#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
GFAP	2670	broad.mit.edu	37	17	42987560	42987560	+	Intron	SNP	C	C	G			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr17:42987560C>G	ENST00000253408.5	-	7	1237				GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.V414L	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein						astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ATTGGTATAACTCGTATTGTG	0.493																																						uc002ihr.3																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(1240-1242)Gtt>Ctt		Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 2, mRNA.							325.0	276.0	291.0					17																	42987560		1568	3582	5150	SO:0001627	intron_variant	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42987560C>G	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.1171+422G>C	17.37:g.42987560C>G			Somatic				GFAP_uc002ihq.3_Intron|GFAP_uc021tyh.1_3'UTR|GFAP_uc021tyg.1_5'Flank	p.V414L	NM_001131019	NP_001124491	WXS	Illumina GAIIx	Phase_I	P14136	GFAP_HUMAN			7	1306	-		Prostate(33;0.0959)	412			Tail.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.1240G>C	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.973818	0.53720	.	.	ENSG00000131095	ENST00000435360	D	0.83992	-1.79	4.78	3.81	0.43845	.	.	.	.	.	T	0.69278	0.3093	N	0.14661	0.345	0.80722	D	1	B	0.21452	0.056	B	0.22152	0.038	T	0.68176	-0.5478	9	0.87932	D	0	.	9.0041	0.36100	0.0:0.902:0.0:0.098	.	414	E9PAX3	.	L	414	ENSP00000403962:V414L	ENSP00000403962:V414L	V	-	1	0	GFAP	40343086	0.999000	0.42202	0.999000	0.59377	0.990000	0.78478	1.683000	0.37638	1.612000	0.50221	0.650000	0.86243	GTT		0.493	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		36	55	0	0	0	1	0	36	55				
ANKRD53	79998	broad.mit.edu	37	2	71206350	71206350	+	Silent	SNP	G	G	A			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:71206350G>A	ENST00000360589.3	+	2	328	c.294G>A	c.(292-294)caG>caA	p.Q98Q	AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000272421.6_Silent_p.Q98Q|ANKRD53_ENST00000457410.1_Silent_p.Q64Q|ANKRD53_ENST00000441349.1_Silent_p.Q64Q	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	98										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						AGTCCGACCAGACGGCAATCG	0.682																																						uc002shl.4																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						c.(292-294)caG>caA		Homo sapiens ankyrin repeat domain 53 (ANKRD53), transcript variant 1, mRNA.							59.0	60.0	59.0					2																	71206350		2202	4298	6500	SO:0001819	synonymous_variant	79998							g.chr2:71206350G>A	BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"""Ankyrin repeat domain containing"""	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.294G>A	2.37:g.71206350G>A			Somatic				ANKRD53_uc002shk.4_Silent_p.Q98Q	p.Q98Q	NM_001115116	NP_001108588	WXS	Illumina GAIIx	Phase_I	Q8N9V6	ANR53_HUMAN			1	495	+			98					Q8IYP8	Silent	SNP	ENST00000360589.3	37	c.294G>A	CCDS46321.1																																																																																				0.682	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933		9	66	0	0	0	1	0	9	66				
HUWE1	10075	broad.mit.edu	37	X	53654447	53654447	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chrX:53654447C>T	ENST00000342160.3	-	16	1860	c.1403G>A	c.(1402-1404)cGa>cAa	p.R468Q	HUWE1_ENST00000218328.8_Missense_Mutation_p.R468Q|HUWE1_ENST00000262854.6_Missense_Mutation_p.R468Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	468					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACATTCTTTTCGGCACAAATC	0.308																																						uc004dsp.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(1402-1404)cGa>cAa		Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.							171.0	144.0	153.0					X																	53654447		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53654447C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1403G>A	X.37:g.53654447C>T	ENSP00000340648:p.Arg468Gln		Somatic					p.R468Q	NM_031407	NP_113584	WXS	Illumina GAIIx	Phase_I	Q7Z6Z7	HUWE1_HUMAN			16	1805	-			468					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.1403G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	c	28.9	4.956474	0.92726	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000396323	T;T;T	0.73363	0.97;0.97;-0.74	4.89	4.89	0.63831	E3 ubiquitin ligase, domain of unknown function DUF913 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.389433	0.22273	N	0.062240	D	0.85270	0.5658	M	0.74881	2.28	0.49687	D	0.999812	D	0.76494	0.999	D	0.68192	0.956	D	0.87234	0.2262	10	0.72032	D	0.01	.	15.999	0.80275	0.0:1.0:0.0:0.0	.	468	Q7Z6Z7	HUWE1_HUMAN	Q	468;468;468;94	ENSP00000340648:R468Q;ENSP00000262854:R468Q;ENSP00000218328:R468Q	ENSP00000218328:R468Q	R	-	2	0	HUWE1	53671172	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.096000	0.76960	2.025000	0.59659	0.534000	0.68092	CGA		0.308	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		27	47	0	0	0	1	0	27	47				
YLPM1	56252	broad.mit.edu	37	14	75265980	75265980	+	Missense_Mutation	SNP	A	A	G			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr14:75265980A>G	ENST00000325680.7	+	5	4104	c.3980A>G	c.(3979-3981)gAt>gGt	p.D1327G	YLPM1_ENST00000238571.3_Missense_Mutation_p.D1132G|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1132					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CGTGAACGGGATATTCCATCT	0.448																																						uc001xqj.4																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(3979-3981)gAt>gGt		Homo sapiens YLP motif containing 1 (YLPM1), mRNA.							141.0	141.0	141.0					14																	75265980		1919	4126	6045	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75265980A>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3980A>G	14.37:g.75265980A>G	ENSP00000324463:p.Asp1327Gly		Somatic				YLPM1_uc001xql.4_Non-coding_Transcript	p.D1327G	NM_019589	NP_062535	WXS	Illumina GAIIx	Phase_I	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	4	4104	+			1132					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	c.3980A>G	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.281637	0.59758	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.97	5.97	0.96955	.	0.080378	0.53938	D	0.000058	T	0.63943	0.2554	L	0.44542	1.39	0.47123	D	0.99932	D	0.59767	0.986	P	0.53912	0.737	T	0.66540	-0.5898	9	0.66056	D	0.02	-10.6323	16.5103	0.84282	1.0:0.0:0.0:0.0	.	1327	P49750-4	.	G	1327;1132;1040	.	ENSP00000238571:D1132G	D	+	2	0	YLPM1	74335733	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.774000	0.75012	2.303000	0.77524	0.439000	0.28862	GAT		0.448	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		5	70	0	0	0	1	0	5	70				
ATG12	9140	broad.mit.edu	37	5	115177236	115177236	+	Missense_Mutation	SNP	G	G	A			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr5:115177236G>A	ENST00000509910.1	-	1	319	c.14C>T	c.(13-15)cCg>cTg	p.P5L	ATG12_ENST00000274459.4_Missense_Mutation_p.P52L|ATG12_ENST00000500945.2_Missense_Mutation_p.P5L|ATG12_ENST00000509598.1_5'Flank|AP3S1_ENST00000316788.7_5'UTR			O94817	ATG12_HUMAN	autophagy related 12	5					autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)	p.P52L(1)		endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		CACAGACTGCGGCTCCTCCGC	0.607																																						uc003krh.3																			1	Substitution - Missense(1)	p.P52L(1)	prostate(1)	endometrium(2)|kidney(1)|lung(1)|prostate(1)	5						c.(13-15)cCg>cTg		Homo sapiens ATG12 autophagy related 12 homolog (S. cerevisiae) (ATG12), transcript variant 1, mRNA.							76.0	85.0	82.0					5																	115177236		2202	4300	6502	SO:0001583	missense	9140				autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding	g.chr5:115177236G>A	AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"""APG12 autophagy 12-like"""	609608	"""Apg12 (autophagy 12, S. cerevisiae)-like"", ""APG12 autophagy 12-like (S. cerevisiae)"", ""ATG12 autophagy related 12 homolog (S. cerevisiae)"""	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.14C>T	5.37:g.115177236G>A	ENSP00000425107:p.Pro5Leu		Somatic				AP3S1_uc003krl.3_5'Flank|AP3S1_uc003krk.3_5'Flank|ATG12_uc021ycr.1_Non-coding_Transcript|ATG12_uc021ycs.1_Non-coding_Transcript|ATG12_uc003kri.3_Missense_Mutation_p.P52L	p.P5L	NM_004707	NP_004698	WXS	Illumina GAIIx	Phase_I	O94817	ATG12_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)	0	313	-		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	5					Q6PJV2	Missense_Mutation	SNP	ENST00000509910.1	37	c.14C>T	CCDS4122.2	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109715	0.56398	.	.	ENSG00000145782	ENST00000274459;ENST00000509910;ENST00000500945	.	.	.	4.87	2.96	0.34315	.	0.956568	0.08681	N	0.909454	T	0.33644	0.0870	L	0.51422	1.61	0.23661	N	0.99718	D;P	0.58268	0.982;0.553	B;B	0.41723	0.365;0.054	T	0.22138	-1.0225	9	0.87932	D	0	-2.7118	8.8274	0.35063	0.0:0.1546:0.6621:0.1832	.	5;52	O94817;C1IDX9	ATG12_HUMAN;.	L	52;5;5	.	ENSP00000274459:P52L	P	-	2	0	ATG12	115205135	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	0.361000	0.20267	1.006000	0.39211	-0.274000	0.10170	CCG		0.607	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250851.3	NM_004707		9	101	0	0	0	1	0	9	101				
SF3B1	23451	broad.mit.edu	37	2	198265531	198265531	+	Missense_Mutation	SNP	T	T	A			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:198265531T>A	ENST00000335508.6	-	18	2717	c.2626A>T	c.(2626-2628)Atg>Ttg	p.M876L	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	876					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAATTACCCATAATTTTCTCA	0.368			Mis		myelodysplastic syndrome																																	uc002uue.3				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2626-2628)Atg>Ttg		Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.							154.0	151.0	152.0					2																	198265531		2202	4299	6501	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding	g.chr2:198265531T>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2626A>T	2.37:g.198265531T>A	ENSP00000335321:p.Met876Leu		Somatic				SNORD2_uc021vul.1_5'Flank	p.M876L	NM_012433	NP_036565	WXS	Illumina GAIIx	Phase_I	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		17	2674	-			876					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2626A>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	16.41	3.114269	0.56505	.	.	ENSG00000115524	ENST00000335508	T	0.61627	0.09	5.61	5.61	0.85477	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	N	0.02379	-0.575	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19484	-1.0304	10	0.44086	T	0.13	.	16.0963	0.81127	0.0:0.0:0.0:1.0	.	876	O75533	SF3B1_HUMAN	L	876	ENSP00000335321:M876L	ENSP00000335321:M876L	M	-	1	0	SF3B1	197973776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.936000	0.87665	2.261000	0.74972	0.533000	0.62120	ATG		0.368	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			17	32	0	0	0	1	0	17	32				
NKIRAS1	28512	broad.mit.edu	37	3	23942418	23942418	+	Missense_Mutation	SNP	T	T	C			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr3:23942418T>C	ENST00000443659.2	-	3	994	c.217A>G	c.(217-219)Aag>Gag	p.K73E	NKIRAS1_ENST00000416026.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000437230.1_Missense_Mutation_p.K73E|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.K73E|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.K73E|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.K73E|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.K73E			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	73	Interactions with NFKBIA and NFKBIB.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						AAATAATGCTTTGGCAGCTCC	0.408																																						uc003cck.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						c.(217-219)Aag>Gag		Homo sapiens NFKB inhibitor interacting Ras-like 1 (NKIRAS1), mRNA.							158.0	153.0	155.0					3																	23942418		2203	4300	6503	SO:0001583	missense	28512				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity	g.chr3:23942418T>C	AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"""NFKB inhibitor interacting Ras-like protein 1"""			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.217A>G	3.37:g.23942418T>C	ENSP00000393785:p.Lys73Glu		Somatic				NKIRAS1_uc003ccj.3_Missense_Mutation_p.K73E	p.K73E	NM_020345	NP_065078	WXS	Illumina GAIIx	Phase_I	Q9NYS0	KBRS1_HUMAN			3	596	-			73			Interactions with NFKBIA and NFKBIB.		Q96K18	Missense_Mutation	SNP	ENST00000443659.2	37	c.217A>G	CCDS33717.1	.	.	.	.	.	.	.	.	.	.	T	18.93	3.728543	0.69074	.	.	ENSG00000197885	ENST00000388759;ENST00000443659;ENST00000421515;ENST00000425478;ENST00000437230;ENST00000412028;ENST00000415901;ENST00000416026	T;T;T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01	5.56	5.56	0.83823	Small GTP-binding protein domain (1);	0.095673	0.64402	D	0.000001	T	0.69242	0.3089	L	0.37630	1.12	0.54753	D	0.99998	P;B	0.39903	0.694;0.368	B;B	0.37387	0.248;0.201	T	0.68481	-0.5397	10	0.28530	T	0.3	-19.7204	15.3773	0.74621	0.0:0.0:0.0:1.0	.	73;73	G5E9P3;Q9NYS0	.;KBRS1_HUMAN	E	73	ENSP00000373411:K73E;ENSP00000393785:K73E;ENSP00000392307:K73E;ENSP00000400385:K73E;ENSP00000406543:K73E;ENSP00000396063:K73E;ENSP00000415225:K73E;ENSP00000394214:K73E	ENSP00000373411:K73E	K	-	1	0	NKIRAS1	23917422	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.946000	0.63576	2.116000	0.64780	0.402000	0.26972	AAG		0.408	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340876.2	NM_020345		6	76	0	0	0	1	0	6	76				
TESPA1	9840	broad.mit.edu	37	12	55356225	55356225	+	Missense_Mutation	SNP	T	T	C			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr12:55356225T>C	ENST00000449076.1	-	9	1589	c.1457A>G	c.(1456-1458)gAc>gGc	p.D486G	TESPA1_ENST00000316577.8_Missense_Mutation_p.D486G|TESPA1_ENST00000531122.1_Missense_Mutation_p.D348G|TESPA1_ENST00000532804.1_Missense_Mutation_p.D348G|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000524622.1_Missense_Mutation_p.D348G	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	486					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											CTCCTCCAAGTCAAAAGTGTC	0.512																																						uc001sgn.3																			0											c.(1456-1458)gAc>gGc		Homo sapiens KIAA0748 (KIAA0748), mRNA.							159.0	160.0	160.0					12																	55356225		1931	4145	6076	SO:0001583	missense	9840							g.chr12:55356225T>C	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1457A>G	12.37:g.55356225T>C	ENSP00000400892:p.Asp486Gly		Somatic				TESPA1_uc001sgl.3_Missense_Mutation_p.D348G|TESPA1_uc001sgm.3_Missense_Mutation_p.D233G|TESPA1_uc010spb.1_Missense_Mutation_p.D233G|TESPA1_uc010spc.1_Missense_Mutation_p.D348G|TESPA1_uc010spd.1_Missense_Mutation_p.D486G	p.D486G	NM_001098815	NP_001092285	WXS	Illumina GAIIx	Phase_I	A2RU30	K0748_HUMAN			8	1567	-			486					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.1457A>G	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	T	6.533	0.466637	0.12402	.	.	ENSG00000135426	ENST00000524622;ENST00000528240;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.59083	0.29;0.29;0.36;0.36;0.29	4.7	4.7	0.59300	.	0.141093	0.32785	N	0.005643	T	0.48840	0.1522	L	0.27053	0.805	0.09310	N	1	P	0.36048	0.534	B	0.42343	0.384	T	0.50355	-0.8838	10	0.59425	D	0.04	-10.3778	10.8387	0.46702	0.0:0.0:0.0:1.0	.	486	A2RU30	K0748_HUMAN	G	348;86;348;486;486;348	ENSP00000435622:D348G;ENSP00000432030:D348G;ENSP00000400892:D486G;ENSP00000312679:D486G;ENSP00000433098:D348G	ENSP00000312679:D486G	D	-	2	0	KIAA0748	53642492	0.021000	0.18746	0.024000	0.17045	0.037000	0.13140	0.902000	0.28459	2.330000	0.79161	0.533000	0.62120	GAC		0.512	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		7	97	0	0	0	1	0	7	97				
OSGIN1	29948	broad.mit.edu	37	16	83998897	83998897	+	Missense_Mutation	SNP	G	G	A			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr16:83998897G>A	ENST00000343939.2	+	7	1351	c.968G>A	c.(967-969)cGc>cAc	p.R323H	OSGIN1_ENST00000393306.1_Missense_Mutation_p.R240H|OSGIN1_ENST00000361711.3_Missense_Mutation_p.R240H			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	323					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CTGTGGGCCCGCAACGTGGTC	0.697																																						uc002fha.3																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(967-969)cGc>cAc		Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.							30.0	35.0	33.0					16																	83998897		2197	4299	6496	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83998897G>A	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.968G>A	16.37:g.83998897G>A	ENSP00000343376:p.Arg323His		Somatic				OSGIN1_uc002fhb.3_Missense_Mutation_p.R240H|OSGIN1_uc002fhc.3_Missense_Mutation_p.R240H	p.R323H	NM_182981	NP_892026	WXS	Illumina GAIIx	Phase_I	Q9UJX0	OSGI1_HUMAN			6	968	+			323					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.968G>A		.	.	.	.	.	.	.	.	.	.	G	12.63	1.995384	0.35226	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.46819	0.86;0.86;0.86	4.8	-1.12	0.09808	.	0.490267	0.22366	N	0.061010	T	0.30479	0.0766	L	0.31476	0.935	0.80722	D	1	B	0.13145	0.007	B	0.06405	0.002	T	0.04635	-1.0937	10	0.40728	T	0.16	-6.2507	9.3331	0.38034	0.6673:0.0:0.3327:0.0	.	323	Q9UJX0	OSGI1_HUMAN	H	323;240;240	ENSP00000343376:R323H;ENSP00000355374:R240H;ENSP00000376983:R240H	ENSP00000343376:R323H	R	+	2	0	OSGIN1	82556398	0.102000	0.21896	0.990000	0.47175	0.967000	0.64934	0.858000	0.27845	-0.213000	0.10094	0.467000	0.42956	CGC		0.697	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		4	55	0	0	0	1	0	4	55				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	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		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	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		20	29	0	0	0	1	0	20	29				
OR2AT4	341152	broad.mit.edu	37	11	74800178	74800178	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr11:74800178C>T	ENST00000305159.3	-	1	621	c.581G>A	c.(580-582)tGc>tAc	p.C194Y		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGTGTCAGAGCAGGAGGCCTG	0.567																																						uc010rro.2																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(580-582)tGc>tAc		Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.							60.0	53.0	56.0					11																	74800178		2200	4293	6493	SO:0001583	missense	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74800178C>T	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.581G>A	11.37:g.74800178C>T	ENSP00000304846:p.Cys194Tyr		Somatic					p.C194Y	NM_001005285	NP_001005285	WXS	Illumina GAIIx	Phase_I	A6NND4	O2AT4_HUMAN			0	581	-			194					B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	c.581G>A	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629862	0.67015	.	.	ENSG00000171561	ENST00000305159	T	0.46451	0.87	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34828	U	0.003651	T	0.71719	0.3373	M	0.91090	3.175	0.48830	D	0.999712	D	0.76494	0.999	D	0.75020	0.985	T	0.78760	-0.2078	10	0.87932	D	0	.	16.7481	0.85478	0.0:1.0:0.0:0.0	.	194	A6NND4	O2AT4_HUMAN	Y	194	ENSP00000304846:C194Y	ENSP00000304846:C194Y	C	-	2	0	OR2AT4	74477826	0.995000	0.38212	1.000000	0.80357	0.965000	0.64279	3.301000	0.51842	2.617000	0.88574	0.650000	0.86243	TGC		0.567	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		8	52	0	0	0	1	0	8	52				
ZNF512B	57473	broad.mit.edu	37	20	62631011	62631011	+	Intron	SNP	C	C	T			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr20:62631011C>T	ENST00000450537.1	-	2	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.H308Y			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAACCCTCATCACCCGCCAGC	0.567																																						uc002yho.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(922-924)Cac>Tac		Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.							95.0	81.0	86.0					20																	62631011		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62631011C>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.5-31703G>A	20.37:g.62631011C>T			Somatic				PRPF6_uc002yhp.3_Missense_Mutation_p.H308Y	p.H308Y	NM_012469	NP_036601	WXS	Illumina GAIIx	Phase_I	O94906	PRP6_HUMAN			7	1090	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		308					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.922C>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834857	0.91036	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.33654	1.4;1.4	5.54	5.54	0.83059	Tetratricopeptide-like helical (1);	0.043393	0.85682	D	0.000000	T	0.65460	0.2693	M	0.93638	3.44	0.80722	D	1	P;P	0.47545	0.526;0.897	B;P	0.53185	0.248;0.72	T	0.73672	-0.3909	10	0.52906	T	0.07	.	19.5492	0.95311	0.0:1.0:0.0:0.0	.	308;308	O94906-2;O94906	.;PRP6_HUMAN	Y	308	ENSP00000266079:H308Y;ENSP00000446216:H308Y	ENSP00000266079:H308Y	H	+	1	0	PRPF6	62101455	1.000000	0.71417	0.997000	0.53966	0.910000	0.53928	7.258000	0.78371	2.621000	0.88768	0.650000	0.86243	CAC		0.567	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		7	75	0	0	0	1	0	7	75				
NDUFS1	4719	broad.mit.edu	37	2	207011657	207011657	+	Missense_Mutation	SNP	T	T	C			TCGA-L6-A4EP-01A-11D-A257-08	TCGA-L6-A4EP-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcd40ca0-653c-4b36-91c8-6679cfc6c65b	13719c80-fb41-4d42-bd4b-bcb4c8503026	g.chr2:207011657T>C	ENST00000233190.6	-	8	973	c.707A>G	c.(706-708)tAt>tGt	p.Y236C	NDUFS1_ENST00000440274.1_Missense_Mutation_p.Y200C|NDUFS1_ENST00000455934.2_Missense_Mutation_p.Y250C|NDUFS1_ENST00000457011.1_Missense_Mutation_p.Y120C|NDUFS1_ENST00000432169.1_Missense_Mutation_p.Y125C|NDUFS1_ENST00000423725.1_Missense_Mutation_p.Y179C|NDUFS1_ENST00000449699.1_Missense_Mutation_p.Y236C	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	236					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTAAAGGCATAGGGCTTAGA	0.363																																						uc010ziq.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(748-750)tAt>tGt		Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	NADH(DB00157)						122.0	107.0	112.0					2																	207011657		2203	4300	6503	SO:0001583	missense	4719				ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding	g.chr2:207011657T>C		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.707A>G	2.37:g.207011657T>C	ENSP00000233190:p.Tyr236Cys		Somatic				NDUFS1_uc002vbe.3_Missense_Mutation_p.Y236C|NDUFS1_uc010zir.2_Missense_Mutation_p.Y200C|NDUFS1_uc010zis.2_Missense_Mutation_p.Y179C|NDUFS1_uc010zit.2_Missense_Mutation_p.Y125C|NDUFS1_uc010ziu.2_Missense_Mutation_p.Y120C	p.Y250C	NM_001199984	NP_001186913	WXS	Illumina GAIIx	Phase_I	P28331	NDUS1_HUMAN			7	810	-			236					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	c.749A>G	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469212	0.84533	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.95281	0.8469	H	0.97732	4.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.986;0.968;0.968	D	0.96939	0.9686	10	0.87932	D	0	-23.7092	16.1063	0.81225	0.0:0.0:0.0:1.0	.	125;200;250;236	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	C	236;179;120;200;250;236;125	ENSP00000233190:Y236C;ENSP00000397760:Y179C;ENSP00000400976:Y120C;ENSP00000409766:Y200C;ENSP00000392709:Y250C;ENSP00000399912:Y236C;ENSP00000409689:Y125C	ENSP00000233190:Y236C	Y	-	2	0	NDUFS1	206719902	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.040000	0.89188	2.197000	0.70478	0.533000	0.62120	TAT		0.363	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		8	63	0	0	0	1	0	8	63				
