#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KMT2D	8085	broad.mit.edu	37	12	49431213	49431213	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr12:49431213G>A	ENST00000301067.7	-	34	9925	c.9926C>T	c.(9925-9927)tCc>tTc	p.S3309F	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3309	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S3305fs*20(1)|p.S3035fs*20(1)									CTGCTGTTGGGACCCAGCCAA	0.627																																						ENST00000301067.7																			2	Deletion - Frameshift(2)	p.S3305fs*20(1)|p.S3035fs*20(1)	haematopoietic_and_lymphoid_tissue(2)								c.(9925-9927)tCc>tTc		lysine (K)-specific methyltransferase 2D							18.0	21.0	20.0					12																	49431213		2099	4237	6336	SO:0001583	missense	8085							g.chr12:49431213G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9926C>T	12.37:g.49431213G>A	ENSP00000301067:p.Ser3309Phe						p.S3309F	NM_003482.3	NP_003473.3					34	9925	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.9926C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	3.724	-0.056945	0.07317	.	.	ENSG00000167548	ENST00000301067	T	0.79352	-1.26	5.61	5.61	0.85477	.	0.216150	0.23727	N	0.045166	T	0.57636	0.2067	N	0.08118	0	0.09310	N	1	B	0.21381	0.055	B	0.19148	0.024	T	0.50668	-0.8801	10	0.87932	D	0	.	7.8009	0.29174	0.0807:0.0:0.7567:0.1626	.	3309	O14686	MLL2_HUMAN	F	3309	ENSP00000301067:S3309F	ENSP00000301067:S3309F	S	-	2	0	MLL2	47717480	0.986000	0.35501	0.459000	0.27081	0.739000	0.42172	3.478000	0.53158	2.826000	0.97356	0.655000	0.94253	TCC		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			9	5	0	0	0	1	0	9	5				
HPR	3250	broad.mit.edu	37	16	72110614	72110614	+	Silent	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr16:72110614A>G	ENST00000540303.2	+	5	713	c.681A>G	c.(679-681)ggA>ggG	p.G227G	HPR_ENST00000561690.1_Intron|HPR_ENST00000228226.8_Silent_p.G264G|HPR_ENST00000356967.5_Silent_p.G227G	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	227	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CTGGCTGGGGACAAAGTGACA	0.463																																						ENST00000540303.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20						c.(679-681)ggA>ggG		haptoglobin-related protein							185.0	138.0	153.0					16																	72110614		2079	4187	6266	SO:0001819	synonymous_variant	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72110614A>G	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.681A>G	16.37:g.72110614A>G						HPR_ENST00000356967.5_Silent_p.G227G|HPR_ENST00000228226.8_Silent_p.G264G|HPR_ENST00000561690.1_Intron	p.G227G	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN			5	713	+		Ovarian(137;0.125)	227			Peptidase S1.		Q7LE20|Q92658|Q92659|Q9ULB0	Silent	SNP	ENST00000540303.2	37	c.681A>G	CCDS42193.1																																																																																				0.463	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		7	133	0	0	0	1	0	7	133				
IGSF8	93185	broad.mit.edu	37	1	160064985	160064985	+	Missense_Mutation	SNP	C	C	T	rs190351074		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:160064985C>T	ENST00000368086.1	-	2	332	c.116G>A	c.(115-117)cGc>cAc	p.R39H	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.R39H			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	39	Ig-like C2-type 1.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R39L(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCAGCCACGCGGTACAAGGG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		19162	0.001		0.0	False		,,,				2504	0.0					ENST00000368086.1																			2	Substitution - Missense(2)	p.R39L(2)	lung(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33						c.(115-117)cGc>cAc		immunoglobulin superfamily, member 8							35.0	37.0	36.0					1																	160064985		2203	4300	6503	SO:0001583	missense	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160064985C>T	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.116G>A	1.37:g.160064985C>T	ENSP00000357065:p.Arg39His					IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.R39H	p.R39H			Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		2	332	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		39			Ig-like C2-type 1.		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	c.116G>A	CCDS1195.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.9	4.580581	0.86645	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.64991	-0.13;-0.13;-0.13	5.36	5.36	0.76844	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.76793	0.4037	M	0.78049	2.395	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.79664	-0.1709	10	0.72032	D	0.01	-9.6628	17.8546	0.88759	0.0:1.0:0.0:0.0	.	39	Q969P0	IGSF8_HUMAN	H	39	ENSP00000316664:R39H;ENSP00000357065:R39H;ENSP00000397464:R39H	ENSP00000316664:R39H	R	-	2	0	IGSF8	158331609	1.000000	0.71417	0.975000	0.42487	0.527000	0.34593	7.444000	0.80532	2.489000	0.83994	0.563000	0.77884	CGC		0.617	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		9	36	0	0	0	1	0	9	36				
MUC16	94025	broad.mit.edu	37	19	9057582	9057582	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:9057582G>C	ENST00000397910.4	-	3	30067	c.29864C>G	c.(29863-29865)aCc>aGc	p.T9955S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9957	Ser-rich.|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						GGTGGTGATGGTCATTTGTGT	0.498																																						ENST00000397910.4																			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.(29863-29865)aCc>aGc		mucin 16, cell surface associated							258.0	252.0	254.0					19																	9057582		1987	4174	6161	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057582G>C	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.29864C>G	19.37:g.9057582G>C	ENSP00000381008:p.Thr9955Ser						p.T9955S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30067	-			9957			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29864C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	9.882	1.201810	0.22121	.	.	ENSG00000181143	ENST00000397910	T	0.02369	4.32	2.5	2.5	0.30297	.	.	.	.	.	T	0.05502	0.0145	L	0.27053	0.805	.	.	.	D	0.60160	0.987	P	0.58970	0.849	T	0.28459	-1.0043	8	0.87932	D	0	.	8.6186	0.33847	0.0:0.0:1.0:0.0	.	9955	B5ME49	.	S	9955	ENSP00000381008:T9955S	ENSP00000381008:T9955S	T	-	2	0	MUC16	8918582	0.000000	0.05858	0.017000	0.16124	0.501000	0.33797	-0.096000	0.11059	1.708000	0.51301	0.460000	0.39030	ACC		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		47	254	0	0	0	1	0	47	254				
MUC16	94025	broad.mit.edu	37	19	9068570	9068570	+	Silent	SNP	T	T	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:9068570T>A	ENST00000397910.4	-	3	19079	c.18876A>T	c.(18874-18876)acA>acT	p.T6292T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6294	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						GCATTGTGTGTGTATCTGTGG	0.453																																						ENST00000397910.4																			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.(18874-18876)acA>acT		mucin 16, cell surface associated							215.0	203.0	207.0					19																	9068570		2016	4194	6210	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068570T>A	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.18876A>T	19.37:g.9068570T>A							p.T6292T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	19079	-			6294			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.18876A>T	CCDS54212.1																																																																																				0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		23	128	0	0	0	1	0	23	128				
MUC2	4583	broad.mit.edu	37	11	1086051	1086051	+	Missense_Mutation	SNP	C	C	T	rs72655318	byFrequency	TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:1086051C>T	ENST00000441003.2	+	22	2918	c.2891C>T	c.(2890-2892)aCg>aTg	p.T964M	MUC2_ENST00000359061.5_Missense_Mutation_p.T964M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	964	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GAGTCCAGCACGGGCATCATC	0.632													C|||	3	0.000599042	0.0	0.0014	5008	,	,		14496	0.0		0.0	False		,,,				2504	0.002					ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(2890-2892)aCg>aTg		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)	C	MET/THR	3,4295		0,3,2146	42.0	49.0	47.0		2891	-5.8	0.0	11	dbSNP_130	47	10,8472		0,10,4231	yes	missense	MUC2	NM_002457.2	81	0,13,6377	TT,TC,CC		0.1179,0.0698,0.1017	possibly-damaging	964/2813	1086051	13,12767	2149	4241	6390	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1086051C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2891C>T	11.37:g.1086051C>T	ENSP00000415183:p.Thr964Met					MUC2_ENST00000359061.5_Missense_Mutation_p.T964M	p.T964M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	22	2918	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	964			VWFD 3.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.2891C>T		.	.	.	.	.	.	.	.	.	.	c	11.06	1.528400	0.27299	6.98E-4	0.001179	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.60299	0.2;0.2	3.94	-5.81	0.02340	.	3.061800	0.02567	N	0.097439	T	0.28167	0.0695	N	0.14661	0.345	0.09310	N	1	P	0.39759	0.687	B	0.27715	0.082	T	0.26608	-1.0098	10	0.46703	T	0.11	.	1.3762	0.02221	0.2406:0.2069:0.0983:0.4541	.	964	E7EUV1	.	M	964	ENSP00000415183:T964M;ENSP00000351956:T964M	ENSP00000351956:T964M	T	+	2	0	MUC2	1076051	0.000000	0.05858	0.000000	0.03702	0.906000	0.53458	-0.247000	0.08866	-0.853000	0.04136	-0.348000	0.07805	ACG		0.632	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		20	28	0	0	0	1	0	20	28				
ZNF143	7702	broad.mit.edu	37	11	9499964	9499964	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:9499964C>T	ENST00000396602.2	+	6	520	c.401C>T	c.(400-402)gCg>gTg	p.A134V	ZNF143_ENST00000530463.1_Missense_Mutation_p.A133V|ZNF143_ENST00000396604.1_Missense_Mutation_p.A133V|ZNF143_ENST00000299606.2_Missense_Mutation_p.A106V|ZNF143_ENST00000396597.3_Missense_Mutation_p.A103V	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	134					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GCATTACAGGCGGTTCAGCTG	0.433																																						ENST00000396602.2																			0				endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13						c.(400-402)gCg>gTg		zinc finger protein 143							123.0	108.0	113.0					11																	9499964		2201	4294	6495	SO:0001583	missense	7702				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	g.chr11:9499964C>T	U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.401C>T	11.37:g.9499964C>T	ENSP00000379847:p.Ala134Val					ZNF143_ENST00000530463.1_Missense_Mutation_p.A133V|ZNF143_ENST00000396597.3_Missense_Mutation_p.A103V|ZNF143_ENST00000299606.2_Missense_Mutation_p.A106V|ZNF143_ENST00000396604.1_Missense_Mutation_p.A133V	p.A134V	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN		all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)	6	520	+			134					A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	ENST00000396602.2	37	c.401C>T	CCDS7799.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.838809|4.838809	0.91117|0.91117	.|.	.|.	ENSG00000166478|ENSG00000166478	ENST00000531943;ENST00000396604;ENST00000396602;ENST00000530463;ENST00000533542;ENST00000532577;ENST00000396597;ENST00000438144;ENST00000299606;ENST00000534265;ENST00000412390|ENST00000526657	T;T;T;T;T;T;T;T;T;T;T|T	0.54279|0.53423	0.67;2.7;2.72;2.7;0.63;0.62;2.77;0.58;2.68;0.59;0.59|0.62	4.6|4.6	4.6|4.6	0.57074|0.57074	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.65512|0.65512	0.2698|0.2698	M|M	0.71036|0.71036	2.16|2.16	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D|.	0.89917|.	0.999;1.0;0.999|.	D;D;D|.	0.75484|.	0.981;0.986;0.98|.	T|T	0.70963|0.70963	-0.4729|-0.4729	10|7	0.34782|0.87932	T|D	0.22|0	.|.	17.7713|17.7713	0.88493|0.88493	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	103;133;134|.	P52747-2;E7ER34;P52747|.	.;.;ZN143_HUMAN|.	V|W	134;133;134;133;102;133;103;134;106;134;133|133	ENSP00000434638:A134V;ENSP00000379849:A133V;ENSP00000379847:A134V;ENSP00000432154:A133V;ENSP00000434922:A102V;ENSP00000433221:A133V;ENSP00000379843:A103V;ENSP00000409432:A134V;ENSP00000299606:A106V;ENSP00000433743:A134V;ENSP00000388628:A133V|ENSP00000435881:R133W	ENSP00000299606:A106V|ENSP00000435881:R133W	A|R	+|+	2|1	0|2	ZNF143|ZNF143	9456540|9456540	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.990000|0.990000	0.78478|0.78478	5.753000|5.753000	0.68736|0.68736	2.274000|2.274000	0.75844|0.75844	0.491000|0.491000	0.48974|0.48974	GCG|CGG		0.433	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313921.2	NM_003442		64	89	0	0	0	1	0	64	89				
RNF121	55298	broad.mit.edu	37	11	71671806	71671806	+	Missense_Mutation	SNP	G	G	A	rs535881615		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:71671806G>A	ENST00000361756.3	+	3	473	c.112G>A	c.(112-114)Gca>Aca	p.A38T	RNF121_ENST00000545854.1_5'UTR|RNF121_ENST00000530137.1_Missense_Mutation_p.A6T|RNF121_ENST00000533380.1_Missense_Mutation_p.A6T|RNF121_ENST00000393713.3_Missense_Mutation_p.A6T|RNF121_ENST00000490867.1_3'UTR	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	38						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						GGTCGAGCACGCACGCATGCA	0.542													G|||	1	0.000199681	0.0	0.0014	5008	,	,		23417	0.0		0.0	False		,,,				2504	0.0					ENST00000361756.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						c.(112-114)Gca>Aca		ring finger protein 121							108.0	81.0	90.0					11																	71671806		2200	4293	6493	SO:0001583	missense	55298					integral to membrane	zinc ion binding	g.chr11:71671806G>A	AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"""RING-type (C3HC4) zinc fingers"""	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.112G>A	11.37:g.71671806G>A	ENSP00000354571:p.Ala38Thr					RNF121_ENST00000545854.1_5'UTR|RNF121_ENST00000530137.1_Missense_Mutation_p.A6T|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000533380.1_Missense_Mutation_p.A6T|RNF121_ENST00000393713.3_Missense_Mutation_p.A6T	p.A38T	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN			3	473	+			38					B3KSW8|Q6IA57|Q6P449|Q96DB4	Missense_Mutation	SNP	ENST00000361756.3	37	c.112G>A	CCDS8203.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074360	0.36566	.	.	ENSG00000137522	ENST00000361756;ENST00000533380;ENST00000393713;ENST00000530137	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.73	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.37758	0.1015	L	0.47716	1.5	0.80722	D	1	D;D;P	0.58620	0.983;0.981;0.856	B;P;B	0.45449	0.408;0.481;0.158	T	0.13176	-1.0519	10	0.14656	T	0.56	.	12.6882	0.56960	0.08:0.0:0.92:0.0	.	6;6;38	C9JQY5;G3V148;Q9H920	.;.;RN121_HUMAN	T	38;6;6;6	ENSP00000354571:A38T;ENSP00000433574:A6T;ENSP00000377316:A6T;ENSP00000431286:A6T	ENSP00000354571:A38T	A	+	1	0	RNF121	71349454	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	9.238000	0.95380	1.420000	0.47138	0.655000	0.94253	GCA		0.542	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347132.1	NM_018320		4	94	0	0	0	1	0	4	94				
GUF1	60558	broad.mit.edu	37	4	44693681	44693681	+	Splice_Site	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:44693681A>G	ENST00000281543.5	+	13	1673		c.e13-1		GUF1_ENST00000506793.1_Splice_Site|RP11-700J17.1_ENST00000610260.1_RNA	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTCCCTTTTTAGGCTCGAAGA	0.299																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.e13-1		GUF1 GTPase homolog (S. cerevisiae)							85.0	94.0	91.0					4																	44693681		2201	4281	6482	SO:0001630	splice_region_variant	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44693681A>G		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1480-1A>G	4.37:g.44693681A>G						GUF1_ENST00000506793.1_Splice_Site		NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN			13	1673	+									Splice_Site	SNP	ENST00000281543.5	37		CCDS3468.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.104478	0.77096	.	.	ENSG00000151806	ENST00000281543	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3718	0.66846	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GUF1	44388438	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	8.799000	0.91895	2.043000	0.60533	0.533000	0.62120	.		0.299	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927	Intron	8	128	0	0	0	1	0	8	128				
RTN3	10313	broad.mit.edu	37	11	63487064	63487064	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:63487064G>A	ENST00000377819.5	+	3	1244	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.G345R|RTN3_ENST00000540798.1_Missense_Mutation_p.G252R	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	364					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAAAACTACAGGACTTGACAT	0.373																																						ENST00000377819.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1090-1092)Gga>Aga		reticulon 3							47.0	48.0	47.0					11																	63487064		2201	4298	6499	SO:0001583	missense	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63487064G>A	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1090G>A	11.37:g.63487064G>A	ENSP00000367050:p.Gly364Arg					RTN3_ENST00000540798.1_Missense_Mutation_p.G252R|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.G345R	p.G364R	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN			3	1244	+			364					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	c.1090G>A	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	4.250	0.045401	0.08196	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.16324	2.35;2.35;2.35	5.96	2.97	0.34412	.	0.423150	0.22522	N	0.058947	T	0.09774	0.0240	N	0.19112	0.55	0.19300	N	0.999973	B;B;B	0.29909	0.176;0.261;0.176	B;B;B	0.26202	0.067;0.03;0.067	T	0.19943	-1.0290	10	0.87932	D	0	-12.084	6.603	0.22710	0.1676:0.1515:0.6809:0.0	.	252;364;345	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	R	364;345;252	ENSP00000367050:G364R;ENSP00000344106:G345R;ENSP00000442733:G252R	ENSP00000344106:G345R	G	+	1	0	RTN3	63243640	0.975000	0.34042	0.332000	0.25469	0.021000	0.10359	1.317000	0.33631	1.521000	0.48983	0.655000	0.94253	GGA		0.373	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054		3	57	0	0	0	1	0	3	57				
SMARCC1	6599	broad.mit.edu	37	3	47719787	47719787	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr3:47719787C>T	ENST00000254480.5	-	16	1591	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	491	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CATAAAATTTCGATATGCCAA	0.388																																						ENST00000254480.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1471-1473)cGa>cAa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							106.0	102.0	103.0					3																	47719787		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47719787C>T	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.1472G>A	3.37:g.47719787C>T	ENSP00000254480:p.Arg491Gln					SMARCC1_ENST00000425518.1_5'UTR	p.R491Q	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	16	1591	-			491			SWIRM.		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.1472G>A	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	C	36	5.879763	0.97062	.	.	ENSG00000173473	ENST00000254480	D	0.92495	-3.05	5.76	5.76	0.90799	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.057129	0.64402	D	0.000001	D	0.97926	0.9318	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99133	1.0853	10	0.87932	D	0	-11.7739	18.5388	0.91020	0.0:1.0:0.0:0.0	.	491	Q92922	SMRC1_HUMAN	Q	491	ENSP00000254480:R491Q	ENSP00000254480:R491Q	R	-	2	0	SMARCC1	47694791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.580000	0.82523	2.724000	0.93272	0.585000	0.79938	CGA		0.388	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			8	151	0	0	0	1	0	8	151				
CACNA1H	8912	broad.mit.edu	37	16	1251754	1251754	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr16:1251754A>G	ENST00000348261.5	+	9	1552	c.1304A>G	c.(1303-1305)gAg>gGg	p.E435G	CACNA1H_ENST00000358590.4_Missense_Mutation_p.E435G|CACNA1H_ENST00000565831.1_Missense_Mutation_p.E435G	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	435					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)	CTGATGCGGGAGCAGCGGGCA	0.612																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(1303-1305)gAg>gGg		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						33.0	38.0	36.0					16																	1251754		2186	4280	6466	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.chr16:1251754A>G	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.1304A>G	16.37:g.1251754A>G	ENSP00000334198:p.Glu435Gly					CACNA1H_ENST00000565831.1_Missense_Mutation_p.E435G|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E435G	p.E435G	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			9	1552	+		Hepatocellular(780;0.00369)	435					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.1304A>G	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.099999	0.56183	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97575	-4.44;-4.38	3.86	3.86	0.44501	.	0.718967	0.12883	N	0.431276	D	0.98375	0.9460	M	0.86097	2.795	0.36672	D	0.878561	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.99616	1.0982	10	0.87932	D	0	.	11.9865	0.53151	1.0:0.0:0.0:0.0	.	435;435	O95180-2;O95180	.;CAC1H_HUMAN	G	435	ENSP00000334198:E435G;ENSP00000351401:E435G	ENSP00000334198:E435G	E	+	2	0	CACNA1H	1191755	1.000000	0.71417	0.971000	0.41717	0.424000	0.31475	7.007000	0.76335	1.618000	0.50286	0.448000	0.29417	GAG		0.612	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		8	14	0	0	0	1	0	8	14				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			4	92	0	0	0	1	0	4	92				
PKLR	5313	broad.mit.edu	37	1	155261708	155261708	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:155261708C>T	ENST00000342741.4	-	10	1495	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	PKLR_ENST00000392414.3_Missense_Mutation_p.R455Q	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	486			R -> W (in PKRD; frequent mutation; no conformational change; dbSNP:rs116100695). {ECO:0000269|PubMed:8483951, ECO:0000269|PubMed:9482576, ECO:0000269|PubMed:9827908}.		ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGGTCGGTACCGAGACAGAAG	0.577																																						ENST00000392414.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	GRCh37	CM061899	PKLR	M		c.(1363-1365)cGg>cAg		pyruvate kinase, liver and RBC	Pyruvic acid(DB00119)						47.0	44.0	45.0					1																	155261708		2203	4300	6503	SO:0001583	missense	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155261708C>T	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1457G>A	1.37:g.155261708C>T	ENSP00000339933:p.Arg486Gln					PKLR_ENST00000342741.4_Missense_Mutation_p.R486Q	p.R455Q	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		10	1477	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		486					O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.1364G>A	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837117	0.50951	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99388	-5.81;-5.81	4.85	0.829	0.18847	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.183484	0.45867	N	0.000337	D	0.98251	0.9421	M	0.91510	3.215	0.43408	D	0.995542	B;B	0.31931	0.347;0.347	B;B	0.35727	0.209;0.209	D	0.96830	0.9610	10	0.66056	D	0.02	-12.0621	10.9328	0.47228	0.0:0.7545:0.0:0.2455	.	486;477	P30613;B1AVT1	KPYR_HUMAN;.	Q	511;455;486;400	ENSP00000376214:R455Q;ENSP00000339933:R486Q	ENSP00000271946:R400Q	R	-	2	0	PKLR	153528332	0.989000	0.36119	0.969000	0.41365	0.747000	0.42532	2.507000	0.45442	0.062000	0.16340	-1.305000	0.01319	CGG		0.577	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		16	69	0	0	0	1	0	16	69				
NKAIN4	128414	broad.mit.edu	37	20	61881306	61881306	+	Missense_Mutation	SNP	C	C	A	rs202109120		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr20:61881306C>A	ENST00000370316.3	-	2	262	c.173G>T	c.(172-174)cGg>cTg	p.R58L	NKAIN4_ENST00000370307.2_5'UTR|NKAIN4_ENST00000370313.1_5'UTR|NKAIN4_ENST00000466885.1_5'Flank	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					ATAGCGCAGCCGGTACTGGAT	0.607																																						ENST00000370316.3																			0				endometrium(2)|lung(1)|ovary(1)	4						c.(172-174)cGg>cTg		Na+/K+ transporting ATPase interacting 4							77.0	60.0	66.0					20																	61881306		2203	4300	6503	SO:0001583	missense	128414					integral to membrane|plasma membrane		g.chr20:61881306C>A	BC041812	CCDS13514.1	20q13.33	2007-10-04	2007-10-04	2007-10-04	ENSG00000101198	ENSG00000101198		"""Na+/K+ transporting ATPase interacting"""	16191	protein-coding gene	gene with protein product		612873	"""chromosome 20 open reading frame 58"""	C20orf58		17606467	Standard	NM_152864		Approved	bA261N11.2, FAM77A	uc002yek.3	Q8IVV8	OTTHUMG00000032959	ENST00000370316.3:c.173G>T	20.37:g.61881306C>A	ENSP00000359340:p.Arg58Leu					NKAIN4_ENST00000370307.2_5'UTR|NKAIN4_ENST00000370313.1_5'UTR	p.R58L	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN			2	262	-	all_cancers(38;2.72e-09)		58					Q4VXQ6|Q9BQU8|Q9BQU9	Missense_Mutation	SNP	ENST00000370316.3	37	c.173G>T	CCDS13514.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986556	0.35036	.	.	ENSG00000101198	ENST00000370316	T	0.29142	1.58	3.61	2.66	0.31614	.	0.000000	0.64402	U	0.000001	T	0.57080	0.2029	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60919	-0.7167	10	0.87932	D	0	-8.9645	10.4368	0.44441	0.0:0.8998:0.0:0.1002	.	58	Q8IVV8	NKAI4_HUMAN	L	58	ENSP00000359340:R58L	ENSP00000359340:R58L	R	-	2	0	NKAIN4	61351751	0.985000	0.35326	0.735000	0.30896	0.003000	0.03518	2.220000	0.42908	0.499000	0.27970	0.467000	0.42956	CGG		0.607	NKAIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080117.3	NM_152864		3	54	1	0	1	1	1	3	54				
VARS	7407	broad.mit.edu	37	6	31747885	31747885	+	Silent	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:31747885G>A	ENST00000375663.3	-	26	3411	c.2971C>T	c.(2971-2973)Ctg>Ttg	p.L991L	Y_RNA_ENST00000364685.1_RNA|VWA7_ENST00000447450.1_5'Flank|VWA7_ENST00000375688.4_5'Flank|VWA7_ENST00000467576.1_5'Flank|VARS_ENST00000482996.1_5'Flank|VWA7_ENST00000375686.3_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	991					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCCTCTGTCAGGCGGCTGCGG	0.647																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(2971-2973)Ctg>Ttg		valyl-tRNA synthetase	L-Valine(DB00161)						49.0	53.0	52.0					6																	31747885		2203	4300	6503	SO:0001819	synonymous_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31747885G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2971C>T	6.37:g.31747885G>A							p.L991L	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			26	3411	-			991					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	ENST00000375663.3	37	c.2971C>T	CCDS34412.1																																																																																				0.647	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		10	57	0	0	0	1	0	10	57				
ZNF443	10224	broad.mit.edu	37	19	12541141	12541141	+	Silent	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:12541141C>T	ENST00000301547.5	-	4	2042	c.1845G>A	c.(1843-1845)ccG>ccA	p.P615P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	615					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TACATTCATACGGGTTCTCTC	0.403																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(1843-1845)ccG>ccA		zinc finger protein 443							62.0	67.0	65.0					19																	12541141		2197	4290	6487	SO:0001819	synonymous_variant	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12541141C>T	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1845G>A	19.37:g.12541141C>T						CTD-3105H18.16_ENST00000595562.1_Intron	p.P615P	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	2042	-			615						Silent	SNP	ENST00000301547.5	37	c.1845G>A	CCDS32918.1																																																																																				0.403	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		4	66	0	0	0	1	0	4	66				
FFAR1	2864	broad.mit.edu	37	19	35842815	35842815	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:35842815T>C	ENST00000246553.2	+	1	371	c.361T>C	c.(361-363)Tgc>Cgc	p.C121R		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	121					energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|positive regulation of GTPase activity (GO:0043547)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CCGGAGGCCGTGCTATTCCTG	0.677																																						ENST00000246553.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(361-363)Tgc>Cgc		free fatty acid receptor 1	Icosapent(DB00159)						58.0	59.0	59.0					19																	35842815		2203	4300	6503	SO:0001583	missense	2864				energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding	g.chr19:35842815T>C	AF024687	CCDS12458.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000126266	ENSG00000126266		"""GPCR / Class A : Fatty acid receptors"""	4498	protein-coding gene	gene with protein product		603820	"""G protein-coupled receptor 40"""	GPR40		15684720	Standard	NM_005303		Approved	FFA1R	uc002nzc.2	O14842		ENST00000246553.2:c.361T>C	19.37:g.35842815T>C	ENSP00000246553:p.Cys121Arg						p.C121R	NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		1	371	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		121					Q0VAS2|Q4VBL4	Missense_Mutation	SNP	ENST00000246553.2	37	c.361T>C	CCDS12458.1	.	.	.	.	.	.	.	.	.	.	T	0.050	-1.252433	0.01469	.	.	ENSG00000126266	ENST00000246553	T	0.30981	1.51	4.23	-0.893	0.10567	GPCR, rhodopsin-like superfamily (1);	0.511281	0.18918	N	0.127543	T	0.06872	0.0175	N	0.00707	-1.245	0.21256	N	0.999749	B	0.02656	0.0	B	0.01281	0.0	T	0.33445	-0.9868	10	0.21540	T	0.41	-8.6957	4.5376	0.12042	0.1714:0.2127:0.0:0.6159	.	121	O14842	FFAR1_HUMAN	R	121	ENSP00000246553:C121R	ENSP00000246553:C121R	C	+	1	0	FFAR1	40534655	0.000000	0.05858	0.160000	0.22671	0.012000	0.07955	-0.582000	0.05814	-0.198000	0.10333	-0.366000	0.07423	TGC		0.677	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466112.2	NM_005303		10	43	0	0	0	1	0	10	43				
PTPRH	5794	broad.mit.edu	37	19	55693430	55693430	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:55693430A>T	ENST00000376350.3	-	19	3174	c.3152T>A	c.(3151-3153)tTt>tAt	p.F1051Y	SYT5_ENST00000590851.1_5'Flank|SYT5_ENST00000354308.3_5'Flank|PTPRH_ENST00000263434.5_Missense_Mutation_p.F873Y|SYT5_ENST00000537500.1_5'Flank	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1051	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTTCCTTACAAAGCTGAAGGG	0.622																																						ENST00000376350.3																			0				breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(3151-3153)tTt>tAt		protein tyrosine phosphatase, receptor type, H							108.0	106.0	107.0					19																	55693430		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55693430A>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3152T>A	19.37:g.55693430A>T	ENSP00000365528:p.Phe1051Tyr					PTPRH_ENST00000263434.5_Missense_Mutation_p.F873Y	p.F1051Y	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	19	3174	-		Renal(1328;0.245)	1051			Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.3152T>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	A	0.890	-0.725722	0.03158	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	D;D	0.83591	-1.74;-1.74	4.86	1.5	0.22942	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.426251	0.17423	N	0.174763	T	0.57051	0.2027	N	0.04355	-0.22	0.09310	N	1	B;B	0.22541	0.071;0.071	B;B	0.22152	0.038;0.038	T	0.48937	-0.8990	10	0.02654	T	1	.	7.0698	0.25171	0.7561:0.0:0.0854:0.1585	.	873;1051	C9JCH2;Q9HD43	.;PTPRH_HUMAN	Y	1051;873	ENSP00000365528:F1051Y;ENSP00000263434:F873Y	ENSP00000263434:F873Y	F	-	2	0	PTPRH	60385242	0.026000	0.19158	0.000000	0.03702	0.057000	0.15508	1.026000	0.30103	-0.017000	0.14103	0.529000	0.55759	TTT		0.622	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			32	76	0	0	0	1	0	32	76				
CAPZA3	93661	broad.mit.edu	37	12	18891209	18891209	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr12:18891209C>T	ENST00000317658.3	+	1	165	c.7C>T	c.(7-9)Ctt>Ttt	p.L3F	PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	3					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)		p.L3V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAACATGACACTTAGCGTGCT	0.438																																						ENST00000317658.3																			1	Substitution - Missense(1)	p.L3V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(7-9)Ctt>Ttt		capping protein (actin filament) muscle Z-line, alpha 3							82.0	80.0	80.0					12																	18891209		2203	4299	6502	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891209C>T	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.7C>T	12.37:g.18891209C>T	ENSP00000326238:p.Leu3Phe						p.L3F	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	165	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	3					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.7C>T	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368824	0.24771	.	.	ENSG00000177938	ENST00000317658	.	.	.	5.31	4.35	0.52113	.	0.466123	0.19910	N	0.103315	T	0.19846	0.0477	N	0.08118	0	0.20489	N	0.999893	B	0.29085	0.232	B	0.29440	0.102	T	0.13899	-1.0492	9	0.59425	D	0.04	-9.6728	10.264	0.43445	0.2104:0.7896:0.0:0.0	.	3	Q96KX2	CAZA3_HUMAN	F	3	.	ENSP00000326238:L3F	L	+	1	0	CAPZA3	18782476	0.095000	0.21747	0.958000	0.39756	0.469000	0.32828	0.732000	0.26072	2.763000	0.94921	0.563000	0.77884	CTT		0.438	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		5	85	0	0	0	1	0	5	85				
ANO8	57719	broad.mit.edu	37	19	17438523	17438523	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:17438523C>T	ENST00000159087.4	-	14	2551	c.2393G>A	c.(2392-2394)cGc>cAc	p.R798H		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	798					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GCTTTCCACGCGCTGGCCGAA	0.682																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(2392-2394)cGc>cAc		anoctamin 8							35.0	39.0	38.0					19																	17438523		2203	4299	6502	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17438523C>T	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2393G>A	19.37:g.17438523C>T	ENSP00000159087:p.Arg798His						p.R798H	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			14	2551	-			798					A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.2393G>A	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341789	0.81911	.	.	ENSG00000074855	ENST00000159087	T	0.69806	-0.43	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.84379	0.5459	M	0.88377	2.95	0.42380	D	0.992483	D	0.89917	1.0	D	0.91635	0.999	D	0.87868	0.2669	10	0.87932	D	0	.	15.9256	0.79615	0.0:1.0:0.0:0.0	.	798	Q9HCE9	ANO8_HUMAN	H	798	ENSP00000159087:R798H	ENSP00000159087:R798H	R	-	2	0	ANO8	17299523	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.603000	0.82811	2.364000	0.80123	0.436000	0.28706	CGC		0.682	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		21	36	0	0	0	1	0	21	36				
FHDC1	85462	broad.mit.edu	37	4	153897446	153897446	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:153897446G>C	ENST00000511601.1	+	12	3191	c.3003G>C	c.(3001-3003)aaG>aaC	p.K1001N	FHDC1_ENST00000260008.3_Missense_Mutation_p.K1001N			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1001									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AGGAAAATAAGACCTGCCGCG	0.632																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3001-3003)aaG>aaC		FH2 domain containing 1							35.0	44.0	41.0					4																	153897446		2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153897446G>C	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.3003G>C	4.37:g.153897446G>C	ENSP00000427567:p.Lys1001Asn					FHDC1_ENST00000260008.3_Missense_Mutation_p.K1001N	p.K1001N			Q9C0D6	FHDC1_HUMAN			12	3191	+	all_hematologic(180;0.093)		1001						Missense_Mutation	SNP	ENST00000511601.1	37	c.3003G>C	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837581	0.32513	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.47528	0.84;0.84	5.28	4.44	0.53790	.	0.946530	0.09034	N	0.858230	T	0.57169	0.2035	L	0.32530	0.975	0.47819	D	0.999526	D	0.89917	1.0	D	0.91635	0.999	T	0.41360	-0.9513	10	0.46703	T	0.11	.	8.7212	0.34441	0.2294:0.0:0.7706:0.0	.	1001	Q9C0D6	FHDC1_HUMAN	N	1001	ENSP00000427567:K1001N;ENSP00000260008:K1001N	ENSP00000260008:K1001N	K	+	3	2	FHDC1	154116896	1.000000	0.71417	0.123000	0.21794	0.065000	0.16274	3.197000	0.51028	1.233000	0.43693	-0.137000	0.14449	AAG		0.632	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		4	36	0	0	0	1	0	4	36				
GRIN2D	2906	broad.mit.edu	37	19	48945567	48945567	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:48945567C>A	ENST00000263269.3	+	12	2689	c.2601C>A	c.(2599-2601)caC>caA	p.H867Q		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	867					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTGGGAGCACCTGGTGTACT	0.647																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(2599-2601)caC>caA		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						103.0	104.0	104.0					19																	48945567		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48945567C>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2601C>A	19.37:g.48945567C>A	ENSP00000263269:p.His867Gln						p.H867Q	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	12	2689	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	867						Missense_Mutation	SNP	ENST00000263269.3	37	c.2601C>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	c	17.32	3.358961	0.61403	.	.	ENSG00000105464	ENST00000263269	T	0.56103	0.48	4.03	1.78	0.24846	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	L	0.48362	1.52	0.51012	D	0.999906	D	0.71674	0.998	D	0.76071	0.987	T	0.58880	-0.7558	10	0.87932	D	0	.	7.5122	0.27579	0.0:0.712:0.0:0.288	.	867	O15399	NMDE4_HUMAN	Q	867	ENSP00000263269:H867Q	ENSP00000263269:H867Q	H	+	3	2	GRIN2D	53637379	0.996000	0.38824	1.000000	0.80357	0.828000	0.46876	0.502000	0.22594	0.452000	0.26830	0.450000	0.29827	CAC		0.647	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			48	39	1	0	1.83081e-24	1	1.98338e-24	48	39				
ACVR2A	92	broad.mit.edu	37	2	148653873	148653873	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr2:148653873C>T	ENST00000241416.7	+	2	695	c.59C>T	c.(58-60)gCt>gTt	p.A20V	ACVR2A_ENST00000404590.1_Missense_Mutation_p.A20V|ACVR2A_ENST00000535787.1_Intron	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	20					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CTTATAGGTGCTATACTTGGT	0.333																																						ENST00000241416.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(58-60)gCt>gTt		activin A receptor, type IIA							77.0	81.0	79.0					2																	148653873		2203	4300	6503	SO:0001583	missense	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148653873C>T		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.59C>T	2.37:g.148653873C>T	ENSP00000241416:p.Ala20Val					ACVR2A_ENST00000404590.1_Missense_Mutation_p.A20V|ACVR2A_ENST00000535787.1_Intron	p.A20V	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	2	695	+			20					B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.59C>T	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271727	0.80469	.	.	ENSG00000121989	ENST00000241416;ENST00000404590	D;D	0.83755	-1.76;-1.76	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.76849	0.4045	L	0.38531	1.155	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.70876	-0.4753	10	0.19590	T	0.45	.	18.6722	0.91516	0.0:1.0:0.0:0.0	.	20	P27037	AVR2A_HUMAN	V	20	ENSP00000241416:A20V;ENSP00000384338:A20V	ENSP00000241416:A20V	A	+	2	0	ACVR2A	148370343	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.769000	0.85360	2.398000	0.81561	0.655000	0.94253	GCT		0.333	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		13	64	0	0	0	1	0	13	64				
CPSF2	53981	broad.mit.edu	37	14	92601779	92601779	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr14:92601779A>G	ENST00000298875.4	+	6	769	c.484A>G	c.(484-486)Ata>Gta	p.I162V		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	162					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AATATGGAAAATAGTCAAAGA	0.388																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.(484-486)Ata>Gta		cleavage and polyadenylation specific factor 2, 100kDa							136.0	130.0	132.0					14																	92601779		2203	4300	6503	SO:0001583	missense	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92601779A>G	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.484A>G	14.37:g.92601779A>G	ENSP00000298875:p.Ile162Val						p.I162V	NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	6	769	+		all_cancers(154;0.0766)	162					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.484A>G	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.732731	0.89482	.	.	ENSG00000165934	ENST00000298875	T	0.56611	0.45	6.03	6.03	0.97812	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	T	0.72716	0.3495	M	0.81682	2.555	0.80722	D	1	D	0.58970	0.984	D	0.64237	0.923	T	0.74297	-0.3711	10	0.46703	T	0.11	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	162	Q9P2I0	CPSF2_HUMAN	V	162	ENSP00000298875:I162V	ENSP00000298875:I162V	I	+	1	0	CPSF2	91671532	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.228000	0.95250	2.308000	0.77769	0.533000	0.62120	ATA		0.388	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			3	109	0	0	0	1	0	3	109				
PKHD1	5314	broad.mit.edu	37	6	51799071	51799071	+	Silent	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:51799071G>A	ENST00000371117.3	-	37	6233	c.5958C>T	c.(5956-5958)caC>caT	p.H1986H	PKHD1_ENST00000340994.4_Silent_p.H1986H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1986	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAAGGATGGCGTGTGCCCTGA	0.537											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(5956-5958)caC>caT		polycystic kidney and hepatic disease 1 (autosomal recessive)							114.0	105.0	108.0					6																	51799071		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51799071G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5958C>T	6.37:g.51799071G>A			OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	980	PKHD1_ENST00000340994.4_Silent_p.H1986H	p.H1986H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			37	6233	-	Lung NSC(77;0.0605)		1986			G8 1.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.5958C>T	CCDS4935.1																																																																																				0.537	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		5	122	0	0	0	1	0	5	122				
AGBL2	79841	broad.mit.edu	37	11	47726176	47726176	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:47726176T>C	ENST00000525123.1	-	7	790	c.505A>G	c.(505-507)Att>Gtt	p.I169V	AGBL2_ENST00000298861.4_Missense_Mutation_p.I169V|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.I131V|AGBL2_ENST00000357610.3_Missense_Mutation_p.I169V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	169						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GTAGACAAAATGGAAAAGAGC	0.428																																						ENST00000525123.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(505-507)Att>Gtt		ATP/GTP binding protein-like 2							136.0	129.0	131.0					11																	47726176		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47726176T>C		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.505A>G	11.37:g.47726176T>C	ENSP00000435582:p.Ile169Val					AGBL2_ENST00000357610.3_Missense_Mutation_p.I169V|AGBL2_ENST00000298861.4_Missense_Mutation_p.I169V|AGBL2_ENST00000528244.1_Missense_Mutation_p.I131V|AGBL2_ENST00000529712.1_5'UTR	p.I169V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			7	790	-			169					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.505A>G	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	T	0.046	-1.265297	0.01433	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000530577	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.33	-1.76	0.08006	.	0.728523	0.13310	N	0.397594	T	0.21022	0.0506	N	0.16903	0.455	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.12156	0.007;0.003;0.003	T	0.29792	-1.0000	10	0.02654	T	1	-1.1868	4.9566	0.14044	0.2479:0.0:0.3733:0.3788	.	131;131;169	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	V	169;169;169;131;113;113;111	ENSP00000435582:I169V;ENSP00000350228:I169V;ENSP00000298861:I169V;ENSP00000436630:I131V;ENSP00000436063:I113V;ENSP00000432264:I111V	ENSP00000298861:I169V	I	-	1	0	AGBL2	47682752	0.000000	0.05858	0.000000	0.03702	0.522000	0.34438	-0.564000	0.05936	-0.630000	0.05567	-0.649000	0.03915	ATT		0.428	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		15	61	0	0	0	1	0	15	61				
AREG	374	broad.mit.edu	37	4	75312475	75312475	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:75312475T>C	ENST00000395748.3	+	2	498	c.286T>C	c.(286-288)Tat>Cat	p.Y96H	AREG_ENST00000264487.2_Missense_Mutation_p.Y96H|AREG_ENST00000502307.1_Missense_Mutation_p.Y96H	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	96					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|G-protein coupled receptor signaling pathway (GO:0007186)|glial cell proliferation (GO:0014009)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in thelarche (GO:0060744)|negative regulation of osteoblast differentiation (GO:0045668)|neuron projection development (GO:0031175)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of phosphorylation (GO:0042327)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to peptide hormone (GO:0043434)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	growth factor activity (GO:0008083)			lung(4)	4			Lung(101;0.196)			AATACCTGGCTATATTGTCGA	0.443																																						ENST00000395748.3																			0				lung(4)	4						c.(286-288)Tat>Cat		amphiregulin							95.0	109.0	104.0					4																	75312475		2200	4298	6498	SO:0001583	missense	374				cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity	g.chr4:75312475T>C	M30704	CCDS3565.1	4q13.3	2014-06-19	2008-08-01		ENSG00000109321	ENSG00000109321		"""Endogenous ligands"""	651	protein-coding gene	gene with protein product		104640	"""schwannoma-derived growth factor"", ""amphiregulin B"""	SDGF, AREGB			Standard	NM_001657		Approved		uc021xpc.1	P15514	OTTHUMG00000130006	ENST00000395748.3:c.286T>C	4.37:g.75312475T>C	ENSP00000379097:p.Tyr96His					AREG_ENST00000264487.2_Missense_Mutation_p.Y96H|AREG_ENST00000502307.1_Missense_Mutation_p.Y96H	p.Y96H	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	Lung(101;0.196)		2	498	+			96					Q5U026	Missense_Mutation	SNP	ENST00000395748.3	37	c.286T>C	CCDS3565.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.673499	0.47781	.	.	ENSG00000109321	ENST00000395748;ENST00000264487;ENST00000502307	T;T;T	0.16196	2.36;2.36;2.55	5.23	5.23	0.72850	.	0.125809	0.52532	D	0.000064	T	0.33118	0.0852	M	0.76574	2.34	0.34289	D	0.68308	D	0.54964	0.969	P	0.54759	0.76	T	0.51348	-0.8717	10	0.45353	T	0.12	-13.683	11.8027	0.52137	0.0:0.0:0.0:1.0	.	96	P15514	AREG_HUMAN	H	96	ENSP00000379097:Y96H;ENSP00000264487:Y96H;ENSP00000421414:Y96H	ENSP00000264487:Y96H	Y	+	1	0	AREG	75531339	1.000000	0.71417	0.956000	0.39512	0.166000	0.22503	4.216000	0.58540	2.103000	0.63969	0.455000	0.32223	TAT		0.443	AREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252277.1			5	131	0	0	0	1	0	5	131				
PLEKHN1	84069	broad.mit.edu	37	1	907741	907741	+	Silent	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:907741C>T	ENST00000379409.2	+	9	1125	c.1095C>T	c.(1093-1095)cgC>cgT	p.R365R	PLEKHN1_ENST00000379407.3_Silent_p.R325R|PLEKHN1_ENST00000379410.3_Silent_p.R313R			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	365	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGTGCCTTCGCGCTGTCACCC	0.677																																						ENST00000379409.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9						c.(1093-1095)cgC>cgT		pleckstrin homology domain containing, family N member 1							20.0	19.0	19.0					1																	907741		2194	4290	6484	SO:0001819	synonymous_variant	84069							g.chr1:907741C>T	AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.1095C>T	1.37:g.907741C>T						PLEKHN1_ENST00000379407.2_Silent_p.R325R|PLEKHN1_ENST00000379410.3_Silent_p.R313R	p.R365R			Q494U1	PKHN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	9	1125	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	365			PH 2.		Q494U2|Q5SV98|Q9H0M7	Silent	SNP	ENST00000379409.2	37	c.1095C>T																																																																																					0.677	PLEKHN1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000473256.1	NM_032129		5	18	0	0	0	1	0	5	18				
OR2M3	127062	broad.mit.edu	37	1	248366731	248366731	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:248366731A>G	ENST00000456743.1	+	1	400	c.362A>G	c.(361-363)gAc>gGc	p.D121G		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGCTTATGACCGCTACACT	0.463																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(361-363)gAc>gGc		olfactory receptor, family 2, subfamily M, member 3							220.0	224.0	223.0					1																	248366731		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366731A>G		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.362A>G	1.37:g.248366731A>G	ENSP00000389625:p.Asp121Gly						p.D121G	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	400	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		121					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.362A>G	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	A	17.03	3.284484	0.59867	.	.	ENSG00000228198	ENST00000456743	T	0.55588	0.51	2.55	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33753	U	0.004586	T	0.80783	0.4689	H	0.98446	4.235	0.34942	D	0.75043	D	0.89917	1.0	D	0.97110	1.0	D	0.88240	0.2909	10	0.87932	D	0	.	10.4551	0.44546	1.0:0.0:0.0:0.0	.	121	Q8NG83	OR2M3_HUMAN	G	121	ENSP00000389625:D121G	ENSP00000389625:D121G	D	+	2	0	OR2M3	246433354	1.000000	0.71417	0.291000	0.24904	0.011000	0.07611	6.681000	0.74523	1.168000	0.42723	0.333000	0.21579	GAC		0.463	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		20	234	0	0	0	1	0	20	234				
KIF21A	55605	broad.mit.edu	37	12	39763628	39763628	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr12:39763628A>C	ENST00000361418.5	-	3	368	c.353T>G	c.(352-354)gTt>gGt	p.V118G	KIF21A_ENST00000541463.2_Missense_Mutation_p.V118G|KIF21A_ENST00000544797.2_Missense_Mutation_p.V118G|KIF21A_ENST00000395670.3_Missense_Mutation_p.V118G|KIF21A_ENST00000361961.3_Missense_Mutation_p.V118G			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	118	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGGTGTTTAACAGCTCGAGA	0.348																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(352-354)gTt>gGt		kinesin family member 21A							91.0	86.0	87.0					12																	39763628		2202	4299	6501	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39763628A>C	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.353T>G	12.37:g.39763628A>C	ENSP00000354878:p.Val118Gly					KIF21A_ENST00000361418.5_Missense_Mutation_p.V118G|KIF21A_ENST00000541463.2_Missense_Mutation_p.V118G|KIF21A_ENST00000544797.2_Missense_Mutation_p.V118G|KIF21A_ENST00000361961.3_Missense_Mutation_p.V118G	p.V118G			Q7Z4S6	KI21A_HUMAN			3	772	-		Lung NSC(34;0.179)|all_lung(34;0.213)	118			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.353T>G	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.146211	0.77888	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.19	5.19	0.71726	Kinesin, motor domain (4);	0.000000	0.43919	D	0.000502	D	0.86707	0.5997	M	0.68728	2.09	0.80722	D	1	D;D;D;D;D	0.89917	0.988;0.985;0.988;1.0;0.996	D;D;P;D;P	0.91635	0.914;0.987;0.883;0.999;0.903	D	0.88282	0.2937	10	0.87932	D	0	.	15.3649	0.74513	1.0:0.0:0.0:0.0	.	118;118;118;118;118	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	G	118	ENSP00000354851:V118G;ENSP00000379029:V118G;ENSP00000445606:V118G;ENSP00000354878:V118G;ENSP00000438075:V118G	ENSP00000344501:V118G	V	-	2	0	KIF21A	38049895	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.402000	0.90205	2.091000	0.63221	0.455000	0.32223	GTT		0.348	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		10	38	0	0	0	1	0	10	38				
CACNA1S	779	broad.mit.edu	37	1	201046152	201046152	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:201046152G>A	ENST00000362061.3	-	12	1949	c.1723C>T	c.(1723-1725)Ctc>Ttc	p.L575F	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L575F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	575					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGCCCAGGAGGGCGAAGATG	0.567																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1723-1725)Ctc>Ttc		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						157.0	138.0	144.0					1																	201046152		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201046152G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1723C>T	1.37:g.201046152G>A	ENSP00000355192:p.Leu575Phe					CACNA1S_ENST00000367338.3_Missense_Mutation_p.L575F	p.L575F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			12	1949	-			575					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1723C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315243	0.81358	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98822	-5.16;-5.16	4.45	3.48	0.39840	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.99315	0.9760	H	0.96048	3.76	0.53688	D	0.999973	D	0.89917	1.0	D	0.97110	1.0	D	0.98997	1.0810	10	0.87932	D	0	.	10.8592	0.46817	0.101:0.0:0.899:0.0	.	575	Q13698	CAC1S_HUMAN	F	575	ENSP00000355192:L575F;ENSP00000356307:L575F	ENSP00000355192:L575F	L	-	1	0	CACNA1S	199312775	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.600000	0.82769	0.924000	0.37069	0.549000	0.68633	CTC		0.567	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		7	129	0	0	0	1	0	7	129				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			36	48	0	0	0	1	0	36	48				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		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.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and 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; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	3	0	0	0	1	0	24	3				
NOTCH4	4855	broad.mit.edu	37	6	32188018	32188018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:32188018G>T	ENST00000375023.3	-	7	1341	c.1203C>A	c.(1201-1203)tgC>tgA	p.C401*		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	401	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CATCCCCATGGCACGGCTGGC	0.622																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(1201-1203)tgC>tgA		notch 4							71.0	71.0	71.0					6																	32188018		2203	4300	6503	SO:0001587	stop_gained	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32188018G>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1203C>A	6.37:g.32188018G>T	ENSP00000364163:p.Cys401*						p.C401*	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			7	1341	-			401			EGF-like 10.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Nonsense_Mutation	SNP	ENST00000375023.3	37	c.1203C>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	35	5.526074	0.96431	.	.	ENSG00000204301	ENST00000375023	.	.	.	4.16	3.29	0.37713	.	0.000000	0.44285	D	0.000473	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6396	0.39831	0.1043:0.0:0.8957:0.0	.	.	.	.	X	401	.	ENSP00000364163:C401X	C	-	3	2	NOTCH4	32295996	1.000000	0.71417	0.952000	0.39060	0.529000	0.34654	2.274000	0.43390	0.952000	0.37798	0.305000	0.20034	TGC		0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			13	76	1	0	8.60227e-14	1	9.19147e-14	13	76				
TUBGCP6	85378	broad.mit.edu	37	22	50659212	50659212	+	Silent	SNP	A	A	G	rs141527317	byFrequency	TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr22:50659212A>G	ENST00000248846.5	-	16	3680	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000439308.2_Silent_p.S1192S|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													N|||	3	0.000599042	0.0	0.0	5008	,	,		21823	0.002		0.0	False		,,,				2504	0.001					ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(3574-3576)tcT>tcC		tubulin, gamma complex associated protein 6		G		1,4405		0,1,2202	74.0	68.0	70.0		3576	-9.2	0.0	22	dbSNP_134	70	1,8599		0,1,4299	no	coding-synonymous	TUBGCP6	NM_020461.3		0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154		1192/1820	50659212	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50659212A>G	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.3576T>C	22.37:g.50659212A>G						TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.S1192S	p.S1192S	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	16	4068	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1192			9 X 27 AA tandem repeats.		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	ENST00000248846.5	37	c.3576T>C	CCDS14087.1																																																																																				0.617	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		4	93	0	0	0	1	0	4	93				
LRP1B	53353	broad.mit.edu	37	2	141739804	141739804	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr2:141739804G>A	ENST00000389484.3	-	18	3783	c.2812C>T	c.(2812-2814)Cgt>Tgt	p.R938C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	938	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGAATGCAACGCCCATTTCCG	0.423										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(2812-2814)Cgt>Tgt		low density lipoprotein receptor-related protein 1B							126.0	112.0	117.0					2																	141739804		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141739804G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2812C>T	2.37:g.141739804G>A	ENSP00000374135:p.Arg938Cys	TSP Lung(27;0.18)					p.R938C	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	18	3783	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	938			LDL-receptor class A 5.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2812C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028315	0.75390	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.96136	-3.92;-3.92	5.43	5.43	0.79202	.	0.000000	0.64402	U	0.000001	D	0.97974	0.9333	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.87578	0.998;0.861	D	0.98595	1.0656	10	0.72032	D	0.01	.	19.2402	0.93879	0.0:0.0:1.0:0.0	.	121;938	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	C	938;876;83	ENSP00000374135:R938C;ENSP00000413239:R83C	ENSP00000374135:R938C	R	-	1	0	LRP1B	141456274	1.000000	0.71417	0.988000	0.46212	0.895000	0.52256	5.944000	0.70219	2.538000	0.85594	0.655000	0.94253	CGT		0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		16	85	0	0	0	1	0	16	85				
ZNF563	147837	broad.mit.edu	37	19	12429722	12429722	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:12429722T>C	ENST00000293725.5	-	4	1322	c.1117A>G	c.(1117-1119)Acg>Gcg	p.T373A		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TGAGATAACGTTTTCCCACAC	0.413																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1117-1119)Acg>Gcg		zinc finger protein 563							191.0	181.0	184.0					19																	12429722		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12429722T>C	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1117A>G	19.37:g.12429722T>C	ENSP00000293725:p.Thr373Ala						p.T373A	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	1322	-			373					B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.1117A>G	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.253024	0.00268	.	.	ENSG00000188868	ENST00000293725	T	0.03745	3.82	1.0	-1.65	0.08291	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01320	0.0043	N	0.05259	-0.085	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45963	-0.9225	9	0.02654	T	1	.	2.3025	0.04165	0.3613:0.2701:0.0:0.3686	.	373	Q8TA94	ZN563_HUMAN	A	373	ENSP00000293725:T373A	ENSP00000293725:T373A	T	-	1	0	ZNF563	12290722	0.000000	0.05858	0.003000	0.11579	0.233000	0.25261	-3.012000	0.00647	-0.501000	0.06605	-0.765000	0.03448	ACG		0.413	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		4	208	0	0	0	1	0	4	208				
NRCAM	4897	broad.mit.edu	37	7	107823139	107823139	+	Splice_Site	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr7:107823139G>A	ENST00000425651.2	-	20	2529	c.2530C>T	c.(2530-2532)Ctc>Ttc	p.L844F	NRCAM_ENST00000413765.2_Splice_Site_p.L825F|NRCAM_ENST00000379028.3_Splice_Site_p.L844F|NRCAM_ENST00000351718.4_Splice_Site_p.L828F|NRCAM_ENST00000379024.4_Splice_Site_p.L825F|NRCAM_ENST00000379022.4_Splice_Site_p.L844F	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	844					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CATCACTTACGGTCTTCTCCA	0.522																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.e23+1		neuronal cell adhesion molecule							72.0	69.0	70.0					7																	107823139		2203	4300	6503	SO:0001630	splice_region_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107823139G>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2530+1C>T	7.37:g.107823139G>A						NRCAM_ENST00000351718.4_Splice_Site_p.L828_splice|NRCAM_ENST00000425651.2_Splice_Site_p.L844_splice|NRCAM_ENST00000413765.2_Splice_Site_p.L825_splice|NRCAM_ENST00000379022.4_Splice_Site_p.L844_splice|NRCAM_ENST00000379024.4_Splice_Site_p.L825_splice	p.L844_splice			Q92823	NRCAM_HUMAN			23	3000	-			844					A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Splice_Site	SNP	ENST00000425651.2	37	c.2530_splice	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544670	0.45280	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T;T	0.59083	0.29;0.57;0.29;0.35;0.29;0.33	6.05	5.07	0.68467	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.139857	0.48767	D	0.000170	T	0.34861	0.0912	N	0.21545	0.675	0.80722	D	1	B;B;B;B;B	0.30870	0.298;0.225;0.152;0.056;0.045	B;B;B;B;B	0.26517	0.07;0.063;0.051;0.051;0.011	T	0.23332	-1.0191	9	.	.	.	.	4.0516	0.09798	0.3063:0.0:0.6937:0.0	.	844;825;825;828;844	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	F	844;844;825;844;828;825;844;844	ENSP00000368314:L844F;ENSP00000407858:L825F;ENSP00000325269:L828F;ENSP00000368310:L825F;ENSP00000401244:L844F;ENSP00000368308:L844F	.	L	-	1	0	NRCAM	107610375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.515000	0.45512	2.866000	0.98385	0.650000	0.86243	CTC		0.522	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132	Missense_Mutation	19	35	0	0	0	1	0	19	35				
FAM169A	26049	broad.mit.edu	37	5	74130350	74130350	+	Silent	SNP	T	T	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr5:74130350T>G	ENST00000389156.4	-	5	481	c.391A>C	c.(391-393)Aga>Cga	p.R131R	FAM169A_ENST00000380515.3_Intron|FAM169A_ENST00000510496.1_Silent_p.R131R	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	131						membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						ATCTCATTTCTCTCCATTTCC	0.418																																						ENST00000389156.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						c.(391-393)Aga>Cga		family with sequence similarity 169, member A							127.0	116.0	120.0					5																	74130350		1853	4091	5944	SO:0001819	synonymous_variant	26049							g.chr5:74130350T>G		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.391A>C	5.37:g.74130350T>G						FAM169A_ENST00000380515.3_Intron|FAM169A_ENST00000510496.1_Silent_p.R131R	p.R131R	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN			5	481	-			131					A8K1T9|Q6MZT0|Q9H989	Silent	SNP	ENST00000389156.4	37	c.391A>C	CCDS43330.1																																																																																				0.418	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2			3	50	0	0	0	1	0	3	50				
CENPF	1063	broad.mit.edu	37	1	214803886	214803886	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:214803886C>T	ENST00000366955.3	+	9	1372	c.1204C>T	c.(1204-1206)Cgt>Tgt	p.R402C		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.R402S(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGAGCTCTCCCGTCAACAGCG	0.537																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			1	Substitution - Missense(1)	p.R402S(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(1204-1206)Cgt>Tgt		centromere protein F, 350/400kDa							224.0	207.0	213.0					1																	214803886		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214803886C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1204C>T	1.37:g.214803886C>T	ENSP00000355922:p.Arg402Cys						p.R402C	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	9	1372	+			402			Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.1204C>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031891	0.35893	.	.	ENSG00000117724	ENST00000366955	T	0.78816	-1.21	5.46	3.6	0.41247	.	0.208186	0.24412	N	0.038757	T	0.61739	0.2371	.	.	.	0.43902	D	0.996533	P	0.41313	0.745	B	0.28305	0.088	T	0.58945	-0.7546	9	0.39692	T	0.17	.	8.7431	0.34569	0.0:0.7447:0.0:0.2553	.	402	P49454	CENPF_HUMAN	C	402	ENSP00000355922:R402C	ENSP00000355922:R402C	R	+	1	0	CENPF	212870509	0.790000	0.28787	0.151000	0.22473	0.169000	0.22640	1.476000	0.35420	0.788000	0.33755	0.655000	0.94253	CGT		0.537	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		33	217	0	0	0	1	0	33	217				
SLITRK5	26050	broad.mit.edu	37	13	88329160	88329160	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr13:88329160A>G	ENST00000325089.6	+	2	1736	c.1517A>G	c.(1516-1518)aAc>aGc	p.N506S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.N265S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	506					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.N506I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCGGTCCCAAACCTCCAGCTG	0.532																																						ENST00000325089.6																			1	Substitution - Missense(1)	p.N506I(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1516-1518)aAc>aGc		SLIT and NTRK-like family, member 5							70.0	74.0	73.0					13																	88329160		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88329160A>G	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1517A>G	13.37:g.88329160A>G	ENSP00000366283:p.Asn506Ser					SLITRK5_ENST00000400028.3_Missense_Mutation_p.N265S	p.N506S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1736	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		506					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.1517A>G	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.334001	0.41297	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.58210	0.35;0.35	5.23	5.23	0.72850	.	0.051554	0.85682	D	0.000000	T	0.56499	0.1989	L	0.37750	1.13	0.43355	D	0.995421	P;P	0.45474	0.774;0.859	P;P	0.55667	0.781;0.759	T	0.53450	-0.8437	9	.	.	.	-20.4021	13.0649	0.59028	1.0:0.0:0.0:0.0	.	265;506	B4DSH5;O94991	.;SLIK5_HUMAN	S	506;265	ENSP00000366283:N506S;ENSP00000442244:N265S	.	N	+	2	0	SLITRK5	87127161	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	6.327000	0.72910	1.964000	0.57103	0.459000	0.35465	AAC		0.532	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			31	56	0	0	0	1	0	31	56				
NCOA7	135112	broad.mit.edu	37	6	126210341	126210341	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:126210341T>C	ENST00000368357.3	+	10	1493	c.1141T>C	c.(1141-1143)Tcc>Ccc	p.S381P	NCOA7_ENST00000229634.9_Missense_Mutation_p.S266P|NCOA7_ENST00000392477.2_Missense_Mutation_p.S381P	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	381					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TAGGGAGACATCCCATGGTTC	0.458																																						ENST00000368357.3																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39						c.(1141-1143)Tcc>Ccc		nuclear receptor coactivator 7							64.0	65.0	65.0					6																	126210341		2203	4300	6503	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126210341T>C	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.1141T>C	6.37:g.126210341T>C	ENSP00000357341:p.Ser381Pro					NCOA7_ENST00000229634.9_Missense_Mutation_p.S266P|NCOA7_ENST00000392477.2_Missense_Mutation_p.S381P	p.S381P	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	10	1493	+			381					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.1141T>C	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	T	2.855	-0.237459	0.05944	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.30182	2.74;2.74;2.74;1.54	4.86	-8.06	0.01102	.	1.075970	0.07118	N	0.843320	T	0.04048	0.0113	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35325	-0.9793	10	0.35671	T	0.21	.	4.344	0.11124	0.4314:0.096:0.3739:0.0987	.	370;370;381	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	P	381;381;266;179	ENSP00000357341:S381P;ENSP00000376269:S381P;ENSP00000229634:S266P;ENSP00000389186:S179P	ENSP00000229634:S266P	S	+	1	0	NCOA7	126252034	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.755000	0.04782	-1.195000	0.02680	-1.263000	0.01449	TCC		0.458	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		7	31	0	0	0	1	0	7	31				
KIF21A	55605	broad.mit.edu	37	12	39763607	39763607	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr12:39763607A>G	ENST00000361418.5	-	3	389	c.374T>C	c.(373-375)aTt>aCt	p.I125T	KIF21A_ENST00000541463.2_Missense_Mutation_p.I125T|KIF21A_ENST00000544797.2_Missense_Mutation_p.I125T|KIF21A_ENST00000395670.3_Missense_Mutation_p.I125T|KIF21A_ENST00000361961.3_Missense_Mutation_p.I125T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	125	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTTTTCTTCAATACTCTTAAA	0.338																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(373-375)aTt>aCt		kinesin family member 21A							79.0	76.0	77.0					12																	39763607		2202	4298	6500	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39763607A>G	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.374T>C	12.37:g.39763607A>G	ENSP00000354878:p.Ile125Thr					KIF21A_ENST00000361418.5_Missense_Mutation_p.I125T|KIF21A_ENST00000541463.2_Missense_Mutation_p.I125T|KIF21A_ENST00000544797.2_Missense_Mutation_p.I125T|KIF21A_ENST00000361961.3_Missense_Mutation_p.I125T	p.I125T			Q7Z4S6	KI21A_HUMAN			3	793	-		Lung NSC(34;0.179)|all_lung(34;0.213)	125			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.374T>C	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.870686	0.72065	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	5.19	5.19	0.71726	Kinesin, motor domain (4);	0.000000	0.49305	D	0.000142	D	0.85270	0.5658	M	0.64080	1.96	0.58432	D	0.999999	D;B;D;P;B	0.60575	0.988;0.322;0.988;0.656;0.224	D;B;D;P;B	0.63957	0.92;0.328;0.92;0.609;0.217	D	0.87080	0.2165	10	0.87932	D	0	.	15.3649	0.74513	1.0:0.0:0.0:0.0	.	125;125;125;125;125	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	T	125	ENSP00000354851:I125T;ENSP00000379029:I125T;ENSP00000445606:I125T;ENSP00000354878:I125T;ENSP00000438075:I125T	ENSP00000344501:I125T	I	-	2	0	KIF21A	38049874	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.402000	0.90205	2.091000	0.63221	0.455000	0.32223	ATT		0.338	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		6	23	0	0	0	1	0	6	23				
NPY1R	4886	broad.mit.edu	37	4	164246852	164246852	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:164246852T>C	ENST00000296533.2	-	3	1289	c.758A>G	c.(757-759)tAc>tGc	p.Y253C	NPY1R_ENST00000509586.1_Missense_Mutation_p.Y10C	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	253					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACTGGACCTGTACTTATTGTC	0.368																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(757-759)tAc>tGc		neuropeptide Y receptor Y1							86.0	81.0	82.0					4																	164246852		2203	4300	6503	SO:0001583	missense	0				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164246852T>C		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.758A>G	4.37:g.164246852T>C	ENSP00000354652:p.Tyr253Cys					NPY1R_ENST00000509586.1_Missense_Mutation_p.Y10C	p.Y253C	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			3	1289	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	253					B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.758A>G	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	T	9.463	1.093500	0.20471	.	.	ENSG00000164128	ENST00000296533;ENST00000509586;ENST00000504391;ENST00000512819	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	5.84	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.151795	0.45361	N	0.000369	T	0.29882	0.0747	L	0.40543	1.245	0.50632	D	0.999887	B	0.06786	0.001	B	0.08055	0.003	T	0.04281	-1.0963	10	0.38643	T	0.18	.	11.8057	0.52155	0.0:0.0683:0.0:0.9317	.	253	P25929	NPY1R_HUMAN	C	253;10;10;75	ENSP00000354652:Y253C;ENSP00000427284:Y10C;ENSP00000422963:Y10C;ENSP00000421618:Y75C	ENSP00000354652:Y253C	Y	-	2	0	NPY1R	164466302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.388000	0.44398	1.044000	0.40200	0.533000	0.62120	TAC		0.368	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			11	30	0	0	0	1	0	11	30				
SIMC1	375484	broad.mit.edu	37	5	175716891	175716891	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr5:175716891C>T	ENST00000443967.1	+	4	714	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.R122W|SIMC1_ENST00000503595.1_3'UTR			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	103							SUMO polymer binding (GO:0032184)										GCCTACAGCACGGAGAATCAT	0.522																																						ENST00000443967.1																			0											c.(307-309)Cgg>Tgg		SUMO-interacting motifs containing 1							99.0	91.0	94.0					5																	175716891		2203	4300	6503	SO:0001583	missense	375484							g.chr5:175716891C>T	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.307C>T	5.37:g.175716891C>T	ENSP00000406571:p.Arg103Trp					SIMC1_ENST00000503595.1_3'UTR|SIMC1_ENST00000429602.2_Missense_Mutation_p.R122W|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron	p.R103W							4	714	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37	c.307C>T		.	.	.	.	.	.	.	.	.	.	C	5.224	0.226916	0.09916	.	.	ENSG00000170085	ENST00000443967;ENST00000429602;ENST00000377277	T;T	0.34072	2.14;1.38	4.31	2.43	0.29744	.	1.126870	0.06881	N	0.802559	T	0.40247	0.1109	.	.	.	0.09310	N	1	D;D	0.67145	0.996;0.993	P;P	0.50708	0.648;0.453	T	0.34079	-0.9843	9	0.87932	D	0	-0.3351	6.4836	0.22077	0.2074:0.5918:0.2008:0.0	.	122;103	B4DRM7;Q8NDZ2	.;CE025_HUMAN	W	103;122;14	ENSP00000406571:R103W;ENSP00000410552:R122W	ENSP00000366489:R14W	R	+	1	2	C5orf25	175649497	0.000000	0.05858	0.118000	0.21660	0.009000	0.06853	0.522000	0.22909	2.227000	0.72691	0.603000	0.83216	CGG		0.522	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		13	86	0	0	0	1	0	13	86				
FAM47C	442444	broad.mit.edu	37	X	37028134	37028134	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chrX:37028134C>T	ENST00000358047.3	+	1	1703	c.1651C>T	c.(1651-1653)Cct>Tct	p.P551S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	551										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAGAGCCTCCTGAGACTGG	0.617																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1651-1653)Cct>Tct		family with sequence similarity 47, member C							57.0	63.0	61.0					X																	37028134		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37028134C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1651C>T	X.37:g.37028134C>T	ENSP00000367913:p.Pro551Ser						p.P551S	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1703	+			551					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1651C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	13.89	2.371516	0.42003	.	.	ENSG00000198173	ENST00000358047	T	0.22134	1.97	1.66	1.66	0.24008	.	.	.	.	.	T	0.27731	0.0682	M	0.62266	1.93	0.18873	N	0.999988	D	0.55172	0.97	P	0.51615	0.675	T	0.14504	-1.0470	9	0.16420	T	0.52	.	9.154	0.36980	0.0:1.0:0.0:0.0	.	551	Q5HY64	FA47C_HUMAN	S	551	ENSP00000367913:P551S	ENSP00000367913:P551S	P	+	1	0	FAM47C	36938055	0.007000	0.16637	0.019000	0.16419	0.025000	0.11179	1.072000	0.30678	0.792000	0.33850	0.409000	0.27619	CCT		0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	63	0	0	0	1	0	3	63				
ZBTB49	166793	broad.mit.edu	37	4	4304568	4304568	+	Silent	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:4304568G>A	ENST00000337872.4	+	3	1126	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Silent_p.K335K	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GTTTGACAAAGAGGTTGGAAT	0.398																																						ENST00000337872.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(1003-1005)aaG>aaA		zinc finger and BTB domain containing 49							61.0	61.0	61.0					4																	4304568		2203	4300	6503	SO:0001819	synonymous_variant	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4304568G>A	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1005G>A	4.37:g.4304568G>A						ZBTB49_ENST00000355834.3_Silent_p.K335K|ZBTB49_ENST00000538529.1_5'UTR	p.K335K	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			3	1126	+			335					Q59FJ4|Q5EBN0|Q8TB80	Silent	SNP	ENST00000337872.4	37	c.1005G>A	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	G	3.815	-0.038847	0.07497	.	.	ENSG00000168826	ENST00000504302	.	.	.	5.57	1.92	0.25849	.	.	.	.	.	T	0.35885	0.0947	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.23226	-1.0194	4	.	.	.	.	9.5368	0.39226	0.379:0.0:0.621:0.0	.	.	.	.	K	72	.	.	R	+	2	0	ZBTB49	4355469	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	0.790000	0.26900	0.414000	0.25790	-0.218000	0.12543	AGA		0.398	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		24	30	0	0	0	1	0	24	30				
NLRP9	338321	broad.mit.edu	37	19	56244181	56244181	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:56244181G>A	ENST00000332836.2	-	2	1043	c.1016C>T	c.(1015-1017)aCg>aTg	p.T339M		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	339	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.T339M(2)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAACCAGCACGTAAAGGGATT	0.413																																						ENST00000332836.2																			2	Substitution - Missense(2)	p.T339M(2)	breast(1)|kidney(1)	NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(1015-1017)aCg>aTg		NLR family, pyrin domain containing 9							103.0	98.0	100.0					19																	56244181		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56244181G>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1016C>T	19.37:g.56244181G>A	ENSP00000331857:p.Thr339Met						p.T339M	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1043	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	339			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.1016C>T	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	G	4.798	0.148339	0.09134	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	D	0.83992	-1.79	2.56	0.451	0.16629	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.54078	0.1836	N	0.01168	-0.975	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.47935	-0.9078	9	0.48119	T	0.1	.	2.2957	0.04150	0.5138:0.0:0.2668:0.2194	.	339	Q7RTR0	NALP9_HUMAN	M	339	ENSP00000331857:T339M	ENSP00000331857:T339M	T	-	2	0	NLRP9	60935993	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.717000	0.25851	0.027000	0.15297	-0.304000	0.09214	ACG		0.413	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		36	29	0	0	0	1	0	36	29				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	59	0	0	0	1	0	3	59				
PCDHA7	56141	broad.mit.edu	37	5	140214183	140214183	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr5:140214183G>A	ENST00000525929.1	+	1	215	c.215G>A	c.(214-216)gGg>gAg	p.G72E	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G72E|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	72	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATTCCGTGGGGATCTTCTG	0.617																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(214-216)gGg>gAg									106.0	125.0	119.0					5																	140214183		2203	4300	6503	SO:0001583	missense	0							g.chr5:140214183G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.215G>A	5.37:g.140214183G>A	ENSP00000436426:p.Gly72Glu					PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G72E|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	p.G72E	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	215	+								O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.215G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	7.989	0.752880	0.15778	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.25250	1.81;1.81	4.17	3.27	0.37495	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.278399	0.18871	U	0.128823	T	0.18130	0.0435	L	0.33245	0.995	0.22675	N	0.998869	B;P	0.36125	0.289;0.538	B;B	0.35182	0.08;0.197	T	0.09997	-1.0649	10	0.44086	T	0.13	.	8.2532	0.31739	0.0869:0.1722:0.7409:0.0	.	72;72	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	E	72	ENSP00000436426:G72E;ENSP00000367365:G72E	ENSP00000367365:G72E	G	+	2	0	PCDHA7	140194367	0.000000	0.05858	0.951000	0.38953	0.531000	0.34715	-0.463000	0.06696	0.797000	0.33971	0.449000	0.29647	GGG		0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		8	273	0	0	0	1	0	8	273				
TIAM2	26230	broad.mit.edu	37	6	155458449	155458449	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:155458449T>C	ENST00000461783.3	+	7	2606	c.1333T>C	c.(1333-1335)Tcc>Ccc	p.S445P	TIAM2_ENST00000360366.4_Missense_Mutation_p.S445P|TIAM2_ENST00000318981.5_Missense_Mutation_p.S445P|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.S445P|TIAM2_ENST00000456144.1_Missense_Mutation_p.S445P			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	445					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAGAAGTGAATCCACACATGC	0.498																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(1333-1335)Tcc>Ccc		T-cell lymphoma invasion and metastasis 2							105.0	109.0	108.0					6																	155458449		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155458449T>C		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1333T>C	6.37:g.155458449T>C	ENSP00000437188:p.Ser445Pro					TIAM2_ENST00000318981.5_Missense_Mutation_p.S445P|TIAM2_ENST00000360366.4_Missense_Mutation_p.S445P|TIAM2_ENST00000529824.2_Missense_Mutation_p.S445P|TIAM2_ENST00000456144.1_Missense_Mutation_p.S445P|TIAM2_ENST00000367174.2_5'UTR	p.S445P			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	7	2606	+		Ovarian(120;0.196)	445					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.1333T>C	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.572132	0.86542	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.12039	2.81;2.72;2.8;2.81;2.83;2.8	6.08	6.08	0.98989	.	0.058261	0.64402	D	0.000001	T	0.31888	0.0811	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.04678	-1.0934	10	0.42905	T	0.14	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	445	Q8IVF5	TIAM2_HUMAN	P	445;691;445;445;445;445;445	ENSP00000437188:S445P;ENSP00000434901:S445P;ENSP00000407746:S445P;ENSP00000327315:S445P;ENSP00000353528:S445P;ENSP00000433348:S445P	ENSP00000327315:S445P	S	+	1	0	TIAM2	155500141	1.000000	0.71417	0.944000	0.38274	0.808000	0.45660	5.441000	0.66569	2.333000	0.79357	0.533000	0.62120	TCC		0.498	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		4	124	0	0	0	1	0	4	124				
BIRC2	329	broad.mit.edu	37	11	102221141	102221141	+	Missense_Mutation	SNP	G	G	A	rs372507082		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:102221141G>A	ENST00000227758.2	+	2	1955	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	BIRC2_ENST00000532672.1_Missense_Mutation_p.A165T|BIRC2_ENST00000530675.1_Missense_Mutation_p.A137T|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	186					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TACTGAAGAAGCCAGATTTCT	0.413																																						ENST00000227758.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(556-558)Gcc>Acc		baculoviral IAP repeat containing 2		G	THR/ALA	0,4406		0,0,2203	119.0	117.0	118.0		556	5.9	1.0	11		118	1,8597	1.2+/-3.3	0,1,4298	no	missense	BIRC2	NM_001166.3	58	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	186/619	102221141	1,13003	2203	4299	6502	SO:0001583	missense	329				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102221141G>A	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.556G>A	11.37:g.102221141G>A	ENSP00000227758:p.Ala186Thr					BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.A137T|BIRC2_ENST00000532672.1_Missense_Mutation_p.A165T	p.A186T	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)	2	1955	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	186					B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	c.556G>A	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103439	0.94245	0.0	1.16E-4	ENSG00000110330	ENST00000532832;ENST00000530675;ENST00000227758;ENST00000541741;ENST00000532672	T;T;T;T	0.04194	3.68;3.68;3.68;3.68	5.92	5.92	0.95590	Baculoviral inhibition of apoptosis protein repeat (3);	0.090143	0.85682	D	0.000000	T	0.16514	0.0397	M	0.65975	2.015	0.51012	D	0.999904	D	0.56968	0.978	P	0.54499	0.754	T	0.00039	-1.2240	10	0.42905	T	0.14	-10.3301	20.3206	0.98668	0.0:0.0:1.0:0.0	.	186	Q13490	BIRC2_HUMAN	T	28;137;186;186;165	ENSP00000432410:A28T;ENSP00000431723:A137T;ENSP00000227758:A186T;ENSP00000434979:A165T	ENSP00000227758:A186T	A	+	1	0	BIRC2	101726351	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.578000	0.74032	2.809000	0.96659	0.655000	0.94253	GCC		0.413	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		4	108	0	0	0	1	0	4	108				
SRMS	6725	broad.mit.edu	37	20	62178604	62178604	+	Silent	SNP	A	A	G			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr20:62178604A>G	ENST00000217188.1	-	1	253	c.213T>C	c.(211-213)agT>agC	p.S71S		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	71	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGCGGCGGACACTCAGCTCCC	0.697																																						ENST00000217188.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(211-213)agT>agC		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							114.0	118.0	116.0					20																	62178604		2198	4286	6484	SO:0001819	synonymous_variant	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62178604A>G		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.213T>C	20.37:g.62178604A>G							p.S71S	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		1	253	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		71			SH3.			Silent	SNP	ENST00000217188.1	37	c.213T>C	CCDS13525.1																																																																																				0.697	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		7	7	0	0	0	1	0	7	7				
MUC4	4585	broad.mit.edu	37	3	195508343	195508343	+	Missense_Mutation	SNP	A	A	T	rs555793435|rs396680		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr3:195508343A>T	ENST00000463781.3	-	2	10567	c.10108T>A	c.(10108-10110)Tcc>Acc	p.S3370T	MUC4_ENST00000475231.1_Missense_Mutation_p.S3370T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCACCTGTGGAAGCTGAGGAA	0.587																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(10108-10110)Tcc>Acc		mucin 4, cell surface associated							36.0	31.0	33.0					3																	195508343		686	1582	2268	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195508343A>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10108T>A	3.37:g.195508343A>T	ENSP00000417498:p.Ser3370Thr					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S3370T	p.S3370T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	10567	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	147					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.10108T>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	a	3.051	-0.195478	0.06259	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.38401	1.29;1.14	0.423	-0.846	0.10734	.	.	.	.	.	T	0.15046	0.0363	N	0.19112	0.55	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.13818	-1.0495	8	.	.	.	.	4.4467	0.11600	0.3383:0.0:0.6617:0.0	.	3242	E7ESK3	.	T	3370	ENSP00000417498:S3370T;ENSP00000420243:S3370T	.	S	-	1	0	MUC4	196993122	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	-2.391000	0.01057	-0.409000	0.07553	0.076000	0.15429	TCC		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	13	0	0	0	1	0	4	13				
KRT18P55	284085	broad.mit.edu	37	17	26604406	26604406	+	RNA	SNP	C	C	T	rs543832195	byFrequency	TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr17:26604406C>T	ENST00000577198.1	-	0	555				AC061975.8_ENST00000385109.1_RNA	NR_028334.1				keratin 18 pseudogene 55																		CAGGTTTTGACGGCCAATTTT	0.438													c|||	2	0.000399361	0.0008	0.0	5008	,	,		18630	0.001		0.0	False		,,,				2504	0.0					ENST00000577198.1																			0																				52.0	52.0	52.0					17																	26604406		1932	4138	6070			0							g.chr17:26604406C>T			17q11.2	2013-06-25			ENSG00000265480	ENSG00000265480			26874	pseudogene	pseudogene							Standard	NR_028334		Approved		uc002has.3		OTTHUMG00000179422		17.37:g.26604406C>T								NR_028334.1						0	555	-									RNA	SNP	ENST00000577198.1	37																																																																																						0.438	KRT18P55-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446194.1	NR_028334		6	72	0	0	0	1	0	6	72				
TET1	80312	broad.mit.edu	37	10	70451205	70451205	+	Silent	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr10:70451205C>T	ENST00000373644.4	+	12	6254	c.6045C>T	c.(6043-6045)caC>caT	p.H2015H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2015					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CACCTGCTCACGGCTCGGTTT	0.532																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(6043-6045)caC>caT		tet methylcytosine dioxygenase 1							123.0	117.0	119.0					10																	70451205		2203	4300	6503	SO:0001819	synonymous_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70451205C>T	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.6045C>T	10.37:g.70451205C>T							p.H2015H	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			12	6254	+			2015					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	c.6045C>T	CCDS7281.1																																																																																				0.532	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		81	138	0	0	0	1	0	81	138				
ADCY10	55811	broad.mit.edu	37	1	167870982	167870982	+	Silent	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:167870982C>T	ENST00000367851.4	-	5	538	c.354G>A	c.(352-354)gtG>gtA	p.V118V	ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_Silent_p.V26V	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	118	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATTTAATTACCACTGTGATAA	0.498																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(76-78)gtG>gtA		adenylate cyclase 10 (soluble)							169.0	166.0	167.0					1																	167870982		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167870982C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.354G>A	1.37:g.167870982C>T						ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367851.4_Silent_p.V118V	p.V26V			Q96PN6	ADCYA_HUMAN			5	575	-			118					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.78G>A	CCDS1265.1																																																																																				0.498	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		11	221	0	0	0	1	0	11	221				
SLC10A6	345274	broad.mit.edu	37	4	87770048	87770048	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:87770048C>T	ENST00000273905.6	-	1	368	c.221G>A	c.(220-222)tGc>tAc	p.C74Y	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	74					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CCCAAACTGGCAGAGCAGTCC	0.542																																						ENST00000273905.6																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(220-222)tGc>tAc		solute carrier family 10 (sodium/bile acid cotransporter), member 6							73.0	63.0	66.0					4																	87770048		2203	4300	6503	SO:0001583	missense	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87770048C>T	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.221G>A	4.37:g.87770048C>T	ENSP00000273905:p.Cys74Tyr					SLC10A6_ENST00000505535.1_5'UTR	p.C74Y	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	1	368	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	74					Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	c.221G>A	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210805	0.79240	.	.	ENSG00000145283	ENST00000273905	T	0.11277	2.79	5.85	5.01	0.66863	.	0.067487	0.64402	D	0.000008	T	0.36663	0.0975	M	0.83774	2.66	0.42385	D	0.992504	D	0.89917	1.0	D	0.81914	0.995	T	0.37314	-0.9711	10	0.87932	D	0	-17.6765	15.0242	0.71656	0.0:0.8574:0.1426:0.0	.	74	Q3KNW5	SOAT_HUMAN	Y	74	ENSP00000273905:C74Y	ENSP00000273905:C74Y	C	-	2	0	SLC10A6	87989072	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.977000	0.70492	1.452000	0.47756	0.655000	0.94253	TGC		0.542	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	NM_197965		6	34	0	0	0	1	0	6	34				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	35	0	0	0	1	0	4	35				
BMP4	652	broad.mit.edu	37	14	54416985	54416985	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr14:54416985C>T	ENST00000245451.4	-	4	1385	c.992G>A	c.(991-993)gGc>gAc	p.G331D	BMP4_ENST00000417573.1_Missense_Mutation_p.G331D|MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000558984.1_Missense_Mutation_p.G331D|BMP4_ENST00000559087.1_Missense_Mutation_p.G331D	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	331					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GGCCTGGTAGCCTGGTGGGGC	0.572																																						ENST00000245451.4																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						c.(991-993)gGc>gAc		bone morphogenetic protein 4							93.0	75.0	81.0					14																	54416985		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54416985C>T	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.992G>A	14.37:g.54416985C>T	ENSP00000245451:p.Gly331Asp					BMP4_ENST00000417573.1_Missense_Mutation_p.G331D|BMP4_ENST00000558984.1_Missense_Mutation_p.G331D|BMP4_ENST00000559087.1_Missense_Mutation_p.G331D	p.G331D	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN			4	1385	-			331					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.992G>A	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427824	0.83667	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	D;D	0.84442	-1.85;-1.85	5.4	5.4	0.78164	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94755	0.8307	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95667	0.8720	10	0.87932	D	0	.	18.3479	0.90328	0.0:1.0:0.0:0.0	.	331	P12644	BMP4_HUMAN	D	331	ENSP00000245451:G331D;ENSP00000394165:G331D	ENSP00000245451:G331D	G	-	2	0	BMP4	53486735	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.644000	0.83416	2.814000	0.96858	0.563000	0.77884	GGC		0.572	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		9	59	0	0	0	1	0	9	59				
IL18	3606	broad.mit.edu	37	11	112025712	112025712	+	Missense_Mutation	SNP	G	G	A	rs61734549	byFrequency	TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:112025712G>A	ENST00000280357.7	-	2	284	c.65C>T	c.(64-66)aCg>aTg	p.T22M	IL18_ENST00000533858.1_5'UTR|IL18_ENST00000528832.1_Missense_Mutation_p.T22M|IL18_ENST00000524595.1_Missense_Mutation_p.T22M|SDHD_ENST00000532699.1_Intron	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18	22					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|cellular response to organic cyclic compound (GO:0071407)|chemokine biosynthetic process (GO:0042033)|granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0042253)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma biosynthetic process (GO:0042095)|interleukin-13 biosynthetic process (GO:0042231)|interleukin-2 biosynthetic process (GO:0042094)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|natural killer cell activation (GO:0030101)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of tissue remodeling (GO:0034105)|regulation of cell adhesion (GO:0030155)|sleep (GO:0030431)|T-helper 1 type immune response (GO:0042088)|type 2 immune response (GO:0042092)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		AAAGTAAAGCGTATTGTCAAT	0.343													G|||	2	0.000399361	0.0	0.0	5008	,	,		20716	0.0		0.002	False		,,,				2504	0.0					ENST00000280357.7																			0											c.(64-66)aCg>aTg		interleukin 18 (interferon-gamma-inducing factor)		G	MET/THR	0,3692		0,0,1846	131.0	119.0	123.0		65	1.9	0.1	11	dbSNP_129	123	3,8187		0,3,4092	yes	missense	IL18	NM_001562.3	81	0,3,5938	AA,AG,GG		0.0366,0.0,0.0252	probably-damaging	22/194	112025712	3,11879	1846	4095	5941	SO:0001583	missense	3606				angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity	g.chr11:112025712G>A	U90434	CCDS44731.1, CCDS58180.1	11q22.2-q22.3	2014-04-04	2014-04-04		ENSG00000150782	ENSG00000150782		"""Interleukins and interleukin receptors"""	5986	protein-coding gene	gene with protein product	"""interferon-gamma-inducing factor"""	600953	"""interleukin 18 (interferon-gamma-inducing factor)"""			7477296, 9693051	Standard	NM_001562		Approved	IGIF, IL1F4, IL-1g, IL-18	uc001pnb.2	Q14116	OTTHUMG00000167006	ENST00000280357.7:c.65C>T	11.37:g.112025712G>A	ENSP00000280357:p.Thr22Met					IL18_ENST00000524595.1_Missense_Mutation_p.T22M|IL18_ENST00000528832.1_Missense_Mutation_p.T22M|IL18_ENST00000533858.1_5'UTR|SDHD_ENST00000532699.1_Intron	p.T22M	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)	2	284	-		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	22					O75599|Q6FGY3|Q6WWJ7	Missense_Mutation	SNP	ENST00000280357.7	37	c.65C>T	CCDS44731.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	7.864	0.726786	0.15439	0.0	3.66E-4	ENSG00000150782	ENST00000280357;ENST00000524595;ENST00000528832	.	.	.	4.76	1.87	0.25490	.	0.333086	0.25717	N	0.028774	T	0.48607	0.1509	M	0.68952	2.095	0.09310	N	1	D;D	0.76494	0.998;0.999	P;P	0.55011	0.702;0.766	T	0.35076	-0.9803	9	0.46703	T	0.11	-2.5511	6.8127	0.23812	0.2808:0.0:0.7192:0.0	.	22;22	Q6WWJ7;Q14116	.;IL18_HUMAN	M	22	.	ENSP00000280357:T22M	T	-	2	0	IL18	111530922	0.119000	0.22226	0.059000	0.19551	0.014000	0.08584	0.758000	0.26447	0.322000	0.23283	0.491000	0.48974	ACG		0.343	IL18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392409.1	NM_001562		9	30	0	0	0	1	0	9	30				
CCDC136	64753	broad.mit.edu	37	7	128432468	128432468	+	Start_Codon_SNP	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr7:128432468G>A	ENST00000297788.4	+	1	370	c.3G>A	c.(1-3)atG>atA	p.M1I	CCDC136_ENST00000464832.1_Missense_Mutation_p.M51I|CCDC136_ENST00000487361.1_Start_Codon_SNP_p.M1I|CCDC136_ENST00000378685.4_Missense_Mutation_p.M51I	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GACGGGGGATGCAAGCTATGG	0.582																																						ENST00000464832.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(151-153)atG>atA		coiled-coil domain containing 136							94.0	111.0	106.0					7																	128432468		1929	4115	6044	SO:0001582	initiator_codon_variant	64753					integral to membrane	protein binding	g.chr7:128432468G>A		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3G>A	7.37:g.128432468G>A	ENSP00000297788:p.Met1Ile					CCDC136_ENST00000487361.1_Start_Codon_SNP_p.M1I|CCDC136_ENST00000378685.4_Missense_Mutation_p.M51I|CCDC136_ENST00000297788.4_Start_Codon_SNP_p.M1I	p.M51I			Q96JN2	CC136_HUMAN			2	197	+			1			Glu-rich.		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.153G>A	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612217	0.66672	.	.	ENSG00000128596	ENST00000485998;ENST00000459946;ENST00000378685;ENST00000464832;ENST00000472049;ENST00000488925;ENST00000487361;ENST00000297788	T;T;T;T	0.43294	0.96;0.95;0.99;1.49	5.04	4.15	0.48705	.	0.386496	0.25447	N	0.030608	T	0.33030	0.0849	.	.	.	0.21147	N	0.999775	B;P;B	0.38677	0.206;0.642;0.103	B;B;B	0.38458	0.085;0.274;0.085	T	0.33854	-0.9852	9	0.87932	D	0	-1.9024	8.4649	0.32949	0.1021:0.0:0.8979:0.0	.	1;1;51	C9JE17;Q96JN2;Q96JN2-3	.;CC136_HUMAN;.	I	1;1;51;51;1;1;1;1	ENSP00000367956:M51I;ENSP00000419515:M51I;ENSP00000420509:M1I;ENSP00000297788:M1I	ENSP00000297788:M1I	M	+	3	0	CCDC136	128219704	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	1.471000	0.35365	2.729000	0.93468	0.655000	0.94253	ATG		0.582	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742	Missense_Mutation	15	62	0	0	0	1	0	15	62				
KLHL30	377007	broad.mit.edu	37	2	239050040	239050040	+	Silent	SNP	G	G	A			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr2:239050040G>A	ENST00000409223.1	+	2	752	c.645G>A	c.(643-645)ctG>ctA	p.L215L	KLHL30_ENST00000305959.4_Silent_p.L197L			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	215	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCGCCCACCTGCCCGAGCTGC	0.706																																						ENST00000409223.1																			0				lung(4)	4						c.(643-645)ctG>ctA		kelch-like family member 30							6.0	9.0	8.0					2																	239050040		2038	4153	6191	SO:0001819	synonymous_variant	377007							g.chr2:239050040G>A		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.645G>A	2.37:g.239050040G>A						KLHL30_ENST00000305959.4_Silent_p.L197L	p.L215L			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	2	752	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	215			BACK.		Q6ZUS1	Silent	SNP	ENST00000409223.1	37	c.645G>A	CCDS46555.2																																																																																				0.706	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		3	8	0	0	0	1	0	3	8				
KNG1	3827	broad.mit.edu	37	3	186450325	186450325	+	Silent	SNP	C	C	T	rs201943382		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr3:186450325C>T	ENST00000265023.4	+	7	1004	c.792C>T	c.(790-792)tgC>tgT	p.C264C	KNG1_ENST00000287611.2_Silent_p.C264C|KNG1_ENST00000447445.1_Silent_p.C228C|RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	264					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		CCAAGATTTGCGTGGGCTGCC	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		21829	0.0		0.001	False		,,,				2504	0.0					ENST00000265023.4																			0				endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(790-792)tgC>tgT		kininogen 1	Ouabain(DB01092)						100.0	99.0	99.0					3																	186450325		2203	4300	6503	SO:0001819	synonymous_variant	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186450325C>T		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.792C>T	3.37:g.186450325C>T						RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Silent_p.C228C|KNG1_ENST00000287611.2_Silent_p.C264C	p.C264C	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	7	1004	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		264			Cystatin 3.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Silent	SNP	ENST00000265023.4	37	c.792C>T	CCDS43183.1																																																																																				0.488	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		4	144	0	0	0	1	0	4	144				
WDR26	80232	broad.mit.edu	37	1	224621758	224621760	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:224621758_224621760delCCG	ENST00000414423.2	-	1	241_243	c.48_50delCGG	c.(46-51)ggcggt>ggt	p.16_17GG>G	WDR26_ENST00000295024.6_5'UTR|WDR26_ENST00000366852.2_In_Frame_Del_p.16_17GG>G	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	16						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		tcctcctccaccgccgccgccgc	0.729																																						ENST00000414423.2																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18						c.(46-51)ggt>gg		WD repeat domain 26			,	4,1078		1,2,538					,	-5.8	0.8			3	22,2590		9,4,1293	no	coding,coding	WDR26	NM_025160.6,NM_001115113.2	,	10,6,1831	A1A1,A1R,RR		0.8423,0.3697,0.7038	,	,		26,3668				SO:0001651	inframe_deletion	80232					cytoplasm|nucleus		g.chr1:224621758_224621760delCCG	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.48_50delCGG	1.37:g.224621767_224621769delCCG	ENSP00000408108:p.Gly25del					WDR26_ENST00000366852.2_In_Frame_Del_p.GG24del|WDR26_ENST00000295024.6_5'UTR	p.GG24del	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	1	241_243	-			24					A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	In_Frame_Del	DEL	ENST00000414423.2	37	c.48_50delCGG	CCDS31037.2																																																																																				0.729	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		2	4						2	4	---	---	---	---
VPS37C	55048	broad.mit.edu	37	11	60899568	60899569	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:60899568_60899569delCC	ENST00000301765.5	-	5	1023_1024	c.791_792delGG	c.(790-792)aggfs	p.R264fs		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	264	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GTGGCATGCTCCTCTGTGGGGA	0.693																																						ENST00000301765.5																			0				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(790-792)afs		vacuolar protein sorting 37 homolog C (S. cerevisiae)																																				SO:0001589	frameshift_variant	55048				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr11:60899568_60899569delCC	AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"""vacuolar protein sorting 37C (yeast)"""			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.791_792delGG	11.37:g.60899568_60899569delCC	ENSP00000301765:p.Arg264fs						p.R264fs	NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN			5	1023_1024	-			264			Pro-rich.		Q8N3K4	Frame_Shift_Del	DEL	ENST00000301765.5	37	c.791_792delGG	CCDS31573.1																																																																																				0.693	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1	NM_017966		2	4						2	4	---	---	---	---
DGKH	160851	broad.mit.edu	37	13	42783569	42783569	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr13:42783569delA	ENST00000337343.4	+	23	2839	c.2818delA	c.(2818-2820)aaafs	p.K940fs	DGKH_ENST00000540693.1_Frame_Shift_Del_p.K940fs|DGKH_ENST00000538674.1_Frame_Shift_Del_p.K695fs|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Frame_Shift_Del_p.K804fs|DGKH_ENST00000261491.5_Frame_Shift_Del_p.K940fs|DGKH_ENST00000379274.2_Frame_Shift_Del_p.K804fs	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	940					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AATTGTGCACAAAAACAGAGC	0.378																																						ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2410-2412)aafs		diacylglycerol kinase, eta							87.0	80.0	82.0					13																	42783569		2203	4300	6503	SO:0001589	frameshift_variant	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42783569delA	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2818delA	13.37:g.42783569delA	ENSP00000337572:p.Lys940fs					DGKH_ENST00000536612.1_Frame_Shift_Del_p.K804fs|DGKH_ENST00000540693.1_Frame_Shift_Del_p.K940fs|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000261491.4_Frame_Shift_Del_p.K940fs|DGKH_ENST00000337343.4_Frame_Shift_Del_p.K940fs|DGKH_ENST00000538674.1_Frame_Shift_Del_p.K695fs	p.K804fs			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	23	2839	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	940					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Frame_Shift_Del	DEL	ENST00000337343.4	37	c.2410delA	CCDS9381.1																																																																																				0.378	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		40	50						40	50	---	---	---	---
ZIC5	85416	broad.mit.edu	37	13	100623411	100623413	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr13:100623411_100623413delAGG	ENST00000267294.4	-	1	750_752	c.517_519delCCT	c.(517-519)cctdel	p.P173del		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	173	Pro-rich.				cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCGAGAGGGCaggaggaggagga	0.744																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(517-519)del		Zic family member 5				11,3059		1,9,1525						1.6	1.0			3	27,6387		4,19,3184	no	coding	ZIC5	NM_033132.3		5,28,4709	A1A1,A1R,RR		0.421,0.3583,0.4007				38,9446				SO:0001651	inframe_deletion	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100623411_100623413delAGG	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.517_519delCCT	13.37:g.100623420_100623422delAGG	ENSP00000267294:p.Pro173del						p.P173del	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			1	750_752	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		173			Pro-rich.		Q5VYB0	In_Frame_Del	DEL	ENST00000267294.4	37	c.517_519delCCT	CCDS9494.2																																																																																				0.744	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		2	4						2	4	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72994030	72994031	+	Frame_Shift_Ins	INS	-	-	TCACAGCC	rs12922701		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr16:72994030_72994031insTCACAGCC	ENST00000268489.5	-	2	686_687	c.14_15insGGCTGTGA	c.(13-15)gacfs	p.D5fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	5					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGACGGGCGAGTCACAGCCTTC	0.609																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(13-15)gtcfs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72994030_72994031insTCACAGCC	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7_14dupGGCTGTGA	16.37:g.72994031_72994038dupTCACAGCC	ENSP00000268489:p.Asp5fs					ZFHX3_ENST00000397992.5_Intron	p.V5fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	686_687	-		Ovarian(137;0.13)	5					D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	ENST00000268489.5	37	c.14_15insGGCTGTGA	CCDS10908.1																																																																																				0.609	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		21	167						21	167	---	---	---	---
RPS5	6193	broad.mit.edu	37	19	58907569	58907571	+	IGR	DEL	AGG	AGG	-			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:58907569_58907571delAGG	ENST00000596046.1	+	0	1520				AC012313.1_ENST00000601382.1_In_Frame_Del_p.E45del			P46782	RS5_HUMAN	ribosomal protein S5						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		GGGGAAGACCaggaggaggagga	0.724																																						ENST00000601382.1																			0											c.(112-117)cag>c																																						SO:0001628	intergenic_variant	0							g.chr19:58907569_58907571delAGG	U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"""S ribosomal proteins"""	10426	protein-coding gene	gene with protein product	"""40S ribosomal protein S5"""	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782			19.37:g.58907578_58907580delAGG							p.38del	NM_001195135.1	NP_001182064.1					1	113_115	+								B2R4T2|Q96BN0	In_Frame_Del	DEL	ENST00000596046.1	37	c.113_115delAGG	CCDS12978.1																																																																																				0.724	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467016.1	NM_001009		2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76855040	76855046	+	Frame_Shift_Del	DEL	TTTCTTC	TTTCTTC	-			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chrX:76855040_76855046delTTTCTTC	ENST00000373344.5	-	25	6004_6010	c.5790_5796delGAAGAAA	c.(5788-5796)aagaagaaafs	p.KKK1930fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KKK1892fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1930	Poly-Lys.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTTCCCTTTTTTCTTCTTTCTaaaaa	0.353			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5788-5796)aafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76855040_76855046delTTTCTTC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5790_5796delGAAGAAA	X.37:g.76855040_76855046delTTTCTTC	ENSP00000362441:p.Lys1930fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KKK1892fs	p.KKK1930fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			25	6004_6010	-			1930			Poly-Lys.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.5790_5796delGAAGAAA	CCDS14434.1																																																																																				0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		63	73						63	73	---	---	---	---
