#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56.0	51.0	53.0		2645,2078,2645	5.7	1.0	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	Somatic	149	11.83	20		21	55.10	27	WXS	Illumina HiSeq	Phase_IV	25310746	89	47.34	80	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
EVA1A	84141	genome.wustl.edu	37	2	75720722	75720722	+	Silent	SNP	T	T	C			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr2:75720722T>C	ENST00000233712.1	-	4	536	c.99A>G	c.(97-99)cgA>cgG	p.R33R	EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410113.1_Silent_p.R33R|EVA1A_ENST00000410010.1_Silent_p.R21R|EVA1A_ENST00000410071.1_Silent_p.R33R|EVA1A_ENST00000393913.3_Silent_p.R33R	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	33	Necessary for the localization and biological activity.				apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											ACAGAGCTGCTCGCTCAGGAT	0.517																																						dbGAP											0			2											26.0	25.0	25.0					2																	75720722		2203	4300	6503	75574230	SO:0001819	synonymous_variant	0			BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.99A>G	2.37:g.75720722T>C		Somatic	122	11.51	16		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	75574230	141	42.75	109	D6W5J3|Q9HC41	Silent	SNP	NULL	p.R33	ENST00000233712.1	37	c.99	CCDS1959.1	2																																																																																			-	NULL		0.517	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM176A	protein_coding	OTTHUMT00000328707.1	T	NM_032181		75574230	-1	no_errors	NM_032181.1	genbank	human	validated	54_36p	silent	SNP	0.991	C
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81.0	74.0	76.0					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	Somatic	67	15.00	12		73	52.29	80	WXS	Illumina HiSeq	Phase_IV	208821358	63	47.11	57	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
FN1	2335	genome.wustl.edu	37	2	216238072	216238072	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr2:216238072C>A	ENST00000359671.1	-	38	6212	c.5947G>T	c.(5947-5949)Gag>Tag	p.E1983*	FN1_ENST00000346544.3_Nonsense_Mutation_p.E1983*|FN1_ENST00000354785.4_Nonsense_Mutation_p.E2074*|FN1_ENST00000357009.2_Nonsense_Mutation_p.E1983*|FN1_ENST00000323926.6_Nonsense_Mutation_p.E2074*|FN1_ENST00000356005.4_Nonsense_Mutation_p.E1893*|FN1_ENST00000336916.4_Nonsense_Mutation_p.E1983*|FN1_ENST00000432072.2_Nonsense_Mutation_p.E1984*|FN1_ENST00000421182.1_Nonsense_Mutation_p.E1893*|FN1_ENST00000345488.5_Nonsense_Mutation_p.E1983*|FN1_ENST00000357867.4_Nonsense_Mutation_p.E1893*|FN1_ENST00000446046.1_Nonsense_Mutation_p.E1983*|FN1_ENST00000443816.1_Nonsense_Mutation_p.E1893*			P02751	FINC_HUMAN	fibronectin 1	1983	Binds to FBLN1.|Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ATCAGGGGCTCGCTCTTCTGA	0.408																																						dbGAP											0			2											184.0	186.0	185.0					2																	216238072		2203	4300	6503	215946317	SO:0001587	stop_gained	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5947G>T	2.37:g.216238072C>A	ENSP00000352696:p.Glu1983*	Somatic	432	11.02	54		1	50.00	1	WXS	Illumina HiSeq	Phase_IV	215946317	143	40.89	101	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Nonsense_Mutation	SNP	HMMPfam_fn1,HMMSmart_SM00058,PatternScan_FN1_1,HMMPfam_fn2,HMMSmart_SM00059,PatternScan_FN2_1,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_EGF_1,superfamily_Kringle-like,PatternScan_ALDEHYDE_DEHYDR_GLU,superfamily_Fibronectin type I module	p.E2074*	ENST00000359671.1	37	c.6220		2	.	.	.	.	.	.	.	.	.	.	C	49	15.170673	0.99824	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923;ENST00000438981	.	.	.	6.17	6.17	0.99709	.	0.075887	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	1893;2074;1983;1893;2074;1984;1983;1983;1983;1983;1983;1893;1984;1893;700;102	.	ENSP00000265313:E1984X	E	-	1	0	FN1	215946317	0.995000	0.38212	1.000000	0.80357	0.982000	0.71751	2.923000	0.48868	2.941000	0.99782	0.655000	0.94253	GAG	-	HMMSmart_SM00060,superfamily_Fibronectin type III		0.408	FN1-204	KNOWN	basic	protein_coding	FN1	protein_coding		C	NM_212476		215946317	-1	no_errors	NM_212482.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
ZMYND10	51364	genome.wustl.edu	37	3	50380814	50380814	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr3:50380814A>C	ENST00000231749.3	-	5	1706	c.434T>G	c.(433-435)cTg>cGg	p.L145R	RASSF1_ENST00000488024.1_5'Flank|RASSF1_ENST00000357043.2_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Missense_Mutation_p.L145R|ZMYND10_ENST00000490675.1_5'Flank|RASSF1_ENST00000359365.4_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	145					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGCAGGGTCAGTTTGCGGTG	0.582										TSP Lung(30;0.18)																												dbGAP											0			3											86.0	85.0	85.0					3																	50380814		2203	4300	6503	50355818	SO:0001583	missense	0			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.434T>G	3.37:g.50380814A>C	ENSP00000231749:p.Leu145Arg	Somatic	123	6.82	9		0	100.00	2	WXS	Illumina HiSeq	Phase_IV	50355818	68	40.34	48	A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	HMMPfam_zf-MYND,PatternScan_ZF_MYND_1	p.L145R	ENST00000231749.3	37	c.434	CCDS2825.1	3	.	.	.	.	.	.	.	.	.	.	A	22.6	4.314840	0.81358	.	.	ENSG00000004838	ENST00000231749;ENST00000360165;ENST00000442887	T;T;T	0.35605	1.3;1.3;1.3	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.65101	0.2659	M	0.86420	2.815	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.72737	-0.4203	10	0.87932	D	0	-11.5393	14.9974	0.71443	1.0:0.0:0.0:0.0	.	145;145	O75800-2;O75800	.;ZMY10_HUMAN	R	145;145;102	ENSP00000231749:L145R;ENSP00000353289:L145R;ENSP00000393687:L102R	ENSP00000231749:L145R	L	-	2	0	ZMYND10	50355818	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.332000	0.96446	1.955000	0.56771	0.459000	0.35465	CTG	-	NULL		0.582	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZMYND10	protein_coding	OTTHUMT00000346376.1	A	NM_015896		50355818	-1	no_errors	NM_015896.2	genbank	human	validated	54_36p	missense	SNP	1.000	C
HCLS1	3059	genome.wustl.edu	37	3	121377178	121377178	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr3:121377178A>C	ENST00000314583.3	-	2	108	c.17T>G	c.(16-18)gTg>gGg	p.V6G	HCLS1_ENST00000428394.2_Missense_Mutation_p.V6G|RNU4-62P_ENST00000410125.1_RNA	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	6					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		ATCATGGCCCACTACAGACTT	0.463																																						dbGAP											0			3											176.0	157.0	164.0					3																	121377178		2203	4300	6503	122859868	SO:0001583	missense	0				CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.17T>G	3.37:g.121377178A>C	ENSP00000320176:p.Val6Gly	Somatic	376	6.86	28		54	33.33	27	WXS	Illumina HiSeq	Phase_IV	122859868	181	40.72	125	B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_HS1_rep	p.V6G	ENST00000314583.3	37	c.17	CCDS3003.1	3	.	.	.	.	.	.	.	.	.	.	A	18.25	3.581744	0.65992	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.24538	1.85;1.85	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	M	0.70595	2.14	0.80722	D	1	B;D;D	0.89917	0.044;0.982;1.0	B;P;D	0.73708	0.039;0.683;0.981	T	0.49844	-0.8896	10	0.87932	D	0	-15.2178	11.0072	0.47641	1.0:0.0:0.0:0.0	.	6;6;6	B4DTP2;E7EVW7;P14317	.;.;HCLS1_HUMAN	G	6	ENSP00000320176:V6G;ENSP00000387645:V6G	ENSP00000320176:V6G	V	-	2	0	HCLS1	122859868	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.078000	0.57606	2.097000	0.63578	0.528000	0.53228	GTG	-	NULL		0.463	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCLS1	protein_coding	OTTHUMT00000355144.1	A	NM_005335		122859868	-1	no_errors	NM_005335.4	genbank	human	validated	54_36p	missense	SNP	1.000	C
MCHR2	84539	genome.wustl.edu	37	6	100390958	100390958	+	Missense_Mutation	SNP	G	G	A	rs267600747		TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr6:100390958G>A	ENST00000281806.2	-	4	768	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	MCHR2_ENST00000369212.2_Missense_Mutation_p.R152W	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	152			R -> Q (no changes in receptor binding or functional signaling; dbSNP:rs62434070). {ECO:0000269|PubMed:15340116}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAATTGATCCGGATGGTCTTG	0.473																																						dbGAP											0			6											147.0	137.0	141.0					6																	100390958		2203	4300	6503	100497679	SO:0001583	missense	0			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.454C>T	6.37:g.100390958G>A	ENSP00000281806:p.Arg152Trp	Somatic	164	8.89	16		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	100497679	82	46.79	73	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.R152W	ENST00000281806.2	37	c.454	CCDS5044.1	6	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890903	0.33348	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.72282	-0.64;-0.64;-0.64	4.95	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.385573	0.22790	N	0.055620	T	0.45458	0.1343	L	0.59912	1.85	0.22656	N	0.998884	B	0.16603	0.018	B	0.13407	0.009	T	0.46884	-0.9159	10	0.51188	T	0.08	.	9.5126	0.39087	0.2389:0.0:0.7611:0.0	.	152	Q969V1	MCHR2_HUMAN	W	152	ENSP00000403490:R152W;ENSP00000281806:R152W;ENSP00000358214:R152W	ENSP00000281806:R152W	R	-	1	2	MCHR2	100497679	0.214000	0.23563	0.687000	0.30102	0.878000	0.50629	0.214000	0.17541	0.144000	0.18951	0.655000	0.94253	CGG	-	HMMPfam_7tm_1,superfamily_SSF81321		0.473	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	protein_coding	OTTHUMT00000041620.2	G	NM_032503		100497679	-1	no_errors	NM_001040179.1	genbank	human	validated	54_36p	missense	SNP	0.979	A
EGFR	1956	genome.wustl.edu	37	7	55273099	55273099	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr7:55273099C>G	ENST00000275493.2	+	28	3599	c.3422C>G	c.(3421-3423)aCt>aGt	p.T1141S	EGFR_ENST00000454757.2_Missense_Mutation_p.T1088S|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1141					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|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 fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TATCTCAACACTGTCCAGCCC	0.597		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												dbGAP	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0			7											111.0	88.0	96.0					7																	55273099		2203	4300	6503	55240593	SO:0001583	missense	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3422C>G	7.37:g.55273099C>G	ENSP00000275493:p.Thr1141Ser	Somatic	269	9.06	27		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	55240593	107	36.99	64	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	HMMPfam_Recep_L_domain,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Furin-like,HMMSmart_SM00261,PatternScan_PROTEIN_KINASE_TYR,superfamily_Growth factor receptor domain,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,superfamily_L domain-like	p.T1141S	ENST00000275493.2	37	c.3422	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	C	1.030	-0.682258	0.03353	.	.	ENSG00000146648	ENST00000395504;ENST00000275493;ENST00000454757	T;T	0.73469	-0.74;-0.75	5.19	4.3	0.51218	.	0.368747	0.33515	N	0.004823	T	0.70237	0.3201	M	0.72118	2.19	0.29304	N	0.868513	P	0.49559	0.925	B	0.42062	0.374	T	0.67373	-0.5687	10	0.07482	T	0.82	.	14.8684	0.70434	0.0:0.8554:0.1446:0.0	.	1141	P00533	EGFR_HUMAN	S	1011;1141;1088	ENSP00000275493:T1141S;ENSP00000395243:T1088S	ENSP00000275493:T1141S	T	+	2	0	EGFR	55240593	0.986000	0.35501	0.753000	0.31225	0.033000	0.12548	4.470000	0.60175	1.302000	0.44855	0.558000	0.71614	ACT	-	NULL		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	protein_coding	OTTHUMT00000251456.2	C	NM_005228		55240593	+1	no_errors	NM_005228.3	genbank	human	reviewed	54_36p	missense	SNP	0.763	G
RAB11FIP1	80223	genome.wustl.edu	37	8	37732412	37732412	+	Missense_Mutation	SNP	C	C	T	rs140686896	byFrequency	TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr8:37732412C>T	ENST00000330843.4	-	3	1255	c.1243G>A	c.(1243-1245)Gca>Aca	p.A415T	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.A415T|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.A267T|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.A267T	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	415					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCTGAGTTTGCGGGGGCCATG	0.557																																						dbGAP											0			8						C	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	62.0	60.0	61.0		1243,1243	4.9	0.0	8	dbSNP_134	61	0,8600		0,0,4300	no	missense,missense	RAB11FIP1	NM_001002814.2,NM_025151.4	58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	415/1284,415/650	37732412	2,13004	2203	4300	6503	37851570	SO:0001583	missense	0			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1243G>A	8.37:g.37732412C>T	ENSP00000331342:p.Ala415Thr	Somatic	502	6.81	37		34	34.62	18	WXS	Illumina HiSeq	Phase_IV	37851570	372	24.60	123	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_RBD-FIP	p.A415T	ENST00000330843.4	37	c.1243	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749665	0.30955	4.54E-4	0.0	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.31769	2.23;2.68;1.5;1.48	4.91	4.91	0.64330	.	0.602245	0.15777	N	0.245104	T	0.25644	0.0624	M	0.70595	2.14	0.09310	N	1	B;P;P;P	0.48640	0.089;0.759;0.907;0.913	B;B;B;B	0.31495	0.004;0.061;0.131;0.121	T	0.31696	-0.9934	10	0.23302	T	0.38	-5.0172	10.3231	0.43777	0.1316:0.6563:0.2121:0.0	.	267;267;415;415	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	T	415;415;267;267	ENSP00000287263:A415T;ENSP00000331342:A415T;ENSP00000430009:A267T;ENSP00000430680:A267T	ENSP00000287263:A415T	A	-	1	0	RAB11FIP1	37851570	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.327000	0.19663	2.264000	0.75181	0.563000	0.77884	GCA	-	NULL		0.557	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	protein_coding	OTTHUMT00000376816.1	C	NM_025151		37851570	-1	no_errors	NM_001002814.1	genbank	human	validated	54_36p	missense	SNP	0.003	T
MTA2	9219	genome.wustl.edu	37	11	62364143	62364143	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr11:62364143T>C	ENST00000278823.2	-	9	1237	c.848A>G	c.(847-849)tAt>tGt	p.Y283C	MTA2_ENST00000524902.1_Missense_Mutation_p.Y110C|MTA2_ENST00000527204.1_Missense_Mutation_p.Y110C	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	283	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTCCTTCCCATACTTCTCTAG	0.562																																						dbGAP											0			11											100.0	99.0	99.0					11																	62364143		2202	4299	6501	62120719	SO:0001583	missense	0			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.848A>G	11.37:g.62364143T>C	ENSP00000278823:p.Tyr283Cys	Somatic	812	7.88	70		77	45.00	63	WXS	Illumina HiSeq	Phase_IV	62120719	136	42.50	102	Q68DB1|Q9UQB5	Missense_Mutation	SNP	HMMPfam_GATA,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,HMMPfam_ELM2,HMMSmart_SANT,HMMPfam_BAH,HMMSmart_BAH,HMMPfam_Myb_DNA-binding,superfamily_SSF57716	p.Y283C	ENST00000278823.2	37	c.848	CCDS8022.1	11	.	.	.	.	.	.	.	.	.	.	T	21.1	4.091290	0.76756	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.47177	0.85;0.85;0.85	5.69	5.69	0.88448	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.68044	0.2958	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.71876	-0.4460	10	0.72032	D	0.01	-11.8152	13.8893	0.63729	0.0:0.0:0.0:1.0	.	283	O94776	MTA2_HUMAN	C	283;110;110	ENSP00000278823:Y283C;ENSP00000431346:Y110C;ENSP00000431797:Y110C	ENSP00000278823:Y283C	Y	-	2	0	MTA2	62120719	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	8.031000	0.88826	2.163000	0.67991	0.459000	0.35465	TAT	-	HMMSmart_SANT,HMMPfam_Myb_DNA-binding		0.562	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTA2	protein_coding	OTTHUMT00000395578.1	T	NM_004739		62120719	-1	no_errors	NM_004739.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
CCDC67	159989	genome.wustl.edu	37	11	93127747	93127747	+	Silent	SNP	A	A	G			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr11:93127747A>G	ENST00000298050.3	+	10	1264	c.1164A>G	c.(1162-1164)acA>acG	p.T388T	CCDC67_ENST00000525646.1_Silent_p.T130T	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	388					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CAACTGTCACAAAGAAAGCTG	0.373																																						dbGAP											0			11											71.0	62.0	65.0					11																	93127747		1842	4087	5929	92767395	SO:0001819	synonymous_variant	0			AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.1164A>G	11.37:g.93127747A>G		Somatic	121	9.70	13		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	92767395	91	42.50	68	Q8NEF1|Q96LL7	Silent	SNP	NULL	p.T388	ENST00000298050.3	37	c.1164	CCDS44707.1	11																																																																																			-	NULL		0.373	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC67	protein_coding		A	NM_181645		92767395	+1	no_errors	NM_181645.3	genbank	human	validated	54_36p	silent	SNP	1.000	G
SMAD9	4093	genome.wustl.edu	37	13	37446969	37446969	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr13:37446969G>A	ENST00000399275.2	-	2	635	c.496C>T	c.(496-498)Cac>Tac	p.H166Y	SMAD9_ENST00000350148.5_Missense_Mutation_p.H166Y|SMAD9_ENST00000379826.4_Missense_Mutation_p.H166Y			O15198	SMAD9_HUMAN	SMAD family member 9	166					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GGCTCACTGTGCAGGGAGGCG	0.592																																						dbGAP											0			13											145.0	124.0	131.0					13																	37446969		2203	4300	6503	36344969	SO:0001583	missense	0				CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.496C>T	13.37:g.37446969G>A	ENSP00000382216:p.His166Tyr	Somatic	510	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	36344969	315	14.56	54	A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	HMMPfam_MH2,HMMSmart_SM00524,HMMPfam_MH1,HMMSmart_SM00523,superfamily_SMAD/FHA domain,superfamily_SMAD MH1 domain	p.H166Y	ENST00000399275.2	37	c.496	CCDS45032.1	13	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351028	0.41599	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.94330	-3.4;-3.38;-3.4	5.24	4.38	0.52667	.	0.044308	0.85682	D	0.000000	D	0.88829	0.6543	L	0.49126	1.545	0.51767	D	0.999934	B;B	0.27700	0.007;0.186	B;B	0.29663	0.062;0.105	T	0.82333	-0.0509	10	0.07990	T	0.79	.	10.3054	0.43678	0.0:0.1471:0.7002:0.1527	.	166;166	O15198-2;O15198	.;SMAD9_HUMAN	Y	166	ENSP00000382216:H166Y;ENSP00000239885:H166Y;ENSP00000369154:H166Y	ENSP00000239885:H166Y	H	-	1	0	SMAD9	36344969	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.305000	0.65750	1.313000	0.45069	0.563000	0.77884	CAC	-	NULL		0.592	SMAD9-002	KNOWN	basic|CCDS	protein_coding	SMAD9	protein_coding	OTTHUMT00000044525.2	G	NM_005905		36344969	-1	no_errors	NM_005905.1	genbank	human	validated	54_36p	missense	SNP	1.000	A
SLCO3A1	28232	genome.wustl.edu	37	15	92671620	92671620	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr15:92671620C>G	ENST00000318445.6	+	7	1627	c.1413C>G	c.(1411-1413)tgC>tgG	p.C471W	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.C471W	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	471	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	ACTCGCCCTGCAATAATAACT	0.537																																						dbGAP											0			15											207.0	170.0	182.0					15																	92671620		2198	4298	6496	90472624	SO:0001583	missense	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1413C>G	15.37:g.92671620C>G	ENSP00000320634:p.Cys471Trp	Somatic	626	9.87	69		32	47.54	29	WXS	Illumina HiSeq	Phase_IV	90472624	254	45.51	218	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors	p.C471W	ENST00000318445.6	37	c.1413	CCDS10371.1	15	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145348	0.57044	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.62232	0.04;0.04	5.46	5.46	0.80206	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.84777	0.5547	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.88258	0.2921	10	0.87932	D	0	.	19.3038	0.94153	0.0:1.0:0.0:0.0	.	413;471;471	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	W	471;471;190	ENSP00000320634:C471W;ENSP00000387846:C471W	ENSP00000320634:C471W	C	+	3	2	SLCO3A1	90472624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.472000	0.60189	2.569000	0.86673	0.655000	0.94253	TGC	-	HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors		0.537	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	protein_coding	OTTHUMT00000313529.1	C	NM_013272		90472624	+1	no_errors	NM_013272.1	genbank	human	validated	54_36p	missense	SNP	1.000	G
GPRC5B	51704	genome.wustl.edu	37	16	19883344	19883344	+	Missense_Mutation	SNP	G	G	A	rs149281124	byFrequency	TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr16:19883344G>A	ENST00000300571.2	-	2	1015	c.824C>T	c.(823-825)aCg>aTg	p.T275M	GPRC5B_ENST00000535671.1_Missense_Mutation_p.T275M|GPRC5B_ENST00000537135.1_Missense_Mutation_p.T301M|GPRC5B_ENST00000569479.1_Missense_Mutation_p.T275M|GPRC5B_ENST00000569847.1_Missense_Mutation_p.T275M	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	275					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGCCGCCAGCGTGATGGCCAA	0.612																																						dbGAP											0			16						G	MET/THR	0,4394		0,0,2197	66.0	72.0	70.0		824	5.2	1.0	16	dbSNP_134	70	3,8597	3.0+/-9.4	0,3,4297	yes	missense	GPRC5B	NM_016235.1	81	0,3,6494	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	275/404	19883344	3,12991	2197	4300	6497	19790845	SO:0001583	missense	0			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.824C>T	16.37:g.19883344G>A	ENSP00000300571:p.Thr275Met	Somatic	220	5.11	12		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	19790845	92	46.86	82	D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3	p.T275M	ENST00000300571.2	37	c.824	CCDS10581.1	16	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	23.2	4.392247	0.83011	0.0	3.49E-4	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	D;D;D	0.88354	-2.37;-2.37;-2.37	5.18	5.18	0.71444	GPCR, family 3, C-terminal (1);	0.248616	0.40064	N	0.001191	D	0.90079	0.6901	L	0.36672	1.1	0.48040	D	0.999574	D;D	0.71674	0.998;0.996	P;P	0.58577	0.841;0.782	D	0.88680	0.3201	9	.	.	.	.	17.8587	0.88775	0.0:0.0:1.0:0.0	.	301;275	B7Z831;Q9NZH0	.;GPC5B_HUMAN	M	275;275;124;301	ENSP00000300571:T275M;ENSP00000442858:T275M;ENSP00000441775:T301M	.	T	-	2	0	GPRC5B	19790845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.610000	0.98337	2.688000	0.91661	0.655000	0.94253	ACG	-	HMMPfam_7tm_3		0.612	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5B	protein_coding	OTTHUMT00000254285.1	G			19790845	-1	no_errors	NM_016235.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
RNF213	57674	genome.wustl.edu	37	17	78320603	78320603	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr17:78320603G>A	ENST00000582970.1	+	29	8611	c.8468G>A	c.(8467-8469)cGg>cAg	p.R2823Q	RNF213_ENST00000508628.2_Missense_Mutation_p.R2872Q|RNF213_ENST00000336301.6_Missense_Mutation_p.R896Q	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2823					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R896Q(1)|p.R2872Q(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCACCTTCCGGCAGTGCGCC	0.617																																						dbGAP											2	Substitution - Missense(2)	prostate(2)	17											49.0	44.0	46.0					17																	78320603		2203	4300	6503	75935198	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8468G>A	17.37:g.78320603G>A	ENSP00000464087:p.Arg2823Gln	Somatic	77	11.36	10		25	59.68	37	WXS	Illumina HiSeq	Phase_IV	75935198	45	44.58	37	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	HMMSmart_SM00184,HMMSmart_SM00382,HMMPfam_zf-C3HC4,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_RING/U-box	p.R896Q	ENST00000582970.1	37	c.2687	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	9.239	1.037919	0.19669	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.29142	1.58	5.82	-5.84	0.02318	ATPase, AAA+ type, core (1);	0.299370	0.31392	N	0.007734	T	0.23133	0.0559	L	0.46157	1.445	0.20403	N	0.999903	B	0.22541	0.071	B	0.17433	0.018	T	0.12372	-1.0550	10	0.44086	T	0.13	.	15.8018	0.78458	0.3118:0.0:0.6882:0.0	.	896	Q63HN8	RN213_HUMAN	Q	2823;2872;896	ENSP00000338218:R896Q	ENSP00000338218:R896Q	R	+	2	0	RNF213	75935198	0.990000	0.36364	0.093000	0.20910	0.183000	0.23260	0.414000	0.21164	-0.874000	0.04027	-0.251000	0.11542	CGG	-	HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.617	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	G	NM_020914		75935198	+1	no_errors	NM_020914.3	genbank	human	validated	54_36p	missense	SNP	0.996	A
FKBP8	23770	genome.wustl.edu	37	19	18652593	18652593	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr19:18652593G>A	ENST00000596558.2	-	2	297	c.188C>T	c.(187-189)gCg>gTg	p.A63V	FKBP8_ENST00000597960.3_Missense_Mutation_p.A63V|FKBP8_ENST00000608443.1_Missense_Mutation_p.A63V|FKBP8_ENST00000222308.4_Missense_Mutation_p.A63V|FKBP8_ENST00000453489.2_Missense_Mutation_p.A92V|FKBP8_ENST00000610101.1_Missense_Mutation_p.A63V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	63	Glu-rich.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						AGCCTCCTCCGCCGGGGGTTG	0.662																																						dbGAP											0			19											26.0	26.0	26.0					19																	18652593		2203	4300	6503	18513593	SO:0001583	missense	0			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.188C>T	19.37:g.18652593G>A	ENSP00000472302:p.Ala63Val	Somatic	96	8.49	9		43	54.17	52	WXS	Illumina HiSeq	Phase_IV	18513593	37	39.34	24	C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	HMMPfam_FKBP_C,HMMPfam_TPR_1,superfamily_SSF48452,superfamily_SSF54534	p.A63V	ENST00000596558.2	37	c.188		19	.	.	.	.	.	.	.	.	.	.	g	0.042	-1.279956	0.01398	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.37411	1.2;1.94;1.44	4.07	-7.47	0.01365	.	1.682170	0.03831	N	0.269085	T	0.14098	0.0341	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23119	-1.0197	10	0.27785	T	0.31	1.3446	9.9114	0.41408	0.2269:0.0:0.6517:0.1214	.	92;63;63	B7Z6M0;Q14318;Q14318-2	.;FKBP8_HUMAN;.	V	63;63;92	ENSP00000222308:A63V;ENSP00000441267:A63V;ENSP00000388891:A92V	ENSP00000222308:A63V	A	-	2	0	FKBP8	18513593	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.060000	0.11712	-1.763000	0.01307	-1.924000	0.00514	GCG	-	NULL		0.662	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	FKBP8	protein_coding	OTTHUMT00000466374.3	G	NM_012181		18513593	-1	no_errors	NM_012181.3	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
SLPI	6590	genome.wustl.edu	37	20	43881786	43881786	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr20:43881786C>T	ENST00000338380.2	-	3	271	c.251G>A	c.(250-252)aGg>aAg	p.R84K		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	84	Elastase inhibitory domain.|WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				CCCAGGCTTCCTCCTTGCTGG	0.532																																					GBM(64;162 1089 31780 33427 34538)	dbGAP											0			20											91.0	82.0	85.0					20																	43881786		2203	4300	6503	43315200	SO:0001583	missense	0			X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"""WAP four-disulfide core domain containing"""	11092	protein-coding gene	gene with protein product	"""antileukoproteinase"""	107285	"""secretory leukocyte protease inhibitor (antileukoproteinase)"""			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.251G>A	20.37:g.43881786C>T	ENSP00000342082:p.Arg84Lys	Somatic	229	8.76	22		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	43315200	128	46.67	112	B2R5H8|P07757	Missense_Mutation	SNP	HMMPfam_WAP,HMMSmart_SM00217,superfamily_Elafin-like,PatternScan_4_DISULFIDE_CORE	p.R84K	ENST00000338380.2	37	c.251	CCDS13347.1	20	.	.	.	.	.	.	.	.	.	.	C	2.509	-0.313474	0.05422	.	.	ENSG00000124107	ENST00000338380	T	0.21361	2.01	5.04	-9.09	0.00717	Whey acidic protein, 4-disulphide core (3);	2.639780	0.01767	N	0.030942	T	0.05731	0.0150	N	0.02721	-0.515	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33420	-0.9869	10	0.02654	T	1	.	5.5693	0.17188	0.5521:0.2541:0.0:0.1938	.	84	P03973	SLPI_HUMAN	K	84	ENSP00000342082:R84K	ENSP00000342082:R84K	R	-	2	0	SLPI	43315200	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.339000	0.02652	-1.159000	0.02807	-0.302000	0.09304	AGG	-	superfamily_Elafin-like		0.532	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLPI	protein_coding	OTTHUMT00000080494.3	C			43315200	-1	no_errors	NM_003064.2	genbank	human	reviewed	54_36p	missense	SNP	0.002	T
CEBPA	1050	genome.wustl.edu	37	19	33792368	33792370	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	GTC	GTC	GTC	-	GTC	GTC	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr19:33792368_33792370delGTC	ENST00000498907.2	-	1	1100_1102	c.951_953delGAC	c.(949-954)ctgacc>ctc	p.T318del	CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	318	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.L317_T318ins13(3)|p.H200_K352>Q(1)|p.?(1)|p.L317_T318insS(1)|p.S319fs*11(1)|p.L317_T318insV(1)|p.L317_T318insL(1)|p.L317_T318insKVLEL(1)|p.L317_S319>L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					ATTGTCACTGGTCAGCTCCAGCA	0.655			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"""CCAAT/enhancer binding protein (C/EBP), alpha"""		L	11	Insertion - In frame(7)|Complex - deletion inframe(2)|Unknown(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(11)	19																																								38484210	SO:0001651	inframe_deletion	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"""basic leucine zipper proteins"""	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.951_953delGAC	19.37:g.33792368_33792370delGTC	ENSP00000427514:p.Thr318del	Somatic	0	3.45	1		0	45.71	32	WXS	Illumina HiSeq	Phase_IV	38484208	0	25.93	7	A7LNP2|P78319|Q05CA4	In_Frame_Del	DEL	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.T318in_frame_del	ENST00000498907.2	37	c.953_951	CCDS54243.1	19																																																																																			-	HMMSmart_BRLZ,HMMPfam_bZIP_2		0.655	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	GTC	NM_004364		38484210	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.992:0.993:0.994	-
