#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_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
AHDC1	27245	genome.wustl.edu	37	1	27878653	27878653	+	5'UTR	SNP	G	G	A			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr1:27878653G>A	ENST00000247087.5	-	0	570				AHDC1_ENST00000374011.2_5'UTR			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1								DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCAggccgccgggcggggccg	0.652																																							0											0													2.0	2.0	2.0					1																	27878653		1516	2665	4181	SO:0001623	5_prime_UTR_variant	0			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.-27C>T	1.37:g.27878653G>A			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	RNA	SNP	0	NULL	ENST00000247087.5	37	NULL	CCDS30652.1	1																																																																																			0	0		0.652	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	protein_coding	OTTHUMT00000009523.3	14	13	0	0.00	0	0	G		0	0		27878653	-1	no_errors	ENST00000487743	ensembl	human	known	74_37	rna	19	20	45.71	50.00	16	20	SNP	1	A
PLPPR4	9890	genome.wustl.edu	37	1	99772387	99772387	+	Missense_Mutation	SNP	G	G	A			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr1:99772387G>A	ENST00000370185.3	+	7	2610	c.2113G>A	c.(2113-2115)Gtc>Atc	p.V705I	LPPR4_ENST00000457765.1_Missense_Mutation_p.V647I|LPPR4_ENST00000370184.1_Missense_Mutation_p.V547I	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		705					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.V705I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CACCATCCGCGTCACCCCAGT	0.512																																							0											1	Substitution - Missense(1)	large_intestine(1)											65.0	57.0	60.0					1																	99772387		2203	4300	6503	SO:0001583	missense	0																														ENST00000370185.3:c.2113G>A	1.37:g.99772387G>A	ENSP00000359204:p.Val705Ile		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.V705I	ENST00000370185.3	37	c.2113	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603781	0.87157	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.27104	2.25;2.2;1.69	6.02	6.02	0.97574	.	0.416961	0.26761	N	0.022631	T	0.38401	0.1039	L	0.47716	1.5	0.80722	D	1	D;D	0.71674	0.998;0.994	D;P	0.73708	0.981;0.543	T	0.01033	-1.1474	9	.	.	.	-36.1055	20.5407	0.99260	0.0:0.0:1.0:0.0	.	647;705	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	I	705;647;547	ENSP00000359204:V705I;ENSP00000394913:V647I;ENSP00000359203:V547I	.	V	+	1	0	RP4-788L13.1	99544975	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.438000	0.97539	2.865000	0.98341	0.655000	0.94253	GTC	0	NULL		0.512	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	protein_coding	OTTHUMT00000029670.2	27	60	0	0.00	0	0	G		0	0		99772387	1	no_errors	ENST00000370185	ensembl	human	known	74_37	missense	19	109	42.42	41.40	14	77	SNP	1	A
SFT2D2	375035	genome.wustl.edu	37	1	168195362	168195362	+	Missense_Mutation	SNP	C	C	G			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr1:168195362C>G	ENST00000271375.4	+	1	117	c.45C>G	c.(43-45)gaC>gaG	p.D15E	SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367829.1_Missense_Mutation_p.D15E|SFT2D2_ENST00000367825.3_Missense_Mutation_p.D15E	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					ACACGGAGGACCGGAGCGGCC	0.731																																							0											0													41.0	39.0	40.0					1																	168195362		1669	3141	4810	SO:0001583	missense	0			AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.45C>G	1.37:g.168195362C>G	ENSP00000271375:p.Asp15Glu			Missense_Mutation	SNP	pfam_Vesicle_transpt_Got1/SFT2	p.D15E	ENST00000271375.4	37	c.45	CCDS1271.1	1	.	.	.	.	.	.	.	.	.	.	C	1.760	-0.487116	0.04352	.	.	ENSG00000213064	ENST00000367829;ENST00000271375;ENST00000367825	T	0.38240	1.15	3.88	-0.648	0.11464	.	0.323861	0.25714	U	0.028787	T	0.02230	0.0069	N	0.01824	-0.7	0.29270	N	0.870743	B	0.06786	0.001	B	0.06405	0.002	T	0.37126	-0.9719	9	0.02654	T	1	-13.4537	3.325	0.07063	0.0:0.4185:0.2075:0.374	.	15	O95562	SFT2B_HUMAN	E	15	ENSP00000271375:D15E	ENSP00000271375:D15E	D	+	3	2	SFT2D2	166461986	0.998000	0.40836	0.996000	0.52242	0.688000	0.40055	0.075000	0.14686	0.219000	0.20840	0.313000	0.20887	GAC	0	NULL		0.731	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFT2D2	protein_coding	OTTHUMT00000083827.2	29	10	0	0.00	0	0	C	NM_199344	0	0		168195362	1	no_errors	ENST00000271375	ensembl	human	known	74_37	missense	41	33	22.64	10.81	12	4	SNP	0.995	G
RASAL2	9462	genome.wustl.edu	37	1	178421661	178421661	+	Missense_Mutation	SNP	G	G	A			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr1:178421661G>A	ENST00000462775.1	+	9	1564	c.1439G>A	c.(1438-1440)cGt>cAt	p.R480H	RASAL2_ENST00000367649.3_Missense_Mutation_p.R628H|RASAL2_ENST00000448150.3_Missense_Mutation_p.R610H	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	480	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTATTTCTCCGTTTTCTGTGT	0.483																																							0											0													292.0	249.0	264.0					1																	178421661		2203	4300	6503	SO:0001583	missense	0			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1439G>A	1.37:g.178421661G>A	ENSP00000420558:p.Arg480His		F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.R628H	ENST00000462775.1	37	c.1883	CCDS1322.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.263374	0.95399	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	D;T;D	0.89196	-2.48;1.29;-2.48	5.15	5.15	0.70609	Ras GTPase-activating protein, conserved site (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.96781	0.8949	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98348	1.0542	10	0.87932	D	0	.	18.6427	0.91400	0.0:0.0:1.0:0.0	.	480;628	Q9UJF2;F8W755	NGAP_HUMAN;.	H	610;628;480	ENSP00000407768:R610H;ENSP00000356621:R628H;ENSP00000420558:R480H	ENSP00000356621:R628H	R	+	2	0	RASAL2	176688284	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	9.731000	0.98807	2.381000	0.81170	0.557000	0.71058	CGT	0	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.483	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL2	protein_coding	OTTHUMT00000084758.3	13	52	0	0.00	0	0	G	NM_170692	0	0		178421661	1	no_errors	ENST00000367649	ensembl	human	known	74_37	missense	27	147	44.9	34.67	22	78	SNP	1	A
UGT1A3	54659	genome.wustl.edu	37	2	234638522	234638522	+	Silent	SNP	T	T	C	rs115983652	byFrequency	TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr2:234638522T>C	ENST00000482026.1	+	1	769	c.750T>C	c.(748-750)agT>agC	p.S250S	UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Silent_p.S250S|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	250					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	ATATTCTCAGTCATGCATCTG	0.512																																							0											0													249.0	242.0	244.0					2																	234638522		2203	4300	6503	SO:0001819	synonymous_variant	0			M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.750T>C	2.37:g.234638522T>C			B8K287	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.S250	ENST00000482026.1	37	c.750	CCDS2509.1	2																																																																																			0	pfam_UDP_glucos_trans		0.512	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A3	protein_coding	OTTHUMT00000130983.1	58	9	0	0.00	0	0	T	NM_019093	rs115983652	T->C		234638522	1	no_errors	ENST00000482026	ensembl	human	known	74_37	silent	75	50	14.77	13.79	13	8	SNP	0	C
UGT1A3	54659	genome.wustl.edu	37	2	234638547	234638547	+	Missense_Mutation	SNP	G	G	C	rs149324549	byFrequency	TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr2:234638547G>C	ENST00000482026.1	+	1	794	c.775G>C	c.(775-777)Ggg>Cgg	p.G259R	UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.G259R|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	259					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	GCTGTTCCGAGGGGACTTTGT	0.502																																							0											0													204.0	201.0	202.0					2																	234638547		2203	4300	6503	SO:0001583	missense	0			M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.775G>C	2.37:g.234638547G>C	ENSP00000418532:p.Gly259Arg		B8K287	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.G259R	ENST00000482026.1	37	c.775	CCDS2509.1	2	.	.	.	.	.	.	.	.	.	.	g	7.401	0.632710	0.14322	.	.	ENSG00000243135	ENST00000482026	T	0.61510	0.1	3.91	-1.15	0.09709	.	.	.	.	.	T	0.43964	0.1271	L	0.50333	1.59	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.20184	0.028;0.028	T	0.43877	-0.9364	9	0.51188	T	0.08	.	0.9189	0.01311	0.1977:0.2228:0.3399:0.2396	.	259;259	Q5DT01;P35503	.;UD13_HUMAN	R	259	ENSP00000418532:G259R	ENSP00000418532:G259R	G	+	1	0	UGT1A3	234303286	0.000000	0.05858	0.795000	0.32087	0.872000	0.50106	-0.494000	0.06451	0.140000	0.18849	0.454000	0.30748	GGG	0	pfam_UDP_glucos_trans		0.502	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A3	protein_coding	OTTHUMT00000130983.1	65	12	0	0.00	0	0	G	NM_019093	rs149324549	G->C		234638547	1	no_errors	ENST00000482026	ensembl	human	known	74_37	missense	74	62	14.77	11.43	13	8	SNP	0.001	C
UGT1A3	54659	genome.wustl.edu	37	2	234638555	234638555	+	Silent	SNP	T	T	C	rs138129589		TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr2:234638555T>C	ENST00000482026.1	+	1	802	c.783T>C	c.(781-783)ttT>ttC	p.F261F	UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Silent_p.F261F|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	261					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	GAGGGGACTTTGTGATGGACT	0.517																																							0											0													193.0	191.0	192.0					2																	234638555		2203	4300	6503	SO:0001819	synonymous_variant	0			M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.783T>C	2.37:g.234638555T>C			B8K287	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.F261	ENST00000482026.1	37	c.783	CCDS2509.1	2																																																																																			0	pfam_UDP_glucos_trans		0.517	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A3	protein_coding	OTTHUMT00000130983.1	64	12	0	0.00	0	0	T	NM_019093	rs138129589	T->C		234638555	1	no_errors	ENST00000482026	ensembl	human	known	74_37	silent	74	64	15.91	11.11	14	8	SNP	1	C
UGT1A3	54659	genome.wustl.edu	37	2	234638576	234638576	+	Silent	SNP	A	A	G	rs530125998	byFrequency	TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr2:234638576A>G	ENST00000482026.1	+	1	823	c.804A>G	c.(802-804)ccA>ccG	p.P268P	UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Silent_p.P268P|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	268					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	ACCCCAGGCCAATCATGCCCA	0.507													A|||	40	0.00798722	0.0113	0.0	5008	,	,		17575	0.0109		0.0	False		,,,				2504	0.0143						0											0													151.0	152.0	151.0					2																	234638576		2203	4300	6503	SO:0001819	synonymous_variant	0			M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.804A>G	2.37:g.234638576A>G			B8K287	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.P268	ENST00000482026.1	37	c.804	CCDS2509.1	2																																																																																			0	pfam_UDP_glucos_trans		0.507	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A3	protein_coding	OTTHUMT00000130983.1	61	13	0	0.00	0	0	A	NM_019093	rs530125998	A->G		234638576	1	no_errors	ENST00000482026	ensembl	human	known	74_37	silent	68	67	15	8.22	12	6	SNP	0.29	G
GNL3	26354	genome.wustl.edu	37	3	52728247	52728247	+	Missense_Mutation	SNP	A	A	G			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr3:52728247A>G	ENST00000418458.1	+	15	1779	c.1606A>G	c.(1606-1608)Att>Gtt	p.I536V	GLT8D1_ENST00000463827.1_5'Flank|GNL3_ENST00000394799.2_Missense_Mutation_p.I524V|SNORD69_ENST00000391150.1_RNA|SNORD19_ENST00000410413.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	536	Acidic. {ECO:0000250}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GGATAAAATCATTGAAGAGGA	0.303																																							0											0													55.0	63.0	60.0					3																	52728247		2203	4300	6503	SO:0001583	missense	0			AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.1606A>G	3.37:g.52728247A>G	ENSP00000395772:p.Ile536Val		B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Missense_Mutation	SNP	pfam_Gnl3_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase	p.I536V	ENST00000418458.1	37	c.1606	CCDS2861.1	3	.	.	.	.	.	.	.	.	.	.	A	5.604	0.296219	0.10622	.	.	ENSG00000163938	ENST00000418458;ENST00000394799	T;T	0.16597	2.33;2.33	5.63	0.00696	0.14069	.	1.210750	0.05536	N	0.564836	T	0.07279	0.0184	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.36359	-0.9751	10	0.20046	T	0.44	.	1.1249	0.01732	0.3935:0.2982:0.1646:0.1437	.	536	Q9BVP2	GNL3_HUMAN	V	536;524	ENSP00000395772:I536V;ENSP00000378278:I524V	ENSP00000378278:I524V	I	+	1	0	GNL3	52703287	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.445000	0.21677	0.126000	0.18424	0.533000	0.62120	ATT	0	NULL		0.303	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3	protein_coding	OTTHUMT00000352032.1	27	33	0	0.00	0	0	A	NM_014366	0	0		52728247	1	no_errors	ENST00000418458	ensembl	human	known	74_37	missense	29	45	38.3	48.31	18	43	SNP	0	G
GRAMD1C	54762	genome.wustl.edu	37	3	113658830	113658830	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr3:113658830G>T	ENST00000358160.4	+	16	2281	c.1789G>T	c.(1789-1791)Gag>Tag	p.E597*	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Nonsense_Mutation_p.E392*|GRAMD1C_ENST00000472026.1_Nonsense_Mutation_p.E430*|GRAMD1C_ENST00000452134.2_Nonsense_Mutation_p.E326*	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	597						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						CCTCCAAGAAGAGAAATCTTT	0.368																																							0											0													126.0	122.0	123.0					3																	113658830		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1789G>T	3.37:g.113658830G>T	ENSP00000350881:p.Glu597*		A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Nonsense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.E597*	ENST00000358160.4	37	c.1789	CCDS33826.1	3	.	.	.	.	.	.	.	.	.	.	G	40	8.036993	0.98621	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000440446	.	.	.	5.53	5.53	0.82687	.	0.241866	0.41823	D	0.000803	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	10.7928	0.46443	0.0866:0.0:0.9134:0.0	.	.	.	.	X	597;326;430;392	.	ENSP00000350881:E597X	E	+	1	0	GRAMD1C	115141520	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.632000	0.54287	2.775000	0.95449	0.650000	0.86243	GAG	0	NULL		0.368	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD1C	protein_coding	OTTHUMT00000354733.1	36	89	0	0.00	0	0	G	NM_017577	0	0		113658830	1	no_errors	ENST00000358160	ensembl	human	known	74_37	nonsense	31	175	45.61	41.67	26	125	SNP	1	T
PARL	55486	genome.wustl.edu	37	3	183560151	183560151	+	Missense_Mutation	SNP	C	C	A			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr3:183560151C>A	ENST00000317096.4	-	6	752	c.692G>T	c.(691-693)aGc>aTc	p.S231I	PARL_ENST00000311101.5_Intron|PARL_ENST00000435888.1_Intron	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	231					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGAAGAGAAGCTCCACAAAAC	0.418																																							0											0													140.0	134.0	136.0					3																	183560151		2203	4300	6503	SO:0001583	missense	0			AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"""rhomboid 7 homolog 1 (Drosophila)"""	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.692G>T	3.37:g.183560151C>A	ENSP00000325421:p.Ser231Ile		Q96CQ4|Q9BTJ6|Q9P1E3	Missense_Mutation	SNP	pfam_Peptidase_S54_rhomboid_dom	p.S231I	ENST00000317096.4	37	c.692	CCDS3248.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.421925|4.421925	0.83559|0.83559	.|.	.|.	ENSG00000175193|ENSG00000175193	ENST00000417784|ENST00000317096;ENST00000450375	.|T;T	.|0.12672	.|2.66;2.66	5.32|5.32	5.32|5.32	0.75619|0.75619	.|Peptidase S54, rhomboid domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22898|0.22898	0.0553|0.0553	L|L	0.39326|0.39326	1.205|1.205	0.80722|0.80722	D|D	1|1	.|P	.|0.40834	.|0.73	.|P	.|0.53722	.|0.733	T|T	0.01242|0.01242	-1.1408|-1.1408	5|10	.|0.08179	.|T	.|0.78	-31.0931|-31.0931	19.3625|19.3625	0.94446|0.94446	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|231	.|Q9H300	.|PARL_HUMAN	D|I	22|231;11	.|ENSP00000325421:S231I;ENSP00000402689:S11I	.|ENSP00000325421:S231I	E|S	-|-	3|2	2|0	PARL|PARL	185042845|185042845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.228000|3.228000	0.51270|0.51270	2.653000|2.653000	0.90120|0.90120	0.655000|0.655000	0.94253|0.94253	GAG|AGC	0	pfam_Peptidase_S54_rhomboid_dom		0.418	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARL	protein_coding	OTTHUMT00000346465.1	28	5	0	0.00	0	0	C	NM_018622	0	0		183560151	-1	no_errors	ENST00000317096	ensembl	human	known	74_37	missense	34	32	12.82	5.88	5	2	SNP	1	A
NR3C2	4306	genome.wustl.edu	37	4	149075761	149075761	+	Missense_Mutation	SNP	A	A	C			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr4:149075761A>C	ENST00000358102.3	-	5	2668	c.2306T>G	c.(2305-2307)cTc>cGc	p.L769R	NR3C2_ENST00000355292.3_Missense_Mutation_p.L773R|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000344721.4_Missense_Mutation_p.L769R|NR3C2_ENST00000512865.1_Intron|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Missense_Mutation_p.L773R	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	769	Steroid-binding.		L -> P (in PHA1A). {ECO:0000269|PubMed:16972228}.		gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TAAGCGGTTGAGCGTGGAGAG	0.478																																					Melanoma(27;428 957 40335 51025 51111)		0											0													188.0	190.0	189.0					4																	149075761		2203	4300	6503	SO:0001583	missense	0			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2306T>G	4.37:g.149075761A>C	ENSP00000350815:p.Leu769Arg		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.L773R	ENST00000358102.3	37	c.2318	CCDS3772.1	4	.	.	.	.	.	.	.	.	.	.	A	26.1	4.708532	0.89018	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000511528	D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.98560	0.9519	M	0.92833	3.35	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.99667	1.0995	9	.	.	.	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	769	B0ZBF6	.	R	769;773;769;773	ENSP00000341390:L769R;ENSP00000347441:L773R;ENSP00000350815:L769R;ENSP00000421481:L773R	.	L	-	2	0	NR3C2	149295211	1.000000	0.71417	0.618000	0.29105	0.996000	0.88848	9.326000	0.96389	2.254000	0.74563	0.533000	0.62120	CTC	0	superfamily_Nucl_hormone_rcpt_ligand-bd		0.478	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	protein_coding	OTTHUMT00000364986.1	47	67	0	1.47	0	1	A		0	0		149075761	-1	no_errors	ENST00000355292	ensembl	human	known	74_37	missense	41	141	48.1	40.42	38	97	SNP	1	C
LRRC16A	55604	genome.wustl.edu	37	6	25280024	25280024	+	Start_Codon_SNP	SNP	A	A	G			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr6:25280024A>G	ENST00000329474.6	+	1	369	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAGGGCAACCATGACCGAGGA	0.532																																							0											0													204.0	230.0	222.0					6																	25280024		2026	4173	6199	SO:0001582	initiator_codon_variant	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1A>G	6.37:g.25280024A>G	ENSP00000331983:p.Met1Val		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.M1V	ENST00000329474.6	37	c.1	CCDS54973.1	6	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929615	0.73327	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.18174	2.23	4.17	4.17	0.49024	.	0.185927	0.33438	N	0.004902	T	0.28167	0.0695	.	.	.	0.80722	D	1	D;P;P	0.54964	0.969;0.865;0.811	D;P;P	0.63381	0.914;0.824;0.879	T	0.06409	-1.0828	9	0.87932	D	0	.	12.3301	0.55035	1.0:0.0:0.0:0.0	.	1;1;1	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	V	1	ENSP00000331983:M1V	ENSP00000331983:M1V	M	+	1	0	LRRC16A	25388003	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.345000	0.59360	1.733000	0.51620	0.533000	0.62120	ATG	0	NULL		0.532	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	protein_coding	OTTHUMT00000040045.2	45	72	0	0.00	0	0	A	NM_017640	0	0	Missense_Mutation	25280024	1	no_errors	ENST00000329474	ensembl	human	novel	74_37	missense	44	156	38.89	40.46	28	106	SNP	1	G
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	180	33	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	155	84	48.68	45.81	148	71	SNP	1	A
ZNF767P	79970	genome.wustl.edu	37	7	149318642	149318642	+	RNA	SNP	C	C	T			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr7:149318642C>T	ENST00000463567.1	-	0	194					NR_027788.1		Q75MW2	ZN767_HUMAN												central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			CCATCGTCCACGGAGAAATCT	0.537																																							0											0													53.0	54.0	54.0					7																	149318642		2202	4300	6502			0																															7.37:g.149318642C>T			D3DWG6|Q86WY4|Q9H9J3	RNA	SNP	0	NULL	ENST00000463567.1	37	NULL		7																																																																																			0	0		0.537	ZNF767-001	KNOWN	basic	processed_transcript	ZNF767	pseudogene	OTTHUMT00000352753.2	18	38	0	0.00	0	0	C		0	0		149318642	-1	no_errors	ENST00000463567	ensembl	human	known	74_37	rna	16	58	56.76	52.46	21	64	SNP	0.015	T
XKR4	114786	genome.wustl.edu	37	8	56270428	56270428	+	Missense_Mutation	SNP	G	G	C			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr8:56270428G>C	ENST00000327381.6	+	2	1097	c.997G>C	c.(997-999)Gcc>Ccc	p.A333P		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	333						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TAGCTTACAGGCCCTCCAAGG	0.478																																							0											0													85.0	75.0	79.0					8																	56270428		2203	4300	6503	SO:0001583	missense	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.997G>C	8.37:g.56270428G>C	ENSP00000328326:p.Ala333Pro		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.A333P	ENST00000327381.6	37	c.997	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168150	0.57476	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.63255	-0.03	5.96	5.96	0.96718	.	0.103094	0.64402	D	0.000003	T	0.50633	0.1627	L	0.31294	0.92	0.51012	D	0.999908	B	0.18166	0.026	B	0.18561	0.022	T	0.41448	-0.9508	10	0.35671	T	0.21	-11.3829	13.5936	0.61975	0.0705:0.0:0.9295:0.0	.	333	Q5GH76	XKR4_HUMAN	P	333	ENSP00000328326:A333P	ENSP00000328326:A333P	A	+	1	0	XKR4	56432982	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.955000	0.56715	2.831000	0.97527	0.650000	0.86243	GCC	0	pfam_Transport_prot_XK		0.478	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	protein_coding	OTTHUMT00000378129.2	31	47	0	0.00	0	0	G	NM_052898	0	0		56270428	1	no_errors	ENST00000327381	ensembl	human	known	74_37	missense	27	122	44.9	39.30	22	79	SNP	1	C
POLE3	54107	genome.wustl.edu	37	9	116171911	116171911	+	Missense_Mutation	SNP	G	G	A			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr9:116171911G>A	ENST00000374171.4	-	4	420	c.250C>T	c.(250-252)Cca>Tca	p.P84S	POLE3_ENST00000374169.3_Missense_Mutation_p.P84S|POLE3_ENST00000479871.1_5'UTR|C9orf43_ENST00000288462.4_5'Flank|C9orf43_ENST00000374165.1_5'Flank	NM_001278255.1|NM_017443.4	NP_001265184.1|NP_059139.3	Q9NRF9	DPOE3_HUMAN	polymerase (DNA directed), epsilon 3, accessory subunit	84					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|epsilon DNA polymerase complex (GO:0008622)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			large_intestine(2)|lung(1)	3					Cladribine(DB00242)	TCTTTCAATGGGGTAACGAAC	0.498																																							0											0													108.0	93.0	98.0					9																	116171911		2203	4300	6503	SO:0001583	missense	0			AF261689	CCDS6795.1	9q33	2012-05-18	2012-05-18		ENSG00000148229	ENSG00000148229		"""DNA polymerases"""	13546	protein-coding gene	gene with protein product	"""histone fold protein CHRAC17"", ""DNA polymerase epsilon p17 subunit"", ""chromatin accessibility complex 17"", ""arsenic transactivated protein"""	607267	"""polymerase (DNA directed), epsilon 3 (p17 subunit)"""			10801849, 10880450	Standard	NM_017443		Approved	CHRAC17, Ybl1, p17, CHARAC17	uc031tet.1	Q9NRF9	OTTHUMG00000020523	ENST00000374171.4:c.250C>T	9.37:g.116171911G>A	ENSP00000363286:p.Pro84Ser		Q5W0U1|Q8N758|Q8NCE5|Q9NR32	Missense_Mutation	SNP	pfam_CBFA_NFYB_domain,superfamily_Histone-fold	p.P84S	ENST00000374171.4	37	c.250	CCDS6795.1	9	.	.	.	.	.	.	.	.	.	.	G	9.231	1.035757	0.19590	.	.	ENSG00000148229	ENST00000374171;ENST00000374169	T;T	0.23147	1.92;1.92	5.36	4.47	0.54385	Histone-fold (2);	0.053764	0.85682	D	0.000000	T	0.20981	0.0505	L	0.43152	1.355	0.58432	D	0.999999	P	0.37663	0.604	B	0.32533	0.147	T	0.04708	-1.0932	10	0.87932	D	0	0.7083	11.1752	0.48595	0.0849:0.0:0.9151:0.0	.	84	Q9NRF9	DPOE3_HUMAN	S	84	ENSP00000363286:P84S;ENSP00000363284:P84S	ENSP00000363284:P84S	P	-	1	0	POLE3	115211732	1.000000	0.71417	0.086000	0.20670	0.047000	0.14425	8.703000	0.91344	1.511000	0.48818	-0.251000	0.11542	CCA	0	superfamily_Histone-fold		0.498	POLE3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	POLE3	protein_coding	OTTHUMT00000053730.1	22	66	0	0.00	0	0	G	NM_017443	0	0		116171911	-1	no_errors	ENST00000374169	ensembl	human	known	74_37	missense	30	156	45.45	47.83	25	143	SNP	0.988	A
SPTAN1	6709	genome.wustl.edu	37	9	131369929	131369929	+	Missense_Mutation	SNP	G	G	A	rs144804532		TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr9:131369929G>A	ENST00000372731.4	+	32	4203	c.4093G>A	c.(4093-4095)Gat>Aat	p.D1365N	SPTAN1_ENST00000358161.5_Missense_Mutation_p.D1365N|SPTAN1_ENST00000372739.3_Missense_Mutation_p.D1365N	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1365					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGTGTCCTCAGATGAGCTAGC	0.532																																					NSCLC(120;833 1744 2558 35612 37579)		0											0													175.0	172.0	173.0					9																	131369929		2203	4300	6503	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4093G>A	9.37:g.131369929G>A	ENSP00000361816:p.Asp1365Asn		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.D1365N	ENST00000372731.4	37	c.4093	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583597	0.65992	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.51071	0.72;0.72;0.72	5.63	4.74	0.60224	.	0.047872	0.85682	D	0.000000	T	0.45538	0.1347	L	0.53561	1.675	0.80722	D	1	B;B;B	0.23806	0.091;0.014;0.017	B;B;B	0.25759	0.063;0.02;0.035	T	0.38972	-0.9636	10	0.40728	T	0.16	.	14.7831	0.69781	0.0694:0.0:0.9306:0.0	.	1345;1365;1365	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	N	1365;1365;1365;1345	ENSP00000350882:D1365N;ENSP00000361816:D1365N;ENSP00000361824:D1365N	ENSP00000350882:D1365N	D	+	1	0	SPTAN1	130409750	1.000000	0.71417	0.964000	0.40570	0.987000	0.75469	9.420000	0.97426	1.524000	0.49035	0.655000	0.94253	GAT	0	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.532	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	protein_coding	OTTHUMT00000054472.1	26	38	0	0.00	0	0	G	NM_003127	0	0		131369929	1	no_errors	ENST00000358161	ensembl	human	known	74_37	missense	32	90	34.69	42.31	17	66	SNP	1	A
HRAS	3265	genome.wustl.edu	37	11	534286	534286	+	Missense_Mutation	SNP	C	C	G	rs104894228		TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr11:534286C>G	ENST00000451590.1	-	2	224	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000417302.1_Missense_Mutation_p.G13R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGCCCACACCGCCGGCGCCC	0.642		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																													0	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"""E, L, M"""	88	Substitution - Missense(87)|Insertion - In frame(1)	skin(26)|thyroid(17)|urinary_tract(13)|upper_aerodigestive_tract(11)|soft_tissue(8)|lung(5)|salivary_gland(3)|prostate(3)|adrenal_gland(1)|bone(1)	GRCh37	CM060018	HRAS	M	rs104894228						85.0	80.0	82.0					11																	534286		2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.37G>C	11.37:g.534286C>G	ENSP00000407586:p.Gly13Arg		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G13R	ENST00000451590.1	37	c.37	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589995	0.66105	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84257	0.5432	M	0.74647	2.275	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73708	0.967;0.981	D	0.86952	0.2086	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	R	13	ENSP00000380722:G13R;ENSP00000380723:G13R;ENSP00000407586:G13R;ENSP00000388246:G13R;ENSP00000309845:G13R	ENSP00000309845:G13R	G	-	1	0	HRAS	524286	1.000000	0.71417	0.446000	0.26920	0.236000	0.25371	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT	0	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	protein_coding	OTTHUMT00000259403.2	36	31	0	0.00	0	0	C	NM_176795	rs104894228	C->A,G,T		534286	-1	no_errors	ENST00000311189	ensembl	human	known	74_37	missense	23	58	54	38.54	27	37	SNP	1	G
FAM160A2	84067	genome.wustl.edu	37	11	6233063	6233063	+	Silent	SNP	G	G	A			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr11:6233063G>A	ENST00000449352.2	-	12	2855	c.2592C>T	c.(2590-2592)ctC>ctT	p.L864L	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000265978.4_Silent_p.L878L			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	864					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)		p.L878L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATGCCGCAGGAGTAACTCCC	0.617																																							0											1	Substitution - coding silent(1)	kidney(1)											95.0	105.0	101.0					11																	6233063		2200	4295	6495	SO:0001819	synonymous_variant	0				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2592C>T	11.37:g.6233063G>A			Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	pfam_RetinoicA-induced_16-like	p.L878	ENST00000449352.2	37	c.2634	CCDS44530.1	11																																																																																			0	NULL		0.617	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	protein_coding	OTTHUMT00000383759.1	46	39	0	0.00	0	0	G	NM_032127	0	0		6233063	-1	no_errors	ENST00000265978	ensembl	human	known	74_37	silent	20	77	55.56	45.00	25	63	SNP	0.999	A
C1QTNF5	114902	genome.wustl.edu	37	11	119210522	119210522	+	Missense_Mutation	SNP	C	C	T			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr11:119210522C>T	ENST00000528368.1	-	3	482	c.251G>A	c.(250-252)gGa>gAa	p.G84E	C1QTNF5_ENST00000445041.2_Missense_Mutation_p.G84E|MFRP_ENST00000555262.1_3'UTR|RP11-334E6.10_ENST00000501918.2_RNA|MFRP_ENST00000530681.1_3'UTR|C1QTNF5_ENST00000525657.1_5'UTR	NM_001278431.1	NP_001265360.1	Q9BXJ0	C1QT5_HUMAN	C1q and tumor necrosis factor related protein 5	84	Collagen-like.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TCCCGCCTCTCCTCGCGGCCC	0.786																																							0											0													3.0	4.0	3.0					11																	119210522		1306	2946	4252	SO:0001583	missense	0			AF329841	CCDS8420.1	11q23.3	2013-05-10				ENSG00000223953			14344	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 5"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 3"""	608752				12944416	Standard	NM_015645		Approved	CTRP5, DKFZp586B0621, LORD		Q9BXJ0	OTTHUMG00000166198	ENST00000528368.1:c.251G>A	11.37:g.119210522C>T	ENSP00000431140:p.Gly84Glu		A6NDD3|B0YJ35|Q335M2|Q8N6P2|Q9UFX4	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.G84E	ENST00000528368.1	37	c.251	CCDS8420.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.219668	0.95139	.	.	ENSG00000223953	ENST00000528368;ENST00000445041	D;D	0.99619	-6.28;-6.28	3.64	3.64	0.41730	.	0.000000	0.85682	U	0.000000	D	0.99664	0.9875	H	0.94345	3.525	0.80722	D	1	.	.	.	.	.	.	D	0.97432	1.0016	8	0.87932	D	0	.	13.6791	0.62472	0.0:1.0:0.0:0.0	.	.	.	.	E	84	ENSP00000431140:G84E;ENSP00000402389:G84E	ENSP00000402389:G84E	G	-	2	0	C1QTNF5	118715732	0.994000	0.37717	1.000000	0.80357	0.936000	0.57629	4.482000	0.60257	1.862000	0.54008	0.313000	0.20887	GGA	0	pfam_Collagen		0.786	C1QTNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF5	protein_coding	OTTHUMT00000388354.1	11	10	0	0.00	0	0	C	NM_015645	0	0		119210522	-1	no_errors	ENST00000445041	ensembl	human	known	74_37	missense	8	9	27.27	40.00	3	6	SNP	1	T
CACNA1H	8912	genome.wustl.edu	37	16	1250488	1250488	+	Missense_Mutation	SNP	G	G	A			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr16:1250488G>A	ENST00000348261.5	+	7	1284	c.1036G>A	c.(1036-1038)Gtg>Atg	p.V346M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V346M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V346M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	346					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GTACTACAACGTGTGCCGCTC	0.637																																							0											0													55.0	61.0	59.0					16																	1250488		2145	4228	6373	SO:0001583	missense	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1036G>A	16.37:g.1250488G>A	ENSP00000334198:p.Val346Met		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.V346M	ENST00000348261.5	37	c.1036	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130697	0.77549	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96745	-4.11;-4.06	4.4	4.4	0.53042	Ion transport (1);	0.262244	0.30584	N	0.009305	D	0.96046	0.8712	L	0.48642	1.525	0.25707	N	0.985525	D;D	0.69078	0.996;0.997	P;P	0.58780	0.759;0.845	D	0.91061	0.4885	10	0.51188	T	0.08	.	11.7386	0.51780	0.0892:0.0:0.9108:0.0	.	346;346	O95180-2;O95180	.;CAC1H_HUMAN	M	346	ENSP00000334198:V346M;ENSP00000351401:V346M	ENSP00000334198:V346M	V	+	1	0	CACNA1H	1190489	0.016000	0.18221	1.000000	0.80357	0.992000	0.81027	1.469000	0.35343	2.275000	0.75901	0.586000	0.80456	GTG	0	pfam_Ion_trans_dom		0.637	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	protein_coding	OTTHUMT00000421601.1	57	51	0	0.00	0	0	G	NM_001005407	0	0		1250488	1	no_errors	ENST00000348261	ensembl	human	known	74_37	missense	45	100	47.67	45.11	41	83	SNP	1	A
DNAH3	55567	genome.wustl.edu	37	16	21065834	21065834	+	Missense_Mutation	SNP	C	C	T			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr16:21065834C>T	ENST00000261383.3	-	28	3945	c.3946G>A	c.(3946-3948)Gat>Aat	p.D1316N	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1316N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1316	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.D1316H(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCAATCTGATCATTGCTCTTT	0.532																																							0											2	Substitution - Missense(2)	lung(2)											74.0	61.0	65.0					16																	21065834		2201	4300	6501	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3946G>A	16.37:g.21065834C>T	ENSP00000261383:p.Asp1316Asn		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.D1316N	ENST00000261383.3	37	c.3946	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307949	0.23821	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.61627	0.09;0.09	5.78	1.48	0.22813	.	0.968178	0.08547	N	0.929689	T	0.39937	0.1097	L	0.31065	0.9	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.24012	-1.0172	10	0.18276	T	0.48	.	5.2501	0.15517	0.0:0.2995:0.378:0.3224	.	1316	Q8TD57	DYH3_HUMAN	N	1316	ENSP00000261383:D1316N;ENSP00000394245:D1316N	ENSP00000261383:D1316N	D	-	1	0	DNAH3	20973335	0.000000	0.05858	0.882000	0.34594	0.996000	0.88848	-0.143000	0.10296	0.909000	0.36697	0.591000	0.81541	GAT	0	superfamily_P-loop_NTPase		0.532	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	protein_coding	OTTHUMT00000207361.1	36	44	0	0.00	0	0	C	NM_017539	0	0		21065834	-1	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	33	91	34	28.91	17	37	SNP	0.001	T
ITGAE	3682	genome.wustl.edu	37	17	3651341	3651341	+	Missense_Mutation	SNP	C	C	T			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr17:3651341C>T	ENST00000263087.4	-	17	2128	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	677					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AACCACAGGCCGGGAGCTAAA	0.542																																					NSCLC(182;635 2928 8995 38788)		0											0													57.0	54.0	55.0					17																	3651341		2203	4300	6503	SO:0001583	missense	0			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2030G>A	17.37:g.3651341C>T	ENSP00000263087:p.Arg677Gln		Q17RS6|Q9NZU9	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A	p.R677Q	ENST00000263087.4	37	c.2030	CCDS32531.1	17	.	.	.	.	.	.	.	.	.	.	C	8.939	0.965242	0.18583	.	.	ENSG00000083457	ENST00000263087	T	0.68181	-0.31	4.68	1.58	0.23477	Integrin alpha-2 (1);	.	.	.	.	T	0.68210	0.2976	M	0.76002	2.32	0.27345	N	0.956396	D	0.61697	0.99	P	0.51101	0.659	T	0.58086	-0.7698	9	0.19147	T	0.46	.	7.3831	0.26868	0.0:0.7202:0.0:0.2798	.	677	P38570	ITAE_HUMAN	Q	677	ENSP00000263087:R677Q	ENSP00000263087:R677Q	R	-	2	0	ITGAE	3598090	0.856000	0.29760	0.916000	0.36221	0.800000	0.45204	0.061000	0.14366	0.281000	0.22233	-0.145000	0.13849	CGG	0	pfam_Integrin_alpha-2,smart_Int_alpha_beta-p,prints_Integrin_alpha		0.542	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	protein_coding	OTTHUMT00000438169.1	22	15	0	0.00	0	0	C	NM_002208	0	0		3651341	-1	no_errors	ENST00000263087	ensembl	human	known	74_37	missense	13	78	56.67	43.07	17	59	SNP	0.966	T
LRRC37A3	374819	genome.wustl.edu	37	17	62855863	62855863	+	Silent	SNP	C	C	T	rs369882842		TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr17:62855863C>T	ENST00000584306.1	-	11	4931	c.4401G>A	c.(4399-4401)tcG>tcA	p.S1467S	LRRC37A3_ENST00000334962.5_Silent_p.S444S|LRRC37A3_ENST00000339474.5_Silent_p.S585S|LRRC37A3_ENST00000400877.3_Silent_p.S505S|LRRC37A3_ENST00000319651.5_Silent_p.S1467S	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1467						integral component of membrane (GO:0016021)		p.S1467S(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CACCTGGGGACGAGAGCAATG	0.488													-|||	1	0.000199681	0.0	0.0	5008	,	,		19098	0.001		0.0	False		,,,				2504	0.0						0.9998,0.0001997											2	Substitution - coding silent(2)	large_intestine(1)|lung(1)						C		1,4405		0,1,2202	136.0	142.0	140.0		4401	-1.7	0.0	17		140	2,8594		0,2,4296	no	coding-synonymous	LRRC37A3	NM_199340.2		0,3,6498	TT,TC,CC		0.0233,0.0227,0.0231		1467/1635	62855863	3,12999	2203	4298	6501	SO:0001819	synonymous_variant	0			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4401G>A	17.37:g.62855863C>T			Q49A01|Q49A80|Q8NB33	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S1467	ENST00000584306.1	37	c.4401	CCDS32708.1	17																																																																																			0	NULL		0.488	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	protein_coding	OTTHUMT00000445377.1	77	11	0	0.00	0	0	C	NM_199340	rs369882842	C->T		62855863	-1	no_errors	ENST00000319651	ensembl	human	known	74_37	silent	46	22	53.54	48.84	53	21	SNP	0	T
HSPB6	126393	genome.wustl.edu	37	19	36244105	36244105	+	IGR	SNP	G	G	A	rs199605769		TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr19:36244105G>A	ENST00000592984.1	-	0	1634				AC002398.9_ENST00000591613.2_3'UTR|LIN37_ENST00000301159.9_Missense_Mutation_p.R132H|AC002398.11_ENST00000591091.1_RNA|AC002398.12_ENST00000587767.1_RNA			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGCGCGAGCGTGAATGCTCT	0.667																																							0											0													22.0	27.0	26.0					19																	36244105		2080	4204	6284	SO:0001628	intergenic_variant	0			AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"""Heat shock proteins / HSPB"""	26511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 91"""	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36244105G>A			O14551|Q6NVI3|Q96MG9	Missense_Mutation	SNP	NULL	p.R132H	ENST00000592984.1	37	c.395	CCDS12475.1	19	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908762	0.33721	.	.	ENSG00000188223	ENST00000301159	T	0.47528	0.84	4.92	-1.46	0.08800	.	0.522411	0.19551	N	0.111573	T	0.35537	0.0935	L	0.57536	1.79	0.25057	N	0.991099	B	0.06786	0.001	B	0.01281	0.0	T	0.22695	-1.0209	10	0.44086	T	0.13	-16.0794	4.641	0.12548	0.3746:0.3242:0.3012:0.0	.	132	Q96GY3	LIN37_HUMAN	H	132	ENSP00000301159:R132H	ENSP00000301159:R132H	R	+	2	0	LIN37	40935945	0.060000	0.20803	0.109000	0.21407	0.867000	0.49689	0.467000	0.22035	0.014000	0.14944	0.561000	0.74099	CGT	0	NULL		0.667	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN37	protein_coding	OTTHUMT00000109498.3	17	17	0	0.00	0	0	G	NM_144617	rs199605769	G->A		36244105	1	no_errors	ENST00000301159	ensembl	human	known	74_37	missense	18	33	61.7	34.00	29	17	SNP	0.003	A
Unknown	0	genome.wustl.edu	37	22	49834789	49834789	+	IGR	SNP	C	C	T			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr22:49834789C>T								C22orf34 (15703 upstream) : MIR3667 (102251 downstream)																							cttcctcccacgtcctgtccg	0.602																																							0											0																																										SO:0001628	intergenic_variant	0																															22.37:g.49834789C>T				Missense_Mutation	SNP	NULL	p.R43H		37	c.128		22																																																																																			0	NULL	0	0.602					C22orf34			16	31	0	0.00	0	0	C		0	0		49834789	-1	no_errors	ENST00000414287	ensembl	human	known	74_37	missense	25	69	47.92	43.44	23	53	SNP	0	T
LRIG2	9860	genome.wustl.edu	37	1	113667282	113667283	+	3'UTR	INS	-	-	T			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr1:113667282_113667283insT	ENST00000361127.5	+	0	3955_3956				LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2						innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		ATTCTTGTGAATTTTTTTTTTT	0.366																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.*560->T	1.37:g.113667293_113667293dupT			Q9NSN2	RNA	INS	0	NULL	ENST00000361127.5	37	NULL	CCDS30808.1	1																																																																																			0	0		0.366	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	protein_coding	OTTHUMT00000033549.2	13	51	0	1.92	0	1	0	NM_014813	0	0		113667283	1	no_errors	ENST00000466161	ensembl	human	known	74_37	rna	14	178	17.65	6.81	3	13	INS	0.029:0.014	T
TENM4	26011	genome.wustl.edu	37	11	78600855	78600856	+	Frame_Shift_Ins	INS	-	-	A			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr11:78600855_78600856insA	ENST00000278550.7	-	9	1520_1521	c.1058_1059insT	c.(1057-1059)ctgfs	p.L353fs		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	353					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GCAGGATGACCAGAGTGGCTGA	0.599																																							0											0																																										SO:0001589	frameshift_variant	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.1059dupT	11.37:g.78600856_78600856dupA	ENSP00000278550:p.Leu353fs		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Frame_Shift_Ins	INS	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.V354fs	ENST00000278550.7	37	c.1059_1058	CCDS44688.1	11																																																																																			0	NULL		0.599	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	protein_coding	OTTHUMT00000391406.2	24	24	0	0.00	0	0	0		0	0		78600856	-1	no_errors	ENST00000278550	ensembl	human	known	74_37	frame_shift_ins	24	70	33.33	39.66	12	46	INS	0.997:1.000	A
TUBBP5	643224	genome.wustl.edu	37	9	141069468	141069468	+	RNA	SNP	C	C	G			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr9:141069468C>G	ENST00000503395.1	+	0	1023									tubulin, beta pseudogene 5																		TCGCGCTTCTCCTGCCGCCCT	0.677																																							0											0																																												0			AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141069468C>G				RNA	SNP	0	NULL	ENST00000503395.1	37	NULL		9																																																																																			0	0		0.677	TUBBP5-003	KNOWN	basic	processed_transcript	TUBBP5	pseudogene	OTTHUMT00000373087.1	37	1	2.63	0.00	1	0	C	NR_027156	0	0		141069468	1	no_errors	ENST00000290377	ensembl	human	known	74_37	rna	40	8	9.09	0.00	4	0	SNP	0.006	G
TRIM29	23650	genome.wustl.edu	37	11	120040750	120040750	+	Missense_Mutation	SNP	G	G	T			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chr11:120040750G>T	ENST00000319763.1	+	2	444	c.233G>T	c.(232-234)cGc>cTc	p.R78L																								GGCGGCTGCCGCTGTGGAAGT	0.701																																							0											0																																										SO:0001583	missense	0																														ENST00000319763.1:c.233G>T	11.37:g.120040750G>T	ENSP00000316101:p.Arg78Leu			Missense_Mutation	SNP	NULL	p.R78L	ENST00000319763.1	37	c.233		11	.	.	.	.	.	.	.	.	.	.	G	4.819	0.152285	0.09185	.	.	ENSG00000176984	ENST00000319763	.	.	.	2.92	-0.131	0.13494	.	.	.	.	.	T	0.24509	0.0594	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26780	-1.0093	4	.	.	.	.	5.4656	0.16642	0.2262:0.1695:0.6043:0.0	.	.	.	.	L	78	.	.	R	+	2	0	AP000679.2	119545960	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.522000	0.06237	-0.299000	0.08909	-2.018000	0.00433	CGC	0	NULL		0.701	AP000679.2-001	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000176984	protein_coding	OTTHUMT00000388035.3	25	1	0	0.00	0	0	G		0	0		120040750	1	no_errors	ENST00000319763	ensembl	human	putative	74_37	missense	38	5	9.52	0.00	4	0	SNP	0	T
MXRA5	25878	genome.wustl.edu	37	X	3235496	3235496	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XM-AAZ3-01A-11D-A423-09	TCGA-XM-AAZ3-12A-01D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f21af09f-3063-4aa5-9898-97fc8138ce80	68c3e9a2-d94c-4801-b1c2-2e8ca066312b	g.chrX:3235496delG	ENST00000217939.6	-	6	6380	c.6226delC	c.(6226-6228)ctgfs	p.L2076fs		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2076	Ig-like C2-type 5.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACGCTGGGCAGGGGCGCAGCC	0.642																																							0											0													26.0	22.0	24.0					X																	3235496		2182	4276	6458	SO:0001589	frameshift_variant	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6226delC	X.37:g.3235496delG	ENSP00000217939:p.Leu2076fs		Q6P1M7|Q9Y3Y8	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L2076fs	ENST00000217939.6	37	c.6226	CCDS14124.1	X																																																																																			0	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.642	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	protein_coding	OTTHUMT00000055655.2	22	1	0	0.00	0	0	G	NM_015419	0	0		3235496	-1	no_errors	ENST00000217939	ensembl	human	known	74_37	frame_shift_del	23	5	8	0.00	2	0	DEL	0.009	0
