.336	CCDS11250.1	17	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725715	0.89298	.	.	ENSG00000108262	ENST00000225394;ENST00000394869;ENST00000335356	T;T	0.43688	0.94;0.94	4.48	4.48	0.54585	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64886	0.2639	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.83275	0.996;0.973;0.984;0.992	T	0.68842	-0.5302	10	0.62326	D	0.03	.	16.4516	0.83993	0.0:1.0:0.0:0.0	.	116;112;112;112	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	H	112	ENSP00000225394:Q112H;ENSP00000378338:Q112H	ENSP00000225394:Q112H	Q	-	3	2	GIT1	24933911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.068000	0.41471	2.499000	0.84300	0.555000	0.69702	CAG	GIT1	-	pfam_ArfGAP,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,pfscan_ArfGAP	ENSG00000108262		0.592	GIT1-001	KNOWN	basic|CCDS	protein_coding	GIT1	HGNC	protein_coding	OTTHUMT00000256073.1	110	0.89	1	C	NM_014030		27909785	27909785	-1	no_errors	ENST00000394869	ensembl	human	known	69_37n	missense	40	43.66	31	SNP	1.000	G
HCN3	57657	genome.wustl.edu	37	1	155252422	155252422	+	Missense_Mutation	SNP	C	C	T	rs550961408		TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr1:155252422C>T	ENST00000368358.3	+	2	507	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	167					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CATCCGCACGCGCTACCTGCG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		16095	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													99.0	86.0	90.0					1																	155252422		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.499C>T	1.37:g.155252422C>T	ENSP00000357342:p.Arg167Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.R167C	ENST00000368358.3	37	c.499	CCDS1108.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061107	0.76074	.	.	ENSG00000143630	ENST00000368358	D	0.94687	-3.49	4.97	4.97	0.65823	Ion transport (1);	0.000000	0.51477	D	0.000096	D	0.95812	0.8637	M	0.76574	2.34	0.45867	D	0.99872	D	0.76494	0.999	D	0.65443	0.935	D	0.95704	0.8752	10	0.87932	D	0	.	11.0594	0.47938	0.1851:0.8149:0.0:0.0	.	167	Q9P1Z3	HCN3_HUMAN	C	167	ENSP00000357342:R167C	ENSP00000357342:R167C	R	+	1	0	HCN3	153519046	1.000000	0.71417	0.962000	0.40283	0.790000	0.44656	6.545000	0.73883	2.746000	0.94184	0.591000	0.81541	CGC	HCN3	-	pfam_Ion_trans_dom	ENSG00000143630		0.582	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN3	HGNC	protein_coding	OTTHUMT00000087388.1	91	0.00	0	C	NM_020897		155252422	155252422	+1	no_errors	ENST00000368358	ensembl	human	known	69_37n	missense	84	16.00	16	SNP	0.992	T
KCNH3	23416	genome.wustl.edu	37	12	49937716	49937716	+	Missense_Mutation	SNP	G	G	A	rs558683094		TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr12:49937716G>A	ENST00000257981.6	+	6	1102	c.842G>A	c.(841-843)cGt>cAt	p.R281H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	281					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTGAATTTCCGTACCACATTC	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15404	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													140.0	115.0	123.0					12																	49937716		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.842G>A	12.37:g.49937716G>A	ENSP00000257981:p.Arg281His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQ06	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,tigrfam_PAS	p.R281H	ENST00000257981.6	37	c.842	CCDS8786.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.291949	0.95546	.	.	ENSG00000135519	ENST00000257981	D	0.98192	-4.78	5.41	5.41	0.78517	Ion transport (1);	0.000000	0.48767	D	0.000175	D	0.98005	0.9343	L	0.58669	1.825	0.54753	D	0.999988	P	0.42039	0.769	P	0.52159	0.691	D	0.97535	1.0082	10	0.33940	T	0.23	.	17.0655	0.86558	0.0:0.0:1.0:0.0	.	281	Q9ULD8	KCNH3_HUMAN	H	281	ENSP00000257981:R281H	ENSP00000257981:R281H	R	+	2	0	KCNH3	48223983	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	8.018000	0.88722	2.723000	0.93209	0.561000	0.74099	CGT	KCNH3	-	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	ENSG00000135519		0.582	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2	72	0.00	0	G	NM_012284		49937716	49937716	+1	no_errors	ENST00000257981	ensembl	human	known	69_37n	missense	27	41.67	20	SNP	1.000	A
KIAA1586	57691	genome.wustl.edu	37	6	56918226	56918226	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr6:56918226A>G	ENST00000370733.4	+	4	1136	c.929A>G	c.(928-930)gAg>gGg	p.E310G	KIAA1586_ENST00000545356.1_Missense_Mutation_p.E283G	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	310							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATTATAGAAGAGAATGCCAAA	0.343																																						dbGAP											0													50.0	53.0	52.0					6																	56918226		2203	4297	6500	-	-	-	SO:0001583	missense	0			AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.929A>G	6.37:g.56918226A>G	ENSP00000359768:p.Glu310Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4M3|Q8IW25	Missense_Mutation	SNP	superfamily_RNaseH-like_dom	p.E310G	ENST00000370733.4	37	c.929	CCDS34480.1	6	.	.	.	.	.	.	.	.	.	.	a	9.536	1.112177	0.20795	.	.	ENSG00000168116	ENST00000370733;ENST00000545356	T;T	0.34859	1.35;1.34	3.41	2.18	0.27775	Ribonuclease H-like (1);	.	.	.	.	T	0.05547	0.0146	N	0.08118	0	0.21675	N	0.999592	P;P	0.38677	0.642;0.642	B;B	0.29077	0.098;0.098	T	0.15636	-1.0430	9	0.51188	T	0.08	-1.0045	6.5148	0.22242	0.7502:0.2497:0.0:0.0	.	283;310	F5H2N6;Q9HCI6	.;K1586_HUMAN	G	310;283	ENSP00000359768:E310G;ENSP00000445507:E283G	ENSP00000359768:E310G	E	+	2	0	KIAA1586	57026185	0.709000	0.27886	0.993000	0.49108	0.993000	0.82548	1.608000	0.36847	0.460000	0.27045	0.383000	0.25322	GAG	KIAA1586	-	superfamily_RNaseH-like_dom	ENSG00000168116		0.343	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1586	HGNC	protein_coding	OTTHUMT00000041033.1	107	0.00	0	A	NM_020931		56918226	56918226	+1	no_errors	ENST00000370733	ensembl	human	known	69_37n	missense	49	43.02	37	SNP	0.998	G
MDN1	23195	genome.wustl.edu	37	6	90410501	90410501	+	Silent	SNP	A	A	T			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr6:90410501A>T	ENST00000369393.3	-	56	8617	c.8502T>A	c.(8500-8502)tcT>tcA	p.S2834S	MDN1_ENST00000428876.1_Silent_p.S2834S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2834					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCCAAGGGCAGACATCTGCT	0.498																																						dbGAP											0													82.0	79.0	80.0					6																	90410501		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.8502T>A	6.37:g.90410501A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O15019|Q5T794	Silent	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.S2834	ENST00000369393.3	37	c.8502	CCDS5024.1	6																																																																																			MDN1	-	pirsf_Midasin	ENSG00000112159		0.498	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	247	0.00	0	A			90410501	90410501	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	silent	31	72.07	80	SNP	0.010	T
LAMA2	3908	genome.wustl.edu	37	6	129581882	129581882	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr6:129581882C>T	ENST00000421865.2	+	15	2172	c.2123C>T	c.(2122-2124)gCt>gTt	p.A708V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	708	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTGAATCCGCTGTCTCCTAT	0.448																																						dbGAP											0													218.0	205.0	209.0					6																	129581882		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2123C>T	6.37:g.129581882C>T	ENSP00000400365:p.Ala708Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.A708V	ENST00000421865.2	37	c.2123	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041537	0.93685	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.55413	0.52	5.58	5.58	0.84498	Laminin B type IV (2);Laminin B, subgroup (1);	0.067154	0.64402	D	0.000016	T	0.48714	0.1515	M	0.65498	2.005	0.58432	D	0.999996	P;P	0.40000	0.698;0.698	B;B	0.41946	0.371;0.371	T	0.56159	-0.8025	10	0.62326	D	0.03	.	18.3439	0.90314	0.0:1.0:0.0:0.0	.	708;708	A6NF00;P24043	.;LAMA2_HUMAN	V	708	ENSP00000400365:A708V	ENSP00000346769:A708V	A	+	2	0	LAMA2	129623575	1.000000	0.71417	0.091000	0.20842	0.363000	0.29612	5.536000	0.67180	2.624000	0.88883	0.650000	0.86243	GCT	LAMA2	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV	ENSG00000196569		0.448	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	374	0.00	0	C			129581882	129581882	+1	no_errors	ENST00000421865	ensembl	human	known	69_37n	missense	35	76.97	117	SNP	0.942	T
MEX3C	51320	genome.wustl.edu	37	18	48703491	48703491	+	5'UTR	SNP	C	C	G			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr18:48703491C>G	ENST00000591040.1	-	0	498							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		AAATCATTCTCTTCATTGAGC	0.468																																						dbGAP											0													116.0	108.0	110.0					18																	48703491		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000591040.1:c.-301G>C	18.37:g.48703491C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L022|Q9NZE3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.E404Q	ENST00000591040.1	37	c.1210		18	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941333	0.53079	.	.	ENSG00000176624	ENST00000406189	T	0.42131	0.98	5.97	5.97	0.96955	.	0.098325	0.64402	D	0.000001	T	0.53045	0.1772	L	0.39147	1.195	0.48040	D	0.999571	D	0.63880	0.993	P	0.57101	0.813	T	0.48317	-0.9046	10	0.54805	T	0.06	-10.1049	19.2102	0.93751	0.0:1.0:0.0:0.0	.	404	Q5U5Q3	MEX3C_HUMAN	Q	404	ENSP00000385610:E404Q	ENSP00000385610:E404Q	E	-	1	0	MEX3C	46957489	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.893000	0.63199	2.836000	0.97738	0.655000	0.94253	GAG	MEX3C	-	NULL	ENSG00000176624		0.468	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	MEX3C	HGNC	protein_coding	OTTHUMT00000449559.1	299	0.00	0	C	NM_016626		48703491	48703491	-1	no_errors	ENST00000406189	ensembl	human	known	69_37n	missense	87	47.09	81	SNP	1.000	G
PLEKHG4	25894	genome.wustl.edu	37	16	67320712	67320712	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr16:67320712C>T	ENST00000360461.5	+	16	5350	c.2815C>T	c.(2815-2817)Cgc>Tgc	p.R939C	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.R858C|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.R939C|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.R939C	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	939	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GCGCACTGGGCGCCACAAGTC	0.607																																						dbGAP											0													61.0	64.0	63.0					16																	67320712		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2815C>T	16.37:g.67320712C>T	ENSP00000353646:p.Arg939Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R939C	ENST00000360461.5	37	c.2815	CCDS32466.1	16	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908960	0.72868	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	4.62	3.6	0.41247	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.33834	N	0.004510	T	0.36110	0.0955	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;0.999	P;P	0.62014	0.897;0.791	T	0.38436	-0.9661	10	0.87932	D	0	.	13.6508	0.62310	0.1543:0.8457:0.0:0.0	.	858;939	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	C	939;939;939;858	ENSP00000353646:R939C;ENSP00000401118:R939C;ENSP00000368649:R939C;ENSP00000398030:R858C	ENSP00000353646:R939C	R	+	1	0	PLEKHG4	65878213	0.816000	0.29132	1.000000	0.80357	0.976000	0.68499	0.953000	0.29162	2.291000	0.77112	0.313000	0.20887	CGC	PLEKHG4	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000196155		0.607	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4	HGNC	protein_coding	OTTHUMT00000421395.2	51	0.00	0	C	NM_015432		67320712	67320712	+1	no_errors	ENST00000360461	ensembl	human	known	69_37n	missense	15	51.61	16	SNP	1.000	T
RAF1	5894	genome.wustl.edu	37	3	12650791	12650791	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr3:12650791T>C	ENST00000251849.4	-	4	803	c.364A>G	c.(364-366)Att>Gtt	p.I122V	RAF1_ENST00000442415.2_Missense_Mutation_p.I122V|RAF1_ENST00000542177.1_Missense_Mutation_p.I41V|RAF1_ENST00000534997.1_5'Flank	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	122	RBD. {ECO:0000255|PROSITE- ProRule:PRU00262}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	TCTTCTCCAATCAAAGACGCA	0.363			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													dbGAP		Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	0													163.0	164.0	164.0					3																	12650791		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.364A>G	3.37:g.12650791T>C	ENSP00000251849:p.Ile122Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.I122V	ENST00000251849.4	37	c.364	CCDS2612.1	3	.	.	.	.	.	.	.	.	.	.	T	4.535	0.099255	0.08681	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000542177	T;T;T;T	0.74106	-0.8;-0.8;-0.81;-0.81	5.84	4.5	0.54988	Raf-like Ras-binding (3);	0.211256	0.47852	D	0.000211	T	0.50735	0.1633	N	0.12746	0.255	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.46261	-0.9204	10	0.07175	T	0.84	.	9.8291	0.40930	0.0:0.1439:0.0:0.8561	.	41;122	B4E0X2;P04049	.;RAF1_HUMAN	V	122;122;34;41	ENSP00000251849:I122V;ENSP00000401888:I122V;ENSP00000398591:I34V;ENSP00000443567:I41V	ENSP00000251849:I122V	I	-	1	0	RAF1	12625791	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	5.109000	0.64615	2.228000	0.72767	0.533000	0.62120	ATT	RAF1	-	pfam_Raf-like_ras-bd,smart_Raf-like_ras-bd,pfscan_Raf-like_ras-bd	ENSG00000132155		0.363	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAF1	HGNC	protein_coding	OTTHUMT00000252015.2	426	0.00	0	T	NM_002880		12650791	12650791	-1	no_errors	ENST00000442415	ensembl	human	known	69_37n	missense	188	37.09	112	SNP	1.000	C
STK40	83931	genome.wustl.edu	37	1	36807418	36807418	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr1:36807418C>T	ENST00000373129.3	-	12	1652	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N	STK40_ENST00000359297.2_3'UTR|STK40_ENST00000373132.3_Missense_Mutation_p.D416N|STK40_ENST00000373130.3_Missense_Mutation_p.D421N	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	416					glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GGCTGTGCGTCGTGGCCCAGC	0.672																																						dbGAP											0													58.0	62.0	61.0					1																	36807418		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.1246G>A	1.37:g.36807418C>T	ENSP00000362221:p.Asp416Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D421N	ENST00000373129.3	37	c.1261	CCDS407.1	1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501716	0.64298	.	.	ENSG00000196182	ENST00000373129;ENST00000373130;ENST00000373132	T;T;T	0.66815	-0.22;-0.23;-0.22	5.01	4.1	0.47936	.	0.111045	0.64402	D	0.000004	T	0.69278	0.3093	L	0.32530	0.975	0.50632	D	0.999887	D;D	0.76494	0.999;0.998	P;P	0.61070	0.883;0.766	T	0.70278	-0.4916	10	0.51188	T	0.08	-30.3042	12.6764	0.56897	0.0:0.9192:0.0:0.0808	.	421;416	Q8N2I9-4;Q8N2I9	.;STK40_HUMAN	N	416;421;416	ENSP00000362221:D416N;ENSP00000362222:D421N;ENSP00000362224:D416N	ENSP00000362221:D416N	D	-	1	0	STK40	36580005	1.000000	0.71417	0.992000	0.48379	0.140000	0.21249	7.404000	0.79996	1.108000	0.41662	-0.244000	0.11960	GAC	STK40	-	NULL	ENSG00000196182		0.672	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STK40	HGNC	protein_coding	OTTHUMT00000022592.1	32	0.00	0	C	NM_032017		36807418	36807418	-1	no_errors	ENST00000373130	ensembl	human	known	69_37n	missense	7	50.00	7	SNP	1.000	T
SLC35D1	23169	genome.wustl.edu	37	1	67519643	67519643	+	Silent	SNP	C	C	A	rs201982159		TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr1:67519643C>A	ENST00000235345.5	-	1	139	c.54G>T	c.(52-54)gcG>gcT	p.A18A	SLC35D1_ENST00000506472.2_5'Flank	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	18					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						TGGAGGATTTCGCGGGGGCTT	0.652																																						dbGAP											0													48.0	54.0	52.0					1																	67519643		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.54G>T	1.37:g.67519643C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K185|B7Z3X2|Q52LU5|Q92548	Silent	SNP	pfam_DUF250	p.A18	ENST00000235345.5	37	c.54	CCDS636.1	1																																																																																			SLC35D1	-	NULL	ENSG00000116704		0.652	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35D1	HGNC	protein_coding	OTTHUMT00000025948.1	57	0.00	0	C	NM_015139		67519643	67519643	-1	no_errors	ENST00000235345	ensembl	human	known	69_37n	silent	25	46.81	22	SNP	0.999	A
SYNE1	23345	genome.wustl.edu	37	6	152477160	152477160	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr6:152477160G>A	ENST00000367255.5	-	132	24464	c.23863C>T	c.(23863-23865)Cac>Tac	p.H7955Y	SYNE1_ENST00000448038.1_Missense_Mutation_p.H7884Y|SYNE1_ENST00000341594.5_Missense_Mutation_p.H7567Y|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.H110Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.H7955Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.H7884Y|SYNE1_ENST00000356820.4_Missense_Mutation_p.H2479Y|SYNE1_ENST00000539504.1_Missense_Mutation_p.H110Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7955					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCACAGTCGTGCAGCAGGACT	0.522										HNSCC(10;0.0054)																												dbGAP											0													144.0	130.0	135.0					6																	152477160		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23863C>T	6.37:g.152477160G>A	ENSP00000356224:p.His7955Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.H7955Y	ENST00000367255.5	37	c.23863	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	32	5.165059	0.94727	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.34667	1.35;1.57;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.57	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000009	T	0.59004	0.2162	M	0.78223	2.4	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;0.997	T	0.61043	-0.7142	10	0.72032	D	0.01	.	20.1057	0.97893	0.0:0.0:1.0:0.0	.	7955;7955;7884;7884;157	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	Y	7955;110;601;7884;7955;7884;7567;2479;117;112;877;110	ENSP00000356224:H7955Y;ENSP00000441052:H110Y;ENSP00000356226:H601Y;ENSP00000396024:H7884Y;ENSP00000265368:H7955Y;ENSP00000390975:H7884Y;ENSP00000341887:H7567Y;ENSP00000349276:H2479Y;ENSP00000356220:H877Y;ENSP00000346701:H110Y	ENSP00000265368:H7955Y	H	-	1	0	SYNE1	152518853	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.813000	0.99286	2.827000	0.97445	0.650000	0.86243	CAC	SYNE1	-	pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000131018		0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	174	0.00	0	G	NM_182961		152477160	152477160	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	69	11.54	9	SNP	1.000	A
TAOK3	51347	genome.wustl.edu	37	12	118619257	118619257	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr12:118619257C>A	ENST00000392533.3	-	15	1975	c.1485G>T	c.(1483-1485)aaG>aaT	p.K495N	TAOK3_ENST00000419821.2_Missense_Mutation_p.K495N|TAOK3_ENST00000537952.1_Missense_Mutation_p.K35N	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	495					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTCCACCTCCTTCTGTAGCT	0.557											OREG0022177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													172.0	133.0	146.0					12																	118619257		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.1485G>T	12.37:g.118619257C>A	ENSP00000376317:p.Lys495Asn	Somatic	1489	WXS	Illumina GAIIx	Phase_IV	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K495N	ENST00000392533.3	37	c.1485	CCDS9188.1	12	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227255	0.79576	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952;ENST00000359811;ENST00000540561	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.43	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	M	0.82193	2.58	0.80722	D	1	D	0.67145	0.996	D	0.65773	0.938	T	0.69606	-0.5100	10	0.87932	D	0	.	10.1303	0.42674	0.0:0.7867:0.0:0.2133	.	495	Q9H2K8	TAOK3_HUMAN	N	495;495;35;115;35	ENSP00000416374:K495N;ENSP00000376317:K495N;ENSP00000443834:K35N;ENSP00000443487:K35N	ENSP00000352863:K115N	K	-	3	2	TAOK3	117103640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.602000	0.36783	0.864000	0.35578	0.650000	0.86243	AAG	TAOK3	-	NULL	ENSG00000135090		0.557	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK3	HGNC	protein_coding	OTTHUMT00000401456.2	200	0.00	0	C	NM_016281		118619257	118619257	-1	no_errors	ENST00000392533	ensembl	human	known	69_37n	missense	75	48.98	72	SNP	1.000	A
ZNF407	55628	genome.wustl.edu	37	18	72346030	72346030	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18S-01A-11D-A12B-09	TCGA-BH-A18S-11A-43D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a01c12fc-a33e-4a06-8b69-ebe6d4f59c2b	cee84481-1eca-4469-b2be-77830f5a9510	g.chr18:72346030T>C	ENST00000299687.5	+	1	3055	c.3055T>C	c.(3055-3057)Tgt>Cgt	p.C1019R	ZNF407_ENST00000582337.1_Missense_Mutation_p.C1019R|ZNF407_ENST00000577538.1_Missense_Mutation_p.C1019R|ZNF407_ENST00000309902.6_Missense_Mutation_p.C1019R	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1019					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGAGAATAAGTGTTTGCACTG	0.453																																						dbGAP											0													109.0	108.0	108.0					18																	72346030		1987	4191	6178	-	-	-	SO:0001583	missense	0			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3055T>C	18.37:g.72346030T>C	ENSP00000299687:p.Cys1019Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.C1019R	ENST00000299687.5	37	c.3055	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	T	13.15	2.151090	0.38021	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.36878	1.23;1.23	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);	0.128255	0.51477	D	0.000082	T	0.50137	0.1598	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.47861	-0.9084	10	0.87932	D	0	.	15.1434	0.72630	0.0:0.0:0.0:1.0	.	1019;1019;1019	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	R	1019	ENSP00000299687:C1019R;ENSP00000310359:C1019R	ENSP00000299687:C1019R	C	+	1	0	ZNF407	70475018	1.000000	0.71417	0.139000	0.22197	0.113000	0.19764	5.219000	0.65262	2.868000	0.98415	0.557000	0.71058	TGT	ZNF407	-	smart_Znf_C2H2-like	ENSG00000215421		0.453	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	126	0.00	0	T	NM_017757		72346030	72346030	+1	no_errors	ENST00000299687	ensembl	human	known	69_37n	missense	45	44.44	36	SNP	0.993	C
