#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
HFM1	164045	broad.mit.edu	37	1	91843738	91843738	+	Silent	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr1:91843738T>A	ENST00000370425.3	-	11	1337	c.1239A>T	c.(1237-1239)gtA>gtT	p.V413V	HFM1_ENST00000370424.3_Silent_p.V92V|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	413	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.V413V(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTACAATATGTACCTAAGCAG	0.274																																						ENST00000370425.3																			1	Substitution - coding silent(1)	p.V413V(1)	prostate(1)	breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(1237-1239)gtA>gtT		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							52.0	46.0	48.0					1																	91843738		1803	4079	5882	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91843738T>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.1239A>T	1.37:g.91843738T>A			Somatic				HFM1_ENST00000370424.3_Silent_p.V92V|HFM1_ENST00000294696.5_5'UTR	p.V413V	NM_001017975.3	NP_001017975.3	WXS	Illumina GAIIx	Phase_I	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	11	1337	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	413			Helicase ATP-binding.		B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	c.1239A>T	CCDS30769.2																																																																																				0.274	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		5	89	5	89	---	---	---	---
THUMPD2	80745	broad.mit.edu	37	2	39982551	39982551	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:39982551T>A	ENST00000505747.1	-	8	991		c.e8-2		THUMPD2_ENST00000260619.6_Splice_Site	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2								methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				ATACACATCCTATGGGGAAAT	0.323																																						ENST00000505747.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17						c.e8-2		THUMP domain containing 2							40.0	41.0	41.0					2																	39982551		2201	4300	6501	SO:0001630	splice_region_variant	80745						methyltransferase activity	g.chr2:39982551T>A	AF380576	CCDS1805.1, CCDS1805.2	2p22.2	2004-06-04	2004-06-04	2004-06-04	ENSG00000138050	ENSG00000138050			14890	protein-coding gene	gene with protein product		611751	"""chromosome 2 open reading frame 8"""	C2orf8		12063391	Standard	NM_025264		Approved	MGC2454	uc002rru.2	Q9BTF0	OTTHUMG00000102149	ENST00000505747.1:c.964-2A>T	2.37:g.39982551T>A			Somatic				THUMPD2_ENST00000260619.6_Splice_Site		NM_025264.4	NP_079540.2	WXS	Illumina GAIIx	Phase_I	Q9BTF0	THUM2_HUMAN			8	991	-		all_hematologic(82;0.248)						A8K7I7|Q53TT8|Q53TV0	Splice_Site	SNP	ENST00000505747.1	37		CCDS1805.2	.	.	.	.	.	.	.	.	.	.	T	15.96	2.986484	0.53934	.	.	ENSG00000138050	ENST00000505747;ENST00000260619	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8516	0.52415	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	THUMPD2	39836055	1.000000	0.71417	0.071000	0.20095	0.868000	0.49771	4.675000	0.61619	2.053000	0.61076	0.379000	0.24179	.		0.323	THUMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219991.2	NM_025264	Intron	4	77	4	77	---	---	---	---
KDM3A	55818	broad.mit.edu	37	2	86705343	86705343	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:86705343C>T	ENST00000409556.1	+	15	2508	c.2143C>T	c.(2143-2145)Cat>Tat	p.H715Y	KDM3A_ENST00000409064.1_Missense_Mutation_p.H715Y|KDM3A_ENST00000312912.5_Missense_Mutation_p.H715Y|KDM3A_ENST00000542128.1_Missense_Mutation_p.H663Y			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	715					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.H715Y(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAGTCAGATACATGAACCAGA	0.408																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			2	Substitution - Missense(2)	p.H715Y(2)	prostate(2)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(2143-2145)Cat>Tat		lysine (K)-specific demethylase 3A							138.0	137.0	137.0					2																	86705343		2203	4300	6503	SO:0001583	missense	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86705343C>T	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2143C>T	2.37:g.86705343C>T	ENSP00000386660:p.His715Tyr		Somatic				KDM3A_ENST00000542128.1_Missense_Mutation_p.H663Y|KDM3A_ENST00000312912.5_Missense_Mutation_p.H715Y|KDM3A_ENST00000409064.1_Missense_Mutation_p.H715Y	p.H715Y			WXS	Illumina GAIIx	Phase_I	Q9Y4C1	KDM3A_HUMAN			15	2508	+			715					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	ENST00000409556.1	37	c.2143C>T	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584363	0.86748	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	D;D;D;D	0.81579	-1.5;-1.5;-1.5;-1.51	5.84	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.90202	0.6937	M	0.84511	2.7	0.51233	D	0.999918	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	D	0.91700	0.5373	10	0.87932	D	0	.	14.1958	0.65670	0.0:0.9284:0.0:0.0716	.	663;715	F5H070;Q9Y4C1	.;KDM3A_HUMAN	Y	715;715;715;715;663	ENSP00000386660:H715Y;ENSP00000323659:H715Y;ENSP00000386516:H715Y;ENSP00000438324:H663Y	ENSP00000323659:H715Y	H	+	1	0	KDM3A	86558854	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	7.818000	0.86416	1.475000	0.48197	0.655000	0.94253	CAT		0.408	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		27	159	27	159	---	---	---	---
IL1RL2	8808	broad.mit.edu	37	2	102842427	102842427	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:102842427A>T	ENST00000264257.2	+	9	1187	c.1061A>T	c.(1060-1062)tAc>tTc	p.Y354F	IL1RL2_ENST00000539491.1_Missense_Mutation_p.Y354F|IL1RL2_ENST00000441515.2_Missense_Mutation_p.Y236F|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	354					cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.Y236F(1)|p.Y354F(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCTGTTGTGTACATATACAAC	0.383																																						ENST00000264257.2																			2	Substitution - Missense(2)	p.Y236F(1)|p.Y354F(1)	prostate(2)	breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(1060-1062)tAc>tTc		interleukin 1 receptor-like 2							134.0	108.0	117.0					2																	102842427		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102842427A>T	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1061A>T	2.37:g.102842427A>T	ENSP00000264257:p.Tyr354Phe		Somatic				IL1RL2_ENST00000539491.1_Missense_Mutation_p.Y354F|IL1RL2_ENST00000441515.2_Missense_Mutation_p.Y236F|IL1RL2_ENST00000481806.1_3'UTR	p.Y354F	NM_003854.2	NP_003845.2	WXS	Illumina GAIIx	Phase_I	Q9HB29	ILRL2_HUMAN			9	1187	+			354					A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.1061A>T	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	A	2.808	-0.247554	0.05867	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.03124	4.3;4.04;4.3	5.78	-9.11	0.00711	.	1.179030	0.05698	N	0.593549	T	0.01523	0.0049	N	0.05078	-0.115	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47560	-0.9108	10	0.12103	T	0.63	.	7.6041	0.28093	0.4248:0.0:0.121:0.4543	.	236;354	A4FU63;Q9HB29	.;ILRL2_HUMAN	F	354;236;354	ENSP00000264257:Y354F;ENSP00000413348:Y236F;ENSP00000442184:Y354F	ENSP00000264257:Y354F	Y	+	2	0	IL1RL2	102208859	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.033000	0.13754	-1.923000	0.01065	-0.408000	0.06270	TAC		0.383	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		5	82	5	82	---	---	---	---
LY75	4065	broad.mit.edu	37	2	160688257	160688257	+	Silent	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:160688257C>T	ENST00000263636.4	-	28	3909	c.3882G>A	c.(3880-3882)gaG>gaA	p.E1294E	LY75-CD302_ENST00000505052.1_Silent_p.E1294E|LY75_ENST00000554112.1_Silent_p.E1294E|LY75-CD302_ENST00000504764.1_Silent_p.E1294E|LY75_ENST00000553424.1_Silent_p.E1294E	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1294	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.E1294E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CAAAGTTATTCTCCTTTTCAT	0.294																																						ENST00000263636.4																			1	Substitution - coding silent(1)	p.E1294E(1)	prostate(1)	NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(3880-3882)gaG>gaA		lymphocyte antigen 75							110.0	115.0	113.0					2																	160688257		2203	4294	6497	SO:0001819	synonymous_variant	4065							g.chr2:160688257C>T	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3882G>A	2.37:g.160688257C>T			Somatic				LY75_ENST00000554112.1_Silent_p.E1294E|LY75-CD302_ENST00000505052.1_Silent_p.E1294E|LY75_ENST00000553424.1_Silent_p.E1294E|LY75-CD302_ENST00000504764.1_Silent_p.E1294E	p.E1294E	NM_002349.3	NP_002340.2	WXS	Illumina GAIIx	Phase_I				COAD - Colon adenocarcinoma(177;0.132)	28	3909	-								O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	ENST00000263636.4	37	c.3882G>A	CCDS2211.1																																																																																				0.294	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			6	165	6	165	---	---	---	---
TMEM198	130612	broad.mit.edu	37	2	220414063	220414063	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:220414063A>G	ENST00000344458.2	+	5	1517	c.932A>G	c.(931-933)gAc>gGc	p.D311G	TMEM198_ENST00000373883.3_Missense_Mutation_p.D311G|MIR3132_ENST00000581997.1_RNA|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	311					multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D311G(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TTCAATGGAGACGTCCTCTCC	0.632																																						ENST00000344458.2																			2	Substitution - Missense(2)	p.D311G(2)	prostate(2)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(931-933)gAc>gGc		transmembrane protein 198							36.0	37.0	37.0					2																	220414063		2203	4300	6503	SO:0001583	missense	130612					integral to membrane		g.chr2:220414063A>G	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.932A>G	2.37:g.220414063A>G	ENSP00000343507:p.Asp311Gly		Somatic				TMEM198_ENST00000373883.3_Missense_Mutation_p.D311G	p.D311G			WXS	Illumina GAIIx	Phase_I	Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	5	1517	+		Renal(207;0.0376)	311						Missense_Mutation	SNP	ENST00000344458.2	37	c.932A>G	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.744007	0.89663	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	5.62	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	L	0.49126	1.545	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.68217	-0.5467	9	0.51188	T	0.08	-23.5464	11.0287	0.47759	0.9265:0.0:0.0735:0.0	.	311	Q66K66	TM198_HUMAN	G	311	.	ENSP00000343507:D311G	D	+	2	0	TMEM198	220122307	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.277000	0.78572	2.275000	0.75901	0.528000	0.53228	GAC		0.632	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		3	61	3	61	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1427451	1427451	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:1427451C>T	ENST00000446702.2	+	20	3301	c.2674C>T	c.(2674-2676)Ccc>Tcc	p.P892S	CNTN6_ENST00000539053.1_Missense_Mutation_p.P820S|CNTN6_ENST00000350110.2_Missense_Mutation_p.P892S			Q9UQ52	CNTN6_HUMAN	contactin 6	892	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.P892S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GCCCTCAAGCCCCCCAGTCAA	0.453																																						ENST00000446702.2																			1	Substitution - Missense(1)	p.P892S(1)	prostate(1)	breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2674-2676)Ccc>Tcc		contactin 6							143.0	143.0	143.0					3																	1427451		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1427451C>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2674C>T	3.37:g.1427451C>T	ENSP00000407822:p.Pro892Ser		Somatic				CNTN6_ENST00000350110.2_Missense_Mutation_p.P892S|CNTN6_ENST00000539053.1_Missense_Mutation_p.P820S	p.P892S			WXS	Illumina GAIIx	Phase_I	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	20	3301	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	892			Fibronectin type-III 3.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2674C>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	6.991	0.552883	0.13374	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.53423	0.62;0.62;0.62	5.75	-0.852	0.10713	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.903647	0.09441	N	0.801792	T	0.27798	0.0684	N	0.26162	0.8	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.23440	-1.0188	10	0.16896	T	0.51	.	4.5944	0.12322	0.4752:0.1558:0.2965:0.0725	.	892	Q9UQ52	CNTN6_HUMAN	S	892;820;892	ENSP00000407822:P892S;ENSP00000442791:P820S;ENSP00000341882:P892S	ENSP00000341882:P892S	P	+	1	0	CNTN6	1402451	0.000000	0.05858	0.234000	0.24042	0.983000	0.72400	0.112000	0.15479	-0.174000	0.10743	0.650000	0.86243	CCC		0.453	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		7	240	7	240	---	---	---	---
DAG1	1605	broad.mit.edu	37	3	49570280	49570280	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:49570280G>A	ENST00000539901.1	+	3	2894	c.2336G>A	c.(2335-2337)cGg>cAg	p.R779Q	DAG1_ENST00000515359.2_Missense_Mutation_p.R779Q|DAG1_ENST00000308775.2_Missense_Mutation_p.R779Q|DAG1_ENST00000538711.1_Missense_Mutation_p.R779Q|DAG1_ENST00000541308.1_Missense_Mutation_p.R779Q|DAG1_ENST00000545947.1_Missense_Mutation_p.R779Q	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	779					basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)	p.R779Q(1)		NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGCAAGAAGCGGAAGGGCAAG	0.572																																						ENST00000545947.1																			1	Substitution - Missense(1)	p.R779Q(1)	prostate(1)	NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23						c.(2335-2337)cGg>cAg		dystroglycan 1 (dystrophin-associated glycoprotein 1)							61.0	49.0	53.0					3																	49570280		2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49570280G>A	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.2336G>A	3.37:g.49570280G>A	ENSP00000439334:p.Arg779Gln		Somatic				DAG1_ENST00000539901.1_Missense_Mutation_p.R779Q|DAG1_ENST00000308775.2_Missense_Mutation_p.R779Q|DAG1_ENST00000515359.2_Missense_Mutation_p.R779Q|DAG1_ENST00000538711.1_Missense_Mutation_p.R779Q|DAG1_ENST00000541308.1_Missense_Mutation_p.R779Q	p.R779Q	NM_001177634.2	NP_001171105	WXS	Illumina GAIIx	Phase_I	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	6	3058	+			779					A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.2336G>A	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658674	0.88154	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.78470	0.4288	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78270	-0.2269	9	.	.	.	-18.4028	18.9242	0.92538	0.0:0.0:1.0:0.0	.	779	Q14118	DAG1_HUMAN	Q	779	ENSP00000440705:R779Q;ENSP00000312435:R779Q;ENSP00000442600:R779Q;ENSP00000440590:R779Q;ENSP00000439334:R779Q;ENSP00000438421:R779Q	.	R	+	2	0	DAG1	49545284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.764000	0.94973	0.650000	0.86243	CGG		0.572	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			3	62	3	62	---	---	---	---
SPATA12	353324	broad.mit.edu	37	3	57108293	57108293	+	Nonstop_Mutation	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:57108293T>A	ENST00000334325.1	+	2	1246	c.571T>A	c.(571-573)Taa>Aaa	p.*191K	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	0										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		CACACATCTGTAATCAATAAT	0.512																																						ENST00000334325.1																			0				large_intestine(2)|lung(1)	3						c.(571-573)Taa>Aaa		spermatogenesis associated 12							83.0	85.0	84.0					3																	57108293		2139	4189	6328	SO:0001578	stop_lost	353324							g.chr3:57108293T>A	AY221117	CCDS2879.1	3p21.2	2012-09-19			ENSG00000186451	ENSG00000186451			23221	protein-coding gene	gene with protein product		609869				22981541, 17251597	Standard	NM_181727		Approved		uc003dij.1	Q7Z6I5	OTTHUMG00000158862	ENST00000334325.1:c.571T>A	3.37:g.57108293T>A	ENSP00000335392:p.*191Lysext*36		Somatic				ARHGEF3_ENST00000338458.4_Intron	p.*191K	NM_181727.1	NP_859078.1	WXS	Illumina GAIIx	Phase_I	Q7Z6I5	SPT12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)	2	1246	+			0					A0AVA8|B2RMW1	Nonstop_Mutation	SNP	ENST00000334325.1	37	c.571T>A	CCDS2879.1	.	.	.	.	.	.	.	.	.	.	T	0.486	-0.877797	0.02550	.	.	ENSG00000186451	ENST00000334325	.	.	.	1.67	-0.933	0.10431	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6025	0.02677	0.2972:0.1957:0.0:0.5071	.	.	.	.	K	191	.	.	X	+	1	0	SPATA12	57083333	0.003000	0.15002	0.001000	0.08648	0.072000	0.16883	-0.131000	0.10482	-0.242000	0.09667	0.260000	0.18958	TAA		0.512	SPATA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352457.2	NM_181727		7	233	7	233	---	---	---	---
CFAP44	55779	broad.mit.edu	37	3	113152410	113152410	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:113152410A>T	ENST00000295868.2	-	2	263		c.e2+1		WDR52_ENST00000393845.2_Splice_Site|WDR52-AS1_ENST00000498480.1_RNA	NM_018338.3	NP_060808.2												p.?(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATCTTTACTTACATCTTGATT	0.299																																						ENST00000393845.2																			1	Unknown(1)	p.?(1)	prostate(1)	breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						c.e2+1		WD repeat domain 52							84.0	84.0	84.0					3																	113152410		2202	4299	6501	SO:0001630	splice_region_variant	55779							g.chr3:113152410A>T																												ENST00000295868.2:c.100+1T>A	3.37:g.113152410A>T			Somatic				WDR52_ENST00000295868.2_Splice_Site|WDR52-AS1_ENST00000498480.1_RNA		NM_001164496.1	NP_001157968.1	WXS	Illumina GAIIx	Phase_I	Q96MT7	WDR52_HUMAN			2	167	-									Splice_Site	SNP	ENST00000295868.2	37		CCDS2972.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523849	0.44866	.	.	ENSG00000206530	ENST00000393845;ENST00000295868;ENST00000473143	.	.	.	3.72	3.72	0.42706	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0934	0.36625	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR52	114635100	0.998000	0.40836	0.984000	0.44739	0.449000	0.32228	2.111000	0.41883	1.919000	0.55581	0.528000	0.53228	.		0.299	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3		Intron	8	206	8	206	---	---	---	---
ZBTB38	253461	broad.mit.edu	37	3	141161343	141161343	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:141161343T>C	ENST00000514251.1	+	4	392	c.113T>C	c.(112-114)aTt>aCt	p.I38T	ZBTB38_ENST00000441582.2_Missense_Mutation_p.I38T|ZBTB38_ENST00000321464.5_Missense_Mutation_p.I39T					zinc finger and BTB domain containing 38									p.I38T(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTCACTATCATTGTGGAAGAT	0.428																																						ENST00000514251.1																			1	Substitution - Missense(1)	p.I38T(1)	prostate(1)	breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(112-114)aTt>aCt		zinc finger and BTB domain containing 38							138.0	129.0	132.0					3																	141161343		1864	4115	5979	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141161343T>C	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.113T>C	3.37:g.141161343T>C	ENSP00000426387:p.Ile38Thr		Somatic				ZBTB38_ENST00000321464.5_Missense_Mutation_p.I39T|ZBTB38_ENST00000441582.2_Missense_Mutation_p.I38T	p.I38T			WXS	Illumina GAIIx	Phase_I	Q8NAP3	ZBT38_HUMAN			4	392	+			38			BTB.			Missense_Mutation	SNP	ENST00000514251.1	37	c.113T>C	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969983	0.74246	.	.	ENSG00000177311	ENST00000509842;ENST00000507722;ENST00000513258;ENST00000509883;ENST00000514251;ENST00000510338;ENST00000504673;ENST00000513570;ENST00000441582;ENST00000321464;ENST00000510726;ENST00000509813	T;T;T;T;T;T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	5.17	5.17	0.71159	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.148137	0.46145	D	0.000314	T	0.73606	0.3608	L	0.42686	1.345	0.46954	D	0.999267	D;D	0.56968	0.978;0.978	P;P	0.60236	0.871;0.871	T	0.76900	-0.2788	10	0.87932	D	0	-25.1023	15.3051	0.73987	0.0:0.0:0.0:1.0	.	39;38	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	T	38;38;38;38;38;38;38;38;38;39;38;38	ENSP00000426931:I38T;ENSP00000421037:I38T;ENSP00000426288:I38T;ENSP00000424254:I38T;ENSP00000426387:I38T;ENSP00000425705:I38T;ENSP00000422347:I38T;ENSP00000422757:I38T;ENSP00000406955:I38T;ENSP00000372635:I39T;ENSP00000422081:I38T;ENSP00000422894:I38T	ENSP00000372635:I39T	I	+	2	0	ZBTB38	142644033	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.655000	0.83696	2.095000	0.63458	0.482000	0.46254	ATT		0.428	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			10	387	10	387	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66356112	66356112	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr4:66356112A>T	ENST00000273854.3	-	5	1985	c.1385T>A	c.(1384-1386)gTa>gAa	p.V462E	EPHA5_ENST00000511294.1_Missense_Mutation_p.V462E|EPHA5_ENST00000354839.4_Missense_Mutation_p.V462E|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	462	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.V462E(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATTTGTGGTTACATTTACAGA	0.473										TSP Lung(17;0.13)																												ENST00000273854.3																			2	Substitution - Missense(2)	p.V462E(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1384-1386)gTa>gAa		EPH receptor A5							80.0	64.0	70.0					4																	66356112		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66356112A>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1385T>A	4.37:g.66356112A>T	ENSP00000273854:p.Val462Glu	TSP Lung(17;0.13)	Somatic				EPHA5_ENST00000511294.1_Missense_Mutation_p.V462E|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.V462E	p.V462E	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	WXS	Illumina GAIIx	Phase_I	P54756	EPHA5_HUMAN			5	1985	-			462					Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1385T>A	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589514	0.86851	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.57273	0.41;0.41;0.41	6.08	6.08	0.98989	Fibronectin, type III (1);	0.000000	0.53938	D	0.000049	T	0.76463	0.3991	M	0.86740	2.835	0.58432	D	0.999998	D;D;D;D	0.89917	0.987;0.989;0.992;1.0	P;P;D;D	0.70227	0.833;0.863;0.92;0.968	T	0.80845	-0.1200	10	0.87932	D	0	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	462;462;462;462	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	E	462	ENSP00000273854:V462E;ENSP00000346899:V462E;ENSP00000427638:V462E	ENSP00000273854:V462E	V	-	2	0	EPHA5	66038707	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.333000	0.79357	0.482000	0.46254	GTA		0.473	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		6	91	6	91	---	---	---	---
CSN1S1	1446	broad.mit.edu	37	4	70798273	70798273	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr4:70798273C>A	ENST00000246891.4	+	0	49				CSN1S1_ENST00000505782.1_5'Flank|CSN1S1_ENST00000507772.1_5'Flank|CSN1S1_ENST00000507763.1_De_novo_Start_InFrame|CSN1S1_ENST00000444405.3_De_novo_Start_InFrame	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1							extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						CTCTGATAACCATGAGGCTTC	0.353																																						ENST00000246891.4																			0				lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7								casein alpha s1							66.0	63.0	64.0					4																	70798273		1831	4082	5913			1446					extracellular region	protein binding|transporter activity	g.chr4:70798273C>A	X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"""casein, alpha"""	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843		4.37:g.70798273C>A			Somatic				CSN1S1_ENST00000507763.1_De_novo_Start_InFrame|CSN1S1_ENST00000505782.1_5'Flank|CSN1S1_ENST00000444405.3_De_novo_Start_InFrame|CSN1S1_ENST00000507772.1_5'Flank		NM_001890.1	NP_001881.1	WXS	Illumina GAIIx	Phase_I	P47710	CASA1_HUMAN			0	49	+								A1A510|A1A511|E9PB60|Q4PNR5	Translation_Start_Site	SNP	ENST00000246891.4	37		CCDS47067.1																																																																																				0.353	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1			4	21	4	21	---	---	---	---
UFL1	23376	broad.mit.edu	37	6	96974309	96974309	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr6:96974309C>G	ENST00000369278.4	+	5	529	c.463C>G	c.(463-465)Cag>Gag	p.Q155E		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	155	Involved in CDK5RAP3-binding.|Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										CTTTCTGACACAGGTATTTTT	0.368																																						ENST00000369278.4																			0											c.(463-465)Cag>Gag		UFM1-specific ligase 1							109.0	105.0	106.0					6																	96974309		2203	4300	6503	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96974309C>G	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.463C>G	6.37:g.96974309C>G	ENSP00000358283:p.Gln155Glu		Somatic					p.Q155E	NM_015323.4	NP_056138.1	WXS	Illumina GAIIx	Phase_I	O94874	UFL1_HUMAN			5	529	+			155			Involved in CDK5RAP3-binding.|Required for E3 UFM1-protein ligase activity.		A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.463C>G	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	C	4.166	0.029324	0.08054	.	.	ENSG00000014123	ENST00000369278	T	0.39229	1.09	5.67	4.74	0.60224	.	0.101773	0.64402	D	0.000003	T	0.05593	0.0147	N	0.01219	-0.95	0.44302	D	0.997172	B	0.06786	0.001	B	0.06405	0.002	T	0.33599	-0.9862	10	0.02654	T	1	-11.6071	13.6076	0.62056	0.0:0.7229:0.2771:0.0	.	155	O94874	UFL1_HUMAN	E	155	ENSP00000358283:Q155E	ENSP00000358283:Q155E	Q	+	1	0	KIAA0776	97081030	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.717000	0.54911	2.660000	0.90430	0.650000	0.86243	CAG		0.368	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		4	150	4	150	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152536125	152536125	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr6:152536125G>A	ENST00000367255.5	-	122	22863	c.22262C>T	c.(22261-22263)cCc>cTc	p.P7421L	SYNE1_ENST00000341594.5_Missense_Mutation_p.P7033L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P1945L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P7421L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P7350L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7421					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.P7421L(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCATTCAAGGGTAACCTATA	0.398										HNSCC(10;0.0054)																												ENST00000367255.5																			3	Substitution - Missense(3)	p.P7421L(3)	prostate(3)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(22261-22263)cCc>cTc		spectrin repeat containing, nuclear envelope 1							160.0	152.0	155.0					6																	152536125		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152536125G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22262C>T	6.37:g.152536125G>A	ENSP00000356224:p.Pro7421Leu	HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000341594.5_Missense_Mutation_p.P7033L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P7421L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P1945L	p.P7421L	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	122	22863	-		Ovarian(120;0.0955)	7421					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.22262C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	32	5.106428	0.94292	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.58060	0.45;1.4;0.44;0.36;0.44;0.6;2.5;1.54	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000010	T	0.69646	0.3134	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.63844	-0.6545	10	0.32370	T	0.25	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	7421;7421;7350;7350	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	L	7421;67;7350;7421;7350;7033;1945;343	ENSP00000356224:P7421L;ENSP00000356226:P67L;ENSP00000396024:P7350L;ENSP00000265368:P7421L;ENSP00000390975:P7350L;ENSP00000341887:P7033L;ENSP00000349276:P1945L;ENSP00000356220:P343L	ENSP00000265368:P7421L	P	-	2	0	SYNE1	152577818	1.000000	0.71417	0.787000	0.31911	0.924000	0.55760	9.802000	0.99131	2.834000	0.97654	0.650000	0.86243	CCC		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		13	269	13	269	---	---	---	---
ATP6V0A4	50617	broad.mit.edu	37	7	138437474	138437474	+	Silent	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr7:138437474G>A	ENST00000310018.2	-	11	1207	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	ATP6V0A4_ENST00000353492.4_Silent_p.L309L|ATP6V0A4_ENST00000393054.1_Silent_p.L309L	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	309					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.L309L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACATGTTCAGGATGTGGTAG	0.572																																						ENST00000310018.2																			1	Substitution - coding silent(1)	p.L309L(1)	prostate(1)	NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(925-927)Ctg>Ttg		ATPase, H+ transporting, lysosomal V0 subunit a4							128.0	102.0	111.0					7																	138437474		2203	4300	6503	SO:0001819	synonymous_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138437474G>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.925C>T	7.37:g.138437474G>A			Somatic				ATP6V0A4_ENST00000353492.4_Silent_p.L309L|ATP6V0A4_ENST00000393054.1_Silent_p.L309L	p.L309L	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	WXS	Illumina GAIIx	Phase_I	Q9HBG4	VPP4_HUMAN			11	1207	-			309					A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	c.925C>T	CCDS5849.1																																																																																				0.572	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		4	137	4	137	---	---	---	---
BTBD10	84280	broad.mit.edu	37	11	13424827	13424827	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:13424827T>A	ENST00000278174.5	-	8	1252		c.e8-2		BTBD10_ENST00000528120.1_Splice_Site|BTBD10_ENST00000530907.1_Splice_Site	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10							nucleus (GO:0005634)		p.?(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TATAAATAACTAGAAACAAAA	0.294																																						ENST00000278174.5																			1	Unknown(1)	p.?(1)	prostate(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20						c.e8-2		BTB (POZ) domain containing 10							34.0	38.0	37.0					11																	13424827		2128	4227	6355	SO:0001630	splice_region_variant	84280					nucleus		g.chr11:13424827T>A	AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.1007-2A>T	11.37:g.13424827T>A			Somatic				BTBD10_ENST00000530907.1_Splice_Site|BTBD10_ENST00000528120.1_Splice_Site		NM_032320.5	NP_115696.2	WXS	Illumina GAIIx	Phase_I	Q9BSF8	BTBDA_HUMAN		Epithelial(150;0.0214)	8	1252	-								B7Z228|Q86WG1	Splice_Site	SNP	ENST00000278174.5	37		CCDS7811.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508717	0.64410	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4506	0.75271	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BTBD10	13381403	1.000000	0.71417	0.998000	0.56505	0.838000	0.47535	7.951000	0.87819	2.123000	0.65237	0.528000	0.53228	.		0.294	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386200.1	NM_032320	Intron	8	192	8	192	---	---	---	---
MRGPRX4	117196	broad.mit.edu	37	11	18195494	18195494	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:18195494C>T	ENST00000314254.3	+	1	1111	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P231S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTGCGGCCTGCCCTTCGGCAT	0.532																																						ENST00000314254.3																			1	Substitution - Missense(1)	p.P231S(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(691-693)Ccc>Tcc		MAS-related GPR, member X4							96.0	90.0	92.0					11																	18195494		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195494C>T	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.691C>T	11.37:g.18195494C>T	ENSP00000314042:p.Pro231Ser		Somatic				RP11-113D6.6_ENST00000527671.1_Intron	p.P231S	NM_054032.3	NP_473373.2	WXS	Illumina GAIIx	Phase_I	Q96LA9	MRGX4_HUMAN			1	1111	+			231					Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.691C>T	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549621	0.65311	.	.	ENSG00000179817	ENST00000314254	T	0.80304	-1.36	2.85	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	D	0.90878	0.7134	M	0.93241	3.395	0.32011	N	0.602113	D	0.89917	1.0	D	0.80764	0.994	D	0.91676	0.5354	10	0.87932	D	0	.	11.4502	0.50147	0.0:1.0:0.0:0.0	.	231	Q96LA9	MRGX4_HUMAN	S	231	ENSP00000314042:P231S	ENSP00000314042:P231S	P	+	1	0	MRGPRX4	18152070	0.813000	0.29090	0.291000	0.24904	0.029000	0.11900	3.856000	0.55964	1.616000	0.50265	0.430000	0.28490	CCC		0.532	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		21	99	21	99	---	---	---	---
UEVLD	55293	broad.mit.edu	37	11	18579845	18579845	+	Silent	SNP	G	G	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:18579845G>C	ENST00000541984.1	-	5	407	c.345C>G	c.(343-345)ctC>ctG	p.L115L	UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000535484.1_Silent_p.L177L|UEVLD_ENST00000320750.6_Silent_p.L193L|UEVLD_ENST00000543987.1_Silent_p.L215L|UEVLD_ENST00000396197.3_Silent_p.L215L|UEVLD_ENST00000379387.4_Silent_p.L193L	NM_001261386.1	NP_001248315.1			UEV and lactate/malate dehyrogenase domains									p.L215L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCCCTTCTGAGAGGTCTAAGA	0.413																																						ENST00000396197.3																			2	Substitution - coding silent(2)	p.L215L(2)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(643-645)ctC>ctG		UEV and lactate/malate dehyrogenase domains							108.0	90.0	96.0					11																	18579845		2199	4293	6492	SO:0001819	synonymous_variant	55293				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr11:18579845G>C	AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.345C>G	11.37:g.18579845G>C			Somatic				UEVLD_ENST00000543987.1_Silent_p.L215L|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000541984.1_Silent_p.L115L|UEVLD_ENST00000320750.6_Silent_p.L193L|UEVLD_ENST00000535484.1_Silent_p.L177L|UEVLD_ENST00000379387.4_Silent_p.L193L	p.L215L	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	WXS	Illumina GAIIx	Phase_I	Q8IX04	UEVLD_HUMAN			7	673	-			215						Silent	SNP	ENST00000541984.1	37	c.645C>G	CCDS58125.1																																																																																				0.413	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000395928.1	NM_018314		7	106	7	106	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46322640	46322640	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr12:46322640T>A	ENST00000369367.3	-	11	1077	c.844A>T	c.(844-846)Act>Tct	p.T282S	SCAF11_ENST00000419565.2_Missense_Mutation_p.T282S|SCAF11_ENST00000549162.1_Missense_Mutation_p.T90S|SCAF11_ENST00000465950.1_5'UTR	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	282					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T282S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTGCAAGAAGTACCtaataat	0.308																																						ENST00000369367.3																			1	Substitution - Missense(1)	p.T282S(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(844-846)Act>Tct		SR-related CTD-associated factor 11							52.0	52.0	52.0					12																	46322640		2202	4300	6502	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46322640T>A	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.844A>T	12.37:g.46322640T>A	ENSP00000358374:p.Thr282Ser		Somatic				SCAF11_ENST00000549162.1_Missense_Mutation_p.T90S|SCAF11_ENST00000419565.2_Missense_Mutation_p.T282S|SCAF11_ENST00000465950.1_5'UTR	p.T282S	NM_004719.2	NP_004710.2	WXS	Illumina GAIIx	Phase_I	Q99590	SCAFB_HUMAN			11	1077	-			282					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.844A>T	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	5.161	0.215206	0.09810	.	.	ENSG00000139218	ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T	0.39787	1.06;1.8;1.06;1.06	5.77	1.68	0.24146	.	0.165297	0.28301	U	0.015855	T	0.24470	0.0593	N	0.20986	0.625	0.09310	N	1	B;B	0.16603	0.018;0.01	B;B	0.10450	0.005;0.002	T	0.20472	-1.0274	10	0.12103	T	0.63	-3.5362	10.7663	0.46295	0.5441:0.0:0.0:0.4559	.	90;282	F8VXG7;Q99590	.;SCAFB_HUMAN	S	282;90;282;222	ENSP00000358374:T282S;ENSP00000448864:T90S;ENSP00000413036:T282S;ENSP00000446746:T222S	ENSP00000358374:T282S	T	-	1	0	SCAF11	44608907	0.996000	0.38824	0.888000	0.34837	0.851000	0.48451	1.063000	0.30567	0.391000	0.25143	0.477000	0.44152	ACT		0.308	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		6	123	6	123	---	---	---	---
DIP2B	57609	broad.mit.edu	37	12	51089055	51089055	+	Silent	SNP	A	A	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr12:51089055A>T	ENST00000301180.5	+	15	1759	c.1725A>T	c.(1723-1725)gtA>gtT	p.V575V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	575						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTCAGAATGTAATGAATAAGA	0.333																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(1723-1725)gtA>gtT		DIP2 disco-interacting protein 2 homolog B (Drosophila)							132.0	129.0	130.0					12																	51089055		2203	4300	6503	SO:0001819	synonymous_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51089055A>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.1725A>T	12.37:g.51089055A>T			Somatic					p.V575V	NM_173602.2	NP_775873.2	WXS	Illumina GAIIx	Phase_I	Q9P265	DIP2B_HUMAN			15	1759	+			575					Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	c.1725A>T	CCDS31799.1																																																																																				0.333	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		7	234	7	234	---	---	---	---
TIMELESS	8914	broad.mit.edu	37	12	56811998	56811998	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr12:56811998T>C	ENST00000553532.1	-	27	3524	c.3374A>G	c.(3373-3375)cAc>cGc	p.H1125R	TIMELESS_ENST00000229201.4_Missense_Mutation_p.H1124R|TIMELESS_ENST00000554616.1_Missense_Mutation_p.H622R					timeless circadian clock									p.H1125R(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTCTTTACAGTGCTCCTCATC	0.582																																						ENST00000229201.4																			1	Substitution - Missense(1)	p.H1125R(1)	prostate(1)	NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(3370-3372)cAc>cGc		timeless circadian clock							151.0	159.0	157.0					12																	56811998		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56811998T>C	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3374A>G	12.37:g.56811998T>C	ENSP00000450607:p.His1125Arg		Somatic				TIMELESS_ENST00000553532.1_Missense_Mutation_p.H1125R|TIMELESS_ENST00000554616.1_Missense_Mutation_p.H622R	p.H1124R	NM_003920.3	NP_003911.2	WXS	Illumina GAIIx	Phase_I	Q9UNS1	TIM_HUMAN			27	3525	-			1125						Missense_Mutation	SNP	ENST00000553532.1	37	c.3371A>G	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.758030	0.31137	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.10960	3.35;3.35;2.82	5.26	2.65	0.31530	Timeless C-terminal (1);	0.527781	0.19233	N	0.119343	T	0.08358	0.0208	L	0.36672	1.1	0.20873	N	0.999837	B	0.22983	0.078	B	0.22880	0.042	T	0.35450	-0.9788	10	0.15499	T	0.54	.	10.3095	0.43699	0.0:0.0:0.3138:0.6862	.	1125	Q9UNS1	TIM_HUMAN	R	1124;1125;622	ENSP00000229201:H1124R;ENSP00000450607:H1125R;ENSP00000450848:H622R	ENSP00000229201:H1125R	H	-	2	0	TIMELESS	55098265	0.296000	0.24398	0.892000	0.35008	0.200000	0.23975	0.858000	0.27845	0.906000	0.36621	0.533000	0.62120	CAC		0.582	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		90	562	90	562	---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25376711	25376711	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr13:25376711T>A	ENST00000255324.5	+	14	2001		c.e14+2		RNF17_ENST00000255325.6_Splice_Site|RNF17_ENST00000381921.1_Splice_Site	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17						multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.?(4)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACTAGCAAAGTAAGTAACTTA	0.323																																						ENST00000255324.5																			4	Unknown(4)	p.?(4)	prostate(4)	NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.e14+2		ring finger protein 17							75.0	79.0	77.0					13																	25376711		2203	4300	6503	SO:0001630	splice_region_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25376711T>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1949+2T>A	13.37:g.25376711T>A			Somatic				RNF17_ENST00000381921.1_Splice_Site|RNF17_ENST00000255325.6_Splice_Site		NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	WXS	Illumina GAIIx	Phase_I	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	14	2001	+		Lung SC(185;0.0225)|Breast(139;0.077)						Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Splice_Site	SNP	ENST00000255324.5	37		CCDS9308.2	.	.	.	.	.	.	.	.	.	.	T	19.59	3.857059	0.71834	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3697	0.60707	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF17	24274711	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	3.699000	0.54778	1.997000	0.58415	0.482000	0.46254	.		0.323	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	Intron	8	170	8	170	---	---	---	---
KBTBD7	84078	broad.mit.edu	37	13	41767606	41767606	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr13:41767606T>C	ENST00000379483.3	-	1	1096	c.788A>G	c.(787-789)aAg>aGg	p.K263R		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	263								p.K263R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCGCACGCACTTGAAGACTTC	0.537																																						ENST00000379483.3																			1	Substitution - Missense(1)	p.K263R(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(787-789)aAg>aGg		kelch repeat and BTB (POZ) domain containing 7							65.0	67.0	66.0					13																	41767606		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41767606T>C	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.788A>G	13.37:g.41767606T>C	ENSP00000368797:p.Lys263Arg		Somatic					p.K263R	NM_032138.4	NP_115514.2	WXS	Illumina GAIIx	Phase_I	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1096	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	263					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.788A>G	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	T	7.600	0.672492	0.14776	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.68903	-0.36	4.98	2.21	0.28008	BTB/Kelch-associated (2);	0.499292	0.19859	N	0.104468	T	0.37892	0.1020	N	0.03948	-0.315	0.27228	N	0.959472	B	0.10296	0.003	B	0.16289	0.015	T	0.21999	-1.0229	10	0.35671	T	0.21	.	6.4282	0.21782	0.0:0.3115:0.0:0.6885	.	263	Q8WVZ9	KBTB7_HUMAN	R	263;165	ENSP00000368797:K263R	ENSP00000368797:K263R	K	-	2	0	KBTBD7	40665606	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	1.427000	0.34881	0.742000	0.32697	0.455000	0.32223	AAG		0.537	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		4	114	4	114	---	---	---	---
THBS1	7057	broad.mit.edu	37	15	39874829	39874829	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr15:39874829A>G	ENST00000260356.5	+	3	668	c.503A>G	c.(502-504)tAc>tGc	p.Y168C		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	168	Laminin G-like.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)	p.Y168C(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GCCCAGCTGTACATCGACTGT	0.562																																						ENST00000260356.5																			1	Substitution - Missense(1)	p.Y168C(1)	prostate(1)	breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(502-504)tAc>tGc		thrombospondin 1	Becaplermin(DB00102)						69.0	53.0	58.0					15																	39874829		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39874829A>G		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.503A>G	15.37:g.39874829A>G	ENSP00000260356:p.Tyr168Cys		Somatic					p.Y168C	NM_003246.2	NP_003237.2	WXS	Illumina GAIIx	Phase_I	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	3	668	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	168			TSP N-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.503A>G	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994878	0.74703	.	.	ENSG00000137801	ENST00000260356	T	0.03524	3.9	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.32852	N	0.005571	T	0.16685	0.0401	M	0.73962	2.25	0.53005	D	0.999964	D	0.76494	0.999	D	0.66602	0.945	T	0.00091	-1.2084	10	0.87932	D	0	-39.3674	14.7667	0.69646	1.0:0.0:0.0:0.0	.	168	P07996	TSP1_HUMAN	C	168	ENSP00000260356:Y168C	ENSP00000260356:Y168C	Y	+	2	0	THBS1	37662121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.831000	0.55776	2.267000	0.75376	0.533000	0.62120	TAC		0.562	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		5	84	5	84	---	---	---	---
PPIP5K1	9677	broad.mit.edu	37	15	43827082	43827082	+	Silent	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr15:43827082G>A	ENST00000396923.3	-	30	4213	c.4092C>T	c.(4090-4092)acC>acT	p.T1364T	PPIP5K1_ENST00000348806.6_Silent_p.T1337T|PPIP5K1_ENST00000360301.4_Silent_p.T1339T|PPIP5K1_ENST00000420765.1_Silent_p.T1364T|PPIP5K1_ENST00000360135.4_Silent_p.T1337T|PPIP5K1_ENST00000334933.4_Silent_p.T1339T|PPIP5K1_ENST00000381879.4_Silent_p.T1340T|PPIP5K1_ENST00000381885.1_Silent_p.T1360T			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1364					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.T1364T(1)		large_intestine(1)	1						CTTCTACAAGGGTTTCCTGGA	0.577																																						ENST00000420765.1																			1	Substitution - coding silent(1)	p.T1364T(1)	prostate(1)	large_intestine(1)	1						c.(4090-4092)acC>acT		diphosphoinositol pentakisphosphate kinase 1							96.0	98.0	98.0					15																	43827082		2201	4298	6499	SO:0001819	synonymous_variant	9677				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr15:43827082G>A	AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"""histidine acid phosphatase domain containing 2A"""	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.4092C>T	15.37:g.43827082G>A			Somatic				PPIP5K1_ENST00000381879.4_Silent_p.T1340T|PPIP5K1_ENST00000381885.1_Silent_p.T1360T|PPIP5K1_ENST00000396923.3_Silent_p.T1364T|PPIP5K1_ENST00000334933.4_Silent_p.T1339T|PPIP5K1_ENST00000360135.4_Silent_p.T1337T|PPIP5K1_ENST00000360301.4_Silent_p.T1339T|PPIP5K1_ENST00000348806.6_Silent_p.T1337T	p.T1364T	NM_001130858.2	NP_001124330.1	WXS	Illumina GAIIx	Phase_I	Q6PFW1	VIP1_HUMAN			31	4274	-			1364					O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Silent	SNP	ENST00000396923.3	37	c.4092C>T	CCDS45252.1																																																																																				0.577	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		8	217	8	217	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10310244	10310244	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr17:10310244A>G	ENST00000403437.2	-	18	2112	c.2018T>C	c.(2017-2019)gTa>gCa	p.V673A	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	673	Actin-binding.|Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.V673A(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GATACACCGTACGAAGTGAGG	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			1	Substitution - Missense(1)	p.V673A(1)	prostate(1)	NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2017-2019)gTa>gCa		myosin, heavy chain 8, skeletal muscle, perinatal							99.0	91.0	93.0					17																	10310244		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10310244A>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2018T>C	17.37:g.10310244A>G	ENSP00000384330:p.Val673Ala		Somatic				RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.V673A	NM_002472.2	NP_002463.2	WXS	Illumina GAIIx	Phase_I	P13535	MYH8_HUMAN			18	2112	-			673			Actin-binding.|Myosin head-like.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2018T>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.565725	0.86439	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.77229	-1.08	5.07	5.07	0.68467	Myosin head, motor domain (2);	0.000000	0.37577	U	0.002032	D	0.92166	0.7516	H	0.97315	3.98	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.94795	0.7965	10	0.87932	D	0	.	15.0034	0.71492	1.0:0.0:0.0:0.0	.	673	P13535	MYH8_HUMAN	A	673	ENSP00000384330:V673A	ENSP00000252173:V673A	V	-	2	0	MYH8	10250969	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.995000	0.93534	2.142000	0.66516	0.528000	0.53228	GTA		0.383	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		22	126	22	126	---	---	---	---
ROCK1	6093	broad.mit.edu	37	18	18586746	18586746	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr18:18586746T>A	ENST00000399799.2	-	15	2492	c.1552A>T	c.(1552-1554)Aca>Tca	p.T518S		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	518	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T518S(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCTTTAATGTAGAAACTAGA	0.308																																						ENST00000399799.2																			1	Substitution - Missense(1)	p.T518S(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(1552-1554)Aca>Tca		Rho-associated, coiled-coil containing protein kinase 1							57.0	61.0	60.0					18																	18586746		2201	4297	6498	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18586746T>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1552A>T	18.37:g.18586746T>A	ENSP00000382697:p.Thr518Ser		Somatic					p.T518S	NM_005406.2	NP_005397.1	WXS	Illumina GAIIx	Phase_I	Q13464	ROCK1_HUMAN			15	2492	-	Melanoma(1;0.165)					Interaction with FHOD1.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.1552A>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	9.907	1.208593	0.22205	.	.	ENSG00000067900	ENST00000399799	D	0.81996	-1.56	5.44	5.44	0.79542	.	0.049365	0.85682	D	0.000000	T	0.71634	0.3363	N	0.25144	0.715	0.54753	D	0.999988	B	0.10296	0.003	B	0.09377	0.004	T	0.66448	-0.5921	10	0.10377	T	0.69	.	15.6661	0.77230	0.0:0.0:0.0:1.0	.	518	Q13464	ROCK1_HUMAN	S	518	ENSP00000382697:T518S	ENSP00000382697:T518S	T	-	1	0	ROCK1	16840744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.391000	0.59652	2.285000	0.76669	0.533000	0.62120	ACA		0.308	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		7	202	7	202	---	---	---	---
ZNRF4	148066	broad.mit.edu	37	19	5456787	5456787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr19:5456787C>T	ENST00000222033.4	+	1	1362	c.1285C>T	c.(1285-1287)Cag>Tag	p.Q429*		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	429						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.Q429*(1)		NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGCCCCTGGTCAGTAAAGATC	0.582																																						ENST00000222033.4																			1	Substitution - Nonsense(1)	p.Q429*(1)	prostate(1)	NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1285-1287)Cag>Tag		zinc and ring finger 4							12.0	12.0	12.0					19																	5456787		1867	4065	5932	SO:0001587	stop_gained	148066					integral to membrane	zinc ion binding	g.chr19:5456787C>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.1285C>T	19.37:g.5456787C>T	ENSP00000222033:p.Gln429*		Somatic					p.Q429*	NM_181710.3	NP_859061.3	WXS	Illumina GAIIx	Phase_I	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	1362	+			429					A8K886|O75866	Nonsense_Mutation	SNP	ENST00000222033.4	37	c.1285C>T	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145487	0.37825	.	.	ENSG00000105428	ENST00000222033	.	.	.	2.87	-3.66	0.04489	.	31.807900	0.00846	U	0.001784	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.3324	0.04239	0.4046:0.288:0.0:0.3073	.	.	.	.	X	429	.	ENSP00000222033:Q429X	Q	+	1	0	ZNRF4	5407787	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.752000	0.00190	-0.296000	0.08947	-0.254000	0.11334	CAG		0.582	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		9	37	9	37	---	---	---	---
SLC6A16	28968	broad.mit.edu	37	19	49812329	49812329	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr19:49812329G>T	ENST00000335875.4	-	7	1274	c.1033C>A	c.(1033-1035)Caa>Aaa	p.Q345K	MIR4324_ENST00000584846.1_RNA|SLC6A16_ENST00000454748.3_Missense_Mutation_p.Q345K	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	345					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)	p.Q345K(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GACAAAACTTGACCCCCTGCT	0.483																																						ENST00000454748.3																			1	Substitution - Missense(1)	p.Q345K(1)	prostate(1)	NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1033-1035)Caa>Aaa		solute carrier family 6, member 16							174.0	161.0	166.0					19																	49812329		2012	4152	6164	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49812329G>T	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1033C>A	19.37:g.49812329G>T	ENSP00000338627:p.Gln345Lys		Somatic				SLC6A16_ENST00000335875.4_Missense_Mutation_p.Q345K	p.Q345K			WXS	Illumina GAIIx	Phase_I	Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	7	1234	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	345					Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.1033C>A	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624175	0.66901	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	D;D	0.81579	-1.51;-1.51	4.38	3.34	0.38264	.	0.323046	0.32970	N	0.005423	D	0.91540	0.7328	H	0.96175	3.78	0.37241	D	0.906133	D;D	0.67145	0.996;0.996	D;D	0.68765	0.96;0.96	D	0.94125	0.7383	10	0.87932	D	0	.	10.9912	0.47551	0.0928:0.0:0.9072:0.0	.	345;345	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	K	345	ENSP00000338627:Q345K;ENSP00000404022:Q345K	ENSP00000338627:Q345K	Q	-	1	0	SLC6A16	54504141	1.000000	0.71417	0.004000	0.12327	0.002000	0.02628	5.199000	0.65152	1.444000	0.47605	0.561000	0.74099	CAA		0.483	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		8	279	8	279	---	---	---	---
SYNJ1	8867	broad.mit.edu	37	21	34066614	34066614	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr21:34066614T>A	ENST00000322229.7	-	5	712	c.713A>T	c.(712-714)tAc>tTc	p.Y238F	SYNJ1_ENST00000382499.2_Missense_Mutation_p.Y277F|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Y277F			O43426	SYNJ1_HUMAN	synaptojanin 1	238	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTCATCTAAGTACACAACCTA	0.323																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(829-831)tAc>tTc		synaptojanin 1							58.0	56.0	56.0					21																	34066614		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34066614T>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.713A>T	21.37:g.34066614T>A	ENSP00000322234:p.Tyr238Phe		Somatic				SYNJ1_ENST00000322229.7_Missense_Mutation_p.Y238F|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Y277F	p.Y277F	NM_203446.2	NP_982271.2	WXS	Illumina GAIIx	Phase_I	O43426	SYNJ1_HUMAN			6	829	-			238			SAC.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.830A>T	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	T	14.01	2.407439	0.42715	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4	5.87	4.66	0.58398	Synaptojanin, N-terminal (2);	0.104578	0.64402	D	0.000002	T	0.37100	0.0991	N	0.25245	0.725	0.51012	D	0.999909	B;B;B;B;B	0.11235	0.001;0.002;0.004;0.002;0.001	B;B;B;B;B	0.17979	0.015;0.02;0.019;0.02;0.004	T	0.17319	-1.0373	10	0.30854	T	0.27	.	10.7292	0.46087	0.2375:0.0:0.0:0.7625	.	238;277;238;238;238	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	F	238;238;277;277;238;238	ENSP00000371931:Y238F;ENSP00000349903:Y238F;ENSP00000371939:Y277F;ENSP00000409667:Y277F;ENSP00000322234:Y238F;ENSP00000413649:Y238F	ENSP00000322234:Y238F	Y	-	2	0	SYNJ1	32988485	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	2.151000	0.42263	2.243000	0.73865	0.482000	0.46254	TAC		0.323	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				4	73	4	73	---	---	---	---
CSTB	1476	broad.mit.edu	37	21	45194208	45194208	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr21:45194208G>A	ENST00000291568.5	-	3	347	c.172C>T	c.(172-174)Cac>Tac	p.H58Y		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	58					adult locomotory behavior (GO:0008344)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.H58Y(1)		lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		TCGCCGACGTGCACCTGGGAA	0.537																																					Esophageal Squamous(58;831 1093 17019 29789 35147)	ENST00000291568.5																			1	Substitution - Missense(1)	p.H58Y(1)	prostate(1)	lung(1)|prostate(1)	2						c.(172-174)Cac>Tac		cystatin B (stefin B)							140.0	127.0	131.0					21																	45194208		2203	4300	6503	SO:0001583	missense	1476					cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding	g.chr21:45194208G>A	L03558	CCDS13701.1	21q22.3	2014-09-17			ENSG00000160213	ENSG00000160213			2482	protein-coding gene	gene with protein product		601145		EPM1, STFB		8596935	Standard	NM_000100		Approved	CST6, PME	uc002zdr.4	P04080	OTTHUMG00000086886	ENST00000291568.5:c.172C>T	21.37:g.45194208G>A	ENSP00000291568:p.His58Tyr		Somatic					p.H58Y	NM_000100.3	NP_000091.1	WXS	Illumina GAIIx	Phase_I	P04080	CYTB_HUMAN		STAD - Stomach adenocarcinoma(101;0.168)	3	347	-			58						Missense_Mutation	SNP	ENST00000291568.5	37	c.172C>T	CCDS13701.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050887	0.55218	.	.	ENSG00000160213	ENST00000291568	T	0.26373	1.74	5.2	4.3	0.51218	Proteinase inhibitor I25, cystatin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	0.161484	0.56097	D	0.000039	T	0.35624	0.0938	.	.	.	0.80722	D	1	D	0.53462	0.96	P	0.51266	0.664	T	0.10222	-1.0639	9	0.49607	T	0.09	-21.3388	11.1999	0.48734	0.0:0.2385:0.7615:0.0	.	58	P04080	CYTB_HUMAN	Y	58	ENSP00000291568:H58Y	ENSP00000291568:H58Y	H	-	1	0	CSTB	44018636	0.968000	0.33430	0.064000	0.19789	0.025000	0.11179	3.369000	0.52365	1.113000	0.41760	0.561000	0.74099	CAC		0.537	CSTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195689.1	NM_000100		21	118	21	118	---	---	---	---
VSIG4	11326	broad.mit.edu	37	X	65252421	65252421	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chrX:65252421T>C	ENST00000374737.4	-	3	691	c.583A>G	c.(583-585)Acc>Gcc	p.T195A	VSIG4_ENST00000412866.2_Intron|VSIG4_ENST00000455586.2_Missense_Mutation_p.T195A	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	195	Ig-like 2.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.T195A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGAGTAAGGTACTTAGGGTT	0.498																																						ENST00000455586.2																			1	Substitution - Missense(1)	p.T195A(1)	prostate(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(583-585)Acc>Gcc		V-set and immunoglobulin domain containing 4							193.0	162.0	172.0					X																	65252421		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65252421T>C	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.583A>G	X.37:g.65252421T>C	ENSP00000363869:p.Thr195Ala		Somatic				VSIG4_ENST00000374737.4_Missense_Mutation_p.T195A|VSIG4_ENST00000412866.2_Intron	p.T195A	NM_001184830.1	NP_001171759.1	WXS	Illumina GAIIx	Phase_I	Q9Y279	VSIG4_HUMAN			3	709	-			195			Ig-like 2.		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.583A>G	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.778|7.778	0.708802|0.708802	0.15239|0.15239	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000423830|ENST00000427538	T;T;T|.	0.03772|.	3.81;3.81;3.81|.	4.04|4.04	1.65|1.65	0.23941|0.23941	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.727143|.	0.12251|.	N|.	0.485577|.	T|T	0.40372|0.40372	0.1114|0.1114	L|L	0.58101|0.58101	1.795|1.795	0.09310|0.09310	N|N	1|1	P;P;B;D|.	0.57571|.	0.75;0.789;0.407;0.98|.	B;P;B;P|.	0.56474|.	0.396;0.608;0.325;0.799|.	T|T	0.30534|0.30534	-0.9975|-0.9975	10|5	0.40728|.	T|.	0.16|.	-0.7344|-0.7344	4.6683|4.6683	0.12676|0.12676	0.0:0.279:0.0:0.721|0.0:0.279:0.0:0.721	.|.	195;118;185;195|.	Q9Y279-2;C9JTJ4;C9JH67;Q9Y279|.	.;.;.;VSIG4_HUMAN|.	A|C	195;195;118|121	ENSP00000363869:T195A;ENSP00000411581:T195A;ENSP00000414594:T118A|.	ENSP00000363869:T195A|.	T|Y	-|-	1|2	0|0	VSIG4|VSIG4	65169146|65169146	0.055000|0.055000	0.20627|0.20627	0.016000|0.016000	0.15963|0.15963	0.024000|0.024000	0.10985|0.10985	0.982000|0.982000	0.29539|0.29539	0.331000|0.331000	0.23511|0.23511	0.481000|0.481000	0.45027|0.45027	ACC|TAC		0.498	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		6	66	6	66	---	---	---	---
