#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SYT11	23208	broad.mit.edu	37	1	155837993	155837993	+	Missense_Mutation	SNP	G	G	A	rs528248189		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr1:155837993G>A	ENST00000368324.4	+	2	525	c.272G>A	c.(271-273)cGt>cAt	p.R91H	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	91					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GAAGGTGGACGTAGGAACCTG	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19641	0.0		0.0	False		,,,				2504	0.001					ENST00000368324.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(271-273)cGt>cAt		synaptotagmin XI							126.0	116.0	120.0					1																	155837993		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155837993G>A	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.272G>A	1.37:g.155837993G>A	ENSP00000357307:p.Arg91His					SYT11_ENST00000539162.1_Intron	p.R91H	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	525	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		91					Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.272G>A	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.516765	0.44763	.	.	ENSG00000132718	ENST00000368324	T	0.51071	0.72	5.76	3.9	0.45041	.	0.113741	0.56097	N	0.000028	T	0.21186	0.0510	L	0.38175	1.15	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.07009	-1.0795	10	0.54805	T	0.06	.	10.6779	0.45797	0.1497:0.0:0.8503:0.0	.	91	Q9BT88	SYT11_HUMAN	H	91	ENSP00000357307:R91H	ENSP00000357307:R91H	R	+	2	0	SYT11	154104617	0.002000	0.14202	0.917000	0.36280	0.991000	0.79684	0.371000	0.20450	0.788000	0.33755	0.655000	0.94253	CGT		0.522	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		8	69	0	0	0	1	0	8	69				
SLC39A10	57181	broad.mit.edu	37	2	196581641	196581641	+	Silent	SNP	C	C	T	rs570834233		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr2:196581641C>T	ENST00000409086.3	+	7	2252	c.1977C>T	c.(1975-1977)tcC>tcT	p.S659S	SLC39A10_ENST00000541054.1_Silent_p.S209S|SLC39A10_ENST00000359634.5_Silent_p.S659S	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	659					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			ATTCTGGATCCGATCTGAAAG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		19196	0.0		0.0	False		,,,				2504	0.001					ENST00000409086.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34						c.(1975-1977)tcC>tcT		solute carrier family 39 (zinc transporter), member 10							135.0	126.0	129.0					2																	196581641		2203	4300	6503	SO:0001819	synonymous_variant	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196581641C>T		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1977C>T	2.37:g.196581641C>T						SLC39A10_ENST00000359634.5_Silent_p.S659S|SLC39A10_ENST00000541054.1_Silent_p.S209S	p.S659S	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		7	2252	+			659					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Silent	SNP	ENST00000409086.3	37	c.1977C>T	CCDS33353.1																																																																																				0.488	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		17	68	0	0	0	1	0	17	68				
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs376870088		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196									tubulin, beta pseudogene 5									p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687																																						ENST00000503395.1																			1	Substitution - Missense(1)	p.R77H(1)	urinary_tract(1)																																																0							g.chr9:141070116G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070116G>A														0	1196	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.687	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		4	66	0	0	0	1	0	4	66				
VRTN	55237	broad.mit.edu	37	14	74825278	74825278	+	Missense_Mutation	SNP	G	G	T			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr14:74825278G>T	ENST00000256362.4	+	2	2033	c.1792G>T	c.(1792-1794)Gat>Tat	p.D598Y		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	598					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TTCTTCAGAAGATGTAGAGGG	0.662																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1792-1794)Gat>Tat		vertebrae development associated							28.0	35.0	33.0					14																	74825278		2199	4299	6498	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74825278G>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1792G>T	14.37:g.74825278G>T	ENSP00000256362:p.Asp598Tyr						p.D598Y	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	2033	+			598					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.1792G>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743367	0.30865	.	.	ENSG00000133980	ENST00000256362	T	0.52983	0.64	4.14	-0.974	0.10293	.	1.597380	0.03856	U	0.273184	T	0.24084	0.0583	N	0.08118	0	0.09310	N	1	B	0.33379	0.41	B	0.25884	0.064	T	0.18398	-1.0338	10	0.59425	D	0.04	0.0513	4.0987	0.10004	0.402:0.1752:0.4229:0.0	.	598	Q9H8Y1	VRTN_HUMAN	Y	598	ENSP00000256362:D598Y	ENSP00000256362:D598Y	D	+	1	0	VRTN	73895031	0.000000	0.05858	0.089000	0.20774	0.147000	0.21601	-0.743000	0.04845	-0.071000	0.12886	0.491000	0.48974	GAT		0.662	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		11	28	1	0	0.010729	1	0.0111339	11	28				
COL4A6	1288	broad.mit.edu	37	X	107423790	107423790	+	Missense_Mutation	SNP	C	C	G			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chrX:107423790C>G	ENST00000372216.4	-	25	2189	c.2089G>C	c.(2089-2091)Gga>Cga	p.G697R	COL4A6_ENST00000538570.1_Missense_Mutation_p.G696R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G696R|COL4A6_ENST00000334504.7_Missense_Mutation_p.G696R|COL4A6_ENST00000394872.2_Missense_Mutation_p.G697R	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	697	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTGGCTCTCCTTTACTTCCA	0.517									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000334504.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(2086-2088)Gga>Cga		collagen, type IV, alpha 6							64.0	50.0	55.0					X																	107423790		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107423790C>G	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2089G>C	X.37:g.107423790C>G	ENSP00000361290:p.Gly697Arg					COL4A6_ENST00000394872.2_Missense_Mutation_p.G697R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G696R|COL4A6_ENST00000372216.4_Missense_Mutation_p.G697R|COL4A6_ENST00000538570.1_Missense_Mutation_p.G696R	p.G696R	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN			25	2319	-			697			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.2086G>C	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.143860	0.37825	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-5.77	5.16	5.16	0.70880	.	0.000000	0.41500	D	0.000878	D	0.99658	0.9873	H	0.96662	3.86	0.53688	D	0.999974	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	D	0.97521	1.0073	10	0.87932	D	0	.	18.4186	0.90579	0.0:1.0:0.0:0.0	.	696;696;697;696	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	R	697;696;697;696;696;696	ENSP00000361290:G697R;ENSP00000334733:G696R;ENSP00000378340:G697R;ENSP00000443707:G696R;ENSP00000445236:G696R	ENSP00000334733:G696R	G	-	1	0	COL4A6	107310446	1.000000	0.71417	0.981000	0.43875	0.030000	0.12068	5.001000	0.63946	2.485000	0.83878	0.513000	0.50165	GGA		0.517	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			3	36	0	0	0	1	0	3	36				
PCDH10	57575	broad.mit.edu	37	4	134084436	134084436	+	Splice_Site	SNP	G	G	T			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr4:134084436G>T	ENST00000264360.5	+	4	3928	c.3102G>T	c.(3100-3102)ttG>ttT	p.L1034F		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	1034					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CACCATATTTGAGTAAGTATT	0.433																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.e4+1		protocadherin 10							79.0	88.0	85.0					4																	134084436		2203	4298	6501	SO:0001630	splice_region_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084436G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.3103+1G>T	4.37:g.134084436G>T							p.L1034_splice	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3928	+			1034					Q4W5F6|Q96SF0	Splice_Site	SNP	ENST00000264360.5	37	c.3103_splice	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.792778	0.70452	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.59224	0.28	5.77	5.77	0.91146	.	0.000000	0.32518	N	0.005996	T	0.66896	0.2836	L	0.34521	1.04	0.53688	D	0.999976	D	0.71674	0.998	D	0.78314	0.991	T	0.68949	-0.5274	10	0.87932	D	0	.	15.1149	0.72394	0.0:0.1412:0.8588:0.0	.	1034	Q9P2E7	PCD10_HUMAN	F	1034	ENSP00000264360:L1034F	ENSP00000264360:L1034F	L	+	3	2	PCDH10	134303886	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.099000	0.57755	2.717000	0.92951	0.650000	0.86243	TTG		0.433	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961	Missense_Mutation	20	37	1	0	5.35267e-07	1	6.13326e-07	20	37				
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667																																						ENST00000391413.2																			6	Substitution - coding silent(6)	p.R51R(6)	endometrium(3)|kidney(2)|lung(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(151-153)agG>agA		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274415		682	1579	2261	SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274415C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.153G>A	17.37:g.39274415C>T							p.R51R	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	191	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.153G>A	CCDS45675.1																																																																																				0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	52	0	0	0	1	0	4	52				
ZCCHC7	84186	broad.mit.edu	37	9	37304308	37304308	+	Nonsense_Mutation	SNP	C	C	T	rs377509996		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr9:37304308C>T	ENST00000336755.5	+	4	884	c.778C>T	c.(778-780)Cga>Tga	p.R260*	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_5'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	260						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		CCCCTTACCACGAGTACGTGA	0.438																																						ENST00000336755.5																			0				central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30						c.(778-780)Cga>Tga		zinc finger, CCHC domain containing 7		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	99.0	94.0	95.0		778	5.4	1.0	9		95	0,8600		0,0,4300	no	stop-gained	ZCCHC7	NM_032226.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		260/544	37304308	1,13005	2203	4300	6503	SO:0001587	stop_gained	84186						nucleic acid binding|zinc ion binding	g.chr9:37304308C>T	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.778C>T	9.37:g.37304308C>T	ENSP00000337839:p.Arg260*					ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_5'UTR	p.R260*	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	4	884	+			260					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Nonsense_Mutation	SNP	ENST00000336755.5	37	c.778C>T	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033203	0.75504	2.27E-4	0.0	ENSG00000147905	ENST00000336755	.	.	.	5.43	5.43	0.79202	.	0.653399	0.14362	N	0.324397	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-8.8149	11.6721	0.51408	0.2846:0.7154:0.0:0.0	.	.	.	.	X	260	.	ENSP00000337839:R260X	R	+	1	2	ZCCHC7	37294308	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	2.323000	0.43823	2.552000	0.86080	0.650000	0.86243	CGA		0.438	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		19	73	0	0	0	1	0	19	73				
TUBBP1	92755	broad.mit.edu	37	8	30210703	30210703	+	RNA	SNP	T	T	G			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr8:30210703T>G	ENST00000518096.1	+	0	1315									tubulin, beta pseudogene 1																		CCGGAAGGCCTTCCTCCACTG	0.572																																						ENST00000518096.1																			0																																																			0							g.chr8:30210703T>G	J00317		8p12	2012-10-16	2005-11-15		ENSG00000127589	ENSG00000127589			12414	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 1"""			7070533	Standard	NG_001206		Approved				OTTHUMG00000163834		8.37:g.30210703T>G														0	1315	+									RNA	SNP	ENST00000518096.1	37																																																																																						0.572	TUBBP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375880.1	NG_001206		10	54	0	0	0	1	0	10	54				
TRBV6-7	28600	broad.mit.edu	37	7	142143906	142143906	+	RNA	SNP	G	G	C			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr7:142143906G>C	ENST00000390373.2	-	0	89									T cell receptor beta variable 6-7 (non-functional)																		TCTTCAGGACGTGGAATTTTG	0.527																																						ENST00000390373.2																			0																																																			0							g.chr7:142143906G>C	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253188	ENSG00000253188		"""T cell receptors / TRB locus"""	12232	other	T cell receptor gene			"""T cell receptor beta variable 6-7"""			8650574	Standard	NG_001333		Approved	TRBV67, TCRBV13S8P, TCRBV6S7			OTTHUMG00000158511		7.37:g.142143906G>C														0	89	-									RNA	SNP	ENST00000390373.2	37																																																																																						0.527	TRBV6-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351217.2	NG_001333		5	91	0	0	0	1	0	5	91				
ZNF804A	91752	broad.mit.edu	37	2	185803618	185803618	+	Silent	SNP	T	T	G			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr2:185803618T>G	ENST00000302277.6	+	4	4089	c.3495T>G	c.(3493-3495)gcT>gcG	p.A1165A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1165							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTTTTGTTGCTCCTCCTCAGA	0.512																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(3493-3495)gcT>gcG		zinc finger protein 804A							232.0	206.0	215.0					2																	185803618		2203	4300	6503	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185803618T>G	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3495T>G	2.37:g.185803618T>G							p.A1165A	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	4089	+			1165					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.3495T>G	CCDS2291.1																																																																																				0.512	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		32	87	0	0	0	1	0	32	87				
DNAH9	1770	broad.mit.edu	37	17	11827215	11827215	+	Missense_Mutation	SNP	C	C	T	rs376820901		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr17:11827215C>T	ENST00000262442.4	+	62	11902	c.11834C>T	c.(11833-11835)gCg>gTg	p.A3945V	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.A3945V|DNAH9_ENST00000608377.1_Missense_Mutation_p.A257V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3945	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTGAGGCTGCGCTGGACCTC	0.493																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(11833-11835)gCg>gTg		dynein, axonemal, heavy chain 9		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	165.0	134.0	145.0		11834,770	0.7	0.6	17		145	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DNAH9	NM_001372.3,NM_004662.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	3945/4487,257/799	11827215	1,13005	2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11827215C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11834C>T	17.37:g.11827215C>T	ENSP00000262442:p.Ala3945Val					DNAH9_ENST00000454412.2_Missense_Mutation_p.A3945V|DNAH9_ENST00000396001.2_Missense_Mutation_p.A257V	p.A3945V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	62	11902	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3945			AAA 6 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.11834C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434994	0.62955	0.0	1.16E-4	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.09445	2.98;2.98;2.98	4.98	0.667	0.17907	Dynein heavy chain (1);	0.287190	0.38720	N	0.001595	T	0.13243	0.0321	M	0.78801	2.425	0.48341	D	0.999638	B;P	0.34977	0.113;0.478	B;B	0.37780	0.072;0.258	T	0.04115	-1.0976	10	0.31617	T	0.26	.	6.2195	0.20673	0.0:0.6376:0.1338:0.2286	.	298;3945	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	V	3945;3945;2527;257;298	ENSP00000262442:A3945V;ENSP00000414874:A3945V;ENSP00000379323:A257V	ENSP00000262442:A3945V	A	+	2	0	DNAH9	11767940	0.997000	0.39634	0.552000	0.28243	0.963000	0.63663	3.868000	0.56055	0.013000	0.14918	0.561000	0.74099	GCG		0.493	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		25	83	0	0	0	1	0	25	83				
CHM	1121	broad.mit.edu	37	X	85213927	85213927	+	Missense_Mutation	SNP	C	C	A			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chrX:85213927C>A	ENST00000357749.2	-	6	787	c.758G>T	c.(757-759)cGa>cTa	p.R253L	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.R105L	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	253					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				CTCTGCATATCGACTAACATT	0.343																																						ENST00000357749.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(757-759)cGa>cTa		choroideremia (Rab escort protein 1)							74.0	68.0	70.0					X																	85213927		2203	4299	6502	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85213927C>A	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.758G>T	X.37:g.85213927C>A	ENSP00000350386:p.Arg253Leu					CHM_ENST00000537751.1_Missense_Mutation_p.R105L|CHM_ENST00000467744.1_Intron	p.R253L	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN			6	787	-		all_lung(315;5.41e-06)	253					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.758G>T	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063471	0.76187	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.88277	-2.36;-2.36	4.83	3.06	0.35304	.	0.131067	0.52532	D	0.000061	D	0.94598	0.8259	M	0.91354	3.2	0.58432	D	0.999995	D	0.65815	0.995	D	0.70016	0.967	D	0.93626	0.6952	10	0.87932	D	0	-16.5115	10.1654	0.42877	0.0:0.8331:0.0:0.1669	.	253	P24386	RAE1_HUMAN	L	253;105	ENSP00000350386:R253L;ENSP00000441728:R105L	ENSP00000350386:R253L	R	-	2	0	CHM	85100583	1.000000	0.71417	0.825000	0.32803	0.972000	0.66771	4.310000	0.59141	0.306000	0.22856	0.513000	0.50165	CGA		0.343	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		17	10	1	0	5.3912e-06	1	6.05135e-06	17	10				
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr7:142168890C>T	ENST00000454561.2	-	0	155									T cell receptor beta variable 5-4																		GGGCTTGGTCCTCCTGGGGAA	0.592																																						ENST00000454561.2																			0																				25.0	26.0	26.0					7																	142168890		1957	4131	6088			0							g.chr7:142168890C>T	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168890C>T														0	155	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.592	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		4	20	0	0	0	1	0	4	20				
DTX1	1840	broad.mit.edu	37	12	113515329	113515329	+	Silent	SNP	C	C	A	rs201802722		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr12:113515329C>A	ENST00000257600.3	+	2	863	c.360C>A	c.(358-360)gcC>gcA	p.A120A		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	120	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A120A(3)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CATGGACGGCCTACGATATGG	0.627																																						ENST00000257600.3																			3	Substitution - coding silent(3)	p.A120A(3)	large_intestine(1)|kidney(1)|endometrium(1)	central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(358-360)gcC>gcA		deltex homolog 1 (Drosophila)							97.0	77.0	84.0					12																	113515329		2203	4300	6503	SO:0001819	synonymous_variant	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113515329C>A	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.360C>A	12.37:g.113515329C>A							p.A120A	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			2	863	+			120			WWE 2.		O60630|Q9BS04	Silent	SNP	ENST00000257600.3	37	c.360C>A	CCDS9164.1																																																																																				0.627	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			5	51	1	0	1	1	1	5	51				
TCF20	6942	broad.mit.edu	37	22	42605932	42605932	+	Missense_Mutation	SNP	C	C	T			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr22:42605932C>T	ENST00000359486.3	-	1	5516	c.5380G>A	c.(5380-5382)Gac>Aac	p.D1794N	TCF20_ENST00000404876.1_Missense_Mutation_p.D95N|TCF20_ENST00000335626.4_Missense_Mutation_p.D1794N	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1794					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCACCACAGTCTTCCGAGCGG	0.607																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(5380-5382)Gac>Aac		transcription factor 20 (AR1)							59.0	65.0	63.0					22																	42605932		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42605932C>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5380G>A	22.37:g.42605932C>T	ENSP00000352463:p.Asp1794Asn					TCF20_ENST00000335626.4_Missense_Mutation_p.D1794N|TCF20_ENST00000404876.1_Missense_Mutation_p.D95N	p.D1794N	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5516	-			1794					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.5380G>A	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099369	0.56183	.	.	ENSG00000100207	ENST00000359486;ENST00000335626;ENST00000404876	T;T;T	0.68624	0.22;0.22;-0.34	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.79627	0.4478	L	0.60455	1.87	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.99	T	0.71998	-0.4423	10	0.21014	T	0.42	-26.3829	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1794;1794	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	N	1794;1794;95	ENSP00000352463:D1794N;ENSP00000335561:D1794N;ENSP00000385531:D95N	ENSP00000335561:D1794N	D	-	1	0	TCF20	40935876	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.420000	0.73349	2.884000	0.98904	0.655000	0.94253	GAC		0.607	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		33	65	0	0	0	1	0	33	65				
KRTAP9-3	83900	broad.mit.edu	37	17	39389179	39389179	+	Silent	SNP	C	C	A			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr17:39389179C>A	ENST00000411528.2	+	1	465	c.426C>A	c.(424-426)acC>acA	p.T142T		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	142	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCAGGACCACTTGTTTCC	0.567																																						ENST00000411528.2																			0				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8						c.(424-426)acC>acA		keratin associated protein 9-3							132.0	164.0	153.0					17																	39389179		2105	4300	6405	SO:0001819	synonymous_variant	83900					keratin filament	protein binding	g.chr17:39389179C>A	AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"""Keratin associated proteins"""	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.426C>A	17.37:g.39389179C>A							p.T142T	NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	465	+		Breast(137;0.000496)	142			16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].			Silent	SNP	ENST00000411528.2	37	c.426C>A	CCDS11385.1																																																																																				0.567	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1			4	148	1	0	3.59834e-05	1	3.88056e-05	4	148				
MRGPRX4	117196	broad.mit.edu	37	11	18195549	18195549	+	Missense_Mutation	SNP	T	T	C			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr11:18195549T>C	ENST00000314254.3	+	1	1166	c.746T>C	c.(745-747)tTa>tCa	p.L249S	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			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						TTGGAAGTCTTATATTGTCAT	0.502																																						ENST00000314254.3																			0				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.(745-747)tTa>tCa		MAS-related GPR, member X4							145.0	133.0	137.0					11																	18195549		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195549T>C	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.746T>C	11.37:g.18195549T>C	ENSP00000314042:p.Leu249Ser					RP11-113D6.6_ENST00000527671.1_Intron	p.L249S	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN			1	1166	+			249					Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.746T>C	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	T	3.008	-0.204464	0.06180	.	.	ENSG00000179817	ENST00000314254	T	0.72835	-0.69	2.32	2.32	0.28847	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.55893	0.1949	L	0.37507	1.11	0.09310	N	1	B	0.17038	0.02	B	0.15870	0.014	T	0.37267	-0.9713	9	0.16420	T	0.52	.	8.4733	0.32999	0.0:0.0:0.0:1.0	.	249	Q96LA9	MRGX4_HUMAN	S	249	ENSP00000314042:L249S	ENSP00000314042:L249S	L	+	2	0	MRGPRX4	18152125	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	0.105000	0.15333	1.320000	0.45209	0.352000	0.21897	TTA		0.502	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		25	50	0	0	0	1	0	25	50				
TMEM106B	54664	broad.mit.edu	37	7	12270040	12270040	+	Missense_Mutation	SNP	T	T	C			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr7:12270040T>C	ENST00000396667.3	+	7	930	c.608T>C	c.(607-609)aTa>aCa	p.I203T	TMEM106B_ENST00000396668.3_Missense_Mutation_p.I203T	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B	203					cell death (GO:0008219)|dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		CCTACCGTTATAGCAGAGGAA	0.274																																						ENST00000396667.2																			0				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18						c.(607-609)aTa>aCa		transmembrane protein 106B							118.0	124.0	122.0					7																	12270040		2202	4299	6501	SO:0001583	missense	54664					integral to membrane		g.chr7:12270040T>C	BC033901	CCDS5358.1	7p21.3	2012-06-06			ENSG00000106460	ENSG00000106460			22407	protein-coding gene	gene with protein product		613413				20154673, 22511793	Standard	NM_018374		Approved	MGC33727, FLJ11273	uc003ssh.3	Q9NUM4	OTTHUMG00000125537	ENST00000396667.3:c.608T>C	7.37:g.12270040T>C	ENSP00000379901:p.Ile203Thr					TMEM106B_ENST00000396668.3_Missense_Mutation_p.I203T	p.I203T	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.185)	7	930	+			203					A4D108|Q53FL9|Q8N4L0	Missense_Mutation	SNP	ENST00000396667.3	37	c.608T>C	CCDS5358.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418261	0.83449	.	.	ENSG00000106460	ENST00000396668;ENST00000396667	T;T	0.27890	1.64;1.64	5.87	5.87	0.94306	.	0.125554	0.64402	D	0.000002	T	0.49592	0.1566	M	0.83483	2.645	0.54753	D	0.999982	P	0.37914	0.611	P	0.46049	0.502	T	0.54629	-0.8265	10	0.72032	D	0.01	.	15.9373	0.79720	0.0:0.0:0.0:1.0	.	203	Q9NUM4	T106B_HUMAN	T	203	ENSP00000379902:I203T;ENSP00000379901:I203T	ENSP00000379901:I203T	I	+	2	0	TMEM106B	12236565	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	7.318000	0.79029	2.230000	0.72887	0.533000	0.62120	ATA		0.274	TMEM106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246870.3	NM_018374		16	58	0	0	0	1	0	16	58				
APH1B	83464	broad.mit.edu	37	15	63569916	63569916	+	Missense_Mutation	SNP	A	A	T			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr15:63569916A>T	ENST00000261879.5	+	1	164	c.94A>T	c.(94-96)Atc>Ttc	p.I32F	APH1B_ENST00000380343.4_Missense_Mutation_p.I32F	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	32					apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						GCCGTTGCGTATCATCTTCCT	0.692																																						ENST00000261879.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(94-96)Atc>Ttc		APH1B gamma secretase subunit							49.0	49.0	49.0					15																	63569916		2203	4300	6503	SO:0001583	missense	83464				apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	integral to membrane|plasma membrane|transport vesicle	peptidase activity|protein binding	g.chr15:63569916A>T	AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"""anterior pharynx defective 1 homolog B (C. elegans)"""			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.94A>T	15.37:g.63569916A>T	ENSP00000261879:p.Ile32Phe					APH1B_ENST00000380343.4_Missense_Mutation_p.I32F	p.I32F	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN			1	164	+			32					A8K589|Q564N3|Q6UWQ1|Q9H0S0	Missense_Mutation	SNP	ENST00000261879.5	37	c.94A>T	CCDS10184.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.810675	0.32053	.	.	ENSG00000138613	ENST00000380343;ENST00000261879;ENST00000380340	T;T;T	0.54479	0.57;0.57;0.57	4.11	-2.96	0.05547	.	0.513806	0.18742	N	0.132428	T	0.62732	0.2452	M	0.84082	2.675	0.32573	N	0.529528	P;P	0.47841	0.901;0.901	P;P	0.52386	0.697;0.697	T	0.70655	-0.4812	10	0.87932	D	0	-3.412	12.2239	0.54449	0.4012:0.0:0.5988:0.0	.	32;32	Q564N3;Q8WW43	.;APH1B_HUMAN	F	32	ENSP00000369700:I32F;ENSP00000261879:I32F;ENSP00000369697:I32F	ENSP00000261879:I32F	I	+	1	0	APH1B	61356969	0.880000	0.30214	0.108000	0.21378	0.087000	0.18053	0.613000	0.24299	-1.129000	0.02918	-1.478000	0.00992	ATC		0.692	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256337.1	NM_031301		27	53	0	0	0	1	0	27	53				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		3	20	0	0	0	1	0	3	20				
SOAT2	8435	broad.mit.edu	37	12	53512168	53512168	+	Silent	SNP	C	C	T			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr12:53512168C>T	ENST00000301466.3	+	8	873	c.813C>T	c.(811-813)taC>taT	p.Y271Y		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	271					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	TCTCCAGCTACCTCTACTTCC	0.572																																						ENST00000301466.3																			0				endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						c.(811-813)taC>taT		sterol O-acyltransferase 2							221.0	202.0	208.0					12																	53512168		2203	4300	6503	SO:0001819	synonymous_variant	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53512168C>T	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.813C>T	12.37:g.53512168C>T							p.Y271Y	NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN			8	873	+			271					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	ENST00000301466.3	37	c.813C>T	CCDS8847.1																																																																																				0.572	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			15	51	0	0	0	1	0	15	51				
CHRM5	1133	broad.mit.edu	37	15	34355863	34355863	+	Silent	SNP	C	C	T	rs151106804		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr15:34355863C>T	ENST00000383263.5	+	3	1615	c.945C>T	c.(943-945)ccC>ccT	p.P315P	CHRM5_ENST00000557872.1_Silent_p.P315P	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	315					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AGGACAAGCCCGCCACTGACC	0.552																																						ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(943-945)ccC>ccT		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	T		0,4402		0,0,2201	73.0	80.0	78.0		945	-0.7	0.0	15	dbSNP_134	78	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	CHRM5	NM_012125.3		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		315/533	34355863	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	0				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355863C>T		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.945C>T	15.37:g.34355863C>T						CHRM5_ENST00000557872.1_Silent_p.P315P	p.P315P	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	1615	+		all_lung(180;1.76e-08)	315					Q96RG7	Silent	SNP	ENST00000383263.5	37	c.945C>T	CCDS10031.1																																																																																				0.552	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			12	41	0	0	0	1	0	12	41				
UBC	7316	broad.mit.edu	37	12	125397652	125397652	+	Silent	SNP	T	T	C	rs533073686	byFrequency	TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.V146V|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													-|||	5	0.000998403	0.0	0.0	5008	,	,		27834	0.004		0.0	False		,,,				2504	0.001					ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(664-666)gtA>gtG		ubiquitin C							228.0	202.0	211.0					12																	125397652		2203	4299	6502	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397652T>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.666A>G	12.37:g.125397652T>C						UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000538617.1_Intron	p.V222V			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2242	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.666A>G	CCDS9260.1																																																																																				0.512	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		4	97	0	0	0	1	0	4	97				
TNS4	84951	broad.mit.edu	37	17	38645123	38645123	+	Missense_Mutation	SNP	G	G	A	rs200910076		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr17:38645123G>A	ENST00000254051.6	-	3	696	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	180	Ser-rich.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCACCACTGCGAAGGGAGCCG	0.632																																						ENST00000254051.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(538-540)Cgc>Tgc		tensin 4							50.0	61.0	58.0					17																	38645123		2202	4296	6498	SO:0001583	missense	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38645123G>A	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.538C>T	17.37:g.38645123G>A	ENSP00000254051:p.Arg180Cys						p.R180C	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	696	-		Breast(137;0.000496)	180			Ser-rich.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	c.538C>T	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062224	0.36373	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.19105	2.17	5.77	3.76	0.43208	.	0.909290	0.09400	N	0.807418	T	0.17238	0.0414	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.23013	-1.0200	10	0.56958	D	0.05	-18.2787	9.3372	0.38058	0.0732:0.0:0.7837:0.143	.	180	Q8IZW8	TENS4_HUMAN	C	180	ENSP00000254051:R180C	ENSP00000254051:R180C	R	-	1	0	TNS4	35898649	0.007000	0.16637	0.025000	0.17156	0.277000	0.26821	1.569000	0.36428	0.771000	0.33359	-0.214000	0.12660	CGC		0.632	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		28	92	0	0	0	1	0	28	92				
SLC16A2	6567	broad.mit.edu	37	X	73745591	73745591	+	Missense_Mutation	SNP	T	T	C			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chrX:73745591T>C	ENST00000587091.1	+	4	1210	c.1033T>C	c.(1033-1035)Tat>Cat	p.Y345H	SLC16A2_ENST00000276033.5_Missense_Mutation_p.Y419H	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	345					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TCAGATGAAGTATGTGGAGGA	0.507																																						ENST00000276033.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21						c.(1255-1257)Tat>Cat		solute carrier family 16, member 2 (thyroid hormone transporter)	Pyruvic acid(DB00119)						175.0	146.0	156.0					X																	73745591		2203	4300	6503	SO:0001583	missense	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73745591T>C		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1033T>C	X.37:g.73745591T>C	ENSP00000465734:p.Tyr345His					SLC16A2_ENST00000587091.1_Missense_Mutation_p.Y345H	p.Y419H			P36021	MOT8_HUMAN			4	1421	+			345					Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.1255T>C	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	T	1.029	-0.682493	0.03353	.	.	ENSG00000147100	ENST00000276033	T	0.66815	-0.23	4.9	4.9	0.64082	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.063718	0.64402	D	0.000006	T	0.54029	0.1833	L	0.33093	0.98	0.33918	D	0.640553	B	0.13594	0.008	B	0.16289	0.015	T	0.58707	-0.7589	10	0.17832	T	0.49	.	13.7488	0.62894	0.0:0.0:0.0:1.0	.	345	P36021	MOT8_HUMAN	H	419	ENSP00000276033:Y419H	ENSP00000276033:Y419H	Y	+	1	0	SLC16A2	73662316	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	3.693000	0.54735	1.620000	0.50308	0.486000	0.48141	TAT		0.507	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			23	26	0	0	0	1	0	23	26				
EPG5	57724	broad.mit.edu	37	18	43438030	43438030	+	Silent	SNP	G	G	A	rs556306651		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr18:43438030G>A	ENST00000282041.5	-	42	7264	c.7230C>T	c.(7228-7230)tcC>tcT	p.S2410S	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2410					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTTCCTCCACGGAGCTAGGGG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		20492	0.0		0.0	False		,,,				2504	0.001					ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(7228-7230)tcC>tcT		ectopic P-granules autophagy protein 5 homolog (C. elegans)							49.0	49.0	49.0					18																	43438030		1882	4109	5991	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43438030G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.7230C>T	18.37:g.43438030G>A						EPG5_ENST00000585906.1_5'UTR	p.S2410S	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			42	7264	-			2410					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.7230C>T	CCDS11926.2																																																																																				0.468	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		3	22	0	0	0	1	0	3	22				
GLIPR1	11010	broad.mit.edu	37	12	75875623	75875623	+	Missense_Mutation	SNP	C	C	G	rs201262620		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr12:75875623C>G	ENST00000266659.3	+	2	385	c.184C>G	c.(184-186)Cca>Gca	p.P62A	RP11-585P4.5_ENST00000547326.1_RNA	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	62	SCP.				cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						GACTTGGGACCCAGCACTAGC	0.453																																						ENST00000266659.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						c.(184-186)Cca>Gca		GLI pathogenesis-related 1							118.0	117.0	118.0					12																	75875623		2203	4300	6503	SO:0001583	missense	11010				cellular lipid metabolic process	extracellular region|integral to membrane		g.chr12:75875623C>G	U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"""GLI pathogenesis-related 1 (glioma)"""			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.184C>G	12.37:g.75875623C>G	ENSP00000266659:p.Pro62Ala						p.P62A	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN			2	385	+			62					A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	ENST00000266659.3	37	c.184C>G	CCDS9011.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006302	0.35415	.	.	ENSG00000139278	ENST00000266659;ENST00000456650	T;T	0.08370	3.1;3.1	5.92	3.0	0.34707	CAP domain (3);	0.195637	0.46442	D	0.000297	T	0.05456	0.0144	L	0.31420	0.93	0.35081	D	0.763435	B;B	0.15719	0.006;0.014	B;B	0.14578	0.011;0.002	T	0.31668	-0.9935	10	0.15066	T	0.55	.	6.8825	0.24181	0.1305:0.6763:0.1256:0.0676	.	62;62	F6VVE8;P48060	.;GLIP1_HUMAN	A	62	ENSP00000266659:P62A;ENSP00000391144:P62A	ENSP00000266659:P62A	P	+	1	0	GLIPR1	74161890	0.000000	0.05858	0.815000	0.32552	0.912000	0.54170	-0.409000	0.07160	0.813000	0.34350	0.655000	0.94253	CCA		0.453	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405722.1	NM_006851		29	131	0	0	0	1	0	29	131				
TRBV6-7	28600	broad.mit.edu	37	7	142143907	142143907	+	RNA	SNP	T	T	C			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr7:142143907T>C	ENST00000390373.2	-	0	88									T cell receptor beta variable 6-7 (non-functional)																		CTTCAGGACGTGGAATTTTGG	0.527																																						ENST00000390373.2																			0																																																			0							g.chr7:142143907T>C	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253188	ENSG00000253188		"""T cell receptors / TRB locus"""	12232	other	T cell receptor gene			"""T cell receptor beta variable 6-7"""			8650574	Standard	NG_001333		Approved	TRBV67, TCRBV13S8P, TCRBV6S7			OTTHUMG00000158511		7.37:g.142143907T>C														0	88	-									RNA	SNP	ENST00000390373.2	37																																																																																						0.527	TRBV6-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351217.2	NG_001333		5	92	0	0	0	1	0	5	92				
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr7:142168862A>G	ENST00000454561.2	-	0	183									T cell receptor beta variable 5-4																		TGGGCCAGGCAGCACTGCACC	0.597																																						ENST00000454561.2																			0																				28.0	28.0	28.0					7																	142168862		1933	4131	6064			0							g.chr7:142168862A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168862A>G														0	183	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.597	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		4	22	0	0	0	1	0	4	22				
SLC43A2	124935	broad.mit.edu	37	17	1486509	1486509	+	Missense_Mutation	SNP	G	G	C			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr17:1486509G>C	ENST00000301335.5	-	11	1427	c.1339C>G	c.(1339-1341)Ctg>Gtg	p.L447V	SLC43A2_ENST00000382147.4_Missense_Mutation_p.L451V|SLC43A2_ENST00000571650.1_Missense_Mutation_p.L451V|SLC43A2_ENST00000412517.3_Missense_Mutation_p.L310V	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	447					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TGGAGAGGCAGGTTGGGAATG	0.577																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(1351-1353)Ctg>Gtg		solute carrier family 43 (amino acid system L transporter), member 2							71.0	73.0	72.0					17																	1486509		2203	4300	6503	SO:0001583	missense	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1486509G>C	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.1339C>G	17.37:g.1486509G>C	ENSP00000301335:p.Leu447Val					SLC43A2_ENST00000301335.4_Missense_Mutation_p.L447V|SLC43A2_ENST00000382147.4_Missense_Mutation_p.L451V|SLC43A2_ENST00000412517.3_Missense_Mutation_p.L310V	p.L451V			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	12	1657	-			447					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	ENST00000301335.5	37	c.1351C>G	CCDS11006.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941148	0.73557	.	.	ENSG00000167703	ENST00000301335;ENST00000382147;ENST00000412517	D;D;D	0.81659	-1.52;-1.52;-1.52	5.67	3.68	0.42216	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.88826	0.6542	M	0.83312	2.635	0.54753	D	0.999984	D;D	0.89917	1.0;0.985	D;P	0.80764	0.994;0.747	D	0.87485	0.2423	10	0.33141	T	0.24	-14.1775	12.9678	0.58494	0.1327:0.0:0.8673:0.0	.	447;451	Q8N370;Q8N370-3	LAT4_HUMAN;.	V	447;451;310	ENSP00000301335:L447V;ENSP00000371582:L451V;ENSP00000408284:L310V	ENSP00000301335:L447V	L	-	1	2	SLC43A2	1433259	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.797000	0.62503	0.869000	0.35703	-0.150000	0.13652	CTG		0.577	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		15	39	0	0	0	1	0	15	39				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	77	0	0	0	1	0	5	77				
CROCCP2	84809	broad.mit.edu	37	1	16953672	16953672	+	lincRNA	SNP	C	C	T	rs3738597	byFrequency	TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr1:16953672C>T	ENST00000412962.1	-	0	589							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCGGTCTTCTCGGCCTGCAGC	0.652																																						ENST00000412962.1																			0																																																			0							g.chr1:16953672C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16953672C>T														0	589	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.652	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	45	0	0	0	1	0	5	45				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	42	0	0	0	1	0	4	42				
RGL3	57139	broad.mit.edu	37	19	11512789	11512789	+	Missense_Mutation	SNP	C	C	T			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr19:11512789C>T	ENST00000380456.3	-	13	1445	c.1382G>A	c.(1381-1383)cGc>cAc	p.R461H	RGL3_ENST00000393423.3_Missense_Mutation_p.R461H	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	461	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CTGCTGGATGCGGGCCAGGAT	0.667																																					GBM(174;751 2067 17998 27979 33959)	ENST00000380456.3																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						c.(1381-1383)cGc>cAc		ral guanine nucleotide dissociation stimulator-like 3							19.0	24.0	22.0					19																	11512789		2202	4295	6497	SO:0001583	missense	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11512789C>T	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1382G>A	19.37:g.11512789C>T	ENSP00000369823:p.Arg461His					RGL3_ENST00000393423.3_Missense_Mutation_p.R461H	p.R461H	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN			13	1445	-			461			Ras-GEF.		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	ENST00000380456.3	37	c.1382G>A	CCDS32910.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288240	0.40494	.	.	ENSG00000205517	ENST00000342684;ENST00000393423;ENST00000380456	T;T	0.29655	1.56;1.56	4.6	1.14	0.20703	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.276343	0.36066	N	0.002813	T	0.18383	0.0441	L	0.37561	1.115	0.30920	N	0.728077	B;B;B;B	0.28082	0.169;0.11;0.169;0.2	B;B;B;B	0.19391	0.023;0.011;0.023;0.025	T	0.09509	-1.0671	10	0.62326	D	0.03	.	3.9304	0.09283	0.1565:0.4699:0.0:0.3736	.	461;461;461;258	Q3MIN7;B5ME84;B7ZL22;Q8TEP0	RGL3_HUMAN;.;.;.	H	258;461;461	ENSP00000377075:R461H;ENSP00000369823:R461H	ENSP00000344665:R258H	R	-	2	0	RGL3	11373789	1.000000	0.71417	0.726000	0.30738	0.994000	0.84299	1.686000	0.37669	0.036000	0.15547	0.557000	0.71058	CGC		0.667	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3	XM_290867		11	16	0	0	0	1	0	11	16				
INTS4	92105	broad.mit.edu	37	11	77635895	77635895	+	Missense_Mutation	SNP	C	C	A			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr11:77635895C>A	ENST00000534064.1	-	12	1449	c.1415G>T	c.(1414-1416)tGc>tTc	p.C472F	INTS4_ENST00000525931.1_5'UTR|INTS4_ENST00000529807.1_Missense_Mutation_p.C472F	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	472					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			ATTAGTACAGCATAAGAGTTC	0.383																																						ENST00000534064.1																		INTS4/GAB2(2)	0				NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32						c.(1414-1416)tGc>tTc		integrator complex subunit 4							23.0	24.0	24.0					11																	77635895		2195	4285	6480	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77635895C>A	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1415G>T	11.37:g.77635895C>A	ENSP00000434466:p.Cys472Phe					INTS4_ENST00000529807.1_Missense_Mutation_p.C472F|INTS4_ENST00000525931.1_5'UTR	p.C472F	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		12	1449	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		472					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.1415G>T	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871474	0.72065	.	.	ENSG00000149262	ENST00000534064;ENST00000354849;ENST00000529807	T;T	0.41065	1.01;1.01	4.51	4.51	0.55191	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.58423	-0.7639	10	0.62326	D	0.03	-3.2553	17.7819	0.88526	0.0:1.0:0.0:0.0	.	472	Q96HW7	INT4_HUMAN	F	472;323;472	ENSP00000434466:C472F;ENSP00000433644:C472F	ENSP00000346913:C323F	C	-	2	0	INTS4	77313543	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.171000	0.77595	2.489000	0.83994	0.484000	0.47621	TGC		0.383	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547		3	26	1	0	0.004672	1	0.00494154	3	26				
CD209	30835	broad.mit.edu	37	19	7810767	7810767	+	Missense_Mutation	SNP	G	G	A	rs146082308		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr19:7810767G>A	ENST00000315599.7	-	4	407	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.R129W(4)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTTCAGCCGGGTCAGCTCC	0.567																																						ENST00000315599.7																			4	Substitution - Missense(4)	p.R129W(4)	endometrium(4)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(385-387)Cgg>Tgg		CD209 molecule							89.0	92.0	91.0					19																	7810767		2202	4297	6499	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810767G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.385C>T	19.37:g.7810767G>A	ENSP00000315477:p.Arg129Trp					CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000394161.5_Intron	p.R129W	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			4	407	-			129			7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.385C>T	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167766	0.38315	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;2.27	1.37	0.149	0.14863	.	.	.	.	.	T	0.24236	0.0587	L	0.28192	0.835	0.09310	N	1	B;B;D;D;B;D;B;B;B;B	0.64830	0.021;0.005;0.968;0.994;0.012;0.985;0.007;0.011;0.01;0.012	B;B;P;P;B;P;B;B;B;B	0.54815	0.008;0.008;0.534;0.761;0.005;0.663;0.002;0.006;0.003;0.009	T	0.12016	-1.0564	9	0.56958	D	0.05	.	4.5792	0.12250	0.0:0.0:0.6254:0.3746	.	129;105;85;85;105;129;129;105;105;129	Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;CD209_HUMAN;.;.;.	W	129;129;105;85;129;85;113	ENSP00000315477:R129W;ENSP00000346373:R129W;ENSP00000315407:R105W;ENSP00000204801:R85W;ENSP00000301357:R85W	ENSP00000204801:R85W	R	-	1	2	CD209	7716767	0.000000	0.05858	0.010000	0.14722	0.462000	0.32619	-0.010000	0.12743	0.103000	0.17682	0.449000	0.29647	CGG		0.567	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		4	202	0	0	0	1	0	4	202				
OXA1L	5018	broad.mit.edu	37	14	23235889	23235889	+	Missense_Mutation	SNP	A	A	T			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr14:23235889A>T	ENST00000285848.5	+	1	159	c.159A>T	c.(157-159)aaA>aaT	p.K53N	OXA1L_ENST00000358043.5_5'Flank|OXA1L_ENST00000604262.1_5'UTR|OXA1L_ENST00000412791.1_5'Flank|CTD-2555K7.2_ENST00000554857.1_RNA|CTD-2555K7.2_ENST00000553792.1_RNA|CTD-2555K7.2_ENST00000554730.1_RNA	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CAGGCGCAAAAGCAAGTCCTC	0.592																																						ENST00000285848.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19						c.(157-159)aaA>aaT		oxidase (cytochrome c) assembly 1-like							98.0	109.0	105.0					14																	23235889		2203	4300	6503	SO:0001583	missense	5018				aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding	g.chr14:23235889A>T		CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000285848.5:c.159A>T	14.37:g.23235889A>T	ENSP00000285848:p.Lys53Asn					OXA1L_ENST00000604262.1_5'UTR	p.K53N	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN		GBM - Glioblastoma multiforme(265;0.0096)	1	159	+	all_cancers(95;8.44e-05)		0					B4DPA2	Missense_Mutation	SNP	ENST00000285848.5	37	c.159A>T	CCDS9573.1	.	.	.	.	.	.	.	.	.	.	A	9.410	1.080290	0.20309	.	.	ENSG00000155463	ENST00000285848	T	0.31510	1.49	5.05	-6.66	0.01789	.	1.178910	0.06650	N	0.762502	T	0.11324	0.0276	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.21348	-1.0248	10	0.42905	T	0.14	0.7189	1.6716	0.02813	0.4734:0.1888:0.0973:0.2405	.	53	Q2M1J6	.	N	53	ENSP00000285848:K53N	ENSP00000285848:K53N	K	+	3	2	OXA1L	22305729	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.924000	0.03996	-1.098000	0.03038	-1.831000	0.00592	AAA		0.592	OXA1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071630.2	NM_005015		34	85	0	0	0	1	0	34	85				
GAS2L2	246176	broad.mit.edu	37	17	34072229	34072229	+	Missense_Mutation	SNP	G	G	A			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr17:34072229G>A	ENST00000254466.6	-	6	2314	c.2287C>T	c.(2287-2289)Cgg>Tgg	p.R763W	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R747W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	763					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGGGCTTCCGGAGAGTTCTC	0.607																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2287-2289)Cgg>Tgg		growth arrest-specific 2 like 2							92.0	99.0	96.0					17																	34072229		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072229G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2287C>T	17.37:g.34072229G>A	ENSP00000254466:p.Arg763Trp					GAS2L2_ENST00000587565.1_Missense_Mutation_p.R747W	p.R763W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2314	-		Ovarian(249;0.17)	763					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.2287C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490331	0.44249	.	.	ENSG00000132139	ENST00000254466	T	0.23754	1.89	4.56	2.38	0.29361	.	0.265381	0.28712	N	0.014395	T	0.35682	0.0940	L	0.32530	0.975	0.33307	D	0.565625	D	0.89917	1.0	D	0.77004	0.989	T	0.49652	-0.8917	10	0.87932	D	0	-26.056	10.2918	0.43601	0.0:0.0:0.4537:0.5462	.	763	Q8NHY3	GA2L2_HUMAN	W	763	ENSP00000254466:R763W	ENSP00000254466:R763W	R	-	1	2	GAS2L2	31096342	1.000000	0.71417	0.999000	0.59377	0.273000	0.26683	2.800000	0.47900	1.142000	0.42291	0.462000	0.41574	CGG		0.607	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		39	99	0	0	0	1	0	39	99				
RNF20	56254	broad.mit.edu	37	9	104302620	104302620	+	Missense_Mutation	SNP	T	T	A			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr9:104302620T>A	ENST00000389120.3	+	3	355	c.265T>A	c.(265-267)Tca>Aca	p.S89T		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	89					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TGATGATGCCTCACTATTGAT	0.423																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(265-267)Tca>Aca		ring finger protein 20, E3 ubiquitin protein ligase							181.0	166.0	171.0					9																	104302620		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104302620T>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.265T>A	9.37:g.104302620T>A	ENSP00000373772:p.Ser89Thr						p.S89T	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	3	355	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	89					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.265T>A	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	T	9.433	1.086080	0.20390	.	.	ENSG00000155827	ENST00000389120;ENST00000478347;ENST00000488264;ENST00000374819;ENST00000479306;ENST00000466817	T	0.26518	1.73	4.17	4.17	0.49024	.	0.113654	0.64402	D	0.000012	T	0.24928	0.0605	N	0.13299	0.325	0.48087	D	0.999583	P	0.52842	0.956	P	0.62184	0.899	T	0.02588	-1.1137	10	0.02654	T	1	-5.337	13.335	0.60512	0.0:0.0:0.0:1.0	.	89	Q5VTR2	BRE1A_HUMAN	T	89;77;75;89;89;89	ENSP00000373772:S89T	ENSP00000363952:S89T	S	+	1	0	RNF20	103342441	1.000000	0.71417	0.992000	0.48379	0.942000	0.58702	5.218000	0.65257	1.895000	0.54865	0.379000	0.24179	TCA		0.423	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		4	184	0	0	0	1	0	4	184				
ZNF398	57541	broad.mit.edu	37	7	148873589	148873589	+	Missense_Mutation	SNP	T	T	C			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr7:148873589T>C	ENST00000475153.1	+	5	958	c.691T>C	c.(691-693)Tct>Cct	p.S231P	ZNF398_ENST00000335901.4_Missense_Mutation_p.S60P|ZNF398_ENST00000540950.1_Missense_Mutation_p.S236P|ZNF398_ENST00000483892.1_Missense_Mutation_p.S60P|ZNF398_ENST00000491174.1_Missense_Mutation_p.S60P|ZNF398_ENST00000426851.2_Missense_Mutation_p.S60P|ZNF398_ENST00000420008.2_Missense_Mutation_p.S60P			Q8TD17	ZN398_HUMAN	zinc finger protein 398	231					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			AGATATTCTGTCTTGGATTAA	0.403																																						ENST00000420008.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(178-180)Tct>Cct		zinc finger protein 398							95.0	107.0	103.0					7																	148873589		2203	4300	6503	SO:0001583	missense	0				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148873589T>C	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.691T>C	7.37:g.148873589T>C	ENSP00000420418:p.Ser231Pro					ZNF398_ENST00000491174.1_Missense_Mutation_p.S60P|ZNF398_ENST00000540950.1_Missense_Mutation_p.S236P|ZNF398_ENST00000475153.1_Missense_Mutation_p.S231P|ZNF398_ENST00000335901.4_Missense_Mutation_p.S60P|ZNF398_ENST00000483892.1_Missense_Mutation_p.S60P|ZNF398_ENST00000426851.2_Missense_Mutation_p.S60P	p.S60P	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		5	966	+	Melanoma(164;0.15)		231					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.178T>C	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.343186	0.82022	.	.	ENSG00000197024	ENST00000426851;ENST00000420008;ENST00000475153;ENST00000483892;ENST00000491174;ENST00000540950;ENST00000335901	T;T;T;T;T;T;T	0.07567	3.18;3.18;3.24;3.18;3.18;3.24;3.18	5.31	5.31	0.75309	.	0.000000	0.47093	D	0.000241	T	0.24509	0.0594	M	0.71581	2.175	0.35506	D	0.800167	D;D	0.67145	0.995;0.996	D;P	0.72982	0.979;0.806	T	0.19386	-1.0307	10	0.29301	T	0.29	-15.5431	11.5786	0.50879	0.0:0.0:0.0:1.0	.	236;231	B4DXA9;Q8TD17	.;ZN398_HUMAN	P	60;60;231;60;60;236;60	ENSP00000389972:S60P;ENSP00000416751:S60P;ENSP00000420418:S231P;ENSP00000418564:S60P;ENSP00000419391:S60P;ENSP00000439340:S236P;ENSP00000338984:S60P	ENSP00000338984:S60P	S	+	1	0	ZNF398	148504522	0.819000	0.29175	1.000000	0.80357	0.981000	0.71138	3.139000	0.50577	2.236000	0.73375	0.533000	0.62120	TCT		0.403	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			3	38	0	0	0	1	0	3	38				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	48	0	0	0	1	0	4	48				
DSG3	1830	broad.mit.edu	37	18	29046692	29046692	+	Silent	SNP	C	C	T	rs375966622		TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr18:29046692C>T	ENST00000257189.4	+	11	1694	c.1611C>T	c.(1609-1611)gcC>gcT	p.A537A		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	537					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGTTGCCTGCCGTATGGAGTA	0.413																																						ENST00000257189.4																			0				breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62						c.(1609-1611)gcC>gcT		desmoglein 3		C		0,4406		0,0,2203	88.0	84.0	85.0		1611	-11.5	0.0	18		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DSG3	NM_001944.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		537/1000	29046692	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29046692C>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1611C>T	18.37:g.29046692C>T							p.A537A	NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		11	1694	+			537					A8K2V2	Silent	SNP	ENST00000257189.4	37	c.1611C>T	CCDS11898.1																																																																																				0.413	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		16	55	0	0	0	1	0	16	55				
SIN3B	23309	broad.mit.edu	37	19	16973254	16973254	+	Missense_Mutation	SNP	G	G	A			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr19:16973254G>A	ENST00000248054.5	+	9	1171	c.1150G>A	c.(1150-1152)Ggg>Agg	p.G384R	SIN3B_ENST00000379803.1_Missense_Mutation_p.G384R|SIN3B_ENST00000595541.1_5'Flank					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATCCGGGGACGGGATAAGCCG	0.542																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1150-1152)Ggg>Agg		SIN3 transcription regulator family member B							75.0	72.0	73.0					19																	16973254		2203	4300	6503	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16973254G>A	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1150G>A	19.37:g.16973254G>A	ENSP00000248054:p.Gly384Arg					SIN3B_ENST00000248054.5_Missense_Mutation_p.G384R	p.G384R	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			9	1164	+			384			Interaction with NCOR1 (By similarity).			Missense_Mutation	SNP	ENST00000248054.5	37	c.1150G>A		.	.	.	.	.	.	.	.	.	.	G	20.5	4.005784	0.74932	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.45668	0.89;0.9	4.73	3.7	0.42460	.	0.105716	0.64402	D	0.000004	T	0.59810	0.2221	M	0.78801	2.425	0.80722	D	1	D;P	0.76494	0.999;0.953	D;P	0.70016	0.967;0.475	T	0.59139	-0.7510	10	0.16420	T	0.52	-9.6331	12.3868	0.55336	0.0823:0.0:0.9177:0.0	.	384;384	O75182-2;O75182	.;SIN3B_HUMAN	R	384	ENSP00000369131:G384R;ENSP00000248054:G384R	ENSP00000248054:G384R	G	+	1	0	SIN3B	16834254	1.000000	0.71417	0.014000	0.15608	0.779000	0.44077	7.773000	0.85462	0.984000	0.38629	0.561000	0.74099	GGG		0.542	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		14	34	0	0	0	1	0	14	34				
ZNF841	284371	broad.mit.edu	37	19	52568806	52568806	+	Missense_Mutation	SNP	G	G	A			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr19:52568806G>A	ENST00000426391.2	-	5	2532	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.R777C|CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000389534.4_Missense_Mutation_p.R777C|ZNF841_ENST00000359973.2_Missense_Mutation_p.R353C			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AGGCCTGAGCGATAACGGAAG	0.428																																						ENST00000389534.4																			0				breast(1)|endometrium(4)|kidney(3)|lung(3)	11						c.(2329-2331)Cgc>Tgc		zinc finger protein 841							49.0	45.0	46.0					19																	52568806		692	1591	2283	SO:0001583	missense	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52568806G>A	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1981C>T	19.37:g.52568806G>A	ENSP00000415453:p.Arg661Cys					ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Missense_Mutation_p.R353C|ZNF841_ENST00000594295.1_Missense_Mutation_p.R777C|ZNF841_ENST00000426391.2_Missense_Mutation_p.R661C	p.R777C	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN			7	2788	-			661					B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37	c.2329C>T		.	.	.	.	.	.	.	.	.	.	G	13.62	2.290071	0.40494	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.16073	2.37;2.37;2.37	2.02	-2.69	0.06022	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14657	0.0354	L	0.45422	1.42	0.09310	N	1	D;D;D	0.71674	0.998;0.989;0.994	P;P;B	0.49528	0.614;0.513;0.323	T	0.06698	-1.0812	9	0.41790	T	0.15	.	1.2992	0.02076	0.1673:0.1254:0.3729:0.3344	.	777;353;661	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	C	777;661;353	ENSP00000374185:R777C;ENSP00000415453:R661C;ENSP00000353060:R353C	ENSP00000353060:R353C	R	-	1	0	ZNF841	57260618	0.000000	0.05858	0.000000	0.03702	0.407000	0.30961	-1.117000	0.03283	-1.000000	0.03438	0.313000	0.20887	CGC		0.428	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		3	32	0	0	0	1	0	3	32				
PHYH	5264	broad.mit.edu	37	10	13336427	13336427	+	Splice_Site	SNP	C	C	T			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr10:13336427C>T	ENST00000263038.4	-	4	473		c.e4+1		PHYH_ENST00000396913.2_Splice_Site|PHYH_ENST00000396920.3_Splice_Site	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase						cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TGGTCTCTGACCTCGGGGAGA	0.507																																						ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25						c.e4+1		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)						118.0	97.0	104.0					10																	13336427		2203	4300	6503	SO:0001630	splice_region_variant	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13336427C>T		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.414+1G>A	10.37:g.13336427C>T						PHYH_ENST00000396913.2_Splice_Site|PHYH_ENST00000263038.4_Splice_Site				O14832	PAHX_HUMAN			4	762	-		Ovarian(717;0.0448)						A8MTS8|B1ALH5	Splice_Site	SNP	ENST00000263038.4	37		CCDS7097.1	.	.	.	.	.	.	.	.	.	.	.	18.16	3.562846	0.65538	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920;ENST00000453759;ENST00000479604	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5992	0.88021	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHYH	13376433	1.000000	0.71417	0.991000	0.47740	0.666000	0.39218	7.582000	0.82546	2.395000	0.81488	0.650000	0.86243	.		0.507	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2		Intron	9	29	0	0	0	1	0	9	29				
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	5						3	5	---	---	---	---
CARHSP1	23589	broad.mit.edu	37	16	8949166	8949169	+	Frame_Shift_Del	DEL	ACAT	ACAT	-			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr16:8949166_8949169delACAT	ENST00000396593.2	-	4	655_658	c.296_299delATGT	c.(295-300)tatgtcfs	p.YV99fs	CARHSP1_ENST00000311052.5_Frame_Shift_Del_p.YV99fs|CARHSP1_ENST00000567554.1_Frame_Shift_Del_p.YV99fs|RP11-77H9.5_ENST00000564919.1_RNA|RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000561530.1_Frame_Shift_Del_p.YV99fs	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	99	CSD.				intracellular signal transduction (GO:0035556)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|P granule (GO:0043186)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|phosphatase binding (GO:0019902)			endometrium(2)|lung(1)	3						TTCCACTGGGACATACTCCCCTTC	0.569																																						ENST00000396593.2																			0				endometrium(2)|lung(1)	3						c.(295-300)tcfs		calcium regulated heat stable protein 1, 24kDa																																				SO:0001589	frameshift_variant	23589				intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding	g.chr16:8949166_8949169delACAT	AF115345	CCDS10537.1	16p13.2	2008-02-05	2002-08-29		ENSG00000153048	ENSG00000153048			17150	protein-coding gene	gene with protein product			"""calcium regulated heat stable protein 1 (24kD)"""			9712905	Standard	NM_014316		Approved	CRHSP-24, CSDC1	uc031quz.1	Q9Y2V2	OTTHUMG00000129695	ENST00000396593.2:c.296_299delATGT	16.37:g.8949166_8949169delACAT	ENSP00000379838:p.Tyr99fs					RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000561530.1_Frame_Shift_Del_p.YV99fs|CARHSP1_ENST00000311052.5_Frame_Shift_Del_p.YV99fs|CARHSP1_ENST00000567554.1_Frame_Shift_Del_p.YV99fs	p.YV99fs	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN			4	655_658	-			99			CSD.		B2R4C3|D3DUF5|Q2YDX5|Q9BQ53	Frame_Shift_Del	DEL	ENST00000396593.2	37	c.296_299delATGT	CCDS10537.1																																																																																				0.569	CARHSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251902.1	NM_014316		7	32						7	32	---	---	---	---
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs397961350|rs59933375|rs80104188	byFrequency	TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749							Q3MJ40	C144B_HUMAN	coiled-coil domain containing 144B (pseudogene)											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243														2618	0.522764	0.528	0.4683	5008	,	,		15585	0.6756		0.4294	False		,,,				2504	0.4928					ENST00000442583.1																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36																																														0							g.chr17:18498497_18498498insA	AK093811		17p11.2	2012-11-19	2011-09-02		ENSG00000154874	ENSG00000154874			26704	pseudogene	pseudogene			"""coiled-coil domain containing 144B"""			11997339	Standard	NR_036647		Approved	FLJ36492	uc002guc.2	Q3MJ40	OTTHUMG00000059531		17.37:g.18498508_18498508dupA														0	749	-								Q6P5Q3|Q8N200	RNA	INS	ENST00000442583.1	37																																																																																						0.243	CCDC144B-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132102.1	NM_182568		2	4						2	4	---	---	---	---
MYH14	79784	broad.mit.edu	37	19	50762446	50762446	+	Frame_Shift_Del	DEL	A	A	-			TCGA-TP-A8TT-01A-12D-A41K-08	TCGA-TP-A8TT-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8c79fa3-a242-4536-90de-33daeb65c445	34b3bfff-3049-4177-99a4-9ac6332a5ce9	g.chr19:50762446delA	ENST00000596571.1	+	16	2155	c.2155delA	c.(2155-2157)aacfs	p.N719fs	MYH14_ENST00000440075.2_Frame_Shift_Del_p.N760fs|MYH14_ENST00000262269.8_Frame_Shift_Del_p.N760fs|MYH14_ENST00000598205.1_Frame_Shift_Del_p.N727fs|MYH14_ENST00000376970.2_Frame_Shift_Del_p.N752fs|MYH14_ENST00000601313.1_Frame_Shift_Del_p.N760fs|MYH14_ENST00000425460.1_Frame_Shift_Del_p.N727fs			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	719	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCTTCGCTGCAACGGGGTCCT	0.711																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2278-2280)acfs		myosin, heavy chain 14, non-muscle							11.0	15.0	14.0					19																	50762446		2171	4262	6433	SO:0001589	frameshift_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50762446delA	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2155delA	19.37:g.50762446delA	ENSP00000472819:p.Asn719fs					MYH14_ENST00000376970.2_Frame_Shift_Del_p.N752fs|MYH14_ENST00000601313.1_Frame_Shift_Del_p.N760fs|MYH14_ENST00000598205.1_Frame_Shift_Del_p.N727fs|MYH14_ENST00000596571.1_Frame_Shift_Del_p.N719fs|MYH14_ENST00000425460.1_Frame_Shift_Del_p.N727fs|MYH14_ENST00000262269.8_Frame_Shift_Del_p.N760fs	p.N760fs			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	19	2325	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	719			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Frame_Shift_Del	DEL	ENST00000596571.1	37	c.2278delA	CCDS59411.1																																																																																				0.711	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		2	4						2	4	---	---	---	---
