#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
SLC13A1	6561	broad.mit.edu	37	7	122821049	122821049	+	Missense_Mutation	SNP	A	A	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr7:122821049A>T	ENST00000194130.2	-	2	245	c.206T>A	c.(205-207)tTt>tAt	p.F69Y	SLC13A1_ENST00000539873.1_Missense_Mutation_p.F5Y	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	69					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CATGATCCCAAACATGGGTAA	0.398																																						uc003vkm.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(205-207)tTt>tAt		Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	Succinic acid(DB00139)						117.0	103.0	108.0					7																	122821049		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122821049A>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.206T>A	7.37:g.122821049A>T	ENSP00000194130:p.Phe69Tyr					SLC13A1_uc010lks.3_5'UTR	p.F69Y	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN			1	231	-			69					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.206T>A	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.267741	0.59540	.	.	ENSG00000081800	ENST00000194130;ENST00000539873	T;T	0.26957	4.15;1.7	6.16	5.0	0.66597	.	0.091920	0.85682	N	0.000000	T	0.38427	0.1040	M	0.87900	2.915	0.48696	D	0.999694	B	0.31241	0.315	B	0.35312	0.2	T	0.29150	-1.0021	10	0.54805	T	0.06	.	12.1431	0.54008	0.8717:0.0:0.0:0.1283	.	69	Q9BZW2	S13A1_HUMAN	Y	69;5	ENSP00000194130:F69Y;ENSP00000441309:F5Y	ENSP00000194130:F69Y	F	-	2	0	SLC13A1	122608285	1.000000	0.71417	0.925000	0.36789	0.795000	0.44927	6.893000	0.75649	1.117000	0.41842	0.528000	0.53228	TTT		0.398	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		33	32	0	0	0	1	0	33	32				
TRPM4	54795	broad.mit.edu	37	19	49693561	49693561	+	Missense_Mutation	SNP	C	C	T	rs199552085		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:49693561C>T	ENST00000252826.5	+	15	2242	c.2116C>T	c.(2116-2118)Cgc>Tgc	p.R706C	TRPM4_ENST00000427978.2_Missense_Mutation_p.R706C|TRPM4_ENST00000355712.5_Missense_Mutation_p.R352C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	706					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CATCTACACCCGCCTCATCAC	0.597													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17395	0.0		0.0	False		,,,				2504	0.0					uc002pmw.3																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(2116-2118)Cgc>Tgc		Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.							195.0	171.0	179.0					19																	49693561		2203	4300	6503	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49693561C>T	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2116C>T	19.37:g.49693561C>T	ENSP00000252826:p.Arg706Cys					TRPM4_uc010emu.3_Missense_Mutation_p.R706C|TRPM4_uc010yak.2_Missense_Mutation_p.R170C|TRPM4_uc002pmx.3_Missense_Mutation_p.R532C|TRPM4_uc010emv.3_Missense_Mutation_p.R591C|TRPM4_uc010yal.2_Missense_Mutation_p.R352C|TRPM4_uc002pmy.3_Missense_Mutation_p.R48C	p.R706C	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	14	2224	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	706					A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.2116C>T	CCDS33073.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	13.77	2.336673	0.41398	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.71817	-0.6;-0.6;-0.6	4.99	-4.94	0.03057	.	0.946651	0.08919	N	0.874738	T	0.54013	0.1832	N	0.24115	0.695	0.26849	N	0.968209	D;D;D;D	0.55172	0.97;0.969;0.969;0.958	B;P;B;B	0.44732	0.27;0.459;0.34;0.431	T	0.55679	-0.8103	10	0.72032	D	0.01	-10.0993	7.8817	0.29627	0.3287:0.2364:0.4349:0.0	.	352;532;706;706	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	C	706;706;352	ENSP00000252826:R706C;ENSP00000407492:R706C;ENSP00000347944:R352C	ENSP00000252826:R706C	R	+	1	0	TRPM4	54385373	0.048000	0.20356	0.854000	0.33618	0.219000	0.24729	0.051000	0.14141	-0.914000	0.03827	-0.812000	0.03155	CGC		0.597	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		9	212	0	0	0	1	0	9	212				
KMT2A	4297	broad.mit.edu	37	11	118377159	118377160	+	Missense_Mutation	DNP	TC	TC	GT			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:118377159_118377160TC>GT	ENST00000389506.5	+	27	10543_10544	c.10543_10544TC>GT	c.(10543-10545)TCt>GTt	p.S3515V	KMT2A_ENST00000534358.1_Missense_Mutation_p.S3518V|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3477V			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3515					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCCTGGGGGTTCTCCATCCTCT	0.55																																						uc001ptb.3										"""T, O"""					"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""		"""AML, ALL"""		0				breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131						c.(10552-10554)tct>GTt		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA.																																				SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118377159_118377160TC>GT	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	Exception_encountered	11.37:g.118377159_118377160delinsGT	ENSP00000374157:p.Ser3515Val					MLL_uc001pta.3_Missense_Mutation_p.S3515V	p.S3518V	NM_001197104	NP_001184033	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	26	10575_10576	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	3515					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	DNP	ENST00000389506.5	37	c.10552_10553TC>GT	CCDS31686.1																																																																																				0.550	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		58	79	0	0	0	1	0	58	79				
DLEC1	9940	broad.mit.edu	37	3	38087109	38087109	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr3:38087109G>C	ENST00000308059.6	+	2	508	c.487G>C	c.(487-489)Gct>Cct	p.A163P	DLEC1_ENST00000346219.3_Missense_Mutation_p.A163P|DLEC1_ENST00000452631.2_Missense_Mutation_p.A163P					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCAAGCACGGGCTATTGCGGA	0.532																																						uc003chp.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(487-489)Gct>Cct		Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.							71.0	72.0	71.0					3																	38087109		1926	4133	6059	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38087109G>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.487G>C	3.37:g.38087109G>C	ENSP00000308597:p.Ala163Pro					DLEC1_uc003cho.1_Missense_Mutation_p.A163P|DLEC1_uc010hgv.1_Missense_Mutation_p.A163P	p.A163P	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	1	508	+			163						Missense_Mutation	SNP	ENST00000308059.6	37	c.487G>C	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331361	0.41297	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.10573	2.89;2.86;3.12	4.8	2.96	0.34315	.	0.406939	0.26788	N	0.022495	T	0.25494	0.0620	M	0.71036	2.16	0.32744	N	0.507318	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.988;0.993;0.988	T	0.24012	-1.0172	10	0.52906	T	0.07	-12.1907	5.3328	0.15942	0.1027:0.0:0.6958:0.2015	.	163;163;163	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	P	163	ENSP00000308597:A163P;ENSP00000315914:A163P;ENSP00000410427:A163P	ENSP00000308597:A163P	A	+	1	0	DLEC1	38062113	0.994000	0.37717	0.568000	0.28447	0.021000	0.10359	1.122000	0.31295	0.592000	0.29728	0.655000	0.94253	GCT		0.532	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		53	52	0	0	0	1	0	53	52				
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589|rs121434592		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000544168.1_5'Flank			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	Inositol-(1,3,4,5)-tetrakisphosphate binding.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		E -> K (in PROTEUSS and breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; results in increased phosphorylation at T-308 and higher basal ubiquitination; the mutant protein is more efficiently recruited to the plasma membrane; alters phosphatidylinositiol phosphates lipid specificity of the AKT1 PH domain; dbSNP:rs121434592). {ECO:0000269|PubMed:17611497, ECO:0000269|PubMed:21793738}.		activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	uc001ypk.3	E17K(KU1919_URINARY_TRACT)	1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		102	Substitution - Missense(102)	p.E17K(255)	breast(49)|urinary_tract(14)|thyroid(10)|endometrium(10)|lung(7)|large_intestine(4)|prostate(4)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(49-51)Gag>Aag		Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						130.0	93.0	106.0					14																	105246551		2203	4300	6503	SO:0001583	missense	207				G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105246551C>T	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.49G>A	14.37:g.105246551C>T	ENSP00000451828:p.Glu17Lys					AKT1_uc001ypl.3_Missense_Mutation_p.E17K|AKT1_uc010axa.3_Missense_Mutation_p.E17K|AKT1_uc001ypm.3_Missense_Mutation_p.E17K|AKT1_uc001ypn.3_Missense_Mutation_p.E17K|AKT1_uc010tyk.2_5'Flank	p.E17K	NM_005163	NP_005154	P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	2	603	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	17		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	PH.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.49G>A	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458989	0.84317	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17;1.17	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.59838	0.2223	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64411	-0.6414	10	0.72032	D	0.01	.	16.1757	0.81847	0.0:1.0:0.0:0.0	.	17	P31749	AKT1_HUMAN	K	17	ENSP00000451828:E17K;ENSP00000384293:E17K;ENSP00000270202:E17K;ENSP00000385326:E17K;ENSP00000450688:E17K;ENSP00000451166:E17K;ENSP00000451824:E17K	ENSP00000270202:E17K	E	-	1	0	AKT1	104317596	1.000000	0.71417	0.639000	0.29394	0.296000	0.27459	7.347000	0.79356	2.395000	0.81488	0.462000	0.41574	GAG		0.612	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		17	33	0	0	0	1	0	17	33				
SPHK2	56848	broad.mit.edu	37	19	49132445	49132445	+	Silent	SNP	T	T	C			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:49132445T>C	ENST00000245222.4	+	7	1746	c.1380T>C	c.(1378-1380)gcT>gcC	p.A460A	SPHK2_ENST00000599748.1_Silent_p.A424A|SPHK2_ENST00000598088.1_Silent_p.A460A|SPHK2_ENST00000600537.1_Silent_p.A401A|SPHK2_ENST00000443164.1_Silent_p.A522A|SPHK2_ENST00000599029.1_Silent_p.A424A|SPHK2_ENST00000340932.3_Silent_p.A422A	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	460					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGGGTGGGGCTGGGGATGCTC	0.687																																						uc002pjw.3																			0		p.P522S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(1564-1566)gcT>gcC		Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA.							41.0	51.0	48.0					19																	49132445		2200	4299	6499	SO:0001819	synonymous_variant	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|Ras GTPase binding|diacylglycerol kinase activity|sphinganine kinase activity	g.chr19:49132445T>C	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1380T>C	19.37:g.49132445T>C						SPHK2_uc010xzt.2_Silent_p.A401A|SPHK2_uc002pjt.3_Silent_p.A254A|SPHK2_uc002pjr.3_Silent_p.A460A|SPHK2_uc002pjs.3_Silent_p.A460A|SPHK2_uc002pju.3_Intron|SPHK2_uc002pjv.3_Silent_p.A424A	p.A522A	NM_001204160	NP_001191089	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	2263	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	460					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	c.1566T>C	CCDS12727.1																																																																																				0.687	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			88	123	0	0	0	1	0	88	123				
FAM122A	116224	broad.mit.edu	37	9	71395286	71395286	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr9:71395286A>G	ENST00000394264.3	+	1	323	c.206A>G	c.(205-207)cAc>cGc	p.H69R	PIP5K1B_ENST00000265382.3_Intron|PIP5K1B_ENST00000541509.1_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	69										endometrium(1)|lung(2)	3						CCGAGCCGCCACGGCCTGCTG	0.657																																						uc004agw.1																			0				endometrium(1)|lung(2)	3						c.(205-207)cAc>cGc		Homo sapiens family with sequence similarity 122A (FAM122A), mRNA.							36.0	42.0	40.0					9																	71395286		2203	4290	6493	SO:0001583	missense	116224							g.chr9:71395286A>G	AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 42"""	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.206A>G	9.37:g.71395286A>G	ENSP00000377807:p.His69Arg					PIP5K1B_uc004agu.3_Intron|PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Intron	p.H69R	NM_138333	NP_612206	Q96E09	F122A_HUMAN			0	323	+			69						Missense_Mutation	SNP	ENST00000394264.3	37	c.206A>G	CCDS6623.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.645583	0.29246	.	.	ENSG00000187866	ENST00000394264	T	0.56275	0.47	4.2	3.04	0.35103	.	0.106321	0.64402	D	0.000003	T	0.44286	0.1286	M	0.64170	1.965	0.33247	D	0.558009	B	0.28636	0.218	B	0.22386	0.039	T	0.53387	-0.8446	10	0.37606	T	0.19	-18.1578	7.8573	0.29489	0.7892:0.2108:0.0:0.0	.	69	Q96E09	F122A_HUMAN	R	69	ENSP00000377807:H69R	ENSP00000377807:H69R	H	+	2	0	FAM122A	70585106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.391000	0.44424	0.929000	0.37192	0.460000	0.39030	CAC		0.657	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052556.1	NM_138333		58	100	0	0	0	1	0	58	100				
MUC6	4588	broad.mit.edu	37	11	1029335	1029335	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:1029335C>G	ENST00000421673.2	-	10	1218	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	390					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACGGCCGCTCCGTGCACACC	0.687																																						uc001lsw.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1168-1170)Gag>Cag		Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.							13.0	15.0	14.0					11																	1029335		2050	4166	6216	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1029335C>G	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1168G>C	11.37:g.1029335C>G	ENSP00000406861:p.Glu390Gln						p.E390Q	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	1219	-		all_cancers(49;3.3e-08)|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;0.229)	390					O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.1168G>C	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030251	0.35797	.	.	ENSG00000184956	ENST00000421673	T	0.65178	-0.14	4.56	2.58	0.30949	von Willebrand factor, type D domain (1);	0.000000	0.31177	U	0.008110	T	0.45276	0.1334	L	0.37697	1.125	0.09310	N	1	B	0.31485	0.325	B	0.28385	0.089	T	0.30937	-0.9961	10	0.41790	T	0.15	.	5.9115	0.19031	0.0:0.6682:0.1582:0.1735	.	390	Q6W4X9	MUC6_HUMAN	Q	390	ENSP00000406861:E390Q	ENSP00000406861:E390Q	E	-	1	0	MUC6	1019335	0.979000	0.34478	0.006000	0.13384	0.034000	0.12701	3.909000	0.56363	0.426000	0.26116	0.313000	0.20887	GAG		0.687	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		9	21	0	0	0	1	0	9	21				
GLTSCR1L	23506	broad.mit.edu	37	6	42830261	42830261	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr6:42830261C>G	ENST00000314073.5	+	12	2539	c.2363C>G	c.(2362-2364)tCt>tGt	p.S788C	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S788C			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	788																	ATCAATCCCTCTGCTGAGATG	0.403																																						uc003osn.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44						c.(2362-2364)tCt>tGt		Homo sapiens KIAA0240 (KIAA0240), mRNA.							168.0	167.0	167.0					6																	42830261		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42830261C>G	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2363C>G	6.37:g.42830261C>G	ENSP00000313933:p.Ser788Cys					KIAA0240_uc011duw.1_Missense_Mutation_p.S788C|KIAA0240_uc003osp.1_Missense_Mutation_p.S788C	p.S788C	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)		11	2514	+	Colorectal(47;0.196)		788					A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.2363C>G	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126115	0.77549	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.64260	-0.09;-0.09	5.27	5.27	0.74061	.	0.182364	0.39615	N	0.001302	T	0.73590	0.3606	M	0.73962	2.25	0.48571	D	0.999677	P	0.51933	0.949	P	0.59948	0.866	T	0.77242	-0.2660	10	0.87932	D	0	-5.4751	18.96	0.92674	0.0:1.0:0.0:0.0	.	788	Q6AI39	K0240_HUMAN	C	788	ENSP00000313933:S788C;ENSP00000377723:S788C	ENSP00000313933:S788C	S	+	2	0	KIAA0240	42938239	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	7.011000	0.76359	2.456000	0.83038	0.449000	0.29647	TCT		0.403	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		12	257	0	0	0	1	0	12	257				
PCSK1	5122	broad.mit.edu	37	5	95728775	95728775	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr5:95728775G>A	ENST00000311106.3	-	14	2429	c.2192C>T	c.(2191-2193)aCt>aTt	p.T731I	PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.T684I|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	731					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GTAAGGTTTAGTGTTATAAAA	0.398																																						uc003kls.2																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(2191-2193)aCt>aTt		Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						148.0	153.0	151.0					5																	95728775		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95728775G>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.2192C>T	5.37:g.95728775G>A	ENSP00000308024:p.Thr731Ile					PCSK1_uc010jbi.2_Missense_Mutation_p.T421I|PCSK1_uc021ybq.1_Missense_Mutation_p.T684I	p.T731I	NM_000439	NP_000430	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	13	2431	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	731					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.2192C>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833999	0.50951	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.67171	-0.09;-0.25	6.03	5.14	0.70334	Prohormone convertase enzyme (1);	0.157985	0.64402	D	0.000016	T	0.58264	0.2110	L	0.29908	0.895	0.33613	D	0.603839	B;B	0.10296	0.003;0.0	B;B	0.12837	0.008;0.005	T	0.65005	-0.6273	10	0.72032	D	0.01	-9.368	16.8498	0.85991	0.0:0.1286:0.8714:0.0	.	684;731	E9PHA1;P29120	.;NEC1_HUMAN	I	731;684	ENSP00000308024:T731I;ENSP00000421600:T684I	ENSP00000308024:T731I	T	-	2	0	PCSK1	95754531	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	3.123000	0.50453	1.518000	0.48934	0.655000	0.94253	ACT		0.398	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		25	292	0	0	0	1	0	25	292				
RYR1	6261	broad.mit.edu	37	19	38976630	38976630	+	Missense_Mutation	SNP	C	C	G	rs377041724		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:38976630C>G	ENST00000359596.3	+	34	5335	c.5335C>G	c.(5335-5337)Ccc>Gcc	p.P1779A	RYR1_ENST00000360985.3_Missense_Mutation_p.P1779A|RYR1_ENST00000355481.4_Missense_Mutation_p.P1779A			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1779	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCATTTCTCGCCCCCCTGTTT	0.682																																						uc002oit.3																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5335-5337)Ccc>Gcc		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						33.0	33.0	33.0					19																	38976630		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976630C>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5335C>G	19.37:g.38976630C>G	ENSP00000352608:p.Pro1779Ala					RYR1_uc002oiu.3_Missense_Mutation_p.P1779A	p.P1779A	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		33	5465	+	all_cancers(60;7.91e-06)		1779			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5335C>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	2.057	-0.416317	0.04766	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.72051	-0.62;-0.62;-0.62	3.62	-1.2	0.09554	.	0.274240	0.28772	U	0.014186	T	0.53578	0.1805	L	0.54323	1.7	0.09310	N	1	P;B	0.37548	0.599;0.157	B;B	0.36030	0.216;0.053	T	0.50432	-0.8829	10	0.12103	T	0.63	.	4.3825	0.11300	0.1037:0.4142:0.329:0.153	.	1779;1779	P21817-2;P21817	.;RYR1_HUMAN	A	1779	ENSP00000352608:P1779A;ENSP00000347667:P1779A;ENSP00000354254:P1779A	ENSP00000347667:P1779A	P	+	1	0	RYR1	43668470	0.000000	0.05858	0.003000	0.11579	0.107000	0.19398	-0.616000	0.05591	-0.717000	0.04955	-2.574000	0.00170	CCC		0.682	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			54	71	0	0	0	1	0	54	71				
INTS10	55174	broad.mit.edu	37	8	19677984	19677984	+	Missense_Mutation	SNP	G	G	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr8:19677984G>T	ENST00000397977.3	+	4	794	c.396G>T	c.(394-396)ttG>ttT	p.L132F	INTS10_ENST00000521758.1_Intron	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	132	Poly-Leu.				snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CAGAAATGTTGCTTCTACTTT	0.423																																						uc022asn.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(394-396)ttG>ttT		Homo sapiens integrator complex subunit 10 (INTS10), mRNA.							131.0	124.0	126.0					8																	19677984		1919	4125	6044	SO:0001583	missense	55174				snRNA processing	integrator complex	protein binding	g.chr8:19677984G>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.396G>T	8.37:g.19677984G>T	ENSP00000381064:p.Leu132Phe					INTS10_uc003wzj.3_Missense_Mutation_p.L132F	p.L132F	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	3	527	+			132			Poly-Leu.		Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	ENST00000397977.3	37	c.396G>T	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268806	0.80469	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.86	2.62	0.31277	.	0.000000	0.85682	D	0.000000	T	0.67599	0.2910	L	0.55481	1.735	0.50467	D	0.999874	D	0.76494	0.999	D	0.83275	0.996	T	0.67421	-0.5675	9	0.66056	D	0.02	-17.9758	9.2686	0.37657	0.1559:0.1261:0.718:0.0	.	132	Q9NVR2	INT10_HUMAN	F	132	.	ENSP00000381064:L132F	L	+	3	2	INTS10	19722264	1.000000	0.71417	0.871000	0.34182	0.929000	0.56500	1.257000	0.32932	0.794000	0.33899	0.655000	0.94253	TTG		0.423	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		39	78	0	0	0	1	0	39	78				
RTTN	25914	broad.mit.edu	37	18	67673627	67673627	+	Missense_Mutation	SNP	T	T	C			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr18:67673627T>C	ENST00000255674.6	-	47	6801	c.6515A>G	c.(6514-6516)aAt>aGt	p.N2172S	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2172					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTTCTGATAATTGTAAATCAG	0.398																																						uc002lkp.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(6514-6516)aAt>aGt		Homo sapiens rotatin (RTTN), mRNA.							72.0	67.0	69.0					18																	67673627		1813	4081	5894	SO:0001583	missense	25914						binding	g.chr18:67673627T>C	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6515A>G	18.37:g.67673627T>C	ENSP00000255674:p.Asn2172Ser					RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Missense_Mutation_p.N1260S|RTTN_uc002lkn.2_Missense_Mutation_p.N162S|RTTN_uc010dqp.2_Missense_Mutation_p.N424S	p.N2172S	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			46	6583	-		Esophageal squamous(42;0.129)	2172					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.6515A>G	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624700	0.66901	.	.	ENSG00000176225	ENST00000255674	T	0.49139	0.79	5.1	5.1	0.69264	Armadillo-like helical (1);Armadillo-type fold (1);	0.131349	0.48767	D	0.000180	T	0.59074	0.2167	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61676	-0.7014	10	0.72032	D	0.01	.	9.4125	0.38500	0.0:0.0812:0.0:0.9188	.	2172	Q86VV8	RTTN_HUMAN	S	2172	ENSP00000255674:N2172S	ENSP00000255674:N2172S	N	-	2	0	RTTN	65824607	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	3.167000	0.50793	2.053000	0.61076	0.477000	0.44152	AAT		0.398	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		48	48	0	0	0	1	0	48	48				
NUTM1	256646	broad.mit.edu	37	15	34649404	34649404	+	Silent	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr15:34649404C>T	ENST00000333756.4	+	7	3266	c.3111C>T	c.(3109-3111)ctC>ctT	p.L1037L	NUTM1_ENST00000438749.3_Silent_p.L1055L|NUTM1_ENST00000537011.1_Silent_p.L1065L	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	1037						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGCATCCCCTCAGTCCTCACC	0.532																																						uc010ucc.2										T					"""BRD3, BRD4"""		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				large_intestine(2)|ovary(3)|skin(2)	7						c.(3193-3195)ctC>ctT		Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.							81.0	68.0	72.0					15																	34649404		2201	4298	6499	SO:0001819	synonymous_variant	256646					cytoplasm|nucleus		g.chr15:34649404C>T	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.3111C>T	15.37:g.34649404C>T						C15orf55_uc010ucd.2_Silent_p.L1055L|C15orf55_uc001zif.3_Silent_p.L1037L	p.L1065L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	7	3577	+		all_lung(180;2.78e-08)	1037					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.3195C>T	CCDS32190.1																																																																																				0.532	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		48	64	0	0	0	1	0	48	64				
GAS2L3	283431	broad.mit.edu	37	12	101017896	101017896	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr12:101017896C>T	ENST00000539410.1	+	9	1699	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	GAS2L3_ENST00000537247.1_Missense_Mutation_p.S334F|GAS2L3_ENST00000266754.5_Missense_Mutation_p.S438F|GAS2L3_ENST00000547754.1_Missense_Mutation_p.S438F			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	438					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTATTTCATCCCCCAATACC	0.433																																						uc001thu.3																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1312-1314)tCc>tTc		Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA.							91.0	93.0	93.0					12																	101017896		2203	4300	6503	SO:0001583	missense	283431				cell cycle arrest			g.chr12:101017896C>T	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.1313C>T	12.37:g.101017896C>T	ENSP00000439672:p.Ser438Phe					GAS2L3_uc009zty.3_Missense_Mutation_p.S438F|GAS2L3_uc001thv.3_Missense_Mutation_p.S334F	p.S438F	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN			9	1539	+			438					B2RCN2	Missense_Mutation	SNP	ENST00000539410.1	37	c.1313C>T	CCDS9079.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.618162	0.46736	.	.	ENSG00000139354	ENST00000266754;ENST00000547754;ENST00000537247;ENST00000539410	T;T;T;T	0.26223	1.77;1.77;1.75;1.77	5.84	4.73	0.59995	.	0.273190	0.30177	N	0.010225	T	0.22282	0.0537	L	0.39633	1.23	0.20403	N	0.999905	B	0.20887	0.049	B	0.19666	0.026	T	0.13308	-1.0514	10	0.37606	T	0.19	-6.4392	12.2631	0.54661	0.0:0.8971:0.0:0.1029	.	438	Q86XJ1	GA2L3_HUMAN	F	438;438;334;438	ENSP00000266754:S438F;ENSP00000448955:S438F;ENSP00000442406:S334F;ENSP00000439672:S438F	ENSP00000266754:S438F	S	+	2	0	GAS2L3	99542027	0.111000	0.22076	0.025000	0.17156	0.450000	0.32258	2.701000	0.47094	1.128000	0.42052	0.650000	0.86243	TCC		0.433	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		9	207	0	0	0	1	0	9	207				
EVC	2121	broad.mit.edu	37	4	5755545	5755545	+	Missense_Mutation	SNP	C	C	A			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr4:5755545C>A	ENST00000264956.6	+	10	1533	c.1349C>A	c.(1348-1350)gCg>gAg	p.A450E	EVC_ENST00000382674.2_Missense_Mutation_p.A450E|EVC_ENST00000509451.1_Missense_Mutation_p.A450E	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	450					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CTGGTCACGGCGTCTCTGGCT	0.582																																						uc003gil.1																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1348-1350)gCg>gAg		Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.							104.0	102.0	102.0					4																	5755545		2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5755545C>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1349C>A	4.37:g.5755545C>A	ENSP00000264956:p.Ala450Glu					EVC_uc003gim.1_Non-coding_Transcript	p.A450E	NM_153717	NP_714928	P57679	EVC_HUMAN			9	1533	+		Myeloproliferative disorder(84;0.117)	450						Missense_Mutation	SNP	ENST00000264956.6	37	c.1349C>A	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	1.736	-0.492957	0.04322	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.48836	0.8;0.8;0.87	5.04	1.06	0.20224	.	0.507102	0.19949	N	0.102479	T	0.31918	0.0812	L	0.60455	1.87	0.19575	N	0.999962	B	0.23735	0.09	B	0.21151	0.033	T	0.32534	-0.9903	10	0.02654	T	1	.	4.4668	0.11692	0.4162:0.4124:0.0:0.1715	.	450	P57679	EVC_HUMAN	E	450	ENSP00000264956:A450E;ENSP00000372120:A450E;ENSP00000426774:A450E	ENSP00000264956:A450E	A	+	2	0	EVC	5806446	0.030000	0.19436	0.004000	0.12327	0.327000	0.28475	0.658000	0.24979	0.159000	0.19401	-1.157000	0.01802	GCG		0.582	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			68	87	0	0	0	1	0	68	87				
POGLUT1	56983	broad.mit.edu	37	3	119210390	119210390	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr3:119210390A>G	ENST00000295588.4	+	10	1075	c.991A>G	c.(991-993)Aat>Gat	p.N331D		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	331					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TGTAAAAGCAAATGATGATGT	0.348																																						uc003ecm.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						c.(991-993)Aat>Gat		Homo sapiens protein O-glucosyltransferase 1 (POGLUT1), transcript variant 1, mRNA.							187.0	177.0	181.0					3																	119210390		2203	4300	6503	SO:0001583	missense	56983					endoplasmic reticulum lumen	UDP-glucosyltransferase activity	g.chr3:119210390A>G	BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.991A>G	3.37:g.119210390A>G	ENSP00000295588:p.Asn331Asp					POGLUT1_uc011bja.2_Missense_Mutation_p.N172D	p.N331D	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN			9	1075	+			331					B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	ENST00000295588.4	37	c.991A>G	CCDS2988.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.586141	0.86851	.	.	ENSG00000163389	ENST00000295588	T	0.24538	1.85	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	M	0.82716	2.605	0.58432	D	0.999999	D	0.76494	0.999	D	0.79108	0.992	T	0.53767	-0.8392	10	0.42905	T	0.14	-27.2785	11.909	0.52729	1.0:0.0:0.0:0.0	.	331	Q8NBL1	PGLT1_HUMAN	D	331	ENSP00000295588:N331D	ENSP00000295588:N331D	N	+	1	0	POGLUT1	120693080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.233000	0.78125	2.304000	0.77564	0.528000	0.53228	AAT		0.348	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		11	22	0	0	0	1	0	11	22				
ZNF337	26152	broad.mit.edu	37	20	25656710	25656710	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr20:25656710A>G	ENST00000376436.1	-	4	1753	c.1214T>C	c.(1213-1215)gTg>gCg	p.V405A	RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.V373A|RP4-694B14.5_ENST00000421829.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.V405A|RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000481610.1_5'Flank			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	405					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(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATCCTTGCACACAAAAGGCTT	0.488																																						uc002wva.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1213-1215)gTg>gCg		Homo sapiens zinc finger protein 337 (ZNF337), mRNA.							119.0	104.0	109.0					20																	25656710		2203	4300	6503	SO:0001583	missense	26152							g.chr20:25656710A>G		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1214T>C	20.37:g.25656710A>G	ENSP00000365619:p.Val405Ala					ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Missense_Mutation_p.V373A|ZNF337_uc002wvc.3_Missense_Mutation_p.V405A	p.V405A	NM_015655	NP_056470					3	1736	-								B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.1214T>C	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	14.81	2.647161	0.47258	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.18174	2.23;2.23;2.23	1.11	-0.201	0.13212	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09555	0.0235	N	0.25380	0.74	0.09310	N	1	B;B	0.28026	0.198;0.198	B;B	0.22152	0.027;0.038	T	0.30238	-0.9985	9	0.38643	T	0.18	.	4.3723	0.11253	0.7055:0.0:0.0:0.2945	.	373;405	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	A	405;405;405;373	ENSP00000365619:V405A;ENSP00000252979:V405A;ENSP00000442181:V373A	ENSP00000252979:V405A	V	-	2	0	ZNF337	25604710	0.000000	0.05858	0.005000	0.12908	0.922000	0.55478	-2.761000	0.00786	-0.093000	0.12396	0.254000	0.18369	GTG		0.488	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			48	70	0	0	0	1	0	48	70				
PDHX	8050	broad.mit.edu	37	11	34938261	34938261	+	Missense_Mutation	SNP	T	T	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:34938261T>G	ENST00000227868.4	+	1	143	c.59T>G	c.(58-60)tTc>tGc	p.F20C	APIP_ENST00000278359.5_5'Flank|PDHX_ENST00000430469.2_Missense_Mutation_p.F20C|APIP_ENST00000395787.3_5'Flank|PDHX_ENST00000448838.3_Intron|APIP_ENST00000527830.1_5'Flank			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	20					cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CTTGTGGGCTTCCCCGGCCGC	0.642																																						uc001mvt.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16						c.(58-60)tTc>tGc		Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							33.0	38.0	36.0					11																	34938261		2202	4298	6500	SO:0001583	missense	8050				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity	g.chr11:34938261T>G	U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.59T>G	11.37:g.34938261T>G	ENSP00000227868:p.Phe20Cys					PDHX_uc010rep.2_Intron|PDHX_uc010req.2_Missense_Mutation_p.F20C|APIP_uc010reo.1_5'Flank|APIP_uc001mvs.2_5'Flank	p.F20C	NM_003477	NP_003468	O00330	ODPX_HUMAN	STAD - Stomach adenocarcinoma(6;0.00113)		0	585	+	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	20					B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	ENST00000227868.4	37	c.59T>G	CCDS7896.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983793	0.53827	.	.	ENSG00000110435	ENST00000227868;ENST00000430469;ENST00000533262	T;T;T	0.38722	1.94;1.12;1.82	5.26	2.91	0.33838	.	0.398394	0.25503	N	0.030234	T	0.27454	0.0674	.	.	.	0.09310	N	1	P;P	0.51653	0.876;0.947	B;B	0.40101	0.319;0.319	T	0.12811	-1.0533	9	0.41790	T	0.15	-1.8589	5.7665	0.18229	0.0:0.2142:0.0:0.7858	.	20;20	E9PBP7;O00330	.;ODPX_HUMAN	C	20	ENSP00000227868:F20C;ENSP00000415695:F20C;ENSP00000432277:F20C	ENSP00000227868:F20C	F	+	2	0	PDHX	34894837	0.772000	0.28567	0.002000	0.10522	0.008000	0.06430	1.217000	0.32455	1.012000	0.39366	0.459000	0.35465	TTC		0.642	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390017.1	NM_003477		22	31	0	0	0	1	0	22	31				
DNMT1	1786	broad.mit.edu	37	19	10262175	10262175	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr19:10262175C>T	ENST00000340748.4	-	23	2351	c.2116G>A	c.(2116-2118)Gat>Aat	p.D706N	DNMT1_ENST00000540357.1_Missense_Mutation_p.D706N|DNMT1_ENST00000359526.4_Missense_Mutation_p.D722N			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	706	Autoinhibitory linker.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	ATGTTATCATCGACTTCCTCA	0.488																																						uc010xlc.2																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2164-2166)Gat>Aat		Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 1, mRNA.	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						249.0	208.0	222.0					19																	10262175		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10262175C>T	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2116G>A	19.37:g.10262175C>T	ENSP00000345739:p.Asp706Asn					DNMT1_uc002mng.3_Missense_Mutation_p.D706N|DNMT1_uc002mnh.3_Missense_Mutation_p.D601N|DNMT1_uc010xld.2_Missense_Mutation_p.D706N	p.D722N	NM_001130823	NP_001124295	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		23	2344	-			706					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.2164G>A	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228213	0.79576	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.27402	1.81;1.67;1.67	5.75	5.75	0.90469	.	0.151185	0.64402	D	0.000018	T	0.39410	0.1077	L	0.59436	1.845	0.80722	D	1	P;P;P	0.48230	0.907;0.703;0.85	P;B;B	0.46299	0.511;0.202;0.313	T	0.05632	-1.0873	10	0.31617	T	0.26	.	18.7107	0.91655	0.0:1.0:0.0:0.0	.	706;722;706	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	N	722;706;706;574	ENSP00000352516:D722N;ENSP00000440457:D706N;ENSP00000345739:D706N	ENSP00000345739:D706N	D	-	1	0	DNMT1	10123175	1.000000	0.71417	0.386000	0.26170	0.987000	0.75469	7.568000	0.82369	2.713000	0.92767	0.655000	0.94253	GAT		0.488	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		27	248	0	0	0	1	0	27	248				
HCN1	348980	broad.mit.edu	37	5	45262720	45262720	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr5:45262720C>T	ENST00000303230.4	-	8	2033	c.1976G>A	c.(1975-1977)cGc>cAc	p.R659H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	659					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R659L(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTCCTCATGCGGGAGGTCGG	0.567																																						uc003jok.3																			2	Substitution - Missense(2)	p.R659L(4)|p.R659S(1)|p.S658S(1)	lung(2)	NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1975-1977)cGc>cAc		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							171.0	165.0	167.0					5																	45262720		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262720C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1976G>A	5.37:g.45262720C>T	ENSP00000307342:p.Arg659His						p.R659H	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	2001	-			659						Missense_Mutation	SNP	ENST00000303230.4	37	c.1976G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	0.072	-1.201204	0.01581	.	.	ENSG00000164588	ENST00000303230	T	0.75704	-0.96	5.52	4.65	0.58169	.	0.000000	0.52532	D	0.000078	T	0.63792	0.2541	L	0.44542	1.39	0.40974	D	0.98472	B	0.18968	0.032	B	0.12156	0.007	T	0.58165	-0.7684	10	0.08837	T	0.75	.	13.4624	0.61235	0.0:0.9252:0.0:0.0748	.	659	O60741	HCN1_HUMAN	H	659	ENSP00000307342:R659H	ENSP00000307342:R659H	R	-	2	0	HCN1	45298477	0.813000	0.29090	0.260000	0.24451	0.060000	0.15804	3.283000	0.51701	1.339000	0.45563	-0.140000	0.14226	CGC		0.567	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		62	67	0	0	0	1	0	62	67				
RER1	11079	broad.mit.edu	37	1	2334476	2334476	+	Silent	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr1:2334476C>T	ENST00000605895.1	+	7	637	c.504C>T	c.(502-504)caC>caT	p.H168H	RER1_ENST00000488353.1_Silent_p.H168H|RER1_ENST00000378512.1_3'UTR|RER1_ENST00000378513.3_3'UTR	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	168				HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940). {ECO:0000305}.	positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)	cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		CTCCCCAGCACATGATTAAGT	0.542																																						uc001aje.2																			0				endometrium(3)|kidney(1)	4						c.(502-504)caC>caT		Homo sapiens RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae) (RER1), mRNA.							125.0	121.0	122.0					1																	2334476		2033	4192	6225	SO:0001819	synonymous_variant	11079				retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane		g.chr1:2334476C>T	AF157324	CCDS41232.1	1p36	2013-10-18	2013-10-18		ENSG00000157916	ENSG00000157916			30309	protein-coding gene	gene with protein product			"""RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)"""			9309388, 17668005	Standard	NM_007033		Approved		uc001aje.2	O15258	OTTHUMG00000001403	ENST00000605895.1:c.504C>T	1.37:g.2334476C>T						RER1_uc001ajf.2_3'UTR	p.H168H	NM_007033	NP_008964	O15258	RER1_HUMAN		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)	6	695	+	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	168	HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940).				O95322	Silent	SNP	ENST00000605895.1	37	c.504C>T	CCDS41232.1																																																																																				0.542	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004061.2			48	101	0	0	0	1	0	48	101				
MCHR1	2847	broad.mit.edu	37	22	41077325	41077325	+	Missense_Mutation	SNP	C	C	A	rs201808043		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr22:41077325C>A	ENST00000249016.4	+	2	1358	c.662C>A	c.(661-663)aCg>aAg	p.T221K	MCHR1_ENST00000381433.2_Intron|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	221					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						ATCTCTTCCACGAAGTTCCGG	0.587																																						uc003ayz.3																			0		p.T221T(1)		endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(661-663)aCg>aAg		Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.							156.0	132.0	140.0					22																	41077325		2203	4300	6503	SO:0001583	missense	2847				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077325C>A		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.662C>A	22.37:g.41077325C>A	ENSP00000249016:p.Thr221Lys					MCHR1_uc003aza.3_Missense_Mutation_p.T110K	p.T221K	NM_005297	NP_005288	Q99705	MCHR1_HUMAN			1	930	+			221					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.662C>A	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.504731	0.44558	.	.	ENSG00000128285	ENST00000249016	T	0.70749	-0.51	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.089884	0.85682	D	0.000000	T	0.50120	0.1597	N	0.11364	0.135	0.80722	D	1	P	0.39964	0.697	B	0.33890	0.172	T	0.59595	-0.7425	10	0.54805	T	0.06	.	14.1424	0.65327	0.0:0.8488:0.1511:0.0	.	221	Q99705	MCHR1_HUMAN	K	221	ENSP00000249016:T221K	ENSP00000249016:T221K	T	+	2	0	MCHR1	39407271	0.945000	0.32115	1.000000	0.80357	0.935000	0.57460	6.199000	0.72112	2.559000	0.86315	0.655000	0.94253	ACG		0.587	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		75	159	0	0	0	1	0	75	159				
PPP6R3	55291	broad.mit.edu	37	11	68369335	68369335	+	Missense_Mutation	SNP	A	A	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:68369335A>G	ENST00000393800.2	+	21	2451	c.2197A>G	c.(2197-2199)Aaa>Gaa	p.K733E	PPP6R3_ENST00000534534.1_Missense_Mutation_p.K501E|PPP6R3_ENST00000393799.2_Missense_Mutation_p.K733E|PPP6R3_ENST00000524904.1_Missense_Mutation_p.K727E|PPP6R3_ENST00000393801.3_Missense_Mutation_p.K733E|PPP6R3_ENST00000529710.1_Missense_Mutation_p.K653E|PPP6R3_ENST00000527403.2_Missense_Mutation_p.K698E|PPP6R3_ENST00000524845.1_Missense_Mutation_p.K704E|PPP6R3_ENST00000265636.5_Missense_Mutation_p.K653E|PPP6R3_ENST00000265637.4_Missense_Mutation_p.K687E	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	733					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGAAAGCACAAAAGATTCTTT	0.443																																						uc001onv.3																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2197-2199)Aaa>Gaa		Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.							89.0	98.0	95.0					11																	68369335		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68369335A>G	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2197A>G	11.37:g.68369335A>G	ENSP00000377389:p.Lys733Glu					PPP6R3_uc001onw.3_Missense_Mutation_p.K733E|PPP6R3_uc001ony.4_Missense_Mutation_p.K704E|PPP6R3_uc001onx.3_Missense_Mutation_p.K727E|PPP6R3_uc009ysh.3_Missense_Mutation_p.K653E|PPP6R3_uc001onu.3_Missense_Mutation_p.K653E|PPP6R3_uc010rqc.2_Missense_Mutation_p.K501E|PPP6R3_uc010rqd.2_Missense_Mutation_p.K416E|PPP6R3_uc001onz.3_Missense_Mutation_p.K61E|PPP6R3_uc001ooa.3_Missense_Mutation_p.K183E	p.K733E	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN			20	2464	+			733					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.2197A>G	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	A	7.980	0.751073	0.15778	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	4.91	4.91	0.64330	.	0.045988	0.85682	D	0.000000	T	0.41558	0.1164	N	0.19112	0.55	0.47862	D	0.999539	P;B;B;B;B;B;P;B	0.39920	0.653;0.247;0.001;0.001;0.001;0.001;0.695;0.001	B;B;B;B;B;B;P;B	0.46275	0.233;0.125;0.007;0.007;0.006;0.003;0.51;0.01	T	0.28996	-1.0026	10	0.02654	T	1	.	14.7382	0.69434	1.0:0.0:0.0:0.0	.	416;501;653;704;727;733;733;653	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	E	733;733;501;704;687;727;733;653;653;698;440	ENSP00000377388:K733E;ENSP00000377389:K733E;ENSP00000434429:K501E;ENSP00000431415:K704E;ENSP00000265637:K687E;ENSP00000433058:K727E;ENSP00000377390:K733E;ENSP00000265636:K653E;ENSP00000437329:K653E;ENSP00000433565:K698E;ENSP00000436209:K440E	ENSP00000265636:K653E	K	+	1	0	PPP6R3	68125911	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	8.157000	0.89647	2.069000	0.61940	0.482000	0.46254	AAA		0.443	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		73	110	0	0	0	1	0	73	110				
CPT1A	1374	broad.mit.edu	37	11	68582878	68582878	+	Missense_Mutation	SNP	C	C	T	rs141658962		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:68582878C>T	ENST00000265641.5	-	2	219	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	CPT1A_ENST00000540367.1_Missense_Mutation_p.R22Q|CPT1A_ENST00000539743.1_Missense_Mutation_p.R22Q|CPT1A_ENST00000376618.2_Missense_Mutation_p.R22Q	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	22					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	ATGGCTCAGCCGCAGGTCAAT	0.458																																						uc001oog.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(64-66)cGg>cAg		Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	L-Carnitine(DB00583)|Perhexiline(DB01074)	C	GLN/ARG,GLN/ARG	2,4398	4.2+/-10.8	0,2,2198	79.0	72.0	75.0		65,65	-1.1	0.2	11	dbSNP_134	75	0,8588		0,0,4294	no	missense,missense	CPT1A	NM_001031847.2,NM_001876.3	43,43	0,2,6492	TT,TC,CC		0.0,0.0455,0.0154	benign,benign	22/757,22/774	68582878	2,12986	2200	4294	6494	SO:0001583	missense	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68582878C>T	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.65G>A	11.37:g.68582878C>T	ENSP00000265641:p.Arg22Gln					CPT1A_uc001oof.4_Missense_Mutation_p.R22Q	p.R22Q	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		1	235	-	Esophageal squamous(3;3.28e-14)		22					Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.65G>A	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	2.673	-0.277040	0.05679	4.55E-4	0.0	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.84146	-1.81;-1.81;-1.77;-1.77	4.6	-1.12	0.09808	.	0.750134	0.13092	N	0.414478	T	0.67002	0.2847	N	0.05467	-0.045	0.29698	N	0.840374	B;B;B	0.16166	0.004;0.015;0.016	B;B;B	0.14023	0.001;0.003;0.01	T	0.52351	-0.8587	10	0.17832	T	0.49	.	10.7631	0.46277	0.0:0.8872:0.0:0.1128	.	22;22;22	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	Q	22	ENSP00000439084:R22Q;ENSP00000365803:R22Q;ENSP00000265641:R22Q;ENSP00000446108:R22Q	ENSP00000265641:R22Q	R	-	2	0	CPT1A	68339454	0.428000	0.25522	0.185000	0.23176	0.508000	0.34012	0.962000	0.29280	-0.587000	0.05890	-0.339000	0.08088	CGG		0.458	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		16	80	0	0	0	1	0	16	80				
PADI1	29943	broad.mit.edu	37	1	17559436	17559436	+	Silent	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr1:17559436C>T	ENST00000375471.4	+	11	1376	c.1284C>T	c.(1282-1284)ggC>ggT	p.G428G	PADI1_ENST00000536552.1_5'Flank|PADI1_ENST00000537499.1_5'Flank|PADI1_ENST00000413717.2_5'Flank	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	428					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ACCCCCTGGGCCGGATCCTCA	0.692																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	uc001bah.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(1282-1284)ggC>ggT		Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	L-Citrulline(DB00155)						20.0	18.0	19.0					1																	17559436		2203	4300	6503	SO:0001819	synonymous_variant	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17559436C>T	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1284C>T	1.37:g.17559436C>T						PADI1_uc010oco.1_5'Flank|PADI1_uc010ocp.1_5'Flank|PADI1_uc010ocq.1_5'Flank	p.G428G	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	10	1376	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	428					A1L4K6|Q70SX6	Silent	SNP	ENST00000375471.4	37	c.1284C>T	CCDS178.1																																																																																				0.692	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		18	18	0	0	0	1	0	18	18				
CHD2	1106	broad.mit.edu	37	15	93567883	93567883	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr15:93567883C>T	ENST00000394196.4	+	39	6503	c.5435C>T	c.(5434-5436)tCa>tTa	p.S1812L		NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1812					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTGGAGAGATCACTAGAACAG	0.463																																						uc002bsp.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(5434-5436)tCa>tTa		Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.							75.0	72.0	73.0					15																	93567883		1862	4107	5969	SO:0001583	missense	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93567883C>T	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.5435C>T	15.37:g.93567883C>T	ENSP00000377747:p.Ser1812Leu						p.S1812L	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		38	6010	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1812					C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	c.5435C>T	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318462	0.81469	.	.	ENSG00000173575	ENST00000394196	D	0.92099	-2.97	5.69	5.69	0.88448	.	.	.	.	.	D	0.85779	0.5776	N	0.24115	0.695	0.80722	D	1	P	0.38922	0.651	B	0.24974	0.057	D	0.86812	0.1999	9	0.66056	D	0.02	-6.177	20.181	0.98201	0.0:1.0:0.0:0.0	.	1812	O14647	CHD2_HUMAN	L	1812	ENSP00000377747:S1812L	ENSP00000377747:S1812L	S	+	2	0	CHD2	91368887	1.000000	0.71417	0.984000	0.44739	0.944000	0.59088	7.017000	0.76399	2.840000	0.97914	0.655000	0.94253	TCA		0.463	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		6	105	0	0	0	1	0	6	105				
WISP1	8840	broad.mit.edu	37	8	134232918	134232918	+	Silent	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr8:134232918C>T	ENST00000250160.6	+	3	550	c.444C>T	c.(442-444)gaC>gaT	p.D148D	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000220856.6_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	148	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.D148E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CGTGCATCGACGGCGCGGTGG	0.667																																						uc003yub.3																			1	Substitution - Missense(1)	p.D148E(2)	lung(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(442-444)gaC>gaT		Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.							98.0	82.0	87.0					8																	134232918		2203	4300	6503	SO:0001819	synonymous_variant	8840				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134232918C>T	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.444C>T	8.37:g.134232918C>T						WISP1_uc003yuc.3_Intron|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Intron|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Intron	p.D148D	NM_003882	NP_003873	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		2	550	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		148			VWFC.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Silent	SNP	ENST00000250160.6	37	c.444C>T	CCDS6371.1																																																																																				0.667	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		64	122	0	0	0	1	0	64	122				
ADH1B	125	broad.mit.edu	37	4	100232046	100232046	+	Missense_Mutation	SNP	C	C	G			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr4:100232046C>G	ENST00000305046.8	-	8	1046	c.979G>C	c.(979-981)Gaa>Caa	p.E327Q	ADH1B_ENST00000394887.3_Missense_Mutation_p.E287Q			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	327					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GGGATACCTTCTTTACTCTTA	0.328																																						uc003hus.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(979-981)Gaa>Caa		Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	Fomepizole(DB01213)|NADH(DB00157)						119.0	122.0	121.0					4																	100232046		2203	4299	6502	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100232046C>G	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.979G>C	4.37:g.100232046C>G	ENSP00000306606:p.Glu327Gln					ADH1B_uc003hut.4_Missense_Mutation_p.E287Q|ADH1B_uc011ceh.2_Missense_Mutation_p.E172Q|ADH1B_uc011cei.1_Missense_Mutation_p.E287Q	p.E327Q	NM_000668	NP_000659	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	7	1063	-			327					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.979G>C	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470595	0.26423	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.08984	3.03;3.03	3.66	3.66	0.41972	GroES-like (1);Alcohol dehydrogenase, C-terminal (1);	0.296273	0.34507	N	0.003903	T	0.13927	0.0337	N	0.17838	0.53	0.58432	D	0.999999	B;B;B	0.25772	0.005;0.006;0.134	B;B;P	0.47864	0.016;0.04;0.559	T	0.38802	-0.9644	10	0.54805	T	0.06	-8.8668	15.3228	0.74135	0.0:1.0:0.0:0.0	.	314;287;327	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	Q	327;287;314	ENSP00000306606:E327Q;ENSP00000378351:E287Q	ENSP00000306606:E327Q	E	-	1	0	ADH1B	100451069	1.000000	0.71417	0.604000	0.28916	0.046000	0.14306	5.193000	0.65120	1.722000	0.51474	0.561000	0.74099	GAA		0.328	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		74	117	0	0	0	1	0	74	117				
DNAJA2	10294	broad.mit.edu	37	16	46998681	46998681	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr16:46998681C>T	ENST00000317089.5	-	6	831	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	206					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TTCTTCCCTTCACATTTTTTA	0.383																																						uc002eeo.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(616-618)Gaa>Aaa		Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 2 (DNAJA2), mRNA.							172.0	158.0	163.0					16																	46998681		2203	4300	6503	SO:0001583	missense	10294				positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	g.chr16:46998681C>T	AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"""Heat shock proteins / DNAJ (HSP40)"""	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.616G>A	16.37:g.46998681C>T	ENSP00000314030:p.Glu206Lys						p.E206K	NM_005880	NP_005871	O60884	DNJA2_HUMAN			5	758	-		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)	206					B2R7L7|O14711	Missense_Mutation	SNP	ENST00000317089.5	37	c.616G>A	CCDS10726.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823601	0.50739	.	.	ENSG00000069345	ENST00000317089	T	0.35789	1.29	6.17	6.17	0.99709	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (4);	0.045861	0.85682	D	0.000000	T	0.15392	0.0371	N	0.01250	-0.93	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.31696	-0.9934	10	0.02654	T	1	-21.4236	20.8794	0.99867	0.0:1.0:0.0:0.0	.	206	O60884	DNJA2_HUMAN	K	206	ENSP00000314030:E206K	ENSP00000314030:E206K	E	-	1	0	DNAJA2	45556182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.526000	0.81920	2.941000	0.99782	0.655000	0.94253	GAA		0.383	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2			48	78	0	0	0	1	0	48	78				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		46	61	0	0	0	1	0	46	61				
PTPRR	5801	broad.mit.edu	37	12	71056321	71056321	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr12:71056321C>T	ENST00000283228.2	-	11	2014	c.1562G>A	c.(1561-1563)aGt>aAt	p.S521N	PTPRR_ENST00000342084.4_Missense_Mutation_p.S409N|PTPRR_ENST00000440835.2_Missense_Mutation_p.S276N|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000378778.1_Missense_Mutation_p.S315N|PTPRR_ENST00000549308.1_Missense_Mutation_p.S276N	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	521	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTCATTTACACTGATAACCAG	0.363																																						uc001swi.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(1561-1563)aGt>aAt		Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.							132.0	115.0	121.0					12																	71056321		2203	4299	6502	SO:0001583	missense	5801				in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71056321C>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1562G>A	12.37:g.71056321C>T	ENSP00000283228:p.Ser521Asn					PTPRR_uc001swf.2_Non-coding_Transcript|PTPRR_uc001swg.2_Non-coding_Transcript|PTPRR_uc001swh.2_Missense_Mutation_p.S276N|PTPRR_uc009zrs.3_Missense_Mutation_p.S315N|PTPRR_uc010stq.2_Missense_Mutation_p.S409N|PTPRR_uc010str.1_Missense_Mutation_p.S370N	p.S521N	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	10	1976	-			521			Tyrosine-protein phosphatase.		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1562G>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073528	0.36566	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.67	-0.584	0.11702	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.458783	0.20224	N	0.096629	T	0.23133	0.0559	L	0.43554	1.36	0.28648	N	0.906821	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.24905	-1.0147	10	0.19147	T	0.46	-2.3077	13.4684	0.61268	0.0:0.8486:0.0:0.1514	.	370;409;315;521	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	N	276;521;315;409;276	ENSP00000391750:S276N;ENSP00000283228:S521N;ENSP00000368054:S315N;ENSP00000339605:S409N;ENSP00000446943:S276N	ENSP00000283228:S521N	S	-	2	0	PTPRR	69342588	0.396000	0.25262	0.962000	0.40283	0.991000	0.79684	0.116000	0.15561	-0.311000	0.08754	0.655000	0.94253	AGT		0.363	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		23	39	0	0	0	1	0	23	39				
MSANTD4	84437	broad.mit.edu	37	11	105880518	105880518	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr11:105880518C>T	ENST00000301919.4	-	3	2197	c.782G>A	c.(781-783)aGa>aAa	p.R261K	MSANTD4_ENST00000529805.1_5'Flank	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	261						nucleus (GO:0005634)											CAACTTTTCTCTTTCAATCTG	0.443																																						uc001piy.3																			0											c.(781-783)aGa>aAa		Homo sapiens KIAA1826 (KIAA1826), mRNA.							102.0	97.0	99.0					11																	105880518		2201	4299	6500	SO:0001583	missense	84437					nucleus		g.chr11:105880518C>T	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.782G>A	11.37:g.105880518C>T	ENSP00000304713:p.Arg261Lys					MSANTD4_uc001piz.3_Missense_Mutation_p.R261K	p.R261K	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN			2	955	-			261					Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	c.782G>A	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075580	0.36662	.	.	ENSG00000170903	ENST00000301919	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	L	0.29908	0.895	0.43608	D	0.995977	B	0.31054	0.306	B	0.31547	0.132	T	0.39187	-0.9626	9	0.26408	T	0.33	-22.493	19.684	0.95974	0.0:1.0:0.0:0.0	.	261	Q8NCY6	K1826_HUMAN	K	261	.	ENSP00000304713:R261K	R	-	2	0	KIAA1826	105385728	0.733000	0.28132	0.126000	0.21872	0.392000	0.30506	6.838000	0.75359	2.654000	0.90174	0.491000	0.48974	AGA		0.443	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424		69	107	0	0	0	1	0	69	107				
PPM1D	8493	broad.mit.edu	37	17	58740540	58740544	+	Frame_Shift_Del	DEL	TGACT	TGACT	-			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr17:58740540_58740544delTGACT	ENST00000305921.3	+	6	1677_1681	c.1445_1449delTGACT	c.(1444-1449)ctgactfs	p.LT482fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	482					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GCTAAAGCCCTGACTTTAAGGATAC	0.385											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc002iyt.2																			0		p.A481V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1444-1449)ctgactfs		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.																																				SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740540_58740544delTGACT	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1445_1449delTGACT	17.37:g.58740540_58740544delTGACT	ENSP00000306682:p.Leu482fs		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033	PPM1D_uc010ddm.2_Non-coding_Transcript	p.L482fs	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		5	1677_1681	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		482					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Del	DEL	ENST00000305921.3	37	c.1445_1449delTGACT	CCDS11625.1																																																																																				0.385	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		31	102						31	102	---	---	---	---
PPM1D	8493	broad.mit.edu	37	17	58740540	58740544	+	Frame_Shift_Del	DEL	TGACT	TGACT	-			TCGA-E8-A418-01A-11D-A23M-08	TCGA-E8-A418-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63ea274b-d42b-4787-9c54-8ee95ea376ec	e20b80fd-0ac9-4507-b307-3915e218603e	g.chr17:58740540_58740544delTGACT	ENST00000305921.3	+	6	1677_1681	c.1445_1449delTGACT	c.(1444-1449)ctgactfs	p.LT482fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	482					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GCTAAAGCCCTGACTTTAAGGATAC	0.385											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc002iyt.2																			0		p.A481V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1444-1449)ctgactfs		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.																																				SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740540_58740544delTGACT	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1445_1449delTGACT	17.37:g.58740540_58740544delTGACT	ENSP00000306682:p.Leu482fs		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033	PPM1D_uc010ddm.2_Non-coding_Transcript	p.L482fs	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		5	1677_1681	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		482					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Del	DEL	ENST00000305921.3	37	c.1445_1449delTGACT	CCDS11625.1																																																																																				0.385	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		37	69						37	69	---	---	---	---
