#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_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	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
KPRP	448834	genome.wustl.edu	37	1	152733801	152733801	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr1:152733801T>G	ENST00000606109.1	+	1	1765	c.1737T>G	c.(1735-1737)ttT>ttG	p.F579L	KPRP_ENST00000368773.1_Missense_Mutation_p.F579L			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	579						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCTTATTTTTAAAGGAAAG	0.478																																						dbGAP											0			1											36.0	38.0	37.0					1																	152733801		2203	4299	6502	151000425	SO:0001583	missense	0			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1737T>G	1.37:g.152733801T>G	ENSP00000475216:p.Phe579Leu	47	0.00	0		NA	NA	NA	151000425	76	34.48	40		Missense_Mutation	SNP	NULL	p.F579L	ENST00000606109.1	37	c.1737	CCDS30862.1	1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722431	0.48728	.	.	ENSG00000203786	ENST00000368773	T	0.14144	2.53	4.48	2.19	0.27852	.	0.000000	0.44285	D	0.000466	T	0.09024	0.0223	L	0.46157	1.445	0.28808	N	0.898419	D	0.56035	0.974	P	0.54499	0.754	T	0.06058	-1.0848	10	0.87932	D	0	.	5.7069	0.17913	0.0:0.2158:0.0:0.7842	.	579	Q5T749	KPRP_HUMAN	L	579	ENSP00000357762:F579L	ENSP00000357762:F579L	F	+	3	2	KPRP	151000425	1.000000	0.71417	0.987000	0.45799	0.059000	0.15707	0.432000	0.21461	0.853000	0.35312	-0.736000	0.03550	TTT	-	NULL		0.478	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPRP	protein_coding	OTTHUMT00000034522.2	T	NM_001025231		151000425	+1	no_errors	NM_001025231.1	genbank	human	provisional	54_36p	missense	SNP	0.976	G
CFHR2	3080	genome.wustl.edu	37	1	196918613	196918613	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr1:196918613C>G	ENST00000367415.5	+	2	187	c.87C>G	c.(85-87)aaC>aaG	p.N29K	CFHR2_ENST00000496448.1_Intron|CFHR2_ENST00000476712.2_Missense_Mutation_p.N29K|CFHR2_ENST00000367421.3_Missense_Mutation_p.N29K	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	29	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						CAAAAATAAACCATGGAATTC	0.289																																						dbGAP											0			1											51.0	53.0	52.0					1																	196918613		2200	4300	6500	195185236	SO:0001583	missense	0			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.87C>G	1.37:g.196918613C>G	ENSP00000356385:p.Asn29Lys	107	2.73	3		0	0.00	0	195185236	97	32.17	46	Q14310|Q5T9T1	Missense_Mutation	SNP	HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain	p.N29K	ENST00000367415.5	37	c.87	CCDS30959.1	1	.	.	.	.	.	.	.	.	.	.	C	0	-2.751044	0.00086	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.64438	-0.1;-0.1	3.33	-6.66	0.01789	Complement control module (2);Sushi/SCR/CCP (2);	0.458259	0.16041	N	0.232426	T	0.29652	0.0740	N	0.05534	-0.03	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15694	-1.0428	10	0.05436	T	0.98	.	10.6204	0.45476	0.1529:0.6734:0.1736:0.0	.	29	P36980	FHR2_HUMAN	K	29	ENSP00000356391:N29K;ENSP00000356385:N29K	ENSP00000356385:N29K	N	+	3	2	CFHR2	195185236	0.000000	0.05858	0.015000	0.15790	0.060000	0.15804	-4.971000	0.00164	-3.851000	0.00099	-1.913000	0.00520	AAC	-	HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain		0.289	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR2	protein_coding	OTTHUMT00000088815.2	C	NM_005666		195185236	+1	no_errors	NM_005666.2	genbank	human	validated	54_36p	missense	SNP	0.059	G
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H	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	41	2.38	1		14	58.82	20	25310746	64	42.34	47	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
BMP10	27302	genome.wustl.edu	37	2	69092806	69092806	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr2:69092806A>T	ENST00000295379.1	-	2	1390	c.1232T>A	c.(1231-1233)tTt>tAt	p.F411Y		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	411					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TTCGTATTTAAACTTGTAGGT	0.433																																						dbGAP											0			2											130.0	132.0	131.0					2																	69092806		2203	4300	6503	68946310	SO:0001583	missense	0			AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.1232T>A	2.37:g.69092806A>T	ENSP00000295379:p.Phe411Tyr	91	1.09	1		NA	NA	NA	68946310	101	38.04	62	Q53R17|Q6NTE0	Missense_Mutation	SNP	HMMPfam_TGFb_propeptide,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501	p.F411Y	ENST00000295379.1	37	c.1232	CCDS1890.1	2	.	.	.	.	.	.	.	.	.	.	A	6.692	0.496219	0.12762	.	.	ENSG00000163217	ENST00000295379	D	0.83506	-1.73	6.17	6.17	0.99709	Transforming growth factor-beta, C-terminal (3);	0.047423	0.85682	D	0.000000	T	0.64046	0.2563	N	0.02192	-0.645	0.49798	D	0.999821	B	0.26147	0.143	B	0.27262	0.078	T	0.64487	-0.6396	10	0.11794	T	0.64	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	411	O95393	BMP10_HUMAN	Y	411	ENSP00000295379:F411Y	ENSP00000295379:F411Y	F	-	2	0	BMP10	68946310	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.775000	0.75018	2.371000	0.80710	0.533000	0.62120	TTT	-	HMMPfam_TGF_beta,HMMSmart_TGFB,superfamily_SSF57501		0.433	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP10	protein_coding	OTTHUMT00000251768.1	A	NM_014482		68946310	-1	no_errors	NM_014482.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179516225	179516225	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr2:179516225C>T	ENST00000591111.1	-	162	35205	c.34981G>A	c.(34981-34983)Gtg>Atg	p.V11661M	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V10734M|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V13168M|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11661	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAGAGGCACCTTCTTTTCA	0.468																																						dbGAP											0			2											65.0	62.0	63.0					2																	179516225		1838	4080	5918	179224470	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34981G>A	2.37:g.179516225C>T	ENSP00000465570:p.Val11661Met	54	1.82	1		NA	NA	NA	179224470	38	41.54	27	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	superfamily_DH-domain,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,HMMPfam_PPAK,superfamily_FN_III-like,superfamily_ConA_like_lec_gl,superfamily_Man6php_recept,HMMPfam_I-set,HMMPfam_ig,PatternScan_FGGY_KINASES_1,superfamily_SSF48726	p.V885M	ENST00000591111.1	37	c.2653		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.67|12.67	2.007099|2.007099	0.35415|0.35415	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000426232|ENST00000342992;ENST00000429997;ENST00000446966	.|T;T	.|0.77358	.|-1.09;-1.09	5.22|5.22	4.32|4.32	0.51571|0.51571	.|Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.|.	.|.	.|.	.|.	T|T	0.73814|0.73814	0.3635|0.3635	M|M	0.71871|0.71871	2.18|2.18	0.80722|0.80722	D|D	1|1	.|B	.|0.10296	.|0.003	.|B	.|0.14023	.|0.01	T|T	0.74022|0.74022	-0.3798|-0.3798	5|9	.|0.87932	.|D	.|0	.|.	7.2433|7.2433	0.26107|0.26107	0.1512:0.7101:0.0:0.1386|0.1512:0.7101:0.0:0.1386	.|.	.|11661	.|Q8WZ42	.|TITIN_HUMAN	D|M	8|10734;7;7	.|ENSP00000343764:V10734M;ENSP00000408004:V7M	.|ENSP00000343764:V10734M	G|V	-|-	2|1	0|0	TTN|TTN	179224470|179224470	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	-0.152000|-0.152000	0.10159|0.10159	2.590000|2.590000	0.87494|0.87494	0.650000|0.650000	0.86243|0.86243	GGT|GTG	-	superfamily_DH-domain,HMMPfam_PPAK		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179224470	-1	no_stop_codon	ENST00000342992	ensembl	human	known	54_36p	missense	SNP	0.999	T
GATA2	2624	genome.wustl.edu	37	3	128200151	128200151	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr3:128200151G>A	ENST00000341105.2	-	6	1485	c.1154C>T	c.(1153-1155)cCa>cTa	p.P385L	GATA2_ENST00000430265.2_Missense_Mutation_p.P371L|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Missense_Mutation_p.P385L	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	385					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|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 (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CATGGTCAGTGGCCTGTTAAC	0.562			Mis		AML(CML blast transformation)																																	dbGAP		Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0			3											84.0	85.0	84.0					3																	128200151		2203	4300	6503	129682841	SO:0001583	missense	0			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1154C>T	3.37:g.128200151G>A	ENSP00000345681:p.Pro385Leu	54	0.00	0		11	89.42	93	129682841	54	43.16	41	D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	HMMPfam_GATA,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,superfamily_SSF57716	p.P385L	ENST00000341105.2	37	c.1154	CCDS3049.1	3	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406031	0.83230	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.99741	-6.6;-6.32;-6.6	4.77	4.77	0.60923	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (2);	0.052768	0.85682	D	0.000000	D	0.99837	0.9926	H	0.96943	3.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.96559	0.9414	10	0.87932	D	0	-9.8711	18.1584	0.89701	0.0:0.0:1.0:0.0	.	371;385	P23769-2;P23769	.;GATA2_HUMAN	L	385;371;385	ENSP00000345681:P385L;ENSP00000400259:P371L;ENSP00000417074:P385L	ENSP00000345681:P385L	P	-	2	0	GATA2	129682841	1.000000	0.71417	0.966000	0.40874	0.930000	0.56654	9.748000	0.98867	2.355000	0.79922	0.491000	0.48974	CCA	-	HMMSmart_ZnF_GATA,superfamily_SSF57716		0.562	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA2	protein_coding	OTTHUMT00000356925.1	G	NM_032638		129682841	-1	no_errors	NM_032638.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SLC27A6	28965	genome.wustl.edu	37	5	128351606	128351606	+	Missense_Mutation	SNP	G	G	A	rs145458325	byFrequency	TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr5:128351606G>A	ENST00000262462.4	+	5	2008	c.998G>A	c.(997-999)cGt>cAt	p.R333H	SLC27A6_ENST00000395266.1_Missense_Mutation_p.R333H|SLC27A6_ENST00000506176.1_Missense_Mutation_p.R333H			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	333					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CATAAGGTGCGTTTGGCAATT	0.323													G|||	4	0.000798722	0.003	0.0	5008	,	,		16252	0.0		0.0	False		,,,				2504	0.0					dbGAP											0			5						G	HIS/ARG,HIS/ARG	13,4393	20.2+/-43.8	0,13,2190	120.0	123.0	122.0		998,998	2.2	0.5	5	dbSNP_134	122	0,8600		0,0,4300	yes	missense,missense	SLC27A6	NM_001017372.1,NM_014031.3	29,29	0,13,6490	AA,AG,GG		0.0,0.2951,0.1	possibly-damaging,possibly-damaging	333/620,333/620	128351606	13,12993	2203	4300	6503	128379505	SO:0001583	missense	0			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.998G>A	5.37:g.128351606G>A	ENSP00000262462:p.Arg333His	171	1.71	3		0	100.00	2	128379505	89	38.62	56	Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_SSF56801	p.R333H	ENST00000262462.4	37	c.998	CCDS4145.1	5	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	14.58	2.577264	0.45902	0.002951	0.0	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	4.03	2.25	0.28309	AMP-dependent synthetase/ligase (1);	0.112951	0.56097	D	0.000028	T	0.63283	0.2498	M	0.76328	2.33	0.25613	N	0.986487	P	0.51537	0.946	P	0.56088	0.791	T	0.56619	-0.7949	9	.	.	.	-19.7912	10.8619	0.46831	0.1584:0.0:0.8416:0.0	.	333	Q9Y2P4	S27A6_HUMAN	H	152;333;333;333	ENSP00000421759:R152H;ENSP00000262462:R333H;ENSP00000378684:R333H;ENSP00000421024:R333H	.	R	+	2	0	SLC27A6	128379505	0.943000	0.32029	0.456000	0.27044	0.242000	0.25591	4.919000	0.63383	0.676000	0.31285	0.461000	0.40582	CGT	-	HMMPfam_AMP-binding,superfamily_SSF56801		0.323	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A6	protein_coding	OTTHUMT00000250980.1	G	NM_014031		128379505	+1	no_errors	NM_001017372.1	genbank	human	reviewed	54_36p	missense	SNP	0.465	A
GABBR1	2550	genome.wustl.edu	37	6	29581178	29581178	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr6:29581178C>A	ENST00000377034.4	-	12	1743	c.1408G>T	c.(1408-1410)Gcc>Tcc	p.A470S	GABBR1_ENST00000355973.3_Missense_Mutation_p.A353S|GABBR1_ENST00000377016.4_Missense_Mutation_p.A408S|GABBR1_ENST00000377012.4_Missense_Mutation_p.A353S|GABBR1_ENST00000376977.3_Missense_Mutation_p.A470S	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	470					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GCATCATAGGCCAGCGGTGCC	0.547																																						dbGAP											0			6											120.0	126.0	124.0					6																	29581178		1509	2709	4218	29689157	SO:0001583	missense	0			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1408G>T	6.37:g.29581178C>A	ENSP00000366233:p.Ala470Ser	82	2.38	2		35	52.70	39	29689157	100	42.86	75	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_ANF_receptor,superfamily_Complement control module/SCR domain,HMMPfam_7tm_3,superfamily_Periplasmic binding protein-like I	p.A470S	ENST00000377034.4	37	c.1408	CCDS4663.1	6	.	.	.	.	.	.	.	.	.	.	C	34	5.368247	0.95900	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	5.84	5.84	0.93424	Extracellular ligand-binding receptor (1);	0.052264	0.85682	D	0.000000	D	0.88100	0.6346	M	0.79805	2.47	0.80722	D	1	P;P;P;P	0.48998	0.918;0.669;0.537;0.822	P;B;P;P	0.49999	0.628;0.423;0.45;0.492	D	0.89539	0.3791	10	0.87932	D	0	-29.4237	17.64	0.88133	0.0:1.0:0.0:0.0	.	470;408;470;353	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	S	353;470;408;353;470	ENSP00000348248:A353S;ENSP00000366176:A470S;ENSP00000366215:A408S;ENSP00000366211:A353S;ENSP00000366233:A470S	ENSP00000348248:A353S	A	-	1	0	GABBR1	29689157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.421000	0.80204	2.769000	0.95229	0.655000	0.94253	GCC	-	HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I		0.547	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR1	protein_coding	OTTHUMT00000076141.3	C			29689157	-1	no_errors	NM_001470.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
HECW1	23072	genome.wustl.edu	37	7	43601458	43601458	+	Missense_Mutation	SNP	C	C	T	rs367929468		TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr7:43601458C>T	ENST00000395891.2	+	30	5359	c.4754C>T	c.(4753-4755)tCg>tTg	p.S1585L	HECW1_ENST00000453890.1_Missense_Mutation_p.S1551L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1585	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCGTATCCCTCGTACTCCATG	0.478																																						dbGAP											0			7						C	LEU/SER	1,4039		0,1,2019	144.0	140.0	142.0		4754	5.9	0.9	7		142	0,8398		0,0,4199	no	missense	HECW1	NM_015052.3	145	0,1,6218	TT,TC,CC		0.0,0.0248,0.0080	probably-damaging	1585/1607	43601458	1,12437	2020	4199	6219	43567983	SO:0001583	missense	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4754C>T	7.37:g.43601458C>T	ENSP00000379228:p.Ser1585Leu	61	3.12	2		NA	NA	NA	43567983	87	37.86	53	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_C2,HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT,HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,superfamily_C2_CaLB	p.S1585L	ENST00000395891.2	37	c.4754	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956237	0.92726	2.48E-4	0.0	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.56941	0.43;0.43	5.93	5.93	0.95920	HECT (4);	0.000000	0.85682	D	0.000000	T	0.81880	0.4916	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.85879	0.1421	10	0.87932	D	0	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	1551;1585	B4DH42;Q76N89	.;HECW1_HUMAN	L	1585;1551;1585	ENSP00000379228:S1585L;ENSP00000407774:S1551L	ENSP00000265522:S1585L	S	+	2	0	HECW1	43567983	1.000000	0.71417	0.938000	0.37757	0.995000	0.86356	7.802000	0.85969	2.814000	0.96858	0.591000	0.81541	TCG	-	HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT		0.478	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	protein_coding	OTTHUMT00000250893.2	C	NM_015052		43567983	+1	no_errors	NM_015052.3	genbank	human	validated	54_36p	missense	SNP	0.985	T
GRM3	2913	genome.wustl.edu	37	7	86415970	86415970	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr7:86415970G>A	ENST00000361669.2	+	3	1961	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.A288T|GRM3_ENST00000394720.2_Missense_Mutation_p.A286T|AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.A160T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	288					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CATTGCAGCCGCCAGCCGCGC	0.662																																					GBM(52;969 1098 3139 52280)	dbGAP											0			7											31.0	36.0	34.0					7																	86415970		2199	4288	6487	86253906	SO:0001583	missense	0				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.862G>A	7.37:g.86415970G>A	ENSP00000355316:p.Ala288Thr	7	0.00	0		NA	NA	NA	86253906	13	59.38	19	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_Periplasmic binding protein-like I	p.A288T	ENST00000361669.2	37	c.862	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254724	0.80135	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18	6.07	6.07	0.98685	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88945	0.6575	L	0.38733	1.17	0.80722	D	1	P;D;P	0.71674	0.68;0.998;0.859	B;P;B	0.56612	0.167;0.802;0.437	D	0.87485	0.2423	10	0.40728	T	0.16	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	160;288;288	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	T	288;160;160;288;286	ENSP00000355316:A288T;ENSP00000405427:A160T;ENSP00000441407:A160T;ENSP00000398767:A288T;ENSP00000378209:A286T	ENSP00000355316:A288T	A	+	1	0	GRM3	86253906	1.000000	0.71417	0.970000	0.41538	0.950000	0.60333	9.756000	0.98918	2.885000	0.99019	0.655000	0.94253	GCC	-	HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I		0.662	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	protein_coding	OTTHUMT00000253362.2	G			86253906	+1	no_errors	NM_000840.2	genbank	human	reviewed	54_36p	missense	SNP	0.999	A
CSMD1	64478	genome.wustl.edu	37	8	3081337	3081337	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr8:3081337G>T	ENST00000520002.1	-	29	4956	c.4401C>A	c.(4399-4401)aaC>aaA	p.N1467K	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.N1466K|CSMD1_ENST00000537824.1_Missense_Mutation_p.N1466K|CSMD1_ENST00000602723.1_Missense_Mutation_p.N1467K|CSMD1_ENST00000400186.3_Missense_Mutation_p.N1467K|CSMD1_ENST00000542608.1_Missense_Mutation_p.N1466K|CSMD1_ENST00000602557.1_Missense_Mutation_p.N1467K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1467	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGTGGGTAGTTGGGTGACA	0.483																																						dbGAP											0			8											73.0	77.0	76.0					8																	3081337		1890	4119	6009	3068744	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4401C>A	8.37:g.3081337G>T	ENSP00000430733:p.Asn1467Lys	74	2.63	2		NA	NA	NA	3068744	37	47.14	33	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain	p.L1468I	ENST00000520002.1	37	c.4402		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.395952|4.395952	0.83011|0.83011	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.34859	.|1.34;1.34;1.34;1.34;1.34	5.08|5.08	5.08|5.08	0.68730|0.68730	.|CUB (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68677|0.68677	0.3027|0.3027	M|M	0.89840|0.89840	3.065|3.065	0.58432|0.58432	D|D	0.999998|0.999998	.|D;P;D	.|0.89917	.|0.999;0.951;1.0	.|D;P;D	.|0.91635	.|0.996;0.792;0.999	T|T	0.75964|0.75964	-0.3132|-0.3132	5|10	.|0.66056	.|D	.|0.02	.|.	18.8339|18.8339	0.92153|0.92153	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1467;1467;1467	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	I|K	947|1467;1467;1329;1466;1466;1466	.|ENSP00000383047:N1467K;ENSP00000430733:N1467K;ENSP00000441462:N1466K;ENSP00000446243:N1466K;ENSP00000441675:N1466K	.|ENSP00000320445:N1329K	L|N	-|-	1|3	2|2	CSMD1|CSMD1	3068744|3068744	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.281000|5.281000	0.65609|0.65609	2.508000|2.508000	0.84585|0.84585	0.650000|0.650000	0.86243|0.86243	CTA|AAC	-	NULL		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	G	NM_033225		3068744	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_033225.4	genbank	human	validated	54_36p	missense	SNP	1.000	T
CACNA1B	774	genome.wustl.edu	37	9	141015927	141015927	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr9:141015927G>T	ENST00000371372.1	+	47	6641	c.6496G>T	c.(6496-6498)Ggt>Tgt	p.G2166C	CACNA1B_ENST00000371357.1_Missense_Mutation_p.G2165C|CACNA1B_ENST00000277549.5_Missense_Mutation_p.G1360C|CACNA1B_ENST00000371355.4_Missense_Mutation_p.G2167C|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371363.1_Missense_Mutation_p.G2164C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2166					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GTAGGGCAGTGGTTCCGTGAA	0.572																																						dbGAP											0			9											39.0	42.0	41.0					9																	141015927		1917	4111	6028	140135748	SO:0001583	missense	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6496G>T	9.37:g.141015927G>T	ENSP00000360423:p.Gly2166Cys	10	0.00	0		NA	NA	NA	140135748	9	74.29	26	B1AQK5	Missense_Mutation	SNP	HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels	p.G2166C	ENST00000371372.1	37	c.6496	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785893	0.70337	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.97455	-4.16;-4.39;-4.17;-4.15;-4.15	5.0	5.0	0.66597	.	0.059518	0.64402	D	0.000002	D	0.98194	0.9403	M	0.69823	2.125	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	D	0.99410	1.0930	10	0.72032	D	0.01	.	18.2798	0.90096	0.0:0.0:1.0:0.0	.	2165;2164	B1AQK7;B1AQK6	.;.	C	2166;1360;2164;2165;2167	ENSP00000360423:G2166C;ENSP00000277549:G1360C;ENSP00000360414:G2164C;ENSP00000360408:G2165C;ENSP00000360406:G2167C	ENSP00000277549:G1360C	G	+	1	0	CACNA1B	140135748	1.000000	0.71417	0.516000	0.27786	0.701000	0.40568	6.479000	0.73600	2.319000	0.78375	0.561000	0.74099	GGT	-	NULL		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	protein_coding	OTTHUMT00000055380.1	G	NM_000718		140135748	+1	no_errors	NM_000718.2	genbank	human	validated	54_36p	missense	SNP	1.000	T
RFC3	5983	genome.wustl.edu	37	13	34404083	34404083	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr13:34404083A>C	ENST00000380071.3	+	5	632	c.502A>C	c.(502-504)Aca>Cca	p.T168P	RFC3_ENST00000434425.1_Missense_Mutation_p.T168P|RNU5A-4P_ENST00000516588.1_RNA	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	168					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		CTGCAATTCTACATCTAAAGT	0.433																																						dbGAP											0			13											199.0	170.0	180.0					13																	34404083		2203	4300	6503	33302083	SO:0001583	missense	0				CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"""ATPases / AAA-type"""	9971	protein-coding gene	gene with protein product	"""RFC, 38 kD subunit"", ""A1 38 kDa subunit"""	600405	"""replication factor C (activator 1) 3 (38kD)"""			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.502A>C	13.37:g.34404083A>C	ENSP00000369411:p.Thr168Pro	60	0.00	0		43	6.52	3	33302083	64	25.58	22	C9JU95|O15252|Q5W0E8	Missense_Mutation	SNP	HMMSmart_SM00382,superfamily_DNA polymerase III clamp loader subunits C-terminal domain,HMMPfam_RFC-E_C,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.T168P	ENST00000380071.3	37	c.502	CCDS9352.1	13	.	.	.	.	.	.	.	.	.	.	A	15.86	2.956384	0.53293	.	.	ENSG00000133119	ENST00000380071;ENST00000434425	T;T	0.38077	1.16;1.16	5.48	5.48	0.80851	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.045251	0.85682	D	0.000000	T	0.47002	0.1422	L	0.43598	1.365	0.58432	D	0.999999	D;B;B	0.57571	0.98;0.003;0.001	P;B;B	0.62491	0.903;0.012;0.012	T	0.41288	-0.9517	10	0.48119	T	0.1	-11.2872	10.7623	0.46272	0.9235:0.0:0.0765:0.0	.	168;168;168	B4DKE6;C9JU95;P40938	.;.;RFC3_HUMAN	P	168	ENSP00000369411:T168P;ENSP00000401001:T168P	ENSP00000369411:T168P	T	+	1	0	RFC3	33302083	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.709000	0.68384	2.075000	0.62263	0.528000	0.53228	ACA	-	HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.433	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC3	protein_coding	OTTHUMT00000044450.2	A	NM_002915		33302083	+1	no_errors	NM_002915.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
FAM154B	283726	genome.wustl.edu	37	15	82574525	82574525	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr15:82574525C>T	ENST00000339465.5	+	3	388	c.319C>T	c.(319-321)Cct>Tct	p.P107S	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.P92S	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	107										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TTACCACCCGCCTACTGTGAA	0.363																																						dbGAP											0			15											93.0	99.0	97.0					15																	82574525		2203	4300	6503	80361580	SO:0001583	missense	0			AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.319C>T	15.37:g.82574525C>T	ENSP00000340445:p.Pro107Ser	58	1.67	1		NA	NA	NA	80361580	57	44.66	46	B4E2M2	Missense_Mutation	SNP	NULL	p.P107S	ENST00000339465.5	37	c.319	CCDS32310.1	15	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271324	0.23221	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.16743	2.32;2.32	3.57	3.57	0.40892	.	0.079246	0.50627	D	0.000105	T	0.24122	0.0584	M	0.69185	2.1	0.39321	D	0.965246	P;P	0.52061	0.911;0.95	P;P	0.47162	0.54;0.54	T	0.17107	-1.0380	10	0.16420	T	0.52	-5.72	15.7179	0.77685	0.0:1.0:0.0:0.0	.	92;107	B4E2M2;Q658L1	.;F154B_HUMAN	S	107;92	ENSP00000340445:P107S;ENSP00000403743:P92S	ENSP00000340445:P107S	P	+	1	0	FAM154B	80361580	0.997000	0.39634	0.902000	0.35471	0.078000	0.17371	2.287000	0.43505	1.981000	0.57761	0.536000	0.68110	CCT	-	NULL		0.363	FAM154B-001	KNOWN	basic|CCDS	protein_coding	FAM154B	protein_coding	OTTHUMT00000419644.1	C	NM_001008226		80361580	+1	no_errors	NM_001008226.1	genbank	human	predicted	54_36p	missense	SNP	0.990	T
NPM1	4869	genome.wustl.edu	37	5	170837543	170837544	+	Frame_Shift_Ins	INS	-	-	TCTG	rs17850940		TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr5:170837543_170837544insTCTG	ENST00000296930.5	+	11	1160_1161	c.859_860insTCTG	c.(859-861)ctcfs	p.-287fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.-287fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.-258fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)						cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(7)|p.W288fs*>9(5)|p.L287fs*11(2)|p.L287F(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TATTCAAGATCTCTGGCAGTGG	0.317			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	dbGAP		Dom	yes		5	5q35	4869	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""		L	15	Insertion - Frameshift(14)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(15)	5																																								170770149	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Leu287fs	NA	NA	NA		NA	NA	NA	170770148	NA	NA	NA	A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.859_860	CCDS4376.1	5																																																																																			-	NULL		0.317	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770149	+1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG
FLT3	2322	genome.wustl.edu	37	13	28608255	28608256	+	In_Frame_Ins	INS	-	-	ATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATT			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	-	-	-	ATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr13:28608255_28608256insATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATT	ENST00000241453.7	-	14	1881_1882	c.1800_1801insAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGAT	c.(1798-1803)gatctc>gatAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGATctc	p.599_600insDNEYFYVDFREYEY	FLT3_ENST00000537084.1_In_Frame_Ins_p.599_600insDNEYFYVDFREYEY|FLT3_ENST00000380982.4_In_Frame_Ins_p.599_600insDNEYFYVDFREYEY	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	599					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D600_L601insFREYEYD(4)|p.D600_L601ins17(2)|p.D600_L601>HVDFREYEYD(2)|p.Y599_D600insEYEYEYEY(2)|p.Y599_D600ins12(1)|p.D600_L601ins28(1)|p.D600>EPAPQINSTGSSDNEYFYVDFREYEYDLT(1)|p.600_601>PTSQVTGSSDNEYFYVDFREYEYD(1)|p.600_601>PRGFYVDFREYEYD(1)|p.D600_L601ins20(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCCATTTGAGATCATATTCAT	0.366			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	16	Insertion - In frame(11)|Complex - insertion inframe(5)	haematopoietic_and_lymphoid_tissue(16)	13																																								27506256	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1759_1800dupAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGAT	13.37:g.28608255_28608256insATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATT	ENSP00000241453:p.Asp586_Tyr599dup	NA	NA	NA		NA	NA	NA	27506255	NA	NA	NA	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.600in_frame_insNEYFYVDFREYEYD	ENST00000241453.7	37	c.1801_1800	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.366	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506256	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:0.998	ATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATT
