#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_Annotation_Transcript	i_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Change	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_IS_SCNA	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
CCDC93	54520	broad.mit.edu	37	2	118705727	118705727	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr2:118705727delT	ENST00000376300.2	-	15	1315	c.1178delA	c.(1177-1179)aatfs	p.N393fs	CCDC93_ENST00000319432.5_Frame_Shift_Del_p.N392fs	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	393										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CAGATTTTCATTCATGGCTAC	0.373																																						ENST00000376300.2	1	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1																										0				29						c.(1177-1179)aatfs		coiled-coil domain containing 93							229.0	228.0	228.0					2																	118705727		2203	4300	6503	SO:0001589	frameshift_variant	54520	0	0					g.chr2:118705727delT	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1178delA	chr2.hg19:g.118705727delT	ENSP00000365477:p.Asn393fs	0					CCDC93_ENST00000319432.5_Frame_Shift_Del_p.N392fs	p.N393fs	NM_019044.4	NP_061917.3	1	2	3	2.001434	Q567U6	CCD93_HUMAN		15	1315	-			A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Frame_Shift_Del	DEL	ENST00000376300.2	1	1	hg19	c.1178delA	CCDS2121.2	1																																																																																								0.061960		TCGA-HZ-A49H-01A-11D-A26I-08	0.373	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	1	0	1		46	2		0	0	0	2	131	0	131	131	1	2	-20.000000	1	0.050000	NM_019044		0	158	174	0	1296	1283	0	0	1	0	0	0	0	131	0	0	1.000000	3.332791e-02	0	0	0	3	0	158	1296
PSD	5662	broad.mit.edu	37	10	104170669	104170669	+	Silent	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr10:104170669G>A	ENST00000020673.5	-	10	2563	c.2037C>T	c.(2035-2037)atC>atT	p.I679I	PSD_ENST00000406432.1_Silent_p.I679I	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	679	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCAGGTTCCCGATGAAGTCCC	0.632																																						ENST00000020673.5	1	0.990000	1.000000	0.990000	0.990000	0.999605	0.990000	1																										0				34						c.(2035-2037)atC>atT		pleckstrin and Sec7 domain containing							74.0	76.0	75.0					10																	104170669		2203	4300	6503	SO:0001819	synonymous_variant	5662	0	0					g.chr10:104170669G>A	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2037C>T	chr10.hg19:g.104170669G>A		0					PSD_ENST00000406432.1_Silent_p.I679I	p.I679I	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	0	1	1	1.998401	A5PKW4	PSD1_HUMAN		10	2563	-			B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	ENST00000020673.5	1	1	hg19	c.2037C>T	CCDS31272.1	1																																																																																								0.037487		TCGA-HZ-A49H-01A-11D-A26I-08	0.632	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2	1	0	1	2	2	2	2	0	0	0	0	112	112	112	109	1	2	-5.423394	1	0.050000			0	30	30	0	603	595	0		1	0		0	0	112	0	0	1.000000	9.917710e-02	0	0	0	11	0	30	603
NAA40	79829	broad.mit.edu	37	11	63720021	63720021	+	Missense_Mutation	SNP	G	G	A	rs560814398	byFrequency	TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr11:63720021G>A	ENST00000377793.4	+	5	495	c.394G>A	c.(394-396)Gat>Aat	p.D132N	NAA40_ENST00000539656.1_Intron|NAA40_ENST00000542163.1_Missense_Mutation_p.D111N|NAA40_ENST00000456907.2_Missense_Mutation_p.D92N|NAA40_ENST00000536939.1_3'UTR	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	132	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						GGAGTGTGGGGATGAAGTCCT	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		21258	0.0		0.0	False		,,,				2504	0.002					ENST00000377793.4	1	0.480000	1.000000	0.720000	0.990000	0.902118	0.990000	1																										0				5						c.(394-396)Gat>Aat		N(alpha)-acetyltransferase 40, NatD catalytic subunit							155.0	132.0	140.0					11																	63720021		2201	4297	6498	SO:0001583	missense	79829	5	121412	37				g.chr11:63720021G>A	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"""N(alpha)-acetyltransferase subunits"""	25845	protein-coding gene	gene with protein product			"""N-acetyltransferase 11"", ""N-acetyltransferase 11 (GCN5-related, putative)"", ""N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"""	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.394G>A	chr11.hg19:g.63720021G>A	ENSP00000367024:p.Asp132Asn	0					NAA40_ENST00000539656.1_Intron|NAA40_ENST00000542163.1_Missense_Mutation_p.D111N|NAA40_ENST00000456907.2_Missense_Mutation_p.D92N|NAA40_ENST00000536939.1_3'UTR	p.D132N	NM_024771.2	NP_079047.2	1	2	3	2.007870	Q86UY6	NAA40_HUMAN		5	495	+			B4DR03|B4DU10|Q5HYL5|Q9H897	Missense_Mutation	SNP	ENST00000377793.4	0	1	hg19	c.394G>A	CCDS8053.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.219701	0.95139	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000542163	T;T;T	0.21932	1.98;1.98;1.98	5.63	5.63	0.86233	5.63	5.63	0.86233	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.044312	0.85682	D	0.000000	T	0.31358	0.0794	L	0.45422	1.42	0.80722	D	1	P;P	0.52577	0.954;0.922	P;P	0.54060	0.741;0.697	T	0.00896	-1.1523	10	0.18276	T	0.48	-14.1974	18.432	0.90628	0.0:0.0:1.0:0.0	.	92;132	B4DU10;Q86UY6	.;NAA40_HUMAN	N	132;92;111	ENSP00000367024:D132N;ENSP00000407578:D92N;ENSP00000442055:D111N	ENSP00000367024:D132N	D	+	1	0	0	NAA40	63476597	63476597	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.514000	0.98013	2.645000	0.89757	0.484000	0.47621	GAT	0.063578		TCGA-HZ-A49H-01A-11D-A26I-08	0.582	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	0	0	1	2	2	2	2	0	0	0	0	54	54	54	54	1	2	-3.286392	1	0.050000	NM_024771		0	8	8	0	339	336	0		1	0	0	0	0	54	0	0	0.989196	6.638870e-02	0	0	0	16	1	8	339
FAT3	120114	broad.mit.edu	37	11	92533399	92533399	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr11:92533399C>T	ENST00000298047.6	+	9	7237	c.7220C>T	c.(7219-7221)gCc>gTc	p.A2407V	FAT3_ENST00000409404.2_Missense_Mutation_p.A2407V|FAT3_ENST00000525166.1_Missense_Mutation_p.A2257V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2407	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTGAATTAGCCCCCCGGGGC	0.443										TCGA Ovarian(4;0.039)																												ENST00000298047.6	1	0.450000	1.000000	0.610000	0.800000	0.802264	0.800000	1																										0				85						c.(7219-7221)gCc>gTc		FAT atypical cadherin 3							85.0	86.0	86.0					11																	92533399		1825	4078	5903	SO:0001583	missense	120114	0	0					g.chr11:92533399C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7220C>T	chr11.hg19:g.92533399C>T	ENSP00000298047:p.Ala2407Val	0	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.A2257V|FAT3_ENST00000409404.2_Missense_Mutation_p.A2407V	p.A2407V			0	1	1	1.998243	Q8TDW7	FAT3_HUMAN		9	7237	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	0	1	hg19	c.7220C>T		0	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220431	0.79464	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.55588	0.51;0.51;0.51	5.86	5.86	0.93980	5.86	5.86	0.93980	.	.	.	.	.	T	0.74283	0.3696	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72404	-0.4304	9	0.45353	T	0.12	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	2407	Q8TDW7-3	.	V	2407;2407;2257	ENSP00000298047:A2407V;ENSP00000387040:A2407V;ENSP00000432586:A2257V	ENSP00000298047:A2407V	A	+	2	0	0	FAT3	92173047	92173047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.755000	0.85180	2.778000	0.95560	0.655000	0.94253	GCC	0.037487		TCGA-HZ-A49H-01A-11D-A26I-08	0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		0	0	1	2	33	2	2	1	1	1	2	83	83	83	82	1	2	-2.395632	0	0.050000	NM_001008781		0	13	13	0	620	615	0		0			1	0	83	0	0	0.001734	0	0	0	0	0	0	13	620
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1	0.990000	1.000000	0.990000	0.990000	0.999999	0.990000	1	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	0	0		Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	chr12.hg19:g.25398284C>A	ENSP00000256078:p.Gly12Val	0	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	p.G12V	NM_033360.2	NP_203524.1	1	2	3	2.005415	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	0	1	hg19	c.35G>T	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.062885		TCGA-HZ-A49H-01A-11D-A26I-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	2	2	2	2	0	0	0	0	10	10	10	10	1	2	-9.786752	1	0.050000	NM_033360		1718	15	15	6247	98	97	1	1	1	1	1	0	0	10	415	1	0.999904	4.543920e-01	1	6	70	5	462	15	98
CPNE6	9362	broad.mit.edu	37	14	24546432	24546432	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr14:24546432G>A	ENST00000397016.2	+	16	1680	c.1369G>A	c.(1369-1371)Gtg>Atg	p.V457M	CPNE6_ENST00000537691.1_Missense_Mutation_p.V512M|CPNE6_ENST00000216775.2_Missense_Mutation_p.V457M	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	457	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CACTGCTATCGTGCGTGCCTC	0.617																																						ENST00000397016.2	1	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1																										0				22						c.(1369-1371)Gtg>Atg		copine VI (neuronal)							119.0	98.0	105.0					14																	24546432		2203	4300	6503	SO:0001583	missense	9362	0	0					g.chr14:24546432G>A	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1369G>A	chr14.hg19:g.24546432G>A	ENSP00000380211:p.Val457Met	0					CPNE6_ENST00000537691.1_Missense_Mutation_p.V512M|CPNE6_ENST00000216775.2_Missense_Mutation_p.V457M	p.V457M	NM_001280558.1	NP_001267487.1	1	2	3	2.008487	O95741	CPNE6_HUMAN		16	1680	+			B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	1	1	hg19	c.1369G>A	CCDS9607.1	1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569874	0.65765	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.31247	1.5;1.5;1.5	5.06	5.06	0.68205	5.06	5.06	0.68205	von Willebrand factor, type A (2);Copine (1);	0.000000	0.48286	D	0.000197	T	0.66127	0.2758	M	0.93507	3.425	0.51233	D	0.999918	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.998;0.999	T	0.76454	-0.2953	10	0.87932	D	0	-12.3339	15.9207	0.79570	0.0:0.0:1.0:0.0	.	512;282;457	F5GXN1;B3KWK1;O95741	.;.;CPNE6_HUMAN	M	512;457;457	ENSP00000440077:V512M;ENSP00000380211:V457M;ENSP00000216775:V457M	ENSP00000216775:V457M	V	+	1	0	0	CPNE6	23616272	23616272	1.000000	0.71417	0.991000	0.47740	0.208000	0.24298	8.019000	0.88732	2.347000	0.79759	0.467000	0.42956	GTG	0.063809		TCGA-HZ-A49H-01A-11D-A26I-08	0.617	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5	1	0	1	2	2	2	2	0	0	0	0	65	65	65	65	1	2	-20.000000	1	0.050000			0	35	34	0	354	348	0		1			0	0	65	0	0	1.000000	0	0	0	0	0	0	35	354
DOT1L	84444	broad.mit.edu	37	19	2210769	2210769	+	Silent	SNP	C	C	T	rs373787443		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr19:2210769C>T	ENST00000398665.3	+	14	1302	c.1266C>T	c.(1264-1266)ccC>ccT	p.P422P	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	422					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGAACCCCGAGCGGAAGC	0.632																																						ENST00000398665.3	1	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1																										0				42						c.(1264-1266)ccC>ccT		DOT1-like histone H3K79 methyltransferase		C		0,4022		0,0,2011	50.0	63.0	59.0		1266	-1.8	0.9	19		59	2,8310		0,2,4154	no	coding-synonymous	DOT1L	NM_032482.2		0,2,6165	TT,TC,CC		0.0241,0.0,0.0162		422/1538	2210769	2,12332	2011	4156	6167	SO:0001819	synonymous_variant	84444	24	120976	44				g.chr19:2210769C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1266C>T	chr19.hg19:g.2210769C>T		0					AC004490.1_ENST00000585593.1_RNA	p.P422P	NM_032482.2	NP_115871.1	1	2	3	2.007428	Q8TEK3	DOT1L_HUMAN		14	1302	+		Hepatocellular(1079;0.137)	O60379|Q96JL1	Silent	SNP	ENST00000398665.3	1	1	hg19	c.1266C>T	CCDS42460.1	1	.	.	.	.	.	.	.	.	.	.	C	9.563	1.119008	0.20877	0.0	2.41E-4	ENSG00000104885	ENST00000440640	T	0.43294	0.95	4.84	-1.75	0.08031	4.84	-1.75	0.08031	.	0.214680	0.38778	N	0.001567	T	0.40719	0.1128	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20806	-1.0264	7	0.44086	T	0.13	-23.3002	6.5387	0.22369	0.0:0.2079:0.1517:0.6404	.	.	.	.	L	209	ENSP00000388276:P209L	ENSP00000388276:P209L	P	+	2	0	0	DOT1L	2161769	2161769	0.013000	0.17824	0.899000	0.35326	0.617000	0.37484	-1.172000	0.03112	-0.107000	0.12088	0.561000	0.74099	CCG	0.063347		TCGA-HZ-A49H-01A-11D-A26I-08	0.632	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	1	0	1	2	2	2	2	0	0	0	0	87	87	87	86	1	2	-2.780457	1	0.050000	NM_032482		0	75	75	0	396	394	1		1	0		0	0	87	0	0	1.000000	2.493253e-01	0	0	0	6	0	75	396
ZNF284	342909	broad.mit.edu	37	19	44590411	44590411	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr19:44590411T>G	ENST00000421176.3	+	5	996	c.780T>G	c.(778-780)atT>atG	p.I260M	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AACCTCATATTTGTGAGGAAT	0.408																																						ENST00000421176.3	1	0.570000	1.000000	0.770000	0.990000	0.918239	0.990000	1																										0				15						c.(778-780)atT>atG		zinc finger protein 284							74.0	81.0	79.0					19																	44590411		2185	4288	6473	SO:0001583	missense	342909	0	0					g.chr19:44590411T>G	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.780T>G	chr19.hg19:g.44590411T>G	ENSP00000411032:p.Ile260Met	0					RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR	p.I260M	NM_001037813.2	NP_001032902.1	1	2	3	2.014309	Q2VY69	ZN284_HUMAN		5	996	+		Prostate(69;0.0435)	Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	1	1	hg19	c.780T>G	CCDS46099.1	1	.	.	.	.	.	.	.	.	.	.	t	12.86	2.064710	0.36470	.	.	ENSG00000186026	ENST00000421176	T	0.17528	2.27	2.59	-5.18	0.02840	2.59	-5.18	0.02840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13500	0.0327	N	0.26162	0.8	0.09310	N	1	P	0.52463	0.953	P	0.50860	0.652	T	0.13098	-1.0522	9	0.72032	D	0.01	.	4.1304	0.10146	0.4782:0.0:0.2078:0.3139	.	260	Q2VY69	ZN284_HUMAN	M	260	ENSP00000411032:I260M	ENSP00000411032:I260M	I	+	3	3	3	ZNF284	49282251	49282251	0.000000	0.05858	0.004000	0.12327	0.189000	0.23516	-4.639000	0.00205	-0.871000	0.04042	0.379000	0.24179	ATT	0.064961		TCGA-HZ-A49H-01A-11D-A26I-08	0.408	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	0	0	1	2	2	2	2	0	0	0	0	67	67	67	67	1	2	-11.675770	1	0.050000	NM_001037813		0	14	14	0	585	581	0		1			0	0	67	0	0	0.999745	0	0	0	0	0	0	14	585
PADI1	29943	broad.mit.edu	37	1	17570638	17570638	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:17570638A>T	ENST00000375471.4	+	16	1984	c.1892A>T	c.(1891-1893)gAt>gTt	p.D631V	PADI1_ENST00000537499.1_Missense_Mutation_p.D188V|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Missense_Mutation_p.D146V|PADI1_ENST00000536552.1_Missense_Mutation_p.D102V	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	631					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ATCTTCATTGATGACTACTTG	0.592																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4	1	0.640000	1.000000	0.890000	0.990000	0.957634	0.990000	1																										0				28						c.(1891-1893)gAt>gTt		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)						100.0	91.0	94.0					1																	17570638		2203	4300	6503	SO:0001583	missense	29943	0	0					g.chr1:17570638A>T	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1892A>T	chr1.hg19:g.17570638A>T	ENSP00000364620:p.Asp631Val	0					PADI1_ENST00000536552.1_Missense_Mutation_p.D102V|PADI1_ENST00000413717.2_Missense_Mutation_p.D146V|PADI1_ENST00000537499.1_Missense_Mutation_p.D188V|PADI1_ENST00000460293.1_3'UTR	p.D631V	NM_013358.2	NP_037490.2	1	2	3	2.006151	Q9ULC6	PADI1_HUMAN		16	1984	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	1	1	hg19	c.1892A>T	CCDS178.1	1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.601209	0.66445	.	.	ENSG00000142623	ENST00000375471;ENST00000537499;ENST00000413717;ENST00000536552	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.19	5.19	0.71726	5.19	5.19	0.71726	Protein-arginine deiminase, C-terminal (1);	0.055229	0.64402	D	0.000001	T	0.62221	0.2410	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.71283	-0.4639	10	0.87932	D	0	-21.0955	13.8958	0.63770	1.0:0.0:0.0:0.0	.	146;631	B4DPX6;Q9ULC6	.;PADI1_HUMAN	V	631;188;146;102	ENSP00000364620:D631V;ENSP00000444032:D188V;ENSP00000396697:D146V;ENSP00000444833:D102V	ENSP00000364620:D631V	D	+	2	0	0	PADI1	17443225	17443225	1.000000	0.71417	0.832000	0.32986	0.445000	0.32107	9.063000	0.93927	1.965000	0.57142	0.459000	0.35465	GAT	0.063116		TCGA-HZ-A49H-01A-11D-A26I-08	0.592	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	0	0	1	2	2	2	2	0	0	0	0	81	81	81	80	1	2	-11.302330	1	0.050000	NM_013358		0	12	12	0	425	418	0		1	0		0	0	81	0	0	0.999052	5.400437e-03	0	0	0	4	0	12	425
GRIK3	2899	broad.mit.edu	37	1	37324731	37324731	+	Missense_Mutation	SNP	C	C	T	rs569112734		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:37324731C>T	ENST00000373091.3	-	7	1098	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Missense_Mutation_p.R361H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	361					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.R361H(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GTTCATGAAGCGGCCGCCAAA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18567	0.0		0.0	False		,,,				2504	0.001					ENST00000373091.3	1	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1																										2	Substitution - Missense(2)	p.R361H(2)	prostate(1)|lung(1)	89						c.(1081-1083)cGc>cAc		glutamate receptor, ionotropic, kainate 3							77.0	81.0	80.0					1																	37324731		2203	4300	6503	SO:0001583	missense	2899	7	121412	39				g.chr1:37324731C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1082G>A	chr1.hg19:g.37324731C>T	ENSP00000362183:p.Arg361His	0					GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Missense_Mutation_p.R361H	p.R361H	NM_000831.3	NP_000822.2	1	2	3	2.006151	Q13003	GRIK3_HUMAN		7	1098	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	1	1	hg19	c.1082G>A	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.578993	0.96565	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.83163	-1.69;-1.69	5.68	5.68	0.88126	5.68	5.68	0.88126	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89037	0.6601	M	0.71581	2.175	0.80722	D	1	D;D	0.55605	0.972;0.963	P;P	0.55545	0.778;0.703	D	0.88965	0.3396	10	0.54805	T	0.06	.	19.7849	0.96432	0.0:1.0:0.0:0.0	.	361;361	A9Z1Z8;Q13003	.;GRIK3_HUMAN	H	361	ENSP00000362183:R361H;ENSP00000362185:R361H	ENSP00000362183:R361H	R	-	2	0	0	GRIK3	37097318	37097318	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.785000	0.68998	2.671000	0.90904	0.650000	0.86243	CGC	0.063116		TCGA-HZ-A49H-01A-11D-A26I-08	0.627	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	1	0	1	2	17	2	2	1	1	1	1	108	108	108	108	1	2	-20.000000	1	0.050000	NM_000831		0	83	82	0	437	432	1		1			1	0	108	0	0	1.000000	0	0	0	0	0	0	83	437
DMAP1	55929	broad.mit.edu	37	1	44680450	44680450	+	Silent	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:44680450G>A	ENST00000372289.2	+	3	536	c.273G>A	c.(271-273)aaG>aaA	p.K91K	DMAP1_ENST00000361745.6_Silent_p.K91K|DMAP1_ENST00000315913.5_Silent_p.K91K	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	91					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					GCTCCAAGAAGGTGCGGCCTT	0.612																																						ENST00000372289.2	1	0.520000	1.000000	0.750000	0.990000	0.912844	0.990000	1																										0				16						c.(271-273)aaG>aaA		DNA methyltransferase 1 associated protein 1							93.0	82.0	86.0					1																	44680450		2203	4300	6503	SO:0001819	synonymous_variant	55929	0	0					g.chr1:44680450G>A	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.273G>A	chr1.hg19:g.44680450G>A		0					DMAP1_ENST00000315913.5_Silent_p.K91K|DMAP1_ENST00000361745.6_Silent_p.K91K	p.K91K	NM_019100.4	NP_061973.1	1	2	3	2.006151	Q9NPF5	DMAP1_HUMAN		3	536	+	Acute lymphoblastic leukemia(166;0.155)		A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Silent	SNP	ENST00000372289.2	0	1	hg19	c.273G>A	CCDS509.1	1																																																																																								0.063116		TCGA-HZ-A49H-01A-11D-A26I-08	0.612	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	0	0	1	2	2	2	2	0	0	0	0	85	85	85	85	1	2	-3.799431	1	0.050000	NM_019100		0	10	10	0	416	415	0		1	0		0	0	85	0	0	0.996921	5.223181e-01	0	0	0	70	0	10	416
RBM15	64783	broad.mit.edu	37	1	110883698	110883698	+	Silent	SNP	A	A	C			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr1:110883698A>C	ENST00000369784.3	+	1	2571	c.1671A>C	c.(1669-1671)gcA>gcC	p.A557A	RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000602849.1_Silent_p.A557A|RBM15_ENST00000487146.2_Silent_p.A557A	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	557					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GACATCGGGCACCAGACCCTT	0.532			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3	1	0.630000	1.000000	0.900000	0.990000	0.958998	0.990000	1				Dom	yes			Dom	yes		1	1p13	1p13	64783	T	RNA binding motif protein 15				L	L	MKL1		acute megakaryocytic leukemia		0				3						c.(1669-1671)gcA>gcC		RNA binding motif protein 15							60.0	55.0	57.0					1																	110883698		2203	4300	6503	SO:0001819	synonymous_variant	64783	0	0					g.chr1:110883698A>C	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1671A>C	chr1.hg19:g.110883698A>C		0					RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Silent_p.A557A|RBM15_ENST00000602849.1_Silent_p.A557A	p.A557A	NM_022768.4	NP_073605.4	1	2	3	2.006151	Q96T37	RBM15_HUMAN		1	2571	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Silent	SNP	ENST00000369784.3	1	1	hg19	c.1671A>C	CCDS822.1	1																																																																																								0.063116		TCGA-HZ-A49H-01A-11D-A26I-08	0.532	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	0	0	1	2	2	2	2	0	0	0	0	59	59	59	59	1	2	-10.493610	1	0.050000	NM_022768		0	10	10	0	342	340	0		1	0		0	0	59	0	0	0.996896	1.050370e-03	0	0	0	2	0	10	342
MOV10L1	54456	broad.mit.edu	37	22	50553049	50553049	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr22:50553049C>T	ENST00000262794.5	+	7	1207	c.1124C>T	c.(1123-1125)cCa>cTa	p.P375L	MOV10L1_ENST00000540615.1_Missense_Mutation_p.P355L|MOV10L1_ENST00000395858.3_Missense_Mutation_p.P375L|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.P375L	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	375					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGAATCTCTCCAGGTAGTGGA	0.512																																						ENST00000262794.5	1	0.540000	1.000000	0.800000	0.990000	0.931395	0.990000	1																										0				67						c.(1123-1125)cCa>cTa		Mov10 RISC complex RNA helicase like 1							37.0	42.0	40.0					22																	50553049		2199	4297	6496	SO:0001583	missense	54456	0	0					g.chr22:50553049C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1124C>T	chr22.hg19:g.50553049C>T	ENSP00000262794:p.Pro375Leu	0					MOV10L1_ENST00000540615.1_Missense_Mutation_p.P355L|MOV10L1_ENST00000395858.3_Missense_Mutation_p.P375L|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.P375L	p.P375L	NM_018995.2	NP_061868.1	1	2	3	2.002667	Q9BXT6	M10L1_HUMAN		7	1207	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	1	1	hg19	c.1124C>T	CCDS14084.1	1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875431	0.33162	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85702	-1.83;-1.83;-1.42;-2.02	6.04	4.84	0.62591	6.04	4.84	0.62591	.	0.562070	0.17296	N	0.179461	T	0.80874	0.4707	L	0.54323	1.7	0.80722	D	1	B;P;B;B	0.34724	0.418;0.465;0.335;0.335	B;B;B;B	0.34242	0.075;0.178;0.058;0.08	T	0.75445	-0.3315	10	0.17832	T	0.49	-3.1	13.463	0.61237	0.0:0.9129:0.0:0.0871	.	136;355;375;375	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	L	375;375;375;355	ENSP00000438978:P375L;ENSP00000262794:P375L;ENSP00000379199:P375L;ENSP00000438542:P355L	ENSP00000262794:P375L	P	+	2	0	0	MOV10L1	48895176	48895176	0.715000	0.27946	0.641000	0.29422	0.103000	0.19146	1.020000	0.30027	2.873000	0.98535	0.563000	0.77884	CCA	0.062423		TCGA-HZ-A49H-01A-11D-A26I-08	0.512	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	0	0	1	2	2	2	2	0	0	0	0	43	43	43	43	1	2	-3.445724	1	0.050000	NM_018995		0	9	9	0	346	345	0		1			0	0	43	0	0	0.994293	0	0	0	0	0	0	9	346
BMP2K	55589	broad.mit.edu	37	4	79792163	79792163	+	Missense_Mutation	SNP	G	G	C	rs202184856|rs2114202	byFrequency	TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr4:79792163G>C	ENST00000335016.5	+	11	1624	c.1458G>C	c.(1456-1458)caG>caC	p.Q486H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q486H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	486	Gln/His-rich.		Q -> H (in dbSNP:rs2114202).	Missing (in Ref. 2; CAB70863). {ECO:0000305}.	regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcagcagcagcaccaccacc	0.502													G|||	100	0.0199681	0.0393	0.0115	5008	,	,		11154	0.004		0.0278	False		,,,				2504	0.0082					ENST00000335016.5	1	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1																										0				13						c.(1456-1458)caG>caC		BMP2 inducible kinase							20.0	23.0	22.0					4																	79792163		2153	4198	6351	SO:0001583	missense	55589	0	0					g.chr4:79792163G>C	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1458G>C	chr4.hg19:g.79792163G>C	ENSP00000334836:p.Gln486His	0					BMP2K_ENST00000502871.1_Missense_Mutation_p.Q486H	p.Q486H	NM_198892.1	NP_942595.1	1	2	3	2.005335	Q9NSY1	BMP2K_HUMAN		11	1624	+			O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	1	0	hg19	c.1458G>C	CCDS47083.1	1	41|41	0.018772893772893772|0.018772893772893772	17|17	0.034552845528455285|0.034552845528455285	2|2	0.0055248618784530384|0.0055248618784530384	5|5	0.008741258741258742|0.008741258741258742	17|17	0.022427440633245383|0.022427440633245383	G|G	0.076|0.076	-1.191925|-1.191925	0.01607|0.01607	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74947	.|0.87;-0.89	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|2.205680	.|0.02506	.|U	.|0.091026	T|T	0.30727|0.30727	0.0774|0.0774	N|N	0.22421|0.22421	0.69|0.69	0.31708|0.31708	N|N	0.639909|0.639909	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.29088|0.29088	-1.0023|-1.0023	4|9	.|0.14252	.|T	.|0.57	.|.	5.0772|5.0772	0.14638|0.14638	0.0:0.6216:0.3784:0.0|0.0:0.6216:0.3784:0.0	rs2114202|rs2114202	.|486;486	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	179|486;486;500	.|ENSP00000421768:Q486H;ENSP00000334836:Q486H	.|ENSP00000264889:Q500H	A|Q	+|+	1|3	0|2	0|2	BMP2K|BMP2K	80011187|80011187	80011187|80011187	0.025000|0.025000	0.19082|0.19082	0.098000|0.098000	0.21074|0.21074	0.021000|0.021000	0.10359|0.10359	-3.148000|-3.148000	0.00583|0.00583	-1.546000|-1.546000	0.01717|0.01717	-1.555000|-1.555000	0.00892|0.00892	GCA|CAG	0.062885		TCGA-HZ-A49H-01A-11D-A26I-08	0.502	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	0	0	2	2	2	2	0	0	0	0	37	37	37	27	1	2	-0.981362	0	0.050000	NM_017593		0	45	13	0	316	226	1		1	1		0	0	37	0	0	1.000000	5.412537e-01	0	4	0	10	0	45	316
ADAMTS12	81792	broad.mit.edu	37	5	33616037	33616038	+	Nonsense_Mutation	DNP	TC	TC	GT			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr5:33616037_33616038TC>GT	ENST00000504830.1	-	15	2618_2619	c.2283_2284GA>AC	c.(2281-2286)tgGAac>tgACac	p.761_762WN>*H	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.676_677WN>*H|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	761	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W761*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGTTCCCGTTCCACTGGATAA	0.465										HNSCC(64;0.19)																												ENST00000504830.1	1	0.660000	1.000000	0.850000|0.840000	0.990000	0.946311|0.945889	0.990000	1																										1	Substitution - Nonsense(1)	|p.W761*(1)	large_intestine(1)	216						c.(2284-2286)Aac>Cac|c.(2281-2283)tgG>tgA		ADAM metallopeptidase with thrombospondin type 1 motif, 12																																				SO:0001587	stop_gained	81792	0	0					g.chr5:33616037T>G|g.chr5:33616038C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2283_2284delinsGT	chr5.hg19:g.33616037_33616038delinsGT	ENSP00000422554:p.W761_N762delins*H	0	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N677H|ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.W676*|ADAMTS12_ENST00000504582.1_5'UTR	p.N762H|p.W761*	NM_030955.2	NP_112217.2	0	1	1	1.998981	P58397	ATS12_HUMAN		15	2619|2618	-			A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000504830.1	1|0	1	hg19	c.2284A>C|c.2283G>A	CCDS34140.1	1																									5.51	5.51	0.81932																																												0			33651794|33651795														0.037731		TCGA-HZ-A49H-01A-11D-A26I-08	0.465	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	0	0	1	2	2	2	2	0	0	0	0	93	93|95	93|95	93|95	1	2	-14.982860|-3.258301	1	0.050000	NM_030955		0	18	18	0	629|630	624|625	0		1	0		0	0	93|95	0	0	0.999981	0	0	0	0	1	0	18	629
ATP10B	23120	broad.mit.edu	37	5	160034027	160034027	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr5:160034027G>A	ENST00000327245.5	-	19	3751	c.2905C>T	c.(2905-2907)Cca>Tca	p.P969S		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	969					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGCGGTCTGGCTTCTGTAGT	0.443																																						ENST00000327245.5	1	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1																										0				75						c.(2905-2907)Cca>Tca		ATPase, class V, type 10B							106.0	99.0	101.0					5																	160034027		1932	4118	6050	SO:0001583	missense	23120	0	0					g.chr5:160034027G>A	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2905C>T	chr5.hg19:g.160034027G>A	ENSP00000313600:p.Pro969Ser	0						p.P969S	NM_025153.2	NP_079429.2	0	1	1	1.998932	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	19	3751	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Q9H725	Missense_Mutation	SNP	ENST00000327245.5	1	1	hg19	c.2905C>T	CCDS43394.1	1	.	.	.	.	.	.	.	.	.	.	G	7.993	0.753803	0.15778	.	.	ENSG00000118322	ENST00000327245	T	0.05996	3.36	5.05	0.51	0.16983	5.05	0.51	0.16983	HAD-like domain (1);	0.350809	0.30742	N	0.008963	T	0.04588	0.0125	L	0.31845	0.965	0.20196	N	0.999925	B	0.30146	0.27	B	0.34931	0.192	T	0.36672	-0.9738	9	.	.	.	.	3.8603	0.08993	0.0801:0.2168:0.4445:0.2586	.	969	O94823	AT10B_HUMAN	S	969	ENSP00000313600:P969S	.	P	-	1	0	0	ATP10B	159966605	159966605	0.572000	0.26668	0.873000	0.34254	0.294000	0.27393	0.461000	0.21940	0.526000	0.28541	-0.302000	0.09304	CCA	0.037731		TCGA-HZ-A49H-01A-11D-A26I-08	0.443	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	1	0	1	2	2	2	2	0	0	0	0	56	56	56	56	1	2	-19.997180	1	0.050000	NM_025153		0	67	68	0	545	541	1		1	0		0	0	56	0	0	1.000000	9.781551e-02	0	1	0	4	0	67	545
NRSN1	140767	broad.mit.edu	37	6	24134622	24134622	+	Missense_Mutation	SNP	C	C	T	rs143725119		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr6:24134622C>T	ENST00000378491.4	+	3	368	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	NRSN1_ENST00000378475.1_Missense_Mutation_p.R23C|NRSN1_ENST00000378478.1_Missense_Mutation_p.R23C	NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TGGTTACCAGCGCTATGGAGT	0.517																																						ENST00000378491.4	1	0.680000	1.000000	0.980000	0.990000	0.972313	0.990000	1																										0				22						c.(67-69)Cgc>Tgc		neurensin 1		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	135.0	122.0	127.0		67	5.8	1.0	6	dbSNP_134	127	0,8600		0,0,4300	yes	missense	NRSN1	NM_080723.4	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	23/196	24134622	2,13004	2203	4300	6503	SO:0001583	missense	140767	5	121412	39				g.chr6:24134622C>T	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.67C>T	chr6.hg19:g.24134622C>T	ENSP00000367752:p.Arg23Cys	0					NRSN1_ENST00000378478.1_Missense_Mutation_p.R23C|NRSN1_ENST00000378475.1_Missense_Mutation_p.R23C	p.R23C	NM_080723.4	NP_542454.3	1	2	3	2.003946				3	368	+				Missense_Mutation	SNP	ENST00000378491.4	1	1	hg19	c.67C>T	CCDS4549.1	1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652867	0.88056	4.54E-4	0.0	ENSG00000152954	ENST00000378491;ENST00000378478;ENST00000378477;ENST00000378475	T;T;T	0.18338	2.22;2.22;2.22	5.85	5.85	0.93711	5.85	5.85	0.93711	.	0.105826	0.64402	D	0.000003	T	0.27663	0.0680	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	P	0.56700	0.804	T	0.01004	-1.1484	10	0.87932	D	0	.	20.1634	0.98142	0.0:1.0:0.0:0.0	.	23	Q8IZ57	NRSN1_HUMAN	C	23	ENSP00000367752:R23C;ENSP00000367739:R23C;ENSP00000367736:R23C	ENSP00000367736:R23C	R	+	1	0	0	NRSN1	24242601	24242601	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.736000	0.55052	2.773000	0.95371	0.655000	0.94253	CGC	0.062654		TCGA-HZ-A49H-01A-11D-A26I-08	0.517	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	0	0	1	2	2	2	2	0	0	0	0	53	53	53	52	1	2	-10.452130	1	0.050000	NM_080723		0	10	10	0	313	311	0		1			0	0	53	0	0	0.996902	0	0	0	0	0	0	10	313
ZBTB22	9278	broad.mit.edu	37	6	33284203	33284203	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr6:33284203G>A	ENST00000431845.2	-	2	642	c.491C>T	c.(490-492)aCc>aTc	p.T164I	TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.T164I|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGTGACAGAGGTGGCTGCAGC	0.642																																						ENST00000431845.2	1	0.720000	1.000000	0.950000	0.990000	0.972032	0.990000	1																										0				21						c.(490-492)aCc>aTc		zinc finger and BTB domain containing 22							73.0	71.0	71.0					6																	33284203		2202	4300	6502	SO:0001583	missense	9278	0	0					g.chr6:33284203G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.491C>T	chr6.hg19:g.33284203G>A	ENSP00000407545:p.Thr164Ile	0					TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.T164I	p.T164I	NM_005453.4	NP_005444.4	1	2	3	2.003946	O15209	ZBT22_HUMAN		2	642	-			B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	1	1	hg19	c.491C>T	CCDS4775.1	1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314965	0.23908	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.06142	3.34;3.34	3.53	3.53	0.40419	3.53	3.53	0.40419	.	0.500652	0.15013	N	0.285427	T	0.01421	0.0046	N	0.14661	0.345	0.26247	N	0.978772	B	0.26975	0.165	B	0.22601	0.04	T	0.46775	-0.9167	10	0.33141	T	0.24	.	10.8007	0.46487	0.0:0.0:1.0:0.0	.	164	O15209	ZBT22_HUMAN	I	164	ENSP00000404403:T164I;ENSP00000407545:T164I	ENSP00000404403:T164I	T	-	2	0	0	ZBTB22	33392181	33392181	0.997000	0.39634	0.997000	0.53966	0.983000	0.72400	0.435000	0.21510	1.990000	0.58119	0.551000	0.68910	ACC	0.062654		TCGA-HZ-A49H-01A-11D-A26I-08	0.642	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2	0	0	1	2	2	2	2	0	0	0	0	107	107	107	106	1	2	-14.446480	1	0.050000			0	17	17	0	584	581	0		1	0		0	0	107	0	0	0.999964	5.185119e-01	0	1	0	58	0	17	584
GRM1	2911	broad.mit.edu	37	6	146720262	146720262	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr6:146720262G>A	ENST00000282753.1	+	7	2322	c.2087G>A	c.(2086-2088)cGg>cAg	p.R696Q	GRM1_ENST00000492807.2_Missense_Mutation_p.R696Q|GRM1_ENST00000392299.2_Missense_Mutation_p.R696Q|GRM1_ENST00000361719.2_Missense_Mutation_p.R696Q|GRM1_ENST00000355289.4_Missense_Mutation_p.R696Q|GRM1_ENST00000507907.1_Missense_Mutation_p.R696Q			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	696			R -> W (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ATCTGCACCCGGAAGCCCAGG	0.512																																						ENST00000282753.1	1	0.460000	0.970000	0.600000	0.770000	0.778958	0.770000	1																										0				126						c.(2086-2088)cGg>cAg		glutamate receptor, metabotropic 1							134.0	132.0	133.0					6																	146720262		2203	4300	6503	SO:0001583	missense	2911	4	121412	41				g.chr6:146720262G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2087G>A	chr6.hg19:g.146720262G>A	ENSP00000282753:p.Arg696Gln	0					GRM1_ENST00000492807.2_Missense_Mutation_p.R696Q|GRM1_ENST00000355289.4_Missense_Mutation_p.R696Q|GRM1_ENST00000507907.1_Missense_Mutation_p.R696Q|GRM1_ENST00000361719.2_Missense_Mutation_p.R696Q|GRM1_ENST00000392299.2_Missense_Mutation_p.R696Q	p.R696Q			0	1	1	1.991473	Q13255	GRM1_HUMAN		7	2322	+		Ovarian(120;0.0387)	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	1	1	hg19	c.2087G>A	CCDS5209.1	0	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016814	0.35606	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26;-2.26;-2.26	5.51	5.51	0.81932	5.51	5.51	0.81932	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.84647	0.5518	L	0.37850	1.14	0.58432	D	0.999998	D;D;D	0.76494	0.997;0.999;0.997	P;D;P	0.64321	0.852;0.924;0.852	T	0.80883	-0.1183	10	0.06365	T	0.9	.	19.4081	0.94656	0.0:0.0:1.0:0.0	.	696;696;696	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	Q	696	ENSP00000354896:R696Q;ENSP00000376119:R696Q;ENSP00000424095:R696Q;ENSP00000282753:R696Q;ENSP00000347437:R696Q;ENSP00000425599:R696Q	ENSP00000282753:R696Q	R	+	2	0	0	GRM1	146761955	146761955	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.876000	0.87215	2.604000	0.88044	0.585000	0.79938	CGG	0.035778		TCGA-HZ-A49H-01A-11D-A26I-08	0.512	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	0	0	1	2	2	2	2	0	0	0	0	114	114	114	114	1	2	-2.193374	0	0.050000	NM_000838		0	17	17	0	846	838	0		1			0	0	114	0	0	0.999961	0	0	0	0	0	0	17	846
CDK5RAP2	55755	broad.mit.edu	37	9	123253652	123253652	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chr9:123253652A>C	ENST00000349780.4	-	13	1594	c.1415T>G	c.(1414-1416)tTg>tGg	p.L472W	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.L472W|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.L472W|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.L472W	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	472					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TTGATTGTGCAATTTTTTATT	0.318																																						ENST00000349780.4	1	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1																										0				58						c.(1414-1416)tTg>tGg		CDK5 regulatory subunit associated protein 2							205.0	182.0	189.0					9																	123253652		2203	4300	6503	SO:0001583	missense	55755	0	0					g.chr9:123253652A>C	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.1415T>G	chr9.hg19:g.123253652A>C	ENSP00000343818:p.Leu472Trp	0					CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.L472W|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.L472W|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.L472W	p.L472W	NM_018249.4	NP_060719.4	0	1	1	1.999863	Q96SN8	CK5P2_HUMAN		13	1594	-			Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	1	1	hg19	c.1415T>G	CCDS6823.1	1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.768643	0.31320	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.76	4.59	0.56863	5.76	4.59	0.56863	.	0.528460	0.15845	N	0.241808	T	0.64778	0.2629	M	0.66939	2.045	0.09310	N	0.999999	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.68943	0.961;0.961;0.944;0.915	T	0.56998	-0.7886	10	0.66056	D	0.02	.	11.7091	0.51614	0.8524:0.1476:0.0:0.0	.	273;472;472;472	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	W	472;472;472;472;474	ENSP00000354065:L472W;ENSP00000352258:L472W;ENSP00000343818:L472W;ENSP00000353317:L472W	ENSP00000341695:L474W	L	-	2	0	0	CDK5RAP2	122293473	122293473	0.059000	0.20769	0.001000	0.08648	0.030000	0.12068	3.122000	0.50446	0.969000	0.38237	0.528000	0.53228	TTG	0.037975		TCGA-HZ-A49H-01A-11D-A26I-08	0.318	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	1	0	1	2	2	2	2	0	0	0	0	31	31	31	30	1	2	-20.000000	1	0.050000	NM_018249		0	36	36	0	250	250	1		1	0		0	0	31	0	0	1.000000	4.613411e-02	0	0	0	3	0	36	250
FAM47A	158724	broad.mit.edu	37	X	34149477	34149477	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chrX:34149477C>T	ENST00000346193.3	-	1	970	c.919G>A	c.(919-921)Gag>Aag	p.E307K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	307										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGTGGAGTCTCGAAAGGCCGA	0.612																																						ENST00000346193.3	1	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1																										0				97						c.(919-921)Gag>Aag		family with sequence similarity 47, member A							20.0	23.0	22.0					X																	34149477		2195	4297	6492	SO:0001583	missense	158724	1	121366	32				g.chrX:34149477C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.919G>A	chrX.hg19:g.34149477C>T	ENSP00000345029:p.Glu307Lys							p.E307K	NM_203408.3	NP_981953.2	0	1	1		Q5JRC9	FA47A_HUMAN		1	970	-			A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	1	1	hg19	c.919G>A	CCDS43926.1	1	.	.	.	.	.	.	.	.	.	.	c	9.037	0.988840	0.18966	.	.	ENSG00000185448	ENST00000346193	T	0.19806	2.12	0.13	0.13	0.14746	0.13	0.13	0.14746	.	.	.	.	.	T	0.11367	0.0277	L	0.52126	1.63	0.09310	N	1	P	0.49253	0.921	B	0.29353	0.101	T	0.30060	-0.9991	8	0.16896	T	0.51	.	.	.	.	.	307	Q5JRC9	FA47A_HUMAN	K	307	ENSP00000345029:E307K	ENSP00000345029:E307K	E	-	1	0	0	FAM47A	34059398	34059398	0.730000	0.28100	0.064000	0.19789	0.064000	0.16182	0.440000	0.21592	0.171000	0.19730	0.173000	0.16961	GAG	0.050000		TCGA-HZ-A49H-01A-11D-A26I-08	0.612	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	1	0	1	2	2	2	2	0	0	0	0	36	36	36	34	1	2	-20.000000	1	0.050000	NM_203408		0	36	36	0	197	196	1		1			0	0	36	0	0	1.000000	0	0	0	0	0	0	36	197
HS6ST2	90161	broad.mit.edu	37	X	131762528	131762528	+	Missense_Mutation	SNP	C	C	T	rs192014750		TCGA-HZ-A49H-01A-11D-A26I-08	TCGA-HZ-A49H-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23635060-618f-4272-9a34-284c65318d9a	27fb1352-19ad-417f-acbe-a2af1c099544	g.chrX:131762528C>T	ENST00000370836.2	-	4	1956	c.1541G>A	c.(1540-1542)cGt>cAt	p.R514H	HS6ST2_ENST00000406696.3_Missense_Mutation_p.R240H|HS6ST2_ENST00000521489.1_Missense_Mutation_p.R554H|HS6ST2_ENST00000370833.2_Missense_Mutation_p.R408H	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	514					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TTGTTCCTGACGCTTTCGCCT	0.483													C|||	2	0.000529801	0.0	0.0	3775	,	,		15036	0.002		0.0	False		,,,				2504	0.0					ENST00000370836.2	1	0.480000	1.000000	0.630000	0.820000	0.818909	0.820000	1																										0				9						c.(1540-1542)cGt>cAt		heparan sulfate 6-O-sulfotransferase 2							108.0	105.0	106.0					X																	131762528		1974	4127	6101	SO:0001583	missense	90161	14	120900	42				g.chrX:131762528C>T	AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1541G>A	chrX.hg19:g.131762528C>T	ENSP00000359873:p.Arg514His						HS6ST2_ENST00000521489.1_Missense_Mutation_p.R554H|HS6ST2_ENST00000406696.3_Missense_Mutation_p.R240H|HS6ST2_ENST00000370833.2_Missense_Mutation_p.R408H	p.R514H	NM_147175.3	NP_671704.3	0	1	1		Q96MM7	H6ST2_HUMAN		4	1956	-	Acute lymphoblastic leukemia(192;0.000127)		B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	ENST00000370836.2	0	1	hg19	c.1541G>A	CCDS48169.1	0	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	17.93	3.508910	0.64410	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000406696;ENST00000370833	T;T;T;T;T	0.81330	-1.4;-0.86;-0.77;-1.48;-1.25	6.01	4.25	0.50352	6.01	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	L	0.54323	1.7	0.45899	D	0.998743	P;P;B	0.43231	0.801;0.801;0.019	B;B;B	0.27500	0.08;0.08;0.004	T	0.69960	-0.5003	10	0.72032	D	0.01	-3.7585	10.293	0.43608	0.0:0.7937:0.1322:0.0742	.	514;554;240	Q96MM7;E9PDY5;B7Z5H6	H6ST2_HUMAN;.;.	H	368;514;554;240;408	ENSP00000359874:R368H;ENSP00000359873:R514H;ENSP00000429473:R554H;ENSP00000384013:R240H;ENSP00000359870:R408H	ENSP00000359870:R408H	R	-	2	0	0	HS6ST2	131590209	131590209	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.070000	0.71220	0.665000	0.31066	0.594000	0.82650	CGT	0.050000		TCGA-HZ-A49H-01A-11D-A26I-08	0.483	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058332.3	0	0	1	2	2	2	2	0	0	0	0	80	80	80	80	1	2	-11.118570	1	0.050000	NM_147174		0	15	14	0	715	712	0		1	0		0	0	80	0	0	0.999865	0	0	0	0	1	0	15	715
