#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
OR10R2	343406	broad.mit.edu	37	1	158449980	158449980	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr1:158449980C>G	ENST00000368152.1	+	1	313	c.313C>G	c.(313-315)Cta>Gta	p.L105V	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L105V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GCTCATCAATCTACTTTCTGT	0.438																																						ENST00000368152.1																			1	Substitution - Missense(1)	p.L105V(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(313-315)Cta>Gta		olfactory receptor, family 10, subfamily R, member 2							343.0	291.0	309.0					1																	158449980		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158449980C>G	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.313C>G	1.37:g.158449980C>G	ENSP00000357134:p.Leu105Val		Somatic				RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	p.L105V	NM_001004472.1	NP_001004472.1	WXS	Illumina GAIIx	Phase_I	Q8NGX6	O10R2_HUMAN			1	313	+	all_hematologic(112;0.0378)		105					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.313C>G	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	c	14.67	2.604739	0.46423	.	.	ENSG00000198965	ENST00000368152	T	0.00408	7.54	4.28	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00580	0.0019	M	0.89214	3.015	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.43637	-0.9379	9	0.87932	D	0	.	8.4331	0.32771	0.0:0.8078:0.0:0.1922	.	105	Q8NGX6	O10R2_HUMAN	V	105	ENSP00000357134:L105V	ENSP00000357134:L105V	L	+	1	2	OR10R2	156716604	0.000000	0.05858	0.066000	0.19879	0.996000	0.88848	-0.697000	0.05098	0.981000	0.38548	0.655000	0.94253	CTA		0.438	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		6	603	6	603	---	---	---	---
FMOD	2331	broad.mit.edu	37	1	203316790	203316790	+	Silent	SNP	C	C	T	rs374060031		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr1:203316790C>T	ENST00000354955.4	-	2	1072	c.609G>A	c.(607-609)acG>acA	p.T203T	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	203					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.T203T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGTACAAGGCCGTGAGGTTCT	0.582																																						ENST00000354955.4																			1	Substitution - coding silent(1)	p.T203T(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(607-609)acG>acA		fibromodulin		C		1,4405	2.1+/-5.4	0,1,2202	112.0	112.0	112.0		609	-10.4	0.1	1		112	0,8600		0,0,4300	no	coding-synonymous	FMOD	NM_002023.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		203/377	203316790	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2331				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		g.chr1:203316790C>T	U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.609G>A	1.37:g.203316790C>T			Somatic				FMOD_ENST00000493296.1_Intron	p.T203T	NM_002023.4	NP_002014.2	WXS	Illumina GAIIx	Phase_I	Q06828	FMOD_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.171)		2	1072	-			203					Q15331|Q8IV47	Silent	SNP	ENST00000354955.4	37	c.609G>A	CCDS30976.1	.	.	.	.	.	.	.	.	.	.	C	3.726	-0.056527	0.07362	2.27E-4	0.0	ENSG00000122176	ENST00000539467	.	.	.	5.18	-10.4	0.00318	.	.	.	.	.	T	0.61048	0.2316	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77515	-0.2559	5	0.56958	D	0.05	-18.9309	10.3996	0.44222	0.0791:0.5638:0.1607:0.1964	.	.	.	.	Q	182	.	ENSP00000438680:R182Q	R	-	2	0	FMOD	201583413	0.000000	0.05858	0.145000	0.22337	0.812000	0.45895	-8.119000	0.00024	-3.403000	0.00170	-1.004000	0.02495	CGG		0.582	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1	NM_002023		73	242	73	242	---	---	---	---
ITGB6	3694	broad.mit.edu	37	2	160994176	160994176	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:160994176C>A	ENST00000283249.2	-	10	1666	c.1429G>T	c.(1429-1431)Ggg>Tgg	p.G477W	ITGB6_ENST00000409967.2_Missense_Mutation_p.G477W|ITGB6_ENST00000409872.1_Missense_Mutation_p.G477W|ITGB6_ENST00000428609.2_Missense_Mutation_p.G435W	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	477	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)	p.G477W(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GCACACACCCCACACTGGAAA	0.572																																						ENST00000283249.2																			2	Substitution - Missense(2)	p.G477W(2)	prostate(2)	breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1429-1431)Ggg>Tgg		integrin, beta 6							69.0	50.0	57.0					2																	160994176		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160994176C>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1429G>T	2.37:g.160994176C>A	ENSP00000283249:p.Gly477Trp		Somatic				ITGB6_ENST00000409967.2_Missense_Mutation_p.G477W|ITGB6_ENST00000409872.1_Missense_Mutation_p.G477W|ITGB6_ENST00000428609.2_Missense_Mutation_p.G435W	p.G477W	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	WXS	Illumina GAIIx	Phase_I	P18564	ITB6_HUMAN			10	1666	-			477			Cysteine-rich tandem repeats.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.1429G>T	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618527	0.87359	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.87775	0.6262	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92010	0.5617	10	0.87932	D	0	.	19.5146	0.95157	0.0:1.0:0.0:0.0	.	435;477	E9PEE8;P18564	.;ITB6_HUMAN	W	477;435;477;477	ENSP00000283249:G477W;ENSP00000408024:G435W;ENSP00000386828:G477W;ENSP00000386367:G477W	ENSP00000283249:G477W	G	-	1	0	ITGB6	160702422	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.776000	0.85560	2.690000	0.91761	0.655000	0.94253	GGG		0.572	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		4	92	4	92	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179444120	179444120	+	Splice_Site	SNP	A	A	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:179444120A>T	ENST00000591111.1	-	270	62938	c.62714T>A	c.(62713-62715)gTg>gAg	p.V20905E	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.V13606E|TTN_ENST00000460472.2_Splice_Site_p.V13481E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.V13673E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.V19978E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000589042.1_Splice_Site_p.V22546E|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20905	Fibronectin type-III 51. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Ig-like 112.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V13481E(2)|p.V19976E(1)|p.V13606E(1)|p.V19978E(1)|p.V13673E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAGGAGCCACTGTAAAATA	0.378																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.V13481E(2)|p.V19976E(1)|p.V13606E(1)|p.V19978E(1)|p.V13673E(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(67636-67638)gTg>gAg		titin							35.0	34.0	34.0					2																	179444120		1840	4079	5919	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179444120A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62714-1T>A	2.37:g.179444120A>T			Somatic				TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.V13606E|TTN_ENST00000460472.2_Splice_Site_p.V13481E|TTN_ENST00000342992.6_Splice_Site_p.V19978E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Splice_Site_p.V20905E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.V13673E|TTN-AS1_ENST00000590932.1_RNA	p.V22546E	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		320	67861	-			20905			Fibronectin type-III 63.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Splice_Site	SNP	ENST00000591111.1	37	c.67637T>A		.	.	.	.	.	.	.	.	.	.	A	12.50	1.955618	0.34471	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65732	-0.17;0.02;0.01;-0.01	5.68	5.68	0.88126	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49236	0.1545	N	0.20986	0.625	0.58432	D	0.99999	P;P;P;P	0.50272	0.883;0.883;0.883;0.933	B;B;B;B	0.41860	0.368;0.368;0.368;0.368	T	0.56950	-0.7894	9	0.87932	D	0	.	12.0543	0.53524	0.9307:0.0:0.0693:0.0	.	13481;13606;13673;20905	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	19978;13481;13673;13606;13479	ENSP00000343764:V19978E;ENSP00000434586:V13481E;ENSP00000340554:V13673E;ENSP00000352154:V13606E	ENSP00000340554:V13673E	V	-	2	0	TTN	179152366	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.433000	0.80362	2.284000	0.76573	0.533000	0.62120	GTG		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Missense_Mutation	4	76	4	76	---	---	---	---
AOX1	316	broad.mit.edu	37	2	201468741	201468741	+	Splice_Site	SNP	C	C	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:201468741C>A	ENST00000374700.2	+	8	831	c.590C>A	c.(589-591)aCa>aAa	p.T197K		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	197					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.T197K(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCTTTTTAGACAAGTCCAAAA	0.383																																						ENST00000374700.2																			1	Substitution - Missense(1)	p.T197K(1)	prostate(1)	breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(589-591)aCa>aAa		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						65.0	65.0	65.0					2																	201468741		2203	4300	6503	SO:0001630	splice_region_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201468741C>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.589-1C>A	2.37:g.201468741C>A			Somatic					p.T197K	NM_001159.3	NP_001150.3	WXS	Illumina GAIIx	Phase_I	Q06278	ADO_HUMAN			8	831	+			197					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Splice_Site	SNP	ENST00000374700.2	37	c.590C>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.788435	0.00628	.	.	ENSG00000138356	ENST00000374700	T	0.53857	0.6	5.46	1.74	0.24563	[2Fe-2S]-binding (2);	0.671285	0.14912	N	0.291178	T	0.41282	0.1152	M	0.67700	2.07	0.23107	N	0.998289	B	0.14012	0.009	B	0.14578	0.011	T	0.39820	-0.9595	10	0.05959	T	0.93	-6.6264	5.5637	0.17158	0.1246:0.4692:0.0:0.4062	.	197	Q06278	ADO_HUMAN	K	197	ENSP00000363832:T197K	ENSP00000363832:T197K	T	+	2	0	AOX1	201176986	0.000000	0.05858	0.152000	0.22495	0.016000	0.09150	-0.286000	0.08399	0.145000	0.18977	-0.150000	0.13652	ACA		0.383	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	Missense_Mutation	10	146	10	146	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209190217	209190217	+	Missense_Mutation	SNP	G	G	T	rs139157818	byFrequency	TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:209190217G>T	ENST00000264380.4	+	20	2840	c.2682G>T	c.(2680-2682)gaG>gaT	p.E894D		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	894					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.E894D(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CCCTGATTGAGGGACGAGGGC	0.493																																						ENST00000264380.4																			2	Substitution - Missense(2)	p.E894D(2)	prostate(2)	NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(2680-2682)gaG>gaT		phosphoinositide kinase, FYVE finger containing							107.0	105.0	106.0					2																	209190217		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190217G>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2682G>T	2.37:g.209190217G>T	ENSP00000264380:p.Glu894Asp		Somatic					p.E894D	NM_015040.3	NP_055855.2	WXS	Illumina GAIIx	Phase_I	Q9Y2I7	FYV1_HUMAN			20	2840	+			894					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.2682G>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463971	0.26335	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.31510	1.49;1.74	6.07	2.99	0.34606	.	0.143287	0.46145	N	0.000306	T	0.41880	0.1178	M	0.67953	2.075	0.80722	D	1	B;D	0.58268	0.022;0.982	B;D	0.67548	0.011;0.952	T	0.44817	-0.9303	10	0.13853	T	0.58	-19.5159	4.6078	0.12387	0.2843:0.0:0.5558:0.1599	.	894;838	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	D	894;470;838	ENSP00000264380:E894D;ENSP00000405736:E838D	ENSP00000264380:E894D	E	+	3	2	PIKFYVE	208898462	1.000000	0.71417	0.997000	0.53966	0.046000	0.14306	1.140000	0.31516	0.922000	0.37019	-0.133000	0.14855	GAG		0.493	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		5	262	5	262	---	---	---	---
LNX1	84708	broad.mit.edu	37	4	54424152	54424152	+	Intron	SNP	C	C	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr4:54424152C>A	ENST00000263925.7	-	2	695				LNX1_ENST00000306888.2_De_novo_Start_InFrame|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase						protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGTGTGCTGCCTTCTCCCTGG	0.527																																						ENST00000306888.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32								ligand of numb-protein X 1, E3 ubiquitin protein ligase							107.0	94.0	98.0					4																	54424152		2203	4300	6503	SO:0001627	intron_variant	84708					cytoplasm	zinc ion binding	g.chr4:54424152C>A	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.380+15637G>T	4.37:g.54424152C>A			Somatic				FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Intron		NM_032622.2	NP_116011.2	WXS	Illumina GAIIx	Phase_I	Q8TBB1	LNX1_HUMAN	GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)		0	232	-	all_neural(26;0.153)							Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Translation_Start_Site	SNP	ENST00000263925.7	37		CCDS47057.1																																																																																				0.527	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			3	49	3	49	---	---	---	---
ZGRF1	55345	broad.mit.edu	37	4	113468559	113468559	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr4:113468559T>C	ENST00000505019.1	-	24	5605	c.5480A>G	c.(5479-5481)gAg>gGg	p.E1827G	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1827						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.E1827G(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTTTTCACACTCAAACCTAAA	0.348																																						ENST00000505019.1																			1	Substitution - Missense(1)	p.E1827G(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(5479-5481)gAg>gGg		chromosome 4 open reading frame 21							65.0	60.0	62.0					4																	113468559		2203	4300	6503	SO:0001583	missense	55345							g.chr4:113468559T>C																												ENST00000505019.1:c.5480A>G	4.37:g.113468559T>C	ENSP00000424737:p.Glu1827Gly		Somatic					p.E1827G	NM_018392.4	NP_060862.3	WXS	Illumina GAIIx	Phase_I	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	24	5605	-		Ovarian(17;0.156)	0					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.5480A>G		.	.	.	.	.	.	.	.	.	.	T	18.12	3.552596	0.65425	.	.	ENSG00000138658	ENST00000505019	T	0.79749	-1.3	5.93	5.93	0.95920	.	0.306220	0.31897	N	0.006888	T	0.54287	0.1849	N	0.00608	-1.33	0.80722	D	1	B;B	0.24768	0.111;0.001	B;B	0.22753	0.041;0.002	T	0.58526	-0.7621	10	0.21014	T	0.42	-19.5403	16.3766	0.83401	0.0:0.0:0.0:1.0	.	1827;285	G5EA02;B3KQX2	.;.	G	1827	ENSP00000424737:E1827G	ENSP00000424737:E1827G	E	-	2	0	C4orf21	113688008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.475000	0.35409	2.263000	0.75096	0.533000	0.62120	GAG		0.348	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			4	54	4	54	---	---	---	---
HIST1H2BN	8341	broad.mit.edu	37	6	27806476	27806476	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr6:27806476A>C	ENST00000396980.3	+	1	37	c.37A>C	c.(37-39)Aaa>Caa	p.K13Q	HIST1H2BN_ENST00000606613.1_Missense_Mutation_p.K13Q|HIST1H2AK_ENST00000330180.2_5'Flank	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	13					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K13Q(1)		central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						TGCCCCGAAGAAAGGCTCCAA	0.552																																						ENST00000606613.1																			1	Substitution - Missense(1)	p.K13Q(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						c.(37-39)Aaa>Caa		histone cluster 1, H2bn							97.0	100.0	99.0					6																	27806476		2203	4300	6503	SO:0001583	missense	8341				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27806476A>C	Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"""Histones / Replication-dependent"""	4749	protein-coding gene	gene with protein product		602801	"""H2B histone family, member D"", ""histone 1, H2bn"""	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.37A>C	6.37:g.27806476A>C	ENSP00000380177:p.Lys13Gln		Somatic				HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.K13Q	p.K13Q			WXS	Illumina GAIIx	Phase_I	Q99877	H2B1N_HUMAN			1	98	+			13					B2R5L4|Q494S8|Q96FB7	Missense_Mutation	SNP	ENST00000396980.3	37	c.37A>C	CCDS4633.1	.	.	.	.	.	.	.	.	.	.	.	9.854	1.194442	0.22037	.	.	ENSG00000233822	ENST00000449538;ENST00000396980	T;T	0.25414	1.8;1.8	4.75	3.55	0.40652	Histone-fold (2);	0.000000	0.31784	U	0.007066	T	0.21631	0.0521	M	0.92367	3.3	0.25474	N	0.987799	B;B	0.20887	0.0;0.049	B;B	0.11329	0.0;0.006	T	0.32666	-0.9898	10	0.72032	D	0.01	.	11.2321	0.48918	0.8459:0.154:0.0:0.0	.	13;13	Q99877;B2R4S9	H2B1N_HUMAN;.	Q	13	ENSP00000446031:K13Q;ENSP00000380177:K13Q	ENSP00000380177:K13Q	K	+	1	0	HIST1H2BN	27914455	1.000000	0.71417	0.998000	0.56505	0.538000	0.34931	4.615000	0.61190	0.861000	0.35504	0.533000	0.62120	AAA		0.552	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043840.2	NM_003520		5	201	5	201	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69348738	69348738	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr6:69348738G>T	ENST00000370598.1	+	3	992	c.171G>T	c.(169-171)tgG>tgT	p.W57C		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	57	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W57C(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACTGCACTTGGACGCTGGAAA	0.393																																						ENST00000370598.1																			2	Substitution - Missense(2)	p.W57C(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(169-171)tgG>tgT		brain-specific angiogenesis inhibitor 3							73.0	76.0	75.0					6																	69348738		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69348738G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.171G>T	6.37:g.69348738G>T	ENSP00000359630:p.Trp57Cys		Somatic					p.W57C	NM_001704.2	NP_001695	WXS	Illumina GAIIx	Phase_I	O60242	BAI3_HUMAN			3	992	+		all_lung(197;0.212)	57			CUB.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.171G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.068964	0.55539	.	.	ENSG00000135298	ENST00000370598	T	0.70869	-0.52	5.49	5.49	0.81192	CUB (1);	0.000000	0.64402	D	0.000001	T	0.80076	0.4557	L	0.57536	1.79	0.80722	D	1	D	0.69078	0.997	D	0.72338	0.977	T	0.80924	-0.1165	10	0.87932	D	0	.	19.7289	0.96175	0.0:0.0:1.0:0.0	.	57	O60242	BAI3_HUMAN	C	57	ENSP00000359630:W57C	ENSP00000359630:W57C	W	+	3	0	BAI3	69405459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.737000	0.93849	0.650000	0.86243	TGG		0.393	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			5	226	5	226	---	---	---	---
EFCAB1	79645	broad.mit.edu	37	8	49641698	49641698	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr8:49641698T>C	ENST00000262103.3	-	5	559	c.479A>G	c.(478-480)gAc>gGc	p.D160G	EFCAB1_ENST00000433756.1_Missense_Mutation_p.D108G|EFCAB1_ENST00000523092.1_Missense_Mutation_p.D108G|EFCAB1_ENST00000521002.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	160	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.D160G(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CCCATCATGGTCATGATCCTA	0.408																																						ENST00000433756.1																			1	Substitution - Missense(1)	p.D160G(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14						c.(322-324)gAc>gGc		EF-hand calcium binding domain 1							111.0	94.0	100.0					8																	49641698		2203	4300	6503	SO:0001583	missense	79645						calcium ion binding	g.chr8:49641698T>C		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.479A>G	8.37:g.49641698T>C	ENSP00000262103:p.Asp160Gly		Somatic				EFCAB1_ENST00000262103.3_Missense_Mutation_p.D160G|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Missense_Mutation_p.D108G	p.D108G	NM_001142857.1	NP_001136329.1	WXS	Illumina GAIIx	Phase_I	Q9HAE3	EFCB1_HUMAN			4	482	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	160			EF-hand 2.		B4DSB4|E7EVN7	Missense_Mutation	SNP	ENST00000262103.3	37	c.323A>G	CCDS6145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.4|22.4	4.288960|4.288960	0.80914|0.80914	.|.	.|.	ENSG00000034239|ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092|ENST00000523008;ENST00000522254	T;T;T|.	0.75821|.	-0.97;-0.97;-0.97|.	5.09|5.09	5.09|5.09	0.68999|0.68999	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87107|.	0.6095|.	H|H	0.96633|0.96633	3.855|3.855	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.996|.	D|.	0.90859|.	0.4737|.	9|.	.|.	.|.	.|.	.|.	12.8684|12.8684	0.57951|0.57951	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	108;160|.	Q9HAE3-2;Q9HAE3|.	.;EFCB1_HUMAN|.	G|W	108;160;160;108|26;77	ENSP00000400873:D108G;ENSP00000262103:D160G;ENSP00000430765:D108G|.	.|.	D|X	-|-	2|3	0|0	EFCAB1|EFCAB1	49804251|49804251	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.893000|0.893000	0.52053|0.52053	7.560000|7.560000	0.82277|0.82277	2.134000|2.134000	0.65973|0.65973	0.374000|0.374000	0.22700|0.22700	GAC|TGA		0.408	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		3	151	3	151	---	---	---	---
KRTAP5-9	3846	broad.mit.edu	37	11	71259894	71259894	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr11:71259894C>T	ENST00000528743.2	+	1	429	c.191C>T	c.(190-192)tCc>tTc	p.S64F		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	64	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)		p.S64F(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GGCTGTGGCTCCTGTGGGGGC	0.632																																						ENST00000528743.2																			1	Substitution - Missense(1)	p.S64F(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						c.(190-192)tCc>tTc		keratin associated protein 5-9							101.0	117.0	111.0					11																	71259894		2200	4293	6493	SO:0001583	missense	3846				epidermis development	keratin filament		g.chr11:71259894C>T	AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"""Keratin associated proteins"""	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.191C>T	11.37:g.71259894C>T	ENSP00000431443:p.Ser64Phe		Somatic					p.S64F	NM_005553.3	NP_005544.4	WXS	Illumina GAIIx	Phase_I	P26371	KRA59_HUMAN			1	429	+			64			8 X 4 AA repeats of C-C-X-P.		Q14564|Q3MIP8	Missense_Mutation	SNP	ENST00000528743.2	37	c.191C>T	CCDS53677.1	.	.	.	.	.	.	.	.	.	.	N	3.767	-0.048487	0.07407	.	.	ENSG00000254997	ENST00000528743	T	0.04317	3.65	1.21	1.21	0.21127	.	.	.	.	.	T	0.21509	0.0518	M	0.91510	3.215	0.23376	N	0.997801	D	0.65815	0.995	D	0.63381	0.914	T	0.02581	-1.1138	9	0.62326	D	0.03	.	8.3609	0.32359	0.0:1.0:0.0:0.0	.	64	P26371	KRA59_HUMAN	F	64	ENSP00000431443:S64F	ENSP00000431443:S64F	S	+	2	0	KRTAP5-9	70937542	0.832000	0.29368	0.987000	0.45799	0.076000	0.17211	-0.079000	0.11357	0.987000	0.38709	0.442000	0.29010	TCC		0.632	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			6	211	6	211	---	---	---	---
R3HDM2	22864	broad.mit.edu	37	12	57662763	57662763	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr12:57662763C>A	ENST00000347140.3	-	17	2165	c.1775G>T	c.(1774-1776)aGc>aTc	p.S592I	R3HDM2_ENST00000413953.2_Missense_Mutation_p.S319I|R3HDM2_ENST00000403821.2_Missense_Mutation_p.S626I|R3HDM2_ENST00000402412.1_Missense_Mutation_p.S606I|R3HDM2_ENST00000441731.2_Missense_Mutation_p.S287I|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S592I|R3HDM2_ENST00000546843.1_5'Flank|RP11-123K3.4_ENST00000548184.1_3'UTR			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	592	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S253I(1)|p.S592I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCCCCCCATGCTGCTCCTCTG	0.587																																						ENST00000402412.1																			2	Substitution - Missense(2)	p.S253I(1)|p.S592I(1)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1816-1818)aGc>aTc		R3H domain containing 2							111.0	106.0	107.0					12																	57662763		2203	4300	6503	SO:0001583	missense	22864					nucleus	nucleic acid binding	g.chr12:57662763C>A	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1775G>T	12.37:g.57662763C>A	ENSP00000317903:p.Ser592Ile		Somatic				R3HDM2_ENST00000403821.2_Missense_Mutation_p.S626I|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000347140.3_Missense_Mutation_p.S592I|R3HDM2_ENST00000441731.2_Missense_Mutation_p.S287I|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S592I|R3HDM2_ENST00000413953.2_Missense_Mutation_p.S319I	p.S606I			WXS	Illumina GAIIx	Phase_I	Q9Y2K5	R3HD2_HUMAN			17	2207	-			592			Gln-rich.		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	c.1817G>T	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	C	18.17	3.565174	0.65651	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821	T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.07	3.21	0.36854	.	0.341865	0.38164	N	0.001798	T	0.32133	0.0819	L	0.39898	1.24	0.32805	D	0.50063	P;P;P;P	0.48503	0.877;0.641;0.468;0.911	B;B;B;B	0.42422	0.276;0.216;0.216;0.387	T	0.46898	-0.9158	10	0.54805	T	0.06	-0.8964	6.8321	0.23915	0.0:0.6899:0.1484:0.1617	.	626;606;592;319	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	I	319;319;592;606;592;287;357;626	ENSP00000409146:S319I;ENSP00000377400:S319I;ENSP00000317903:S592I;ENSP00000385839:S606I;ENSP00000351784:S592I;ENSP00000408536:S287I;ENSP00000394676:S357I;ENSP00000385169:S626I	ENSP00000317903:S592I	S	-	2	0	R3HDM2	55949030	0.879000	0.30193	1.000000	0.80357	0.995000	0.86356	0.485000	0.22324	0.819000	0.34492	0.655000	0.94253	AGC		0.587	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		5	255	5	255	---	---	---	---
METTL3	56339	broad.mit.edu	37	14	21969230	21969230	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr14:21969230C>G	ENST00000298717.4	-	5	1092	c.941G>C	c.(940-942)tGc>tCc	p.C314S	METTL3_ENST00000538267.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	314					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.C314S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		AAGGAAAGAGCAGTCACCTAA	0.413																																						ENST00000298717.4																			1	Substitution - Missense(1)	p.C314S(1)	prostate(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(940-942)tGc>tCc		methyltransferase like 3							72.0	71.0	72.0					14																	21969230		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21969230C>G	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.941G>C	14.37:g.21969230C>G	ENSP00000298717:p.Cys314Ser		Somatic				METTL3_ENST00000538267.1_3'UTR	p.C314S	NM_019852.3	NP_062826.2	WXS	Illumina GAIIx	Phase_I	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	5	1092	-	all_cancers(95;0.000628)		314					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.941G>C	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490633	0.84962	.	.	ENSG00000165819	ENST00000298717	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.84506	0.5487	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86787	0.1983	9	0.87932	D	0	-8.1129	17.9303	0.88994	0.0:1.0:0.0:0.0	.	314	Q86U44	MTA70_HUMAN	S	314	.	ENSP00000298717:C314S	C	-	2	0	METTL3	21039070	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.999000	0.76283	2.760000	0.94817	0.655000	0.94253	TGC		0.413	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		3	137	3	137	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25486926	25486926	+	RNA	SNP	G	G	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr15:25486926G>T	ENST00000453082.2	+	0	2156				SNORD115-39_ENST00000363694.1_RNA|SNORD115-38_ENST00000365037.1_RNA|SNORD115-40_ENST00000606510.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTGTCCTGAAGAGAGGTGATG	0.478																																						ENST00000453082.2																			0																				363.0	368.0	367.0					15																	25486926		876	1991	2867			104472715							g.chr15:25486926G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25486926G>T			Somatic				SNORD115-39_ENST00000363694.1_RNA		NR_003343.1		WXS	Illumina GAIIx	Phase_I					0	2156	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.478	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			11	536	11	536	---	---	---	---
ADAM10	102	broad.mit.edu	37	15	58902623	58902623	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr15:58902623T>C	ENST00000260408.3	-	14	2341	c.1898A>G	c.(1897-1899)aAc>aGc	p.N633S	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.N332S|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	633	Cys-rich.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.N633S(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TCTAAAATCGTTGCAAGGGGA	0.478																																						ENST00000260408.3																			1	Substitution - Missense(1)	p.N633S(1)	prostate(1)	breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(1897-1899)aAc>aGc		ADAM metallopeptidase domain 10							112.0	104.0	107.0					15																	58902623		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58902623T>C	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1898A>G	15.37:g.58902623T>C	ENSP00000260408:p.Asn633Ser		Somatic				ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.N332S|ADAM10_ENST00000561288.1_Intron	p.N633S	NM_001110.2	NP_001101.1	WXS	Illumina GAIIx	Phase_I	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	14	2341	-			633			Cys-rich.		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.1898A>G	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.842622	0.91197	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	T;T	0.26067	1.76;3.06	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.25606	0.0623	M	0.64997	1.995	0.80722	D	1	P;B;P	0.38551	0.636;0.45;0.636	B;B;B	0.30855	0.121;0.084;0.084	T	0.04961	-1.0915	10	0.31617	T	0.26	-32.899	15.6683	0.77252	0.0:0.0:0.0:1.0	.	332;452;633	B4DU28;A8MY20;O14672	.;.;ADA10_HUMAN	S	633;452;332	ENSP00000260408:N633S;ENSP00000379444:N332S	ENSP00000260408:N633S	N	-	2	0	ADAM10	56689915	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.655000	0.83696	2.154000	0.67381	0.533000	0.62120	AAC		0.478	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		5	161	5	161	---	---	---	---
CEMIP	57214	broad.mit.edu	37	15	81234649	81234649	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr15:81234649C>T	ENST00000394685.3	+	27	4089	c.3670C>T	c.(3670-3672)Cac>Tac	p.H1224Y	KIAA1199_ENST00000220244.3_Missense_Mutation_p.H1224Y|KIAA1199_ENST00000356249.5_Missense_Mutation_p.H1224Y|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		1224					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.H1224Y(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCACTTCTTCCACCTCTGGAA	0.478																																						ENST00000394685.3																			1	Substitution - Missense(1)	p.H1224Y(1)	prostate(1)	breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3670-3672)Cac>Tac		KIAA1199							100.0	97.0	98.0					15																	81234649		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81234649C>T																												ENST00000394685.3:c.3670C>T	15.37:g.81234649C>T	ENSP00000378177:p.His1224Tyr		Somatic				KIAA1199_ENST00000220244.3_Missense_Mutation_p.H1224Y|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.H1224Y	p.H1224Y			WXS	Illumina GAIIx	Phase_I	Q8WUJ3	K1199_HUMAN			27	4089	+			1224					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.3670C>T	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451349	0.84209	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249	T;T;T	0.65732	-0.17;-0.17;-0.17	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.79787	0.4506	M	0.69823	2.125	0.54753	D	0.999989	D	0.69078	0.997	D	0.75484	0.986	T	0.78748	-0.2083	10	0.52906	T	0.07	-38.7501	20.2207	0.98324	0.0:1.0:0.0:0.0	.	1224	Q8WUJ3	K1199_HUMAN	Y	1224	ENSP00000220244:H1224Y;ENSP00000378177:H1224Y;ENSP00000348583:H1224Y	ENSP00000220244:H1224Y	H	+	1	0	KIAA1199	79021704	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	6.747000	0.74872	2.790000	0.95986	0.591000	0.81541	CAC		0.478	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			47	173	47	173	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11790187	11790187	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr17:11790187G>A	ENST00000262442.4	+	57	11085	c.11017G>A	c.(11017-11019)Gag>Aag	p.E3673K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E3673K|DNAH9_ENST00000608377.1_5'UTR|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3673					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E3673K(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGAGGCCCGAGAGCACTACCG	0.527																																						ENST00000262442.4																			1	Substitution - Missense(1)	p.E3673K(1)	prostate(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(11017-11019)Gag>Aag		dynein, axonemal, heavy chain 9							93.0	81.0	85.0					17																	11790187		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11790187G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11017G>A	17.37:g.11790187G>A	ENSP00000262442:p.Glu3673Lys		Somatic				DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.E3673K|DNAH9_ENST00000608377.1_5'UTR	p.E3673K	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	57	11085	+		Breast(5;0.0122)|all_epithelial(5;0.131)						A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.11017G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	36	5.793065	0.96952	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000361801	D;D	0.87412	-2.25;-2.25	5.33	5.33	0.75918	.	0.096519	0.64402	D	0.000001	D	0.93488	0.7922	M	0.88842	2.985	0.80722	D	1	D;D	0.62365	0.978;0.991	P;P	0.56563	0.53;0.801	D	0.94359	0.7586	10	0.87932	D	0	.	19.2213	0.93797	0.0:0.0:1.0:0.0	.	26;3673	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	K	3673;3673;2255;26	ENSP00000262442:E3673K;ENSP00000414874:E3673K	ENSP00000262442:E3673K	E	+	1	0	DNAH9	11730912	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	9.601000	0.98297	2.775000	0.95449	0.655000	0.94253	GAG		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		7	180	7	180	---	---	---	---
LLGL1	3996	broad.mit.edu	37	17	18137336	18137336	+	Silent	SNP	C	C	T	rs374218881		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr17:18137336C>T	ENST00000316843.4	+	6	657	c.561C>T	c.(559-561)gaC>gaT	p.D187D		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	187					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)	p.D187D(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCGTGCCAGACGACTACCGCT	0.652																																						ENST00000316843.4																			2	Substitution - coding silent(2)	p.D187D(2)	prostate(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(559-561)gaC>gaT		lethal giant larvae homolog 1 (Drosophila)		C		0,4406		0,0,2203	27.0	31.0	30.0		561	-11.7	0.0	17		30	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	LLGL1	NM_004140.3		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		187/1065	18137336	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	3996				cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	g.chr17:18137336C>T		CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.561C>T	17.37:g.18137336C>T			Somatic					p.D187D	NM_004140.3	NP_004131	WXS	Illumina GAIIx	Phase_I	Q15334	L2GL1_HUMAN			6	657	+	all_neural(463;0.228)		187					A7MBM7|O00188|Q58F11|Q86UK6	Silent	SNP	ENST00000316843.4	37	c.561C>T	CCDS32586.1																																																																																				0.652	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			5	32	5	32	---	---	---	---
KIAA0355	9710	broad.mit.edu	37	19	34818760	34818760	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:34818760G>A	ENST00000299505.6	+	5	1804	c.931G>A	c.(931-933)Gca>Aca	p.A311T		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	311								p.A311T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGCGATTGAAGCAAGTTTGCA	0.453																																						ENST00000299505.6																			1	Substitution - Missense(1)	p.A311T(1)	prostate(1)	breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(931-933)Gca>Aca		KIAA0355							85.0	92.0	90.0					19																	34818760		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34818760G>A		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.931G>A	19.37:g.34818760G>A	ENSP00000299505:p.Ala311Thr		Somatic					p.A311T	NM_014686.3	NP_055501.2	WXS	Illumina GAIIx	Phase_I	O15063	K0355_HUMAN			5	1804	+	Esophageal squamous(110;0.162)		311					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.931G>A	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817855	0.71028	.	.	ENSG00000166398	ENST00000299505;ENST00000543188	.	.	.	5.46	4.43	0.53597	.	0.114427	0.64402	D	0.000016	T	0.38825	0.1055	N	0.08118	0	0.47621	D	0.999475	B	0.19331	0.035	B	0.16289	0.015	T	0.31024	-0.9958	9	0.87932	D	0	-17.3952	14.1897	0.65630	0.072:0.0:0.928:0.0	.	311	O15063	K0355_HUMAN	T	311;14	.	ENSP00000299505:A311T	A	+	1	0	KIAA0355	39510600	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.159000	0.64923	1.327000	0.45338	-0.277000	0.10078	GCA		0.453	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		28	183	28	183	---	---	---	---
ZNF420	147923	broad.mit.edu	37	19	37618589	37618589	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:37618589T>A	ENST00000337995.3	+	5	911	c.696T>A	c.(694-696)ttT>ttA	p.F232L	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.F232L|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F232L(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAAAGCCTTTATTCGTAGCT	0.368																																						ENST00000337995.3																			1	Substitution - Missense(1)	p.F232L(1)	prostate(1)	breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27						c.(694-696)ttT>ttA		zinc finger protein 420							54.0	58.0	57.0					19																	37618589		2203	4300	6503	SO:0001583	missense	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37618589T>A	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.696T>A	19.37:g.37618589T>A	ENSP00000338770:p.Phe232Leu		Somatic				ZNF420_ENST00000304239.7_Missense_Mutation_p.F232L|ZNF585A_ENST00000588723.1_Intron	p.F232L	NM_144689.3	NP_653290.2	WXS	Illumina GAIIx	Phase_I	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	911	+			232					B2RDY6|Q96ML5	Missense_Mutation	SNP	ENST00000337995.3	37	c.696T>A	CCDS12498.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.171771	0.57584	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.46063	0.88;0.88	3.98	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63815	0.2543	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.67385	-0.5684	9	0.87932	D	0	.	7.6394	0.28284	0.0:0.1087:0.0:0.8913	.	232	Q8TAQ5	ZN420_HUMAN	L	232	ENSP00000306102:F232L;ENSP00000338770:F232L	ENSP00000306102:F232L	F	+	3	2	ZNF420	42310429	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-0.865000	0.04250	1.663000	0.50791	0.533000	0.62120	TTT		0.368	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		11	203	11	203	---	---	---	---
ZNF600	162966	broad.mit.edu	37	19	53270592	53270592	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:53270592A>C	ENST00000338230.3	-	3	684	c.417T>G	c.(415-417)taT>taG	p.Y139*		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	139					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y139*(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AATTATTCCCATAGTTATTAG	0.373																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			2	Substitution - Nonsense(2)	p.Y139*(2)	prostate(1)|lung(1)	breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(415-417)taT>taG		zinc finger protein 600							108.0	114.0	112.0					19																	53270592		2200	4300	6500	SO:0001587	stop_gained	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53270592A>C	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.417T>G	19.37:g.53270592A>C	ENSP00000344791:p.Tyr139*		Somatic					p.Y139*	NM_198457.2	NP_940859	WXS	Illumina GAIIx	Phase_I	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	684	-			139					Q6MZR0	Nonsense_Mutation	SNP	ENST00000338230.3	37	c.417T>G	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	17.45	3.393180	0.62066	.	.	ENSG00000189190	ENST00000338230	.	.	.	1.15	1.15	0.20763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	4.5436	0.12071	1.0:0.0:0.0:0.0	.	.	.	.	X	139	.	ENSP00000344791:Y139X	Y	-	3	2	ZNF600	57962404	0.119000	0.22226	0.001000	0.08648	0.002000	0.02628	0.566000	0.23593	0.813000	0.34350	0.248000	0.18094	TAT		0.373	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		5	390	5	390	---	---	---	---
NRIP1	8204	broad.mit.edu	37	21	16338592	16338592	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr21:16338592G>T	ENST00000400202.1	-	3	2634	c.1922C>A	c.(1921-1923)tCa>tAa	p.S641*	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.S641*|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.S641*			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	641	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S641*(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGACATGGATGACTGCATTCC	0.438																																						ENST00000400202.1																			1	Substitution - Nonsense(1)	p.S641*(1)	prostate(1)	cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(1921-1923)tCa>tAa		nuclear receptor interacting protein 1							154.0	155.0	155.0					21																	16338592		2203	4300	6503	SO:0001587	stop_gained	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16338592G>T	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1922C>A	21.37:g.16338592G>T	ENSP00000383063:p.Ser641*		Somatic				NRIP1_ENST00000400199.1_Nonsense_Mutation_p.S641*|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.S641*	p.S641*			WXS	Illumina GAIIx	Phase_I	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	2634	-			641			Repression domain 2.		Q8IWE8	Nonsense_Mutation	SNP	ENST00000400202.1	37	c.1922C>A	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	41	9.136693	0.99077	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	.	.	.	5.69	5.69	0.88448	.	0.147292	0.46442	D	0.000298	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.9401	17.1324	0.86729	0.0:0.1261:0.8739:0.0	.	.	.	.	X	641	.	ENSP00000327213:S641X	S	-	2	0	NRIP1	15260463	1.000000	0.71417	0.998000	0.56505	0.360000	0.29518	2.536000	0.45693	2.865000	0.98341	0.655000	0.94253	TCA		0.438	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		8	316	8	316	---	---	---	---
ADAMTS1	9510	broad.mit.edu	37	21	28211980	28211980	+	Missense_Mutation	SNP	C	C	T	rs201769018		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr21:28211980C>T	ENST00000284984.3	-	7	2408	c.1954G>A	c.(1954-1956)Gtc>Atc	p.V652I		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	652	Cys-rich.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V652I(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TTTGGTGAGACGCCAGCGTAC	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		16223	0.0		0.001	False		,,,				2504	0.0					ENST00000284984.3																			2	Substitution - Missense(2)	p.V652I(2)	prostate(2)	central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(1954-1956)Gtc>Atc		ADAM metallopeptidase with thrombospondin type 1 motif, 1							127.0	121.0	123.0					21																	28211980		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28211980C>T	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1954G>A	21.37:g.28211980C>T	ENSP00000284984:p.Val652Ile		Somatic					p.V652I	NM_006988.3	NP_008919.3	WXS	Illumina GAIIx	Phase_I	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	7	2408	-		Breast(209;0.000962)				Cys-rich.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.1954G>A	CCDS33524.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.29	1.308055	0.23821	.	.	ENSG00000154734	ENST00000284984	T	0.59502	0.26	5.35	5.35	0.76521	.	.	.	.	.	T	0.52645	0.1747	L	0.52905	1.665	0.54753	D	0.999989	P	0.45396	0.857	B	0.40677	0.337	T	0.50118	-0.8865	9	0.30854	T	0.27	.	13.8532	0.63510	0.0:0.9272:0.0:0.0728	.	652	Q9UHI8	ATS1_HUMAN	I	652	ENSP00000284984:V652I	ENSP00000284984:V652I	V	-	1	0	ADAMTS1	27133851	1.000000	0.71417	0.931000	0.37212	0.048000	0.14542	4.517000	0.60503	2.941000	0.99782	0.655000	0.94253	GTC		0.468	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			20	299	20	299	---	---	---	---
SYN3	8224	broad.mit.edu	37	22	33260926	33260926	+	Silent	SNP	T	T	C			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr22:33260926T>C	ENST00000358763.2	-	6	929	c.687A>G	c.(685-687)acA>acG	p.T229T	SYN3_ENST00000332840.5_Silent_p.T229T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	229	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.T229T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGGGGAAAAATGTTTGCTCCA	0.438																																						ENST00000358763.2																			1	Substitution - coding silent(1)	p.T229T(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(685-687)acA>acG		synapsin III							213.0	214.0	214.0					22																	33260926		2203	4300	6503	SO:0001819	synonymous_variant	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:33260926T>C	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.687A>G	22.37:g.33260926T>C			Somatic				SYN3_ENST00000332840.5_Silent_p.T229T	p.T229T	NM_001135774.1	NP_001129246.1	WXS	Illumina GAIIx	Phase_I	O14994	SYN3_HUMAN			6	929	-			229			C; actin-binding and synaptic-vesicle binding.		B1B1F9	Silent	SNP	ENST00000358763.2	37	c.687A>G	CCDS13908.1																																																																																				0.438	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			15	371	15	371	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70472907	70472907	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chrX:70472907C>A	ENST00000353904.2	-	2	386	c.199G>T	c.(199-201)Gaa>Taa	p.E67*	ZMYM3_ENST00000373982.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373998.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373978.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373981.1_Nonsense_Mutation_p.E67*	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	67					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E67*(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GGGTCTTTTTCCAGGCCAGCA	0.642																																						ENST00000373998.1																			1	Substitution - Nonsense(1)	p.E67*(1)	prostate(1)	breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(199-201)Gaa>Taa		zinc finger, MYM-type 3							14.0	15.0	15.0					X																	70472907		2197	4286	6483	SO:0001587	stop_gained	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70472907C>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.199G>T	X.37:g.70472907C>A	ENSP00000343909:p.Glu67*		Somatic				ZMYM3_ENST00000373981.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373978.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000353904.2_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373982.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.E67*|ZMYM3_ENST00000489332.1_5'UTR	p.E67*	NM_001171162.1	NP_001164633.1	WXS	Illumina GAIIx	Phase_I	Q14202	ZMYM3_HUMAN			2	896	-	Renal(35;0.156)		67					D3DVV3|O15089|Q96E26	Nonsense_Mutation	SNP	ENST00000353904.2	37	c.199G>T	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	36	5.927197	0.97110	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	.	.	.	5.28	5.28	0.74379	.	0.367392	0.23354	N	0.049088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-4.8806	16.2441	0.82431	0.0:1.0:0.0:0.0	.	.	.	.	X	67	.	ENSP00000322845:E67X	E	-	1	0	ZMYM3	70389632	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.422000	0.59854	2.204000	0.70986	0.287000	0.19450	GAA		0.642	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		3	30	3	30	---	---	---	---
POF1B	79983	broad.mit.edu	37	X	84561266	84561266	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chrX:84561266G>T	ENST00000262753.4	-	12	1383	c.1238C>A	c.(1237-1239)tCa>tAa	p.S413*	POF1B_ENST00000373145.3_Nonsense_Mutation_p.S413*	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	413						tight junction (GO:0005923)		p.S413*(2)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTCCATGTCTGATAGTGTATG	0.343																																						ENST00000262753.4																			2	Substitution - Nonsense(2)	p.S413*(2)	prostate(2)	central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(1237-1239)tCa>tAa		premature ovarian failure, 1B							166.0	138.0	147.0					X																	84561266		2203	4300	6503	SO:0001587	stop_gained	79983						actin binding	g.chrX:84561266G>T	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1238C>A	X.37:g.84561266G>T	ENSP00000262753:p.Ser413*		Somatic				POF1B_ENST00000373145.3_Nonsense_Mutation_p.S413*	p.S413*	NM_024921.3	NP_079197.3	WXS	Illumina GAIIx	Phase_I	Q8WVV4	POF1B_HUMAN			12	1383	-			413					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Nonsense_Mutation	SNP	ENST00000262753.4	37	c.1238C>A	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	g	38	6.679839	0.97755	.	.	ENSG00000124429	ENST00000262753;ENST00000373145	.	.	.	5.88	5.88	0.94601	.	0.281536	0.37136	N	0.002221	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0049	12.1679	0.54141	0.0:0.1672:0.8328:0.0	.	.	.	.	X	413	.	ENSP00000262753:S413X	S	-	2	0	POF1B	84447922	1.000000	0.71417	0.990000	0.47175	0.974000	0.67602	2.806000	0.47947	2.480000	0.83734	0.597000	0.82753	TCA		0.343	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		50	155	50	155	---	---	---	---
MAGEA6	4105	broad.mit.edu	37	X	151869832	151869832	+	Silent	SNP	C	C	T			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chrX:151869832C>T	ENST00000329342.5	+	3	747	c.522C>T	c.(520-522)caC>caT	p.H174H		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	174	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.H174H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCGGCCACGTGTACATCT	0.532																																						ENST00000329342.5																			1	Substitution - coding silent(1)	p.H174H(1)	prostate(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(520-522)caC>caT		melanoma antigen family A, 6							126.0	113.0	118.0					X																	151869832		2203	4299	6502	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151869832C>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.522C>T	X.37:g.151869832C>T			Somatic					p.H174H	NM_005363.2	NP_005354.1	WXS	Illumina GAIIx	Phase_I	P43360	MAGA6_HUMAN			3	747	+	Acute lymphoblastic leukemia(192;6.56e-05)		174			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.522C>T	CCDS14708.1																																																																																				0.532	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		13	143	13	143	---	---	---	---
RASL11B	65997	broad.mit.edu	37	4	53730662	53730662	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr4:53730662delC	ENST00000248706.3	+	3	435	c.217delC	c.(217-219)caafs	p.Q73fs	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1			RAS-like, family 11, member B											autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			CTATACTAGACAAGTTCAGAT	0.378																																						ENST00000248706.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9						c.(217-219)caafs		RAS-like, family 11, member B							175.0	190.0	185.0					4																	53730662		2203	4300	6503	SO:0001589	frameshift_variant	65997				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity	g.chr4:53730662delC	BK001672	CCDS3490.1	4q12	2014-05-09			ENSG00000128045	ENSG00000128045			23804	protein-coding gene	gene with protein product		612404					Standard	NM_023940		Approved		uc003gzt.3	Q9BPW5	OTTHUMG00000102097	ENST00000248706.3:c.217delC	4.37:g.53730662delC	ENSP00000248706:p.Gln73fs		Somatic				RASL11B_ENST00000505041.1_3'UTR	p.Q73fs	NM_023940.2	NP_076429.1	WXS	Illumina GAIIx	Phase_I	Q9BPW5	RSLBB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.0302)		3	435	+			73			Small GTPase-like.			Frame_Shift_Del	DEL	ENST00000248706.3	37	c.217delC	CCDS3490.1																																																																																				0.378	RASL11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219931.2	NM_023940		7	785	7	785	---	---	---	---
PACS1	55690	broad.mit.edu	37	11	66000448	66000449	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr11:66000448_66000449insA	ENST00000320580.4	+	15	1782_1783	c.1749_1750insA	c.(1750-1752)cagfs	p.Q584fs	PACS1_ENST00000529757.1_Frame_Shift_Ins_p.Q120fs	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	584					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTGAGCTGCTCCAGGACCAGCG	0.624																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(1750-1752)cagfs		phosphofurin acidic cluster sorting protein 1																																				SO:0001589	frameshift_variant	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:66000448_66000449insA	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	Exception_encountered	11.37:g.66000448_66000449insA	ENSP00000316454:p.Gln584fs		Somatic				PACS1_ENST00000529757.1_Frame_Shift_Ins_p.Q120fs	p.Q584fs	NM_018026.3	NP_060496.2	WXS	Illumina GAIIx	Phase_I	Q6VY07	PACS1_HUMAN			15	1782_1783	+			584					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Frame_Shift_Ins	INS	ENST00000320580.4	37	c.1749_1750insA	CCDS8129.1																																																																																				0.624	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		35	423	35	423	---	---	---	---
