#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
C16orf62	57020	broad.mit.edu	37	16	19580877	19580877	+	Silent	SNP	A	A	C	rs369135032		TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr16:19580877A>C	ENST00000251143.5	+	3	261	c.249A>C	c.(247-249)gcA>gcC	p.A83A	C16orf62_ENST00000417362.2_Silent_p.A83A|C16orf62_ENST00000542263.1_Silent_p.A172A|C16orf62_ENST00000538853.1_Silent_p.A172A|C16orf62_ENST00000438132.3_Silent_p.A172A			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	83						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CCATGTTTGCAGCCACTGCTG	0.617																																						uc002dgn.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						c.(247-249)gcA>gcC		Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.							38.0	40.0	39.0					16																	19580877		2197	4300	6497	SO:0001819	synonymous_variant	57020					integral to membrane		g.chr16:19580877A>C		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.249A>C	16.37:g.19580877A>C			Somatic				C16orf62_uc002dgo.2_Silent_p.A172A|C16orf62_uc010vas.2_Non-coding_Transcript|C16orf62_uc002dgm.2_Silent_p.A172A	p.A83A	NM_020314	NP_064710	WXS	Illumina GAIIx	Phase_I	Q7Z3J2	CP062_HUMAN			2	564	+			83					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Silent	SNP	ENST00000251143.5	37	c.249A>C																																																																																					0.617	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314		3	97	0	0	0	1	0	3	97				
THEMIS	387357	broad.mit.edu	37	6	128150695	128150695	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr6:128150695G>A	ENST00000368248.2	-	3	783	c.635C>T	c.(634-636)aCg>aTg	p.T212M	THEMIS_ENST00000543064.1_Missense_Mutation_p.T212M|THEMIS_ENST00000368250.1_Missense_Mutation_p.T133M|THEMIS_ENST00000537166.1_Missense_Mutation_p.T177M	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	212	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AAATGGATTCGTTGAGTCCCA	0.358																																						uc011ebt.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(634-636)aCg>aTg		Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.							123.0	119.0	121.0					6																	128150695		2203	4300	6503	SO:0001583	missense	387357				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus		g.chr6:128150695G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.635C>T	6.37:g.128150695G>A	ENSP00000357231:p.Thr212Met		Somatic				THEMIS_uc010kfa.3_Missense_Mutation_p.T115M|THEMIS_uc021zfa.1_Missense_Mutation_p.T212M|THEMIS_uc010kfb.3_Missense_Mutation_p.T177M	p.T212M	NM_001164685	NP_001158157	WXS	Illumina GAIIx	Phase_I	Q8N1K5	THMS1_HUMAN			2	784	-			212			CABIT 1.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.635C>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038361	0.35989	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	6.14	-0.387	0.12463	.	0.652034	0.16370	N	0.217350	T	0.03434	0.0099	L	0.47716	1.5	0.09310	N	1	B;B	0.18610	0.029;0.023	B;B	0.15484	0.005;0.013	T	0.42258	-0.9462	10	0.27785	T	0.31	-0.7853	7.935	0.29925	0.3086:0.0:0.5905:0.101	.	212;212	F5H1J9;Q8N1K5	.;THMS1_HUMAN	M	133;212;212;177	ENSP00000357233:T133M;ENSP00000439594:T212M;ENSP00000357231:T212M;ENSP00000439863:T177M	ENSP00000357231:T212M	T	-	2	0	THEMIS	128192388	0.005000	0.15991	0.170000	0.22879	0.807000	0.45602	0.243000	0.18106	-0.022000	0.13986	-0.827000	0.03088	ACG		0.358	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		5	92	0	0	0	1	0	5	92				
FLJ36000	284124	broad.mit.edu	37	17	21904174	21904174	+	lincRNA	SNP	G	G	C			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr17:21904174G>C	ENST00000581223.2	+	0	0					NR_027084.1																						gggaagcagcgtggcatccca	0.677																																						uc002gza.2																			0													Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																																						284124							g.chr17:21904174G>C																													17.37:g.21904174G>C			Somatic								WXS	Illumina GAIIx	Phase_I					0		+									RNA	SNP	ENST00000581223.2	37	c.113G>C																																																																																					0.677	RP11-744K17.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000451067.1			7	135	0	0	0	1	0	7	135				
TSHR	7253	broad.mit.edu	37	14	81610320	81610320	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr14:81610320A>G	ENST00000541158.2	+	11	2240	c.1918A>G	c.(1918-1920)Atc>Gtc	p.I640V	TSHR_ENST00000298171.2_Missense_Mutation_p.I640V|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	640					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CATGGCCCCAATCTCATTCTA	0.463			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															uc001xvd.1			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		0		p.P639S(2)|p.P639Q(1)|p.P639A(1)|p.I640K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(1918-1920)Atc>Gtc		Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	Thyrotropin Alfa(DB00024)						186.0	170.0	176.0					14																	81610320		2203	4300	6503	SO:0001583	missense	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81610320A>G	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1918A>G	14.37:g.81610320A>G	ENSP00000441235:p.Ile640Val		Somatic					p.I640V	NM_000369	NP_000360	WXS	Illumina GAIIx	Phase_I	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	9	2074	+			640					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	c.1918A>G	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.496605	0.64186	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	T;T	0.71934	-0.61;-0.61	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.85137	0.5628	M	0.85041	2.73	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	D	0.87908	0.2695	10	0.87932	D	0	.	14.8175	0.70045	1.0:0.0:0.0:0.0	.	640	F5GYU5	.	V	640;287;640	ENSP00000441235:I640V;ENSP00000298171:I640V	ENSP00000298171:I640V	I	+	1	0	TSHR	80680073	1.000000	0.71417	0.992000	0.48379	0.924000	0.55760	9.339000	0.96797	1.906000	0.55180	0.459000	0.35465	ATC		0.463	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		5	191	0	0	0	1	0	5	191				
HRNR	388697	broad.mit.edu	37	1	152190916	152190916	+	Nonsense_Mutation	SNP	G	G	T	rs141737935	byFrequency	TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:152190916G>T	ENST00000368801.2	-	3	3264	c.3189C>A	c.(3187-3189)taC>taA	p.Y1063*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1063					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTTGACCGTAGCCAGAGG	0.562																																						uc001ezt.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(3187-3189)taC>taA		Homo sapiens hornerin (HRNR), mRNA.							151.0	172.0	165.0					1																	152190916		2203	4297	6500	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152190916G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.3189C>A	1.37:g.152190916G>T	ENSP00000357791:p.Tyr1063*		Somatic					p.Y1063*	NM_001009931	NP_001009931	WXS	Illumina GAIIx	Phase_I	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3265	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1063					Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.3189C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	g	36	5.733236	0.96856	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.96	-7.91	0.01165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5341	0.07788	0.2222:0.2249:0.4417:0.1111	.	.	.	.	X	1063	.	ENSP00000357791:Y1063X	Y	-	3	2	HRNR	150457540	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.026000	0.13599	-2.446000	0.00546	-1.206000	0.01644	TAC		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		16	403	0	0	0	1	0	16	403				
GRIA1	2890	broad.mit.edu	37	5	153026644	153026644	+	Missense_Mutation	SNP	G	G	A	rs149549228		TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr5:153026644G>A	ENST00000285900.5	+	3	720	c.377G>A	c.(376-378)cGc>cAc	p.R126H	GRIA1_ENST00000448073.4_Missense_Mutation_p.R136H|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Missense_Mutation_p.R126H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R57H|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518783.1_Missense_Mutation_p.R136H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	126					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CTTCAGCTGCGCCCTGAACTG	0.507																																						uc011dcy.2																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(406-408)cGc>cAc		Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	152.0	139.0	143.0		377,377	5.6	1.0	5	dbSNP_134	143	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GRIA1	NM_000827.3,NM_001114183.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	126/907,126/907	153026644	1,13005	2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr5:153026644G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.377G>A	5.37:g.153026644G>A	ENSP00000285900:p.Arg126His		Somatic				GRIA1_uc003lva.4_Missense_Mutation_p.R126H|GRIA1_uc003luy.4_Missense_Mutation_p.R126H|GRIA1_uc003luz.4_Missense_Mutation_p.R31H|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Missense_Mutation_p.R57H|GRIA1_uc011dcz.2_Missense_Mutation_p.R136H|GRIA1_uc010jia.1_Missense_Mutation_p.R106H	p.R136H	NM_001114183	NP_001107655	WXS	Illumina GAIIx	Phase_I	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		2	434	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	126					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.407G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130291	0.94473	0.0	1.16E-4	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.55	5.55	0.83447	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94149	0.8123	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.998	D;D;D;D;P	0.97110	1.0;1.0;1.0;0.999;0.856	D	0.93603	0.6932	10	0.46703	T	0.11	.	18.489	0.90839	0.0:0.0:1.0:0.0	.	136;136;136;126;126	E7ESV8;B7Z9G9;B7Z2W8;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	H	126;126;80;126;57;57;136;136	ENSP00000285900:R126H;ENSP00000339343:R126H;ENSP00000427864:R57H;ENSP00000442108:R57H;ENSP00000428994:R136H;ENSP00000415569:R136H	ENSP00000285900:R126H	R	+	2	0	GRIA1	153006837	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.514000	0.98013	2.612000	0.88384	0.655000	0.94253	CGC		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			36	127	0	0	0	1	0	36	127				
ZNF346	23567	broad.mit.edu	37	5	176468158	176468158	+	Silent	SNP	C	C	T			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr5:176468158C>T	ENST00000358149.3	+	2	250	c.207C>T	c.(205-207)ctC>ctT	p.L69L	ZNF346_ENST00000503039.1_Silent_p.L94L|ZNF346_ENST00000261948.4_Silent_p.L94L|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000503425.1_Silent_p.L69L|ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000511834.1_Silent_p.L69L	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	69					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCAATGTCTCTTCACCAACA	0.453																																						uc003mfk.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14						c.(280-282)ctC>ctT		Homo sapiens zinc finger protein 346 (ZNF346), mRNA.							296.0	265.0	275.0					5																	176468158		2203	4300	6503	SO:0001819	synonymous_variant	23567					cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding	g.chr5:176468158C>T	AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.207C>T	5.37:g.176468158C>T			Somatic				ZNF346_uc003mfi.3_Silent_p.L69L|ZNF346_uc011dfr.2_Silent_p.L69L|ZNF346_uc011dfs.2_Intron|ZNF346_uc011dft.1_Intron	p.L94L	NM_012279	NP_036411	WXS	Illumina GAIIx	Phase_I	Q9UL40	ZN346_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	325	+	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	69					B7Z367|Q68CV9|Q6ZMW1	Silent	SNP	ENST00000358149.3	37	c.282C>T	CCDS4409.1																																																																																				0.453	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	NM_012279		34	221	0	0	0	1	0	34	221				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		96	133	0	0	0	1	0	96	133				
AMBRA1	55626	broad.mit.edu	37	11	46455150	46455150	+	Silent	SNP	G	G	A	rs532882457		TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr11:46455150G>A	ENST00000458649.2	-	14	3268	c.2850C>T	c.(2848-2850)tcC>tcT	p.S950S	AMBRA1_ENST00000528950.1_Silent_p.S921S|AMBRA1_ENST00000298834.3_Silent_p.S890S|AMBRA1_ENST00000314845.3_Silent_p.S860S|AMBRA1_ENST00000534300.1_Silent_p.S890S|AMBRA1_ENST00000426438.1_Silent_p.S921S|AMBRA1_ENST00000533727.1_Silent_p.S831S			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	950					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TGCCCATTGGGGACAGGCTCA	0.532																																						uc001ncv.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(2857-2859)tcC>tcT		Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.							75.0	61.0	66.0					11																	46455150		2201	4299	6500	SO:0001819	synonymous_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46455150G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.2850C>T	11.37:g.46455150G>A			Somatic				AMBRA1_uc010rgt.1_Silent_p.S516S|AMBRA1_uc009ylc.1_Silent_p.S921S|AMBRA1_uc001ncu.1_Silent_p.S860S|AMBRA1_uc010rgu.1_Silent_p.S950S|AMBRA1_uc001ncw.2_Silent_p.S831S|AMBRA1_uc001ncx.2_Silent_p.S890S	p.S953S	NM_017749	NP_060219	WXS	Illumina GAIIx	Phase_I	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	15	3173	-			950					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	ENST00000458649.2	37	c.2859C>T																																																																																					0.532	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		3	60	0	0	0	1	0	3	60				
C4A	720	broad.mit.edu	37	6	31964267	31964267	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr6:31964267G>A	ENST00000428956.2	+	28	3650	c.3566G>A	c.(3565-3567)gGt>gAt	p.G1189D	C4A_ENST00000498271.1_Missense_Mutation_p.G1189D	NM_007293.2	NP_009224.2	P0C0L4	CO4A_HUMAN	complement component 4A (Rodgers blood group)	1189					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement component C1q binding (GO:0001849)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	GGGCTCCTGGGTGCCCACGCA	0.602																																						uc011doy.2																			0											c.(3565-3567)gGt>gAt		Homo sapiens complement C4-B-like (LOC100293534), mRNA.							67.0	80.0	76.0					6																	31964267		1553	3538	5091	SO:0001583	missense	721				complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity	g.chr6:31964267G>A	L26261, M14823, X77491, AY224378	CCDS47404.1, CCDS59005.1	6p21.3	2014-09-17	2006-01-19		ENSG00000244731	ENSG00000244731		"""Blood group antigens"", ""Complement system"""	1323	protein-coding gene	gene with protein product		120810	"""complement component 4A"""				Standard	NM_001252204		Approved	CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG		P0C0L4	OTTHUMG00000031186	ENST00000428956.2:c.3566G>A	6.37:g.31964267G>A	ENSP00000396688:p.Gly1189Asp		Somatic				C4B_uc011doz.2_Missense_Mutation_p.G1189D	p.G1189D	NM_001242823	NP_001229752	WXS	Illumina GAIIx	Phase_I	P0C0L5	CO4B_HUMAN			27	3617	+			1189					A6H8M8|A6NHJ5|A7E2V2|B0QZR6|B0V2C8|B2RUT6|B7ZVZ6|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q4LE82|Q5JNX2|Q5JQM8|Q6P4R1|Q6U2E5|Q6U2E8|Q6U2F0|Q6U2F3|Q6U2F4|Q6U2F6|Q6U2F8|Q6U2G0|Q96EG2|Q96SA8|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	ENST00000428956.2	37	c.3566G>A	CCDS47404.1	.	.	.	.	.	.	.	.	.	.	g	10.53	1.377089	0.24857	.	.	ENSG00000244731	ENST00000428956;ENST00000498271	T;T	0.37752	1.18;1.18	3.53	2.62	0.31277	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.275268	0.34133	N	0.004237	T	0.12561	0.0305	N	0.16743	0.435	0.80722	D	1	B;P	0.37176	0.211;0.586	B;P	0.48089	0.348;0.566	T	0.05022	-1.0911	10	0.09843	T	0.71	.	6.1715	0.20421	0.1465:0.0:0.8535:0.0	.	1189;1189	A6H8M8;P0C0L4	.;CO4A_HUMAN	D	1189	ENSP00000396688:G1189D;ENSP00000420212:G1189D	ENSP00000396688:G1189D	G	+	2	0	C4A	32072246	0.979000	0.34478	0.995000	0.50966	0.421000	0.31385	1.835000	0.39181	1.673000	0.50895	0.423000	0.28283	GGT		0.602	C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076364.3	NM_007293		7	110	0	0	0	1	0	7	110				
KCNA5	3741	broad.mit.edu	37	12	5154190	5154190	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr12:5154190G>A	ENST00000252321.3	+	1	1106	c.877G>A	c.(877-879)Gcg>Acg	p.A293T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	293					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CCAGCCTCCCGCGCCCGCCCC	0.687																																						uc001qni.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(877-879)Gcg>Acg		Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.							29.0	36.0	34.0					12																	5154190		2199	4290	6489	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154190G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.877G>A	12.37:g.5154190G>A	ENSP00000252321:p.Ala293Thr		Somatic					p.A293T	NM_002234	NP_002225	WXS	Illumina GAIIx	Phase_I	P22460	KCNA5_HUMAN			0	1106	+			293					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.877G>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	G	0.773	-0.764988	0.02996	.	.	ENSG00000130037	ENST00000252321	D	0.97404	-4.37	4.77	3.85	0.44370	.	1154.810000	0.00166	N	0.000004	D	0.90089	0.6904	N	0.01789	-0.72	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.82190	-0.0580	10	0.11794	T	0.64	.	9.0255	0.36227	0.1676:0.0:0.8324:0.0	.	293	P22460	KCNA5_HUMAN	T	293	ENSP00000252321:A293T	ENSP00000252321:A293T	A	+	1	0	KCNA5	5024451	.	.	0.021000	0.16686	0.249000	0.25844	.	.	2.478000	0.83669	0.561000	0.74099	GCG		0.687	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		4	83	0	0	0	1	0	4	83				
PLEKHM2	23207	broad.mit.edu	37	1	16057150	16057150	+	Missense_Mutation	SNP	C	C	G	rs370220957		TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:16057150C>G	ENST00000375799.3	+	15	2559	c.2332C>G	c.(2332-2334)Ctg>Gtg	p.L778V	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.L758V|PLEKHM2_ENST00000477849.1_3'UTR	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	778	Interaction with sifA.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGAAGGCATGCTGCACTACAA	0.652																																						uc010obo.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(2332-2334)Ctg>Gtg		Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA.							57.0	64.0	62.0					1																	16057150		2108	4226	6334	SO:0001583	missense	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16057150C>G	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2332C>G	1.37:g.16057150C>G	ENSP00000364956:p.Leu778Val		Somatic					p.L778V	NM_015164	NP_055979	WXS	Illumina GAIIx	Phase_I	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	14	2559	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	778			Interaction with sifA.|PH.		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	ENST00000375799.3	37	c.2332C>G	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337621	0.81911	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	D;D	0.82255	-1.59;-1.59	5.31	4.39	0.52855	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000001	D	0.88858	0.6551	M	0.65498	2.005	0.58432	D	0.999999	D	0.71674	0.998	D	0.83275	0.996	D	0.89093	0.3484	10	0.87932	D	0	-12.7286	10.5067	0.44839	0.0:0.8501:0.0:0.1499	.	778	Q8IWE5	PKHM2_HUMAN	V	778;758	ENSP00000364956:L778V;ENSP00000364950:L758V	ENSP00000364950:L758V	L	+	1	2	PLEKHM2	15929737	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.392000	0.59659	1.228000	0.43614	0.655000	0.94253	CTG		0.652	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		8	15	0	0	0	1	0	8	15				
CERS2	29956	broad.mit.edu	37	1	150940318	150940318	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:150940318G>A	ENST00000271688.6	-	5	832	c.446C>T	c.(445-447)gCc>gTc	p.A149V	CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Missense_Mutation_p.A140V|CERS2_ENST00000368954.5_Missense_Mutation_p.A149V|RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	149	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GGCCATGCCGGCAATGAAGGC	0.542																																						uc001evy.3																			0											c.(445-447)gCc>gTc		Homo sapiens ceramide synthase 2 (CERS2), transcript variant 1, mRNA.							151.0	132.0	139.0					1																	150940318		2203	4300	6503	SO:0001583	missense	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150940318G>A	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.446C>T	1.37:g.150940318G>A	ENSP00000271688:p.Ala149Val		Somatic				CERS2_uc001evz.3_Missense_Mutation_p.A149V|CERS2_uc009wmh.3_5'UTR	p.A149V	NM_181746	NP_859530	WXS	Illumina GAIIx	Phase_I	Q96G23	CERS2_HUMAN			4	872	-			149			TLC.		D3DV06|Q5SZE5|Q9HD96|Q9NW79	Missense_Mutation	SNP	ENST00000271688.6	37	c.446C>T	CCDS973.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087830	0.55968	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000368949;ENST00000361419;ENST00000421609	D;D;D;D;T	0.85773	-2.03;-2.03;-2.03;-2.03;2.31	4.89	4.89	0.63831	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	T	0.78285	0.4259	M	0.66378	2.025	0.80722	D	1	B	0.26635	0.155	B	0.29663	0.105	T	0.75786	-0.3195	10	0.20046	T	0.44	-12.1187	17.8497	0.88742	0.0:0.0:1.0:0.0	.	149	Q96G23	CERS2_HUMAN	V	149;149;169;149;149	ENSP00000357950:A149V;ENSP00000271688:A149V;ENSP00000357945:A169V;ENSP00000355020:A149V;ENSP00000393239:A149V	ENSP00000271688:A149V	A	-	2	0	CERS2	149206942	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	5.074000	0.64401	2.536000	0.85505	0.655000	0.94253	GCC		0.542	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		4	162	0	0	0	1	0	4	162				
VGLL4	9686	broad.mit.edu	37	3	11684953	11684953	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr3:11684953A>C	ENST00000430365.2	-	1	445	c.40T>G	c.(40-42)Ttg>Gtg	p.L14V	VGLL4_ENST00000404339.1_Intron|VGLL4_ENST00000273038.3_Intron	NM_001128219.1	NP_001121691.1	Q14135	VGLL4_HUMAN	vestigial-like family member 4	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ATCTTGTCCAAGTACTGATAG	0.438																																						uc010hdx.1																			0		p.S13F(1)		NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(40-42)Ttg>Gtg		Homo sapiens vestigial like 4 (Drosophila) (VGLL4), transcript variant 1, mRNA.							201.0	193.0	195.0					3																	11684953		1568	3582	5150	SO:0001583	missense	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11684953A>C	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"""vestigial like 4 (Drosophila)"""			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000430365.2:c.40T>G	3.37:g.11684953A>C	ENSP00000404251:p.Leu14Val		Somatic				VGLL4_uc003bwf.2_Intron|VGLL4_uc003bwg.2_Intron	p.L14V	NM_001128219	NP_001121691	WXS	Illumina GAIIx	Phase_I	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	0	446	-			0					B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Missense_Mutation	SNP	ENST00000430365.2	37	c.40T>G	CCDS46754.1	.	.	.	.	.	.	.	.	.	.	A	19.41	3.821875	0.71028	.	.	ENSG00000144560	ENST00000430365	T	0.58506	0.33	5.63	0.573	0.17363	.	.	.	.	.	T	0.70535	0.3235	M	0.73598	2.24	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.67711	-0.5600	9	0.66056	D	0.02	-0.1671	8.311	0.32071	0.6837:0.0:0.3163:0.0	.	14	G5E9M7	.	V	14	ENSP00000404251:L14V	ENSP00000404251:L14V	L	-	1	2	VGLL4	11659953	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.280000	0.43443	-0.121000	0.11787	-0.290000	0.09829	TTG		0.438	VGLL4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339133.1	NM_014667		35	199	0	0	0	1	0	35	199				
RBMX2	51634	broad.mit.edu	37	X	129546577	129546577	+	Silent	SNP	C	C	T			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chrX:129546577C>T	ENST00000305536.6	+	6	788	c.724C>T	c.(724-726)Ctg>Ttg	p.L242L		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	242	Lys-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						AGAGAGGGAGCTGAAGAAGGA	0.572																																						uc004evt.3																			0				breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.(724-726)Ctg>Ttg		Homo sapiens RNA binding motif protein, X-linked 2 (RBMX2), mRNA.							52.0	51.0	51.0					X																	129546577		1927	4130	6057	SO:0001819	synonymous_variant	51634						RNA binding|nucleotide binding	g.chrX:129546577C>T	AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.724C>T	X.37:g.129546577C>T			Somatic					p.L242L	NM_016024	NP_057108	WXS	Illumina GAIIx	Phase_I	Q9Y388	RBMX2_HUMAN			5	788	+			242			Lys-rich.		A8K9Z0|Q5JY82|Q9Y3I8	Silent	SNP	ENST00000305536.6	37	c.724C>T	CCDS43993.1																																																																																				0.572	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058265.1	NM_016024		3	41	0	0	0	1	0	3	41				
PLA2G5	5322	broad.mit.edu	37	1	20412680	20412681	+	Missense_Mutation	DNP	GG	GG	CT	rs387906796		TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr1:20412680_20412681GG>CT	ENST00000375108.3	+	3	413_414	c.145_146GG>CT	c.(145-147)GGc>CTc	p.G49L	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	49			G -> S (in FRFB). {ECO:0000269|PubMed:22137173}.		arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)	p.G49S(1)		NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		CTGTTACTGCGGCTGGGGCGGC	0.554																																						uc001bcx.3																			1	Substitution - Missense(1)	p.G49S(1)	lung(1)	NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(238-240)ggc>CTc		Homo sapiens phospholipase A2, group V (PLA2G5), mRNA.																																				SO:0001583	missense	5322				lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr1:20412680_20412681GG>CT	U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698	Exception_encountered	1.37:g.20412680_20412681delinsCT	ENSP00000364249:p.Gly49Leu		Somatic				PLA2G5_uc001bcy.3_Missense_Mutation_p.G49L	p.G80L	NM_000929	NP_000920	WXS	Illumina GAIIx	Phase_I	P39877	PA2G5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)	7	1101_1102	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)	49					Q8N435	Missense_Mutation	DNP	ENST00000375108.3	37	c.238_239GG>CT	CCDS202.1																																																																																				0.554	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007668.1	NM_000929		6	84	0	0	0	1	0	6	84				
GRIA2	2891	broad.mit.edu	37	4	158142928	158142928	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr4:158142928G>C	ENST00000264426.9	+	2	477	c.198G>C	c.(196-198)gaG>gaC	p.E66D	GRIA2_ENST00000507898.1_Missense_Mutation_p.E19D|GRIA2_ENST00000449365.1_Missense_Mutation_p.E19D|GRIA2_ENST00000504801.1_Intron|GRIA2_ENST00000393815.2_Missense_Mutation_p.E19D|GRIA2_ENST00000296526.7_Missense_Mutation_p.E66D	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	66					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ACAATTTGGAGGTGGCAAACA	0.502																																						uc003ipm.4																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(196-198)gaG>gaC		Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	L-Glutamic Acid(DB00142)						111.0	109.0	110.0					4																	158142928		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158142928G>C		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.198G>C	4.37:g.158142928G>C	ENSP00000264426:p.Glu66Asp		Somatic				GRIA2_uc011cit.2_Missense_Mutation_p.E19D|GRIA2_uc021xtr.1_Missense_Mutation_p.E66D|GRIA2_uc003ipl.4_Missense_Mutation_p.E66D|GRIA2_uc003ipk.4_Missense_Mutation_p.E19D|GRIA2_uc010iqh.1_Non-coding_Transcript	p.E66D	NM_001083619	NP_001077088	WXS	Illumina GAIIx	Phase_I	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	1	657	+	all_hematologic(180;0.24)	Renal(120;0.0458)	66					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.198G>C	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791911	0.50102	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000509417;ENST00000296526;ENST00000264426;ENST00000506284;ENST00000505888;ENST00000449365	D;D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.35	5.35	0.76521	Extracellular ligand-binding receptor (1);	0.050340	0.85682	D	0.000000	T	0.72803	0.3506	N	0.11427	0.14	0.53688	D	0.999978	P;B;P	0.40197	0.706;0.0;0.706	B;B;B	0.42163	0.378;0.001;0.305	T	0.71695	-0.4515	10	0.19590	T	0.45	.	18.6636	0.91479	0.0:0.0:1.0:0.0	.	66;66;19	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	D	19;19;66;66;66;19;19;19	ENSP00000426845:E19D;ENSP00000377403:E19D;ENSP00000425217:E66D;ENSP00000296526:E66D;ENSP00000264426:E66D;ENSP00000426513:E19D;ENSP00000422038:E19D;ENSP00000389837:E19D	ENSP00000264426:E66D	E	+	3	2	GRIA2	158362378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.256000	0.51492	2.497000	0.84241	0.555000	0.69702	GAG		0.502	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			11	109	0	0	0	1	0	11	109				
COX7B	1349	broad.mit.edu	37	X	77155051	77155051	+	Start_Codon_SNP	SNP	A	A	G			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chrX:77155051A>G	ENST00000481445.1	+	1	117	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	COX7B_ENST00000475465.1_3'UTR	NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb	1					cellular metabolic process (GO:0044237)|central nervous system development (GO:0007417)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)	2						CACCTTCACGATGTTTCCCTT	0.443																																						uc004ecu.1																			0				endometrium(2)	2						c.(1-3)Atg>Gtg		Homo sapiens cytochrome c oxidase subunit VIIb (COX7B), nuclear gene encoding mitochondrial protein, mRNA.							128.0	90.0	103.0					X																	77155051		2203	4296	6499	SO:0001582	initiator_codon_variant	1349				respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chrX:77155051A>G	Z14244	CCDS14437.1	Xq21.1	2011-07-04			ENSG00000131174	ENSG00000131174		"""Mitochondrial respiratory chain complex / Complex IV"""	2291	protein-coding gene	gene with protein product		300885				8382530	Standard	NM_001866		Approved		uc004ecu.1	P24311	OTTHUMG00000022718	ENST00000481445.1:c.1A>G	X.37:g.77155051A>G	ENSP00000417656:p.Met1Val		Somatic					p.M1V	NM_001866	NP_001857	WXS	Illumina GAIIx	Phase_I	P24311	COX7B_HUMAN			0	91	+			1					B2R4M3|Q6ICR1	Missense_Mutation	SNP	ENST00000481445.1	37	c.1A>G	CCDS14437.1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.539645	0.45176	.	.	ENSG00000131174	ENST00000481445	T	0.55234	0.53	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	.	.	.	0.54753	D	0.999981	P	0.47762	0.9	P	0.45794	0.493	T	0.59931	-0.7361	9	0.87932	D	0	-7.7366	11.5645	0.50796	1.0:0.0:0.0:0.0	.	1	P24311	COX7B_HUMAN	V	1	ENSP00000417656:M1V	ENSP00000417656:M1V	M	+	1	0	COX7B	77041707	1.000000	0.71417	0.982000	0.44146	0.214000	0.24535	4.108000	0.57817	2.003000	0.58678	0.486000	0.48141	ATG		0.443	COX7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058970.1	NM_001866	Missense_Mutation	8	50	0	0	0	1	0	8	50				
EZH1	2145	broad.mit.edu	37	17	40865386	40865386	+	Missense_Mutation	SNP	T	T	A			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr17:40865386T>A	ENST00000428826.2	-	11	1166	c.1045A>T	c.(1045-1047)Atg>Ttg	p.M349L	EZH1_ENST00000435174.1_Missense_Mutation_p.M210L|EZH1_ENST00000585893.1_Missense_Mutation_p.M309L|EZH1_ENST00000590078.1_Missense_Mutation_p.M279L|EZH1_ENST00000415827.2_Missense_Mutation_p.M340L|EZH1_ENST00000592743.1_Missense_Mutation_p.M349L			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	349					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTGTGGAGCATGGCATACTCC	0.522																																						uc010wgu.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(1063-1065)Atg>Ttg		Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.							95.0	84.0	88.0					17																	40865386		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding	g.chr17:40865386T>A		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1045A>T	17.37:g.40865386T>A	ENSP00000404658:p.Met349Leu		Somatic				EZH1_uc002iaz.3_Missense_Mutation_p.M349L|EZH1_uc002iba.3_Missense_Mutation_p.M340L|EZH1_uc010wgt.2_Missense_Mutation_p.M279L|EZH1_uc010wgv.2_Missense_Mutation_p.M309L|EZH1_uc010wgw.2_Missense_Mutation_p.M210L|EZH1_uc010cyp.2_Missense_Mutation_p.M250L|EZH1_uc010cyq.2_Missense_Mutation_p.M266L|EZH1_uc010cys.2_Missense_Mutation_p.M300L|EZH1_uc010cyo.1_Missense_Mutation_p.M12L|EZH1_uc010cyr.1_Missense_Mutation_p.M1L	p.M355L	NM_001991	NP_001982	WXS	Illumina GAIIx	Phase_I	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	9	1099	-		Breast(137;0.00104)	349					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.1063A>T	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983366	0.35036	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.78246	-1.16;-1.16	5.26	4.19	0.49359	.	0.243530	0.51477	D	0.000095	T	0.59183	0.2175	N	0.14661	0.345	0.31423	N	0.674086	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.002;0.001;0.001	T	0.57075	-0.7873	10	0.31617	T	0.26	.	8.6508	0.34033	0.0:0.1662:0.0:0.8338	.	210;309;355;279;349	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	L	352;349;309;210	ENSP00000404658:M349L;ENSP00000404071:M210L	ENSP00000264646:M352L	M	-	1	0	EZH1	38118912	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.908000	0.39907	1.030000	0.39839	0.454000	0.30748	ATG		0.522	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		6	136	0	0	0	1	0	6	136				
RAPH1	65059	broad.mit.edu	37	2	204322299	204322299	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr2:204322299T>C	ENST00000319170.5	-	8	1411	c.1112A>G	c.(1111-1113)aAa>aGa	p.K371R	RAPH1_ENST00000423104.1_Missense_Mutation_p.K398R|RAPH1_ENST00000374489.2_Missense_Mutation_p.K398R|RAPH1_ENST00000457812.1_Missense_Mutation_p.K371R|RAPH1_ENST00000308091.4_Missense_Mutation_p.K423R|RAPH1_ENST00000374488.2_Missense_Mutation_p.K396R|RAPH1_ENST00000374493.3_Missense_Mutation_p.K423R|RAPH1_ENST00000453034.1_Missense_Mutation_p.K423R|RAPH1_ENST00000439222.1_Missense_Mutation_p.K396R|RAPH1_ENST00000419464.1_Missense_Mutation_p.K371R|RAPH1_ENST00000418114.1_Missense_Mutation_p.K371R	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	371					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCTGTTTCTTTTTTCCCCAA	0.373																																						uc002vad.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1111-1113)aAa>aGa		Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.							157.0	168.0	164.0					2																	204322299		2203	4300	6503	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204322299T>C	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1112A>G	2.37:g.204322299T>C	ENSP00000316543:p.Lys371Arg		Somatic				RAPH1_uc002vae.3_Missense_Mutation_p.K423R|RAPH1_uc002vaf.3_Missense_Mutation_p.K423R	p.K371R	NM_213589	NP_998754	WXS	Illumina GAIIx	Phase_I	Q70E73	RAPH1_HUMAN			7	1337	-			371					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.1112A>G	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543609	0.65198	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	T;T;T;T;T;T;T;T;T;T;T	0.51325	0.81;0.72;0.71;0.8;0.79;0.79;0.79;0.81;0.8;0.78;0.8	5.27	5.27	0.74061	.	0.000000	0.47852	D	0.000206	T	0.58779	0.2146	L	0.45581	1.43	0.53005	D	0.999962	D;B;B	0.76494	0.999;0.001;0.071	D;B;B	0.71184	0.972;0.003;0.019	T	0.61618	-0.7026	10	0.72032	D	0.01	-17.4157	10.1509	0.42794	0.0:0.0791:0.0:0.9209	.	423;423;371	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	R	371;371;423;398;396;423;396;371;398;423;396;371;398	ENSP00000392854:K371R;ENSP00000316543:K371R;ENSP00000363617:K423R;ENSP00000363613:K398R;ENSP00000363612:K396R;ENSP00000311293:K423R;ENSP00000411138:K396R;ENSP00000390578:K371R;ENSP00000397751:K398R;ENSP00000406662:K423R;ENSP00000396711:K371R	ENSP00000311293:K423R	K	-	2	0	RAPH1	204030544	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.966000	0.63715	1.990000	0.58119	0.454000	0.30748	AAA		0.373	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		3	132	0	0	0	1	0	3	132				
ZNF608	57507	broad.mit.edu	37	5	123980144	123980144	+	Missense_Mutation	SNP	T	T	C	rs141350098	byFrequency	TCGA-DJ-A3UT-01A-11D-A22D-08	TCGA-DJ-A3UT-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60dea9f-d0f3-4dbc-a1ec-f84242a59705	5f94f80c-57f7-42b3-909e-7b32ed96aa76	g.chr5:123980144T>C	ENST00000306315.5	-	5	4351	c.3916A>G	c.(3916-3918)Atg>Gtg	p.M1306V	ZNF608_ENST00000513985.1_5'Flank|ZNF608_ENST00000504926.1_Missense_Mutation_p.M879V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1306							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTCTCCTCCATTGATTGAGAA	0.478																																						uc003ktq.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(3916-3918)Atg>Gtg		Homo sapiens zinc finger protein 608 (ZNF608), mRNA.		T	VAL/MET	1,4405	2.1+/-5.4	0,1,2202	268.0	260.0	263.0		3916	-6.0	0.0	5	dbSNP_134	263	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF608	NM_020747.2	21	0,2,6501	CC,CT,TT		0.0116,0.0227,0.0154	benign	1306/1513	123980144	2,13004	2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123980144T>C	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3916A>G	5.37:g.123980144T>C	ENSP00000307746:p.Met1306Val		Somatic				ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003ktp.1_Missense_Mutation_p.M1V	p.M1306V	NM_020747	NP_065798	WXS	Illumina GAIIx	Phase_I	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	4099	-		all_cancers(142;0.186)|Prostate(80;0.081)	1306					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.3916A>G	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	T	5.688	0.311559	0.10789	2.27E-4	1.16E-4	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.40476	1.03;1.04	5.76	-5.98	0.02220	.	0.627824	0.17163	N	0.184585	T	0.07458	0.0188	N	0.00538	-1.39	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.37103	-0.9720	9	.	.	.	-2.636	2.2344	0.04004	0.3184:0.3574:0.2004:0.1239	.	1306	Q9ULD9	ZN608_HUMAN	V	879;1306	ENSP00000427657:M879V;ENSP00000307746:M1306V	.	M	-	1	0	ZNF608	124008043	0.000000	0.05858	0.020000	0.16555	0.993000	0.82548	-2.076000	0.01373	-0.509000	0.06532	0.523000	0.50628	ATG		0.478	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		6	317	0	0	0	1	0	6	317				
