#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_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_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	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_tissue_types_affected	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	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_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_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
HMCN1	83872	broad.mit.edu	37	1	185815175	185815175	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr1:185815175A>T	ENST00000271588.4	+	2	515	c.286A>T	c.(286-288)Att>Ttt	p.I96F	HMCN1_ENST00000367492.2_Missense_Mutation_p.I96F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	96	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCAGTGACAATTACCACAGA	0.358																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(286-288)Att>Ttt		Homo sapiens hemicentin 1 (HMCN1), mRNA.							107.0	105.0	106.0					1																	185815175		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185815175A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.286A>T	1.37:g.185815175A>T	ENSP00000271588:p.Ile96Phe						p.I96F	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			1	515	+			96			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.286A>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.048330	0.55110	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.97553	-4.43;-4.43	5.48	3.18	0.36537	von Willebrand factor, type A (1);	0.104580	0.64402	D	0.000008	D	0.94311	0.8172	N	0.19112	0.55	0.58432	D	0.999993	P	0.45672	0.864	P	0.51079	0.658	D	0.92061	0.5656	10	0.72032	D	0.01	.	7.3365	0.26613	0.8221:0.0:0.1779:0.0	.	96	Q96RW7	HMCN1_HUMAN	F	96	ENSP00000271588:I96F;ENSP00000356462:I96F	ENSP00000271588:I96F	I	+	1	0	HMCN1	184081798	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.683000	0.61679	0.387000	0.25024	0.460000	0.39030	ATT		0.358	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
OR5D13	390142	broad.mit.edu	37	11	55541191	55541191	+	Missense_Mutation	SNP	C	C	A	rs529842639		TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr11:55541191C>A	ENST00000361760.1	+	1	278	c.278C>A	c.(277-279)aCc>aAc	p.T93N		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GAATACAGAACCATCTCTTTC	0.398																																						uc010ril.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(277-279)aCc>aAc		Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.							192.0	183.0	186.0					11																	55541191		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541191C>A	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.278C>A	11.37:g.55541191C>A	ENSP00000354800:p.Thr93Asn						p.T93N	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			0	278	+		all_epithelial(135;0.196)	93					Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.278C>A	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	C	3.100	-0.184926	0.06340	.	.	ENSG00000198877	ENST00000361760	T	0.01981	4.52	3.52	1.46	0.22682	GPCR, rhodopsin-like superfamily (1);	0.512698	0.14505	U	0.315464	T	0.04634	0.0126	M	0.72353	2.195	0.09310	N	1	B	0.23854	0.092	B	0.29524	0.103	T	0.21518	-1.0243	10	0.59425	D	0.04	-14.0749	11.7699	0.51951	0.0:0.622:0.378:0.0	.	93	Q8NGL4	OR5DD_HUMAN	N	93	ENSP00000354800:T93N	ENSP00000354800:T93N	T	+	2	0	OR5D13	55297767	0.000000	0.05858	0.082000	0.20525	0.017000	0.09413	-3.411000	0.00480	0.259000	0.21709	0.486000	0.48141	ACC		0.398	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967	
ABCC9	10060	broad.mit.edu	37	12	22069980	22069980	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:22069980T>C	ENST00000261201.4	-	4	463	c.464A>G	c.(463-465)tAc>tGc	p.Y155C	ABCC9_ENST00000261200.4_Missense_Mutation_p.Y155C|ABCC9_ENST00000345162.2_Missense_Mutation_p.Y155C	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	155					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	AGACTGACAGTACTTAACCAA	0.388																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(463-465)tAc>tGc		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						176.0	173.0	174.0					12																	22069980		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22069980T>C	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.464A>G	12.37:g.22069980T>C	ENSP00000261201:p.Tyr155Cys					ABCC9_uc001rfi.1_Missense_Mutation_p.Y155C	p.Y155C	NM_020297	NP_064693	O60706	ABCC9_HUMAN			3	484	-			155					O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.464A>G	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	T	7.793	0.711930	0.15306	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162	D;D;D	0.92149	-2.97;-2.98;-2.97	5.09	5.09	0.68999	.	0.330140	0.32563	N	0.005927	D	0.90926	0.7148	L	0.57536	1.79	0.41330	D	0.987232	B;P	0.48230	0.005;0.907	B;B	0.44163	0.004;0.443	D	0.91028	0.4862	10	0.44086	T	0.13	-4.7903	14.8679	0.70430	0.0:0.0:0.0:1.0	.	155;155	O60706;O60706-2	ABCC9_HUMAN;.	C	155	ENSP00000261200:Y155C;ENSP00000261201:Y155C;ENSP00000261202:Y155C	ENSP00000261200:Y155C	Y	-	2	0	ABCC9	21961247	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	3.959000	0.56744	1.920000	0.55613	0.528000	0.53228	TAC		0.388	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
PKP2	5318	broad.mit.edu	37	12	33030958	33030958	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:33030958A>C	ENST00000070846.6	-	3	880	c.856T>G	c.(856-858)Tcc>Gcc	p.S286A	PKP2_ENST00000340811.4_Missense_Mutation_p.S286A	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	286					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAGGACCTGGAAGCCCTGTTC	0.652																																						uc001rlj.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(856-858)Tcc>Gcc		Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.							54.0	50.0	51.0					12																	33030958		2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33030958A>C	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.856T>G	12.37:g.33030958A>C	ENSP00000070846:p.Ser286Ala					PKP2_uc001rlk.4_Missense_Mutation_p.S286A|PKP2_uc010skj.2_Missense_Mutation_p.S286A	p.S286A	NM_004572	NP_004563	Q99959	PKP2_HUMAN			2	971	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		286					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.856T>G	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.511731	0.00984	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.80480	-1.38;-1.35	5.46	-6.43	0.01926	.	159.245000	0.01070	N	0.004803	T	0.68274	0.2983	L	0.42245	1.32	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.50617	-0.8807	10	0.16420	T	0.52	-2.1327	5.522	0.16938	0.4943:0.1294:0.3089:0.0675	.	286;286;286	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	A	286	ENSP00000342800:S286A;ENSP00000070846:S286A	ENSP00000070846:S286A	S	-	1	0	PKP2	32922225	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.935000	0.01550	-0.657000	0.05373	-0.340000	0.08031	TCC		0.652	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572	
MFSD5	84975	broad.mit.edu	37	12	53647741	53647741	+	Silent	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:53647741G>A	ENST00000329548.4	+	2	1313	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	MFSD5_ENST00000534842.1_Silent_p.Q481Q	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	374					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						AGACAGAGCAGGCTGGTGTAC	0.502																																						uc001sch.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(1441-1443)caG>caA		Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.							149.0	138.0	142.0					12																	53647741		2203	4300	6503	SO:0001819	synonymous_variant	84975				transport	integral to membrane		g.chr12:53647741G>A	AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.1122G>A	12.37:g.53647741G>A						MFSD5_uc001sci.2_Silent_p.Q374Q|MFSD5_uc021qye.1_Silent_p.Q374Q	p.Q481Q	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN			1	1590	+			374					G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Silent	SNP	ENST00000329548.4	37	c.1443G>A	CCDS8851.1																																																																																				0.502	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406896.1	NM_032889	
GLT1D1	144423	broad.mit.edu	37	12	129360490	129360490	+	Missense_Mutation	SNP	G	G	A	rs146263464	byFrequency	TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:129360490G>A	ENST00000442111.2	+	2	188	c.100G>A	c.(100-102)Gtt>Att	p.V34I	GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000537468.1_Missense_Mutation_p.V23I|GLT1D1_ENST00000281703.6_Missense_Mutation_p.V34I			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	34					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GCACGTGTGCGTTTTGAAGGA	0.473													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17088	0.0		0.0	False		,,,				2504	0.0					uc010tbh.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(67-69)Gtt>Att		Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.		G	ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	150.0	152.0	152.0		100	-6.6	0.0	12	dbSNP_134	152	13,8587	9.8+/-36.6	0,13,4287	yes	missense	GLT1D1	NM_144669.1	29	0,17,6486	AA,AG,GG		0.1512,0.0908,0.1307	benign	34/267	129360490	17,12989	2203	4300	6503	SO:0001583	missense	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129360490G>A		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.100G>A	12.37:g.129360490G>A	ENSP00000394692:p.Val34Ile					GLT1D1_uc001uhx.1_Missense_Mutation_p.V34I|GLT1D1_uc001uhy.1_Non-coding_Transcript	p.V23I	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	1	76	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		34					Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37	c.67G>A		.	.	.	.	.	.	.	.	.	.	G	3.525	-0.096988	0.07010	9.08E-4	0.001512	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.48201	0.83;0.82;0.92	5.54	-6.59	0.01830	.	0.750686	0.12852	N	0.433825	T	0.18215	0.0437	N	0.10685	0.025	0.26759	N	0.970033	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.08146	-1.0736	10	0.29301	T	0.29	-7.2202	4.1895	0.10414	0.3051:0.1938:0.406:0.0951	.	23;34	F5H088;Q96MS3-2	.;.	I	34;34;23	ENSP00000394692:V34I;ENSP00000281703:V34I;ENSP00000438158:V23I	ENSP00000281703:V34I	V	+	1	0	GLT1D1	127926443	0.000000	0.05858	0.008000	0.14137	0.587000	0.36485	-0.806000	0.04525	-1.715000	0.01389	-1.099000	0.02127	GTT		0.473	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669	
VRTN	55237	broad.mit.edu	37	14	74824348	74824348	+	Missense_Mutation	SNP	C	C	T	rs200794001		TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr14:74824348C>T	ENST00000256362.4	+	2	1103	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	288					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCTCTGTGAGCGCTACAGCGT	0.647																																						uc021rwl.1																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(862-864)Cgc>Tgc		Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.							43.0	42.0	42.0					14																	74824348		2203	4300	6503	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824348C>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.862C>T	14.37:g.74824348C>T	ENSP00000256362:p.Arg288Cys					VRTN_uc001xpw.4_Missense_Mutation_p.R288C	p.R288C	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN			0	862	+			288					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.862C>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266044	0.59540	.	.	ENSG00000133980	ENST00000256362	T	0.52057	0.68	5.2	5.2	0.72013	.	0.150995	0.44097	D	0.000488	T	0.54415	0.1857	L	0.34521	1.04	0.41995	D	0.990869	D	0.76494	0.999	D	0.63033	0.91	T	0.57159	-0.7859	10	0.87932	D	0	0.8068	13.0375	0.58881	0.2225:0.7775:0.0:0.0	.	288	Q9H8Y1	VRTN_HUMAN	C	288	ENSP00000256362:R288C	ENSP00000256362:R288C	R	+	1	0	VRTN	73894101	1.000000	0.71417	0.141000	0.22245	0.716000	0.41182	2.757000	0.47557	2.704000	0.92352	0.561000	0.74099	CGC		0.647	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228	
PLA2G4E	123745	broad.mit.edu	37	15	42298316	42298316	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr15:42298316C>T	ENST00000399518.3	-	4	883	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.V104M|CTD-2382E5.2_ENST00000552704.1_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	115	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AACTCTAGCACGTTCTAGGGG	0.507																																						uc021sjp.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(397-399)Gtg>Atg		Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.							122.0	124.0	123.0					15																	42298316		2086	4226	6312	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42298316C>T		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.397G>A	15.37:g.42298316C>T	ENSP00000382434:p.Val133Met						p.V133M	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	3	397	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	115			C2.		Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	c.397G>A	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298110	0.60086	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.41065	1.01;2.89	5.66	3.6	0.41247	.	0.173268	0.29286	U	0.012599	T	0.54029	0.1833	M	0.69358	2.11	0.34580	D	0.714372	D	0.61697	0.99	P	0.60117	0.869	T	0.65569	-0.6136	10	0.87932	D	0	-5.6365	7.528	0.27666	0.0:0.6507:0.0:0.3493	.	104	C9JK77	.	M	133;104	ENSP00000382434:V133M;ENSP00000413897:V104M	ENSP00000382434:V133M	V	-	1	0	PLA2G4E	40085608	0.069000	0.21087	0.786000	0.31890	0.973000	0.67179	0.254000	0.18314	0.625000	0.30304	0.563000	0.77884	GTG		0.507	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442	
DET1	55070	broad.mit.edu	37	15	89070986	89070986	+	Missense_Mutation	SNP	G	G	A	rs201960185	byFrequency	TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr15:89070986G>A	ENST00000268148.8	-	3	1260	c.1115C>T	c.(1114-1116)aCg>aTg	p.T372M	DET1_ENST00000444300.1_Missense_Mutation_p.T383M|DET1_ENST00000564406.1_Missense_Mutation_p.T383M	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	372						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CACCTCTGTCGTCACCATATT	0.433													G|||	3	0.000599042	0.0	0.0	5008	,	,		20398	0.001		0.001	False		,,,				2504	0.001					uc002bmq.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1147-1149)aCg>aTg		Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.		G	MET/THR,MET/THR	0,3848		0,0,1924	61.0	59.0	59.0		1115,1148	5.9	1.0	15		59	4,8270		0,4,4133	yes	missense,missense	DET1	NM_001144074.1,NM_017996.3	81,81	0,4,6057	AA,AG,GG		0.0483,0.0,0.033	possibly-damaging,possibly-damaging	372/551,383/562	89070986	4,12118	1924	4137	6061	SO:0001583	missense	55070					nucleus		g.chr15:89070986G>A	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1115C>T	15.37:g.89070986G>A	ENSP00000268148:p.Thr372Met					DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.T372M|DET1_uc010bnk.2_Intron	p.T383M	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		3	1337	-	Lung NSC(78;0.105)|all_lung(78;0.182)		372					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.1148C>T	CCDS45344.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.75	3.465555	0.63513	0.0	4.83E-4	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.91	5.91	0.95273	.	0.150748	0.64402	D	0.000019	T	0.64046	0.2563	L	0.59436	1.845	0.40609	D	0.98165	P;P	0.48694	0.914;0.914	P;P	0.48738	0.588;0.588	T	0.67833	-0.5568	9	0.72032	D	0.01	-18.6986	16.3803	0.83458	0.0:0.1314:0.8686:0.0	.	372;383	Q7L5Y6;B3KNN6	DET1_HUMAN;.	M	383;372	.	ENSP00000268148:T372M	T	-	2	0	DET1	86871990	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.025000	0.64097	2.793000	0.96121	0.655000	0.94253	ACG		0.433	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2	NM_017996	
CACNA1H	8912	broad.mit.edu	37	16	1257299	1257299	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr16:1257299G>A	ENST00000348261.5	+	14	3180	c.2932G>A	c.(2932-2934)Gtg>Atg	p.V978M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V978M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V978M|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	978					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GGACTGGAACGTGGTCCTGTA	0.632																																						uc002cks.3																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(2932-2934)Gtg>Atg		Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	Flunarizine(DB04841)|Mibefradil(DB01388)						35.0	35.0	35.0					16																	1257299		2042	4196	6238	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1257299G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2932G>A	16.37:g.1257299G>A	ENSP00000334198:p.Val978Met					CACNA1H_uc002ckt.3_Missense_Mutation_p.V978M|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank	p.V978M	NM_021098	NP_066921	O95180	CAC1H_HUMAN			13	3180	+		Hepatocellular(780;0.00369)	978					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.2932G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638498	0.67130	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97404	-4.37;-4.37	3.3	3.3	0.37823	Ion transport (1);	0.407828	0.24375	N	0.039067	D	0.96116	0.8734	L	0.28344	0.845	0.32050	N	0.597093	D;D	0.89917	0.973;1.0	B;D	0.85130	0.408;0.997	D	0.94311	0.7545	10	0.51188	T	0.08	.	7.8934	0.29691	0.1153:0.0:0.8847:0.0	.	978;978	O95180-2;O95180	.;CAC1H_HUMAN	M	978	ENSP00000334198:V978M;ENSP00000351401:V978M	ENSP00000334198:V978M	V	+	1	0	CACNA1H	1197300	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.361000	0.66092	1.700000	0.51204	0.561000	0.74099	GTG		0.632	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407	
ALG1	56052	broad.mit.edu	37	16	5129756	5129756	+	Silent	SNP	A	A	G			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr16:5129756A>G	ENST00000262374.5	+	9	940	c.909A>G	c.(907-909)gaA>gaG	p.E303E	ALG1_ENST00000588623.1_Silent_p.E192E|ALG1_ENST00000544428.1_Silent_p.E192E	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	303					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)	p.E303E(3)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CAGAGTTTGAACAACTGACTC	0.443																																						uc002cym.3																			3	Substitution - coding silent(3)	p.E303E(6)	lung(2)|urinary_tract(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(907-909)gaA>gaG		Homo sapiens asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) (ALG1), mRNA.							89.0	85.0	87.0					16																	5129756		2197	4300	6497	SO:0001819	synonymous_variant	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5129756A>G	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.909A>G	16.37:g.5129756A>G						ALG1_uc002cyj.3_Silent_p.E192E|ALG1_uc010bue.3_Silent_p.E192E	p.E303E	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN			8	950	+		Ovarian(90;0.0164)	303					B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Silent	SNP	ENST00000262374.5	37	c.909A>G	CCDS10528.1																																																																																				0.443	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2	NM_019109	
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	p.R175H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs189343211		TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	57	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667																																						uc010wfn.2																			4	Substitution - Missense(4)	p.S57P(6)	urinary_tract(2)|kidney(2)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(169-171)Tct>Cct		Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.							18.0	28.0	25.0					17																	39240627		691	1590	2281	SO:0001583	missense	100132476							g.chr17:39240627T>C	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.169T>C	17.37:g.39240627T>C	ENSP00000375236:p.Ser57Pro						p.S57P	NM_033061	NP_149050					0	169	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.169T>C	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.387	-0.925721	0.02377	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.01272	5.07	3.6	-0.386	0.12466	.	1.254490	0.05892	N	0.628448	T	0.00695	0.0023	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43572	-0.9383	9	0.02654	T	1	.	4.4551	0.11639	0.0:0.4346:0.1731:0.3923	.	57	Q9BYR0	KRA47_HUMAN	P	57	ENSP00000375236:S57P	ENSP00000375236:S57P	S	+	1	0	KRTAP4-9;KRTAP4-7	36494153	0.000000	0.05858	0.033000	0.17914	0.157000	0.22087	-0.806000	0.04525	0.004000	0.14682	0.374000	0.22700	TCT		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1		
ATP6V0A1	535	broad.mit.edu	37	17	40646356	40646356	+	Silent	SNP	G	G	A	rs142629560		TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr17:40646356G>A	ENST00000343619.4	+	12	1302	c.1179G>A	c.(1177-1179)ccG>ccA	p.P393P	MIR548AT_ENST00000578714.1_RNA|RP11-194N12.2_ENST00000591343.1_RNA|ATP6V0A1_ENST00000544137.1_Silent_p.P39P|ATP6V0A1_ENST00000537728.1_Silent_p.P350P|ATP6V0A1_ENST00000585525.1_Silent_p.P350P|ATP6V0A1_ENST00000546249.1_Silent_p.P393P|ATP6V0A1_ENST00000264649.6_Silent_p.P400P|ATP6V0A1_ENST00000393829.2_Silent_p.P393P	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	393					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCATAGCTCCGTATACTATTA	0.368																																						uc002hzs.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26						c.(1198-1200)ccG>ccA		Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.		G	,,	5,4401	9.9+/-24.2	0,5,2198	126.0	116.0	120.0		1200,1179,1179	-6.1	1.0	17	dbSNP_134	120	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ATP6V0A1	NM_001130020.1,NM_001130021.1,NM_005177.3	,,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,,	400/839,393/838,393/832	40646356	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40646356G>A	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1179G>A	17.37:g.40646356G>A						ATP6V0A1_uc002hzr.3_Silent_p.P393P|ATP6V0A1_uc002hzq.3_Silent_p.P393P|ATP6V0A1_uc010wgj.2_Silent_p.P350P|ATP6V0A1_uc010wgk.2_Silent_p.P350P|ATP6V0A1_uc010cyg.3_Silent_p.P39P|ATP6V0A1_uc010wgl.2_Silent_p.P252P	p.P400P	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	11	1367	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	393					B7Z3B7|Q8N5G7|Q9NSX0	Silent	SNP	ENST00000343619.4	37	c.1200G>A	CCDS45684.1																																																																																				0.368	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020	
SRSF2	6427	broad.mit.edu	37	17	74732284	74732284	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr17:74732284G>T	ENST00000392485.2	-	2	797	c.625C>A	c.(625-627)Ccc>Acc	p.P209T	MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'Flank|MFSD11_ENST00000586622.1_5'UTR|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|SRSF2_ENST00000508921.3_Missense_Mutation_p.P197T|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000591864.1_5'Flank|SRSF2_ENST00000359995.5_Missense_Mutation_p.P209T|MFSD11_ENST00000590514.1_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	209	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GACTTGGGGGGACTCTTCGAT	0.537			Mis		"""MDS, CLL"""																																	uc002jsy.4				Dom	yes		17	17q25	6427	Mis	serine/arginine-rich splicing factor 2			L			"""MDS, CLL"""		0				haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(625-627)Ccc>Acc		Homo sapiens serine/arginine-rich splicing factor 2 (SRSF2), transcript variant 2, mRNA.							79.0	84.0	82.0					17																	74732284		2203	4300	6503	SO:0001583	missense	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732284G>T	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.625C>A	17.37:g.74732284G>T	ENSP00000376276:p.Pro209Thr					SRSF2_uc010wtg.2_Missense_Mutation_p.P197T|SRSF2_uc002jsv.3_Missense_Mutation_p.P209T|SRSF2_uc002jsw.2_Non-coding_Transcript|MFSD11_uc002jsz.1_Non-coding_Transcript|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtd.4_5'Flank|MFSD11_uc002jtb.3_5'Flank|MFSD11_uc002jtc.3_5'Flank|MFSD11_uc002jte.3_5'Flank|MFSD11_uc010dhb.3_5'Flank|MFSD11_uc010dha.3_5'Flank	p.P209T	NM_001195427	NP_001182356	Q01130	SRSF2_HUMAN			1	876	-			209			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	ENST00000392485.2	37	c.625C>A	CCDS11749.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004327	0.35320	.	.	ENSG00000161547	ENST00000392485;ENST00000358156;ENST00000359995	T	0.22743	1.94	5.09	5.09	0.68999	.	0.309371	0.24424	N	0.038657	T	0.25382	0.0617	M	0.64404	1.975	0.80722	D	1	B;B	0.33694	0.421;0.421	B;B	0.27608	0.059;0.081	T	0.07139	-1.0788	10	0.56958	D	0.05	.	18.4856	0.90828	0.0:0.0:1.0:0.0	.	197;209	B4DN89;Q01130	.;SRSF2_HUMAN	T	209;197;189	ENSP00000376276:P209T	ENSP00000350877:P197T	P	-	1	0	SRSF2	72243879	1.000000	0.71417	0.986000	0.45419	0.615000	0.37417	3.423000	0.52756	2.345000	0.79718	0.655000	0.94253	CCC		0.537	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016	
STXBP2	6813	broad.mit.edu	37	19	7711219	7711219	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr19:7711219G>C	ENST00000221283.5	+	16	1472	c.1441G>C	c.(1441-1443)Gat>Cat	p.D481H	STXBP2_ENST00000441779.2_Missense_Mutation_p.D492H|STXBP2_ENST00000602355.1_Missense_Mutation_p.D16H|STXBP2_ENST00000414284.2_Missense_Mutation_p.D478H	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	481					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGTCATCAAGGATGTAATGGA	0.677																																						uc010xjr.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1474-1476)Gat>Cat		Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.							36.0	29.0	32.0					19																	7711219		2202	4300	6502	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7711219G>C	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1441G>C	19.37:g.7711219G>C	ENSP00000221283:p.Asp481His					STXBP2_uc002mha.4_Missense_Mutation_p.D481H|STXBP2_uc002mhb.4_Missense_Mutation_p.D478H|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_Missense_Mutation_p.D109H	p.D492H	NM_006949	NP_008880	Q15833	STXB2_HUMAN			15	1519	+			481					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.1474G>C	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.738865	0.69304	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.77098	-1.07;-1.07;-1.07	4.61	4.61	0.57282	.	0.147749	0.49305	D	0.000158	D	0.86418	0.5928	M	0.66560	2.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.993;0.996;0.988;0.993	D	0.88155	0.2853	10	0.87932	D	0	-3.3743	15.0115	0.71552	0.0:0.0:1.0:0.0	.	492;492;478;481	E7EQD5;B4E175;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	H	481;478;492;481	ENSP00000221283:D481H;ENSP00000409471:D478H;ENSP00000413606:D492H	ENSP00000221283:D481H	D	+	1	0	STXBP2	7617219	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	9.141000	0.94612	2.143000	0.66587	0.555000	0.69702	GAT		0.677	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949	
MUC16	94025	broad.mit.edu	37	19	9045842	9045842	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr19:9045842C>G	ENST00000397910.4	-	5	35992	c.35789G>C	c.(35788-35790)gGa>gCa	p.G11930A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11932	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTGGGGGTCCAACTGAAGT	0.493																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(35788-35790)gGa>gCa		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							130.0	122.0	124.0					19																	9045842		1919	4126	6045	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9045842C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35789G>C	19.37:g.9045842C>G	ENSP00000381008:p.Gly11930Ala						p.G11930A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			4	35993	-			11932			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.35789G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	C	6.135	0.393165	0.11638	.	.	ENSG00000181143	ENST00000397910	T	0.02085	4.46	3.79	0.54	0.17163	.	.	.	.	.	T	0.02807	0.0084	N	0.19112	0.55	.	.	.	D	0.58268	0.982	P	0.52554	0.702	T	0.46190	-0.9209	8	0.87932	D	0	.	5.7513	0.18148	0.0:0.6557:0.0:0.3443	.	11930	B5ME49	.	A	11930	ENSP00000381008:G11930A	ENSP00000381008:G11930A	G	-	2	0	MUC16	8906842	0.011000	0.17503	0.000000	0.03702	0.076000	0.17211	0.350000	0.20079	0.217000	0.20800	0.555000	0.69702	GGA		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
UXS1	80146	broad.mit.edu	37	2	106761696	106761696	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr2:106761696T>C	ENST00000409501.3	-	6	464	c.407A>G	c.(406-408)gAg>gGg	p.E136G	UXS1_ENST00000479621.1_5'UTR|UXS1_ENST00000540130.1_Missense_Mutation_p.E79G|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000283148.7_Missense_Mutation_p.E141G			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	136					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CTCGAAGTTCTCATGTCCGAT	0.512																																						uc002tdm.3																			0		p.E135Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(406-408)gAg>gGg		Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.							99.0	100.0	99.0					2																	106761696		1998	4159	6157	SO:0001583	missense	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106761696T>C	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.407A>G	2.37:g.106761696T>C	ENSP00000387019:p.Glu136Gly					UXS1_uc002tdn.3_Missense_Mutation_p.E141G|UXS1_uc002tdo.3_Missense_Mutation_p.E79G|UXS1_uc010ywh.2_Intron	p.E136G	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN			5	505	-			136					Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.407A>G	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961709	0.74016	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000457835	D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27	5.84	5.84	0.93424	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.88507	0.6455	N	0.16307	0.4	0.80722	D	1	B;B	0.13145	0.006;0.007	B;B	0.21151	0.029;0.033	D	0.84704	0.0730	10	0.72032	D	0.01	-11.979	16.2141	0.82191	0.0:0.0:0.0:1.0	.	141;136	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	G	141;79;136;79	ENSP00000283148:E141G;ENSP00000438265:E79G;ENSP00000387019:E136G;ENSP00000399316:E79G	ENSP00000283148:E141G	E	-	2	0	UXS1	106128128	1.000000	0.71417	0.997000	0.53966	0.807000	0.45602	7.665000	0.83852	2.230000	0.72887	0.528000	0.53228	GAG		0.512	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3	
NCKAP5	344148	broad.mit.edu	37	2	133541813	133541813	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr2:133541813A>C	ENST00000409261.1	-	14	2944	c.2571T>G	c.(2569-2571)ttT>ttG	p.F857L	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.F857L	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	857										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATCGTAATTCAAAGAGGGGCC	0.532																																						uc002ttp.3																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(2569-2571)ttT>ttG		Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.							85.0	86.0	86.0					2																	133541813		1930	4135	6065	SO:0001583	missense	344148						protein binding	g.chr2:133541813A>C	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2571T>G	2.37:g.133541813A>C	ENSP00000387128:p.Phe857Leu					NCKAP5_uc002ttq.3_Intron	p.F857L	NM_207363	NP_997246	O14513	NCKP5_HUMAN			13	2945	-			857					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.2571T>G	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	a	3.764	-0.049006	0.07407	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.08720	3.06;3.06	5.28	-0.00446	0.14022	.	0.405768	0.17758	U	0.163005	T	0.03348	0.0097	N	0.17082	0.46	0.09310	N	0.999999	B	0.12013	0.005	B	0.12156	0.007	T	0.43180	-0.9407	10	0.09590	T	0.72	.	2.0578	0.03585	0.4823:0.254:0.1501:0.1136	.	857	O14513	NCKP5_HUMAN	L	857	ENSP00000387128:F857L;ENSP00000380603:F857L	ENSP00000380603:F857L	F	-	3	2	NCKAP5	133258283	0.020000	0.18652	0.004000	0.12327	0.625000	0.37756	0.685000	0.25378	0.118000	0.18165	-0.255000	0.11280	TTT		0.532	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
CST9	128822	broad.mit.edu	37	20	23586397	23586397	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr20:23586397C>T	ENST00000376971.3	-	1	116	c.105G>A	c.(103-105)atG>atA	p.M35I		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	35						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					TATTACCACCCATTTCCTCTT	0.517																																						uc002wtl.3																			0				central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(103-105)atG>atA		Homo sapiens cystatin 9 (testatin) (CST9), mRNA.							178.0	161.0	167.0					20																	23586397		2203	4300	6503	SO:0001583	missense	128822					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23586397C>T	AF494536	CCDS33450.1	20p11.21	2012-08-14			ENSG00000173335	ENSG00000173335			13261	protein-coding gene	gene with protein product						20565543	Standard	NM_001008693		Approved	CLM, CTES7A	uc002wtl.3	Q5W186	OTTHUMG00000032076	ENST00000376971.3:c.105G>A	20.37:g.23586397C>T	ENSP00000366170:p.Met35Ile						p.M35I	NM_001008693	NP_001008693	Q5W186	CST9_HUMAN			0	214	-	Colorectal(13;0.0993)		35					B2RP76|Q8TD53	Missense_Mutation	SNP	ENST00000376971.3	37	c.105G>A	CCDS33450.1	.	.	.	.	.	.	.	.	.	.	C	5.971	0.363203	0.11296	.	.	ENSG00000173335	ENST00000376971	T	0.17054	2.3	3.26	-6.51	0.01878	.	4.211370	0.00744	N	0.001031	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	B	0.20887	0.049	B	0.08055	0.003	T	0.27088	-1.0084	10	0.13853	T	0.58	.	0.2675	0.00227	0.3468:0.1402:0.2295:0.2836	.	35	Q5W186	CST9_HUMAN	I	35	ENSP00000366170:M35I	ENSP00000366170:M35I	M	-	3	0	CST9	23534397	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.364000	0.00496	-2.138000	0.00808	-0.225000	0.12378	ATG		0.517	CST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078341.1	NM_001008693.1	
NPBWR2	2832	broad.mit.edu	37	20	62738130	62738130	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr20:62738130G>A	ENST00000369768.1	-	1	394	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	19					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CCCATCGTGGGGAGGGAGAAG	0.637																																						uc011abt.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(55-57)Ccc>Tcc		Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.							73.0	76.0	75.0					20																	62738130		2203	4297	6500	SO:0001583	missense	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62738130G>A	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.55C>T	20.37:g.62738130G>A	ENSP00000358783:p.Pro19Ser						p.P19S	NM_005286	NP_005277	P48146	NPBW2_HUMAN			0	55	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		19					Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	c.55C>T	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	G	5.671	0.308445	0.10733	.	.	ENSG00000125522	ENST00000369768	T	0.72051	-0.62	2.75	-5.51	0.02568	.	2.003320	0.03896	U	0.279521	T	0.49355	0.1552	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35076	-0.9803	10	0.19590	T	0.45	.	8.9209	0.35610	0.0:0.1031:0.5679:0.3289	.	19	P48146	NPBW2_HUMAN	S	19	ENSP00000358783:P19S	ENSP00000358783:P19S	P	-	1	0	NPBWR2	62208574	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.219000	0.01218	-1.509000	0.01798	-0.856000	0.03024	CCC		0.637	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286	
TM4SF19	116211	broad.mit.edu	37	3	196051173	196051173	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr3:196051173A>G	ENST00000273695.3	-	4	543	c.418T>C	c.(418-420)Tat>Cat	p.Y140H	TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19_ENST00000446879.1_Missense_Mutation_p.Y140H|TM4SF19_ENST00000454715.1_Missense_Mutation_p.Y114H|TM4SF19_ENST00000442633.1_Missense_Mutation_p.Y140H|TM4SF19-AS1_ENST00000444939.1_RNA	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	140						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GGGTAACCATATTTCCAAGCT	0.438																																						uc010iad.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12						c.(418-420)Tat>Cat		Homo sapiens transmembrane 4 L six family member 19 (TM4SF19), transcript variant 2, mRNA.							101.0	93.0	96.0					3																	196051173		2203	4300	6503	SO:0001583	missense	116211					integral to membrane		g.chr3:196051173A>G	BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.418T>C	3.37:g.196051173A>G	ENSP00000273695:p.Tyr140His					TM4SF19_uc003fwj.3_Non-coding_Transcript|AK124973_uc003fwk.1_3'UTR|TM4SF19_uc003fwl.2_Missense_Mutation_p.Y140H|TM4SF19_uc021xjs.1_Missense_Mutation_p.Y140H|TM4SF19_uc011btv.2_Missense_Mutation_p.Y114H	p.Y140H	NM_001204897	NP_001191826	Q96DZ7	T4S19_HUMAN	Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)	3	576	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		140					B2RV20|E9PH22|Q336K7	Missense_Mutation	SNP	ENST00000273695.3	37	c.418T>C	CCDS3316.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.655224	0.47467	.	.	ENSG00000145107	ENST00000446879;ENST00000454715;ENST00000273695	T;T;T	0.48836	0.8;0.8;0.8	5.01	3.84	0.44239	.	0.307118	0.28659	N	0.014580	T	0.34395	0.0896	L	0.34521	1.04	0.28604	N	0.908993	B;B;B	0.29232	0.006;0.238;0.009	B;B;B	0.29267	0.012;0.1;0.018	T	0.33445	-0.9868	10	0.87932	D	0	-5.3017	6.9112	0.24336	0.8899:0.0:0.1101:0.0	.	114;140;140	E9PH22;C9JCD5;Q96DZ7	.;.;T4S19_HUMAN	H	140;114;140	ENSP00000395280:Y140H;ENSP00000387728:Y114H;ENSP00000273695:Y140H	ENSP00000273695:Y140H	Y	-	1	0	TM4SF19	197535570	0.998000	0.40836	0.996000	0.52242	0.958000	0.62258	2.866000	0.48420	0.748000	0.32831	0.460000	0.39030	TAT		0.438	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341174.1	NM_138461	
UGT2B4	7363	broad.mit.edu	37	4	70359506	70359506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr4:70359506G>A	ENST00000305107.6	-	2	821	c.775C>T	c.(775-777)Cga>Tga	p.R259*	UGT2B4_ENST00000381096.3_Nonsense_Mutation_p.R123*|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.R259*	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	259					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CAGTAGTTTCGAATAAGCCAT	0.413																																						uc003hek.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(775-777)Cga>Tga		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.							108.0	115.0	112.0					4																	70359506		2185	4296	6481	SO:0001587	stop_gained	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70359506G>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.775C>T	4.37:g.70359506G>A	ENSP00000305221:p.Arg259*					UGT2B4_uc011cap.2_Nonsense_Mutation_p.R123*|UGT2B4_uc003hel.4_Nonsense_Mutation_p.R259*	p.R259*	NM_021139	NP_066962	P06133	UD2B4_HUMAN			1	822	-			259					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Nonsense_Mutation	SNP	ENST00000305107.6	37	c.775C>T	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177083	0.38413	.	.	ENSG00000156096	ENST00000512583;ENST00000305107;ENST00000381096	.	.	.	1.95	1.05	0.20165	.	0.000000	0.64402	U	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8344	0.29362	0.0:0.0:0.7533:0.2467	.	.	.	.	X	259;259;123	.	ENSP00000305221:R259X	R	-	1	2	UGT2B4	70394095	0.000000	0.05858	0.012000	0.15200	0.031000	0.12232	-0.233000	0.09041	0.344000	0.23847	0.298000	0.19748	CGA		0.413	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139	
STK10	6793	broad.mit.edu	37	5	171520876	171520876	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr5:171520876G>A	ENST00000176763.5	-	9	1437	c.1094C>T	c.(1093-1095)cCg>cTg	p.P365L	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	365					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGTGCCAGCGGGGTGGAAGG	0.587																																						uc003mbo.1																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(1093-1095)cCg>cTg		Homo sapiens serine/threonine kinase 10 (STK10), mRNA.							43.0	48.0	46.0					5																	171520876		2201	4299	6500	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171520876G>A	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1094C>T	5.37:g.171520876G>A	ENSP00000176763:p.Pro365Leu						p.P365L	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		8	1394	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	365					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.1094C>T	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498420	0.26861	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.62941	-0.01	4.67	1.29	0.21616	.	0.857706	0.10282	N	0.693425	T	0.48095	0.1481	L	0.40543	1.245	0.23221	N	0.998097	B	0.12013	0.005	B	0.04013	0.001	T	0.33445	-0.9868	10	0.33141	T	0.24	.	5.4952	0.16799	0.217:0.1621:0.6209:0.0	.	365	O94804	STK10_HUMAN	L	365	ENSP00000176763:P365L	ENSP00000176763:P365L	P	-	2	0	STK10	171453481	0.010000	0.17322	0.002000	0.10522	0.002000	0.02628	1.096000	0.30976	0.377000	0.24735	-0.136000	0.14681	CCG		0.587	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990	
RUNX2	860	broad.mit.edu	37	6	45514682	45514682	+	Silent	SNP	G	G	A	rs200992166		TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr6:45514682G>A	ENST00000371438.1	+	8	1564	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	RUNX2_ENST00000371436.6_Silent_p.P380P|RUNX2_ENST00000541979.1_Silent_p.P448P|RUNX2_ENST00000359524.5_Silent_p.P388P|RUNX2_ENST00000371432.3_Silent_p.P366P|RUNX2_ENST00000352853.5_Silent_p.P470P|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000465038.2_Silent_p.P402P	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	402	Interaction with KAT6A. {ECO:0000250}.|Interaction with KAT6B.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTTACACCCCGCCAGTCACCT	0.577																																						uc011dvx.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1204-1206)ccG>ccA		Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.							134.0	109.0	118.0					6																	45514682		2203	4300	6503	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45514682G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1206G>A	6.37:g.45514682G>A						RUNX2_uc011dvy.2_Silent_p.P380P|RUNX2_uc003oxt.3_Silent_p.P388P	p.P402P	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN			8	1416	+			402			Interaction with MYST3 (By similarity).|Interaction with MYST4.|Pro/Ser/Thr-rich.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.1206G>A	CCDS43467.2																																																																																				0.577	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348	
WBSCR27	155368	broad.mit.edu	37	7	73249094	73249094	+	Silent	SNP	C	C	T			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:73249094C>T	ENST00000297873.4	-	6	766	c.717G>A	c.(715-717)agG>agA	p.R239R		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	239										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				ACCTGGGTCGCCTTCCACTTT	0.632																																						uc003tzj.2																			0				NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5						c.(715-717)agG>agA		Homo sapiens Williams Beuren syndrome chromosome region 27 (WBSCR27), mRNA.							48.0	45.0	46.0					7																	73249094		2203	4300	6503	SO:0001819	synonymous_variant	155368							g.chr7:73249094C>T	AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.717G>A	7.37:g.73249094C>T							p.R239R	NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN			5	757	-		Lung NSC(55;0.159)	239						Silent	SNP	ENST00000297873.4	37	c.717G>A	CCDS5561.1																																																																																				0.632	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252312.1	NM_152559	
CUX1	1523	broad.mit.edu	37	7	101847816	101847816	+	Missense_Mutation	SNP	A	A	G	rs201363592		TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:101847816A>G	ENST00000292535.7	+	19	3091	c.3053A>G	c.(3052-3054)cAg>cGg	p.Q1018R	CUX1_ENST00000550008.2_Missense_Mutation_p.Q962R|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.Q916R|CUX1_ENST00000549414.2_Missense_Mutation_p.Q996R|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.Q860R|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.Q1029R	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1018					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTACCCGTCCAGGGCCAGCAG	0.647																																						uc003uys.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(3085-3087)cAg>cGg		Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.							66.0	61.0	63.0					7																	101847816		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101847816A>G	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3053A>G	7.37:g.101847816A>G	ENSP00000292535:p.Gln1018Arg					CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.Q1018R	p.Q1029R	NM_001202543	NP_001189472	P39880	CUX1_HUMAN			18	3213	+			1018					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.3086A>G	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384692	0.61845	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.60797	0.18;0.17;0.17;0.17;0.17;0.16	5.71	4.5	0.54988	Homeodomain protein CUT (1);Lambda repressor-like, DNA-binding (1);	0.206543	0.42682	D	0.000671	T	0.33556	0.0867	N	0.08118	0	0.80722	D	1	P;P	0.42584	0.784;0.589	B;B	0.40009	0.316;0.211	T	0.17961	-1.0352	10	0.10111	T	0.7	-19.7354	11.7332	0.51750	0.8679:0.0:0.0:0.1321	.	1018;1029	P39880;P39880-3	CUX1_HUMAN;.	R	1029;1018;996;962;916;860	ENSP00000353401:Q1029R;ENSP00000292535:Q1018R;ENSP00000446630:Q996R;ENSP00000447373:Q962R;ENSP00000450125:Q916R;ENSP00000451558:Q860R	ENSP00000292535:Q1018R	Q	+	2	0	CUX1	101634536	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	6.195000	0.72088	2.178000	0.69098	0.482000	0.46254	CAG		0.647	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913	
AASS	10157	broad.mit.edu	37	7	121756793	121756793	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:121756793G>A	ENST00000393376.1	-	7	883	c.788C>T	c.(787-789)aCg>aTg	p.T263M	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.T263M			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	263	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.T263M(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						ACTTAACACCGTCCCATACAC	0.353																																						uc003vka.3																			1	Substitution - Missense(1)	p.T263T(2)|p.T263M(2)	breast(1)	autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(787-789)aCg>aTg		Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	L-Glutamic Acid(DB00142)|NADH(DB00157)						69.0	63.0	65.0					7																	121756793		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121756793G>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.788C>T	7.37:g.121756793G>A	ENSP00000377040:p.Thr263Met					AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Missense_Mutation_p.T263M|AASS_uc011knw.2_Intron	p.T263M	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			6	884	-			263			Lysine-ketoglutarate reductase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.788C>T	CCDS5783.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646779	0.87958	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	D;D	0.82893	-1.66;-1.66	5.82	5.82	0.92795	Alanine dehydrogenase/PNT, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91922	0.7442	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.92029	0.5632	10	0.72032	D	0.01	-19.3849	20.0953	0.97838	0.0:0.0:1.0:0.0	.	263	Q9UDR5	AASS_HUMAN	M	263	ENSP00000377040:T263M;ENSP00000403768:T263M	ENSP00000351834:T263M	T	-	2	0	AASS	121544029	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	9.869000	0.99810	2.767000	0.95098	0.655000	0.94253	ACG		0.353	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	
GRM8	2918	broad.mit.edu	37	7	126882805	126882805	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:126882805C>G	ENST00000339582.2	-	2	1262	c.454G>C	c.(454-456)Ggt>Cgt	p.G152R	GRM8_ENST00000358373.3_Missense_Mutation_p.G152R|GRM8_ENST00000405249.1_Missense_Mutation_p.G152R|GRM8_ENST00000444921.2_Missense_Mutation_p.G152R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	152					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GCTGCAGCACCTATGACGCCA	0.433										HNSCC(24;0.065)																												uc003vlr.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(454-456)Ggt>Cgt		Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						158.0	132.0	141.0					7																	126882805		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126882805C>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.454G>C	7.37:g.126882805C>G	ENSP00000344173:p.Gly152Arg	HNSCC(24;0.065)				GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G152R|GRM8_uc010lkz.1_Non-coding_Transcript	p.G152R	NM_000845	NP_000836	O00222	GRM8_HUMAN			0	765	-		Prostate(267;0.186)	152					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.454G>C	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312403	0.81358	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.58;-4.58	5.6	5.6	0.85130	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98945	1.0792	10	0.87932	D	0	.	18.6042	0.91261	0.0:1.0:0.0:0.0	.	152;152	O00222-2;O00222	.;GRM8_HUMAN	R	152	ENSP00000344173:G152R;ENSP00000409790:G152R;ENSP00000351142:G152R;ENSP00000385731:G152R;ENSP00000415522:G152R	ENSP00000344173:G152R	G	-	1	0	GRM8	126670041	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.646000	0.89796	0.650000	0.86243	GGT		0.433	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
PHF20L1	51105	broad.mit.edu	37	8	133829196	133829196	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr8:133829196A>C	ENST00000395386.2	+	11	1546	c.1247A>C	c.(1246-1248)cAg>cCg	p.Q416P	PHF20L1_ENST00000395390.2_Missense_Mutation_p.Q391P|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	416							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AGAAGATCTCAGCGTTTAGCC	0.453																																						uc003ytt.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(1246-1248)cAg>cCg		Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.							127.0	99.0	108.0					8																	133829196		2203	4299	6502	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133829196A>C	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1247A>C	8.37:g.133829196A>C	ENSP00000378784:p.Gln416Pro					PHF20L1_uc003yts.3_Missense_Mutation_p.Q416P|PHF20L1_uc011lja.2_Missense_Mutation_p.Q390P|PHF20L1_uc003ytu.1_Intron	p.Q416P	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		10	1572	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		416					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.1247A>C	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	A	18.95	3.732744	0.69189	.	.	ENSG00000129292	ENST00000395383;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000395382;ENST00000395390	T;T;T;T;T	0.56444	0.5;0.49;1.14;0.46;1.16	5.41	5.41	0.78517	.	0.180801	0.51477	D	0.000095	T	0.61123	0.2322	L	0.29908	0.895	0.80722	D	1	D;D;D	0.71674	0.978;0.998;0.998	P;D;D	0.70935	0.792;0.971;0.929	T	0.64774	-0.6328	10	0.66056	D	0.02	-7.0882	14.9066	0.70724	1.0:0.0:0.0:0.0	.	391;416;416	F8W9L8;A8MW92;A8MW92-4	.;P20L1_HUMAN;.	P	420;391;416;416;286;391	ENSP00000378781:Q420P;ENSP00000355301:Q391P;ENSP00000378784:Q416P;ENSP00000324519:Q416P;ENSP00000378788:Q391P	ENSP00000324519:Q416P	Q	+	2	0	PHF20L1	133898378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.072000	0.71238	2.174000	0.68829	0.477000	0.44152	CAG		0.453	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018	
CXorf23	256643	broad.mit.edu	37	X	19968977	19968977	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chrX:19968977T>G	ENST00000379682.4	-	7	1672	c.1639A>C	c.(1639-1641)Aaa>Caa	p.K547Q	CXorf23_ENST00000379687.3_Missense_Mutation_p.K547Q|CXorf23_ENST00000356980.3_Missense_Mutation_p.K547Q			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	547						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCTATTATTTTGATCAGAGTC	0.363																																						uc004czp.3																			0				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						c.(1639-1641)Aaa>Caa		Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.							192.0	144.0	160.0					X																	19968977		2203	4300	6503	SO:0001583	missense	256643					mitochondrion		g.chrX:19968977T>G	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1639A>C	X.37:g.19968977T>G	ENSP00000369004:p.Lys547Gln					CXorf23_uc011mjg.2_Missense_Mutation_p.K112Q|CXorf23_uc004czo.3_Missense_Mutation_p.K497Q	p.K547Q	NM_198279	NP_938020	A2AJT9	CX023_HUMAN			6	1639	-			547					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37	c.1639A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.07|19.07	3.755088|3.755088	0.69648|0.69648	.|.	.|.	ENSG00000173681|ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038|ENST00000340625	T;T;T|.	0.27720|.	1.65;1.65;1.65|.	5.35|5.35	4.1|4.1	0.47936|0.47936	.|.	.|.	.|.	.|.	.|.	T|T	0.43875|0.43875	0.1267|0.1267	L|L	0.55743|0.55743	1.74|1.74	0.26895|0.26895	N|N	0.967244|0.967244	D;D;D|.	0.63046|.	0.986;0.992;0.992|.	P;P;P|.	0.59948|.	0.812;0.866;0.866|.	T|T	0.32666|0.32666	-0.9898|-0.9898	8|5	.|.	.|.	.|.	.|.	7.8664|7.8664	0.29539|0.29539	0.0:0.0:0.2071:0.7929|0.0:0.0:0.2071:0.7929	.|.	258;547;547|.	B7ZLM9;A2AJT9-2;A2AJT9|.	.;.;CX023_HUMAN|.	Q|P	547;547;547;435|155	ENSP00000369009:K547Q;ENSP00000369004:K547Q;ENSP00000349470:K547Q|.	.|.	K|Q	-|-	1|2	0|0	CXorf23|CXorf23	19878898|19878898	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.822000|2.822000	0.48073|0.48073	1.900000|1.900000	0.55004|0.55004	0.486000|0.486000	0.48141|0.48141	AAA|CAA		0.363	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279	
