#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
ANKRD40	91369	broad.mit.edu	37	17	48777244	48777244	+	Missense_Mutation	SNP	T	T	A	rs199734034		TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr17:48777244T>A	ENST00000285243.6	-	3	563	c.294A>T	c.(292-294)gaA>gaT	p.E98D		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	98										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			catcatcatcTTCTTCTTCCA	0.398																																						ENST00000285243.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(292-294)gaA>gaT		ankyrin repeat domain 40							29.0	26.0	27.0					17																	48777244		2203	4300	6503	SO:0001583	missense	91369							g.chr17:48777244T>A	BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"""Ankyrin repeat domain containing"""	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.294A>T	17.37:g.48777244T>A	ENSP00000285243:p.Glu98Asp						p.E98D	NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.03e-09)		3	563	-			98					Q96E32	Missense_Mutation	SNP	ENST00000285243.6	37	c.294A>T	CCDS11572.1	.	.	.	.	.	.	.	.	.	.	t	7.567	0.666021	0.14710	.	.	ENSG00000154945	ENST00000285243	T	0.24151	1.87	.	.	.	Ankyrin repeat-containing domain (1);	0.409721	0.13474	U	0.385212	T	0.11879	0.0289	N	0.22421	0.69	0.30827	N	0.737128	B	0.29646	0.253	B	0.20384	0.029	T	0.35276	-0.9795	8	0.12103	T	0.63	.	.	.	.	.	98	Q6AI12	ANR40_HUMAN	D	98	ENSP00000285243:E98D	ENSP00000285243:E98D	E	-	3	2	ANKRD40	46132243	0.034000	0.19679	0.742000	0.31022	0.933000	0.57130	0.056000	0.14256	0.056000	0.16144	0.055000	0.15244	GAA		0.398	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368201.2	NM_052855		4	15	0	0	0	1	0	4	15				
FBN3	84467	broad.mit.edu	37	19	8161784	8161784	+	Silent	SNP	C	C	T	rs80293030	byFrequency	TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr19:8161784C>T	ENST00000600128.1	-	43	5808	c.5394G>A	c.(5392-5394)tcG>tcA	p.S1798S	FBN3_ENST00000601739.1_Silent_p.S1798S|FBN3_ENST00000270509.2_Silent_p.S1798S			Q75N90	FBN3_HUMAN	fibrillin 3	1798	EGF-like 27; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.S1798S(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCCGCCTGGCGACAGTTTGT	0.617													C|||	21	0.00419329	0.0144	0.0014	5008	,	,		18133	0.0		0.001	False		,,,				2504	0.0					ENST00000600128.1																			1	Substitution - coding silent(1)	p.S1798S(1)	lung(1)	NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(5392-5394)tcG>tcA		fibrillin 3		C		64,4342	59.3+/-96.0	0,64,2139	79.0	75.0	76.0		5394	-6.8	0.0	19	dbSNP_132	76	0,8600		0,0,4300	no	coding-synonymous	FBN3	NM_032447.3		0,64,6439	TT,TC,CC		0.0,1.4526,0.4921		1798/2810	8161784	64,12942	2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8161784C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5394G>A	19.37:g.8161784C>T						FBN3_ENST00000601739.1_Silent_p.S1798S|FBN3_ENST00000270509.2_Silent_p.S1798S	p.S1798S			Q75N90	FBN3_HUMAN			43	5808	-			1798			EGF-like 27; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.5394G>A	CCDS12196.1																																																																																				0.617	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		14	43	0	0	0	1	0	14	43				
SERPINA4	5267	broad.mit.edu	37	14	95030303	95030303	+	Missense_Mutation	SNP	G	G	A	rs373176783		TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr14:95030303G>A	ENST00000557004.1	+	2	905	c.484G>A	c.(484-486)Gtc>Atc	p.V162I	SERPINA4_ENST00000298841.5_Missense_Mutation_p.V162I|SERPINA4_ENST00000555095.1_Missense_Mutation_p.V162I|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	162					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CACCATGGCCGTCTATGAGGC	0.522																																						ENST00000557004.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46						c.(484-486)Gtc>Atc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	164.0	147.0	153.0		484	-2.2	0.0	14		153	0,8600		0,0,4300	no	missense	SERPINA4	NM_006215.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	162/428	95030303	1,13005	2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95030303G>A	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.484G>A	14.37:g.95030303G>A	ENSP00000450838:p.Val162Ile					SERPINA4_ENST00000555095.1_Missense_Mutation_p.V162I|SERPINA4_ENST00000298841.5_Missense_Mutation_p.V162I|SERPINA5_ENST00000553780.1_Intron	p.V162I			P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	905	+			162					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.484G>A	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990768	0.35131	2.27E-4	0.0	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84660	-1.88;-1.88;-1.88	4.51	-2.23	0.06930	Serpin domain (3);	0.630534	0.14619	N	0.308553	T	0.69424	0.3109	N	0.24115	0.695	0.09310	N	0.999991	P;B	0.34629	0.46;0.319	B;B	0.32805	0.153;0.078	T	0.61332	-0.7084	10	0.62326	D	0.03	.	5.2934	0.15739	0.0:0.2332:0.2608:0.506	.	162;162	B2R815;P29622	.;KAIN_HUMAN	I	162	ENSP00000450838:V162I;ENSP00000451172:V162I;ENSP00000298841:V162I	ENSP00000298841:V162I	V	+	1	0	SERPINA4	94100056	0.000000	0.05858	0.024000	0.17045	0.015000	0.08874	-0.507000	0.06352	-0.044000	0.13491	-0.264000	0.10439	GTC		0.522	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		46	94	0	0	0	1	0	46	94				
KIAA0907	22889	broad.mit.edu	37	1	155896893	155896893	+	Splice_Site	SNP	A	A	C			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr1:155896893A>C	ENST00000368321.3	-	5	541		c.e5+1		KIAA0907_ENST00000482337.1_Splice_Site|SCARNA4_ENST00000516999.1_RNA|KIAA0907_ENST00000368319.3_Splice_Site|KIAA0907_ENST00000368320.3_Splice_Site	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907								RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			AACATTACTTACTGTCCACTA	0.423																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.e5+1		KIAA0907							118.0	100.0	106.0					1																	155896893		2203	4300	6503	SO:0001630	splice_region_variant	22889							g.chr1:155896893A>C	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.517+1T>G	1.37:g.155896893A>C						KIAA0907_ENST00000368319.3_Splice_Site|KIAA0907_ENST00000368321.3_Splice_Site|KIAA0907_ENST00000482337.1_Splice_Site				Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		5	543	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)							O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Splice_Site	SNP	ENST00000368321.3	37		CCDS30885.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273797	0.80580	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3725	0.55261	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0907	154163517	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.761000	0.91691	2.141000	0.66446	0.454000	0.30748	.		0.423	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949	Intron	4	86	0	0	0	1	0	4	86				
GRM1	2911	broad.mit.edu	37	6	146625931	146625931	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr6:146625931C>T	ENST00000282753.1	+	3	1370	c.1135C>T	c.(1135-1137)Cgc>Tgc	p.R379C	GRM1_ENST00000392299.2_Missense_Mutation_p.R379C|GRM1_ENST00000355289.4_Missense_Mutation_p.R379C|GRM1_ENST00000492807.2_Missense_Mutation_p.R379C|GRM1_ENST00000507907.1_Missense_Mutation_p.R379C|GRM1_ENST00000361719.2_Missense_Mutation_p.R379C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	379					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GTTCCAGTGCCGCCTTCCAGG	0.458																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(1135-1137)Cgc>Tgc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						102.0	95.0	97.0					6																	146625931		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146625931C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1135C>T	6.37:g.146625931C>T	ENSP00000282753:p.Arg379Cys					GRM1_ENST00000355289.4_Missense_Mutation_p.R379C|GRM1_ENST00000507907.1_Missense_Mutation_p.R379C|GRM1_ENST00000492807.2_Missense_Mutation_p.R379C|GRM1_ENST00000361719.2_Missense_Mutation_p.R379C|GRM1_ENST00000282753.1_Missense_Mutation_p.R379C	p.R379C			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	4	1605	+		Ovarian(120;0.0387)	379					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1135C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284871	0.80803	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	6.06	5.12	0.69794	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93058	0.7790	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.77004	0.921;0.989;0.921	D	0.93069	0.6481	10	0.72032	D	0.01	.	18.1222	0.89576	0.1282:0.8718:0.0:0.0	.	379;379;379	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	C	379	ENSP00000354896:R379C;ENSP00000376119:R379C;ENSP00000424095:R379C;ENSP00000282753:R379C;ENSP00000347437:R379C;ENSP00000425599:R379C	ENSP00000282753:R379C	R	+	1	0	GRM1	146667624	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.834000	0.55798	2.880000	0.98712	0.650000	0.86243	CGC		0.458	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		14	36	0	0	0	1	0	14	36				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000389561.2_Silent_p.Q2727Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	27	0	0	0	1	0	3	27				
RYR2	6262	broad.mit.edu	37	1	237586430	237586430	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr1:237586430G>A	ENST00000366574.2	+	12	1204	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	RYR2_ENST00000360064.6_Missense_Mutation_p.R294Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R280Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	296	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGCCATTCCGACTACGCCAT	0.418																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(886-888)cGa>cAa		ryanodine receptor 2 (cardiac)							165.0	161.0	162.0					1																	237586430		1934	4135	6069	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237586430G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.887G>A	1.37:g.237586430G>A	ENSP00000355533:p.Arg296Gln					RYR2_ENST00000542537.1_Missense_Mutation_p.R280Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R294Q	p.R296Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		12	1204	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	296			MIR 4.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.887G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	35	5.596093	0.96602	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97430	-4.38;-4.38;-4.38	5.42	5.42	0.78866	MIR motif (2);MIR (2);	0.000000	0.56097	D	0.000026	D	0.98317	0.9442	M	0.87900	2.915	0.80722	D	1	D	0.69078	0.997	P	0.57468	0.821	D	0.99236	1.0883	10	0.87932	D	0	.	19.2044	0.93724	0.0:0.0:1.0:0.0	.	296	Q92736	RYR2_HUMAN	Q	296;294;280	ENSP00000355533:R296Q;ENSP00000353174:R294Q;ENSP00000443798:R280Q	ENSP00000353174:R294Q	R	+	2	0	RYR2	235653053	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.781000	0.99029	2.541000	0.85698	0.655000	0.94253	CGA		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	60	0	0	0	1	0	5	60				
GREB1	9687	broad.mit.edu	37	2	11736314	11736314	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr2:11736314T>C	ENST00000381486.2	+	13	2203	c.1903T>C	c.(1903-1905)Tct>Cct	p.S635P	GREB1_ENST00000234142.5_Missense_Mutation_p.S635P	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	635						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGCTGCCTCTTCTGTCACTAA	0.478																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(1903-1905)Tct>Cct		growth regulation by estrogen in breast cancer 1							107.0	101.0	103.0					2																	11736314		2034	4211	6245	SO:0001583	missense	9687					integral to membrane		g.chr2:11736314T>C		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1903T>C	2.37:g.11736314T>C	ENSP00000370896:p.Ser635Pro					GREB1_ENST00000234142.5_Missense_Mutation_p.S635P	p.S635P	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	13	2203	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		635					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.1903T>C	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.305172	0.60305	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000432985	T;T;T	0.46451	3.2;3.2;0.87	4.95	4.95	0.65309	.	1.092850	0.06903	N	0.806260	T	0.55955	0.1953	L	0.40543	1.245	0.31483	N	0.66693	D;D	0.71674	0.997;0.998	D;P	0.66351	0.943;0.905	T	0.46484	-0.9188	10	0.33940	T	0.23	-5.1662	12.632	0.56663	0.0:0.0:0.0:1.0	.	269;635	C9JIG0;Q4ZG55	.;GREB1_HUMAN	P	635;635;269	ENSP00000370896:S635P;ENSP00000234142:S635P;ENSP00000403886:S269P	ENSP00000234142:S635P	S	+	1	0	GREB1	11653765	0.994000	0.37717	0.537000	0.28052	0.991000	0.79684	3.182000	0.50910	1.977000	0.57605	0.528000	0.53228	TCT		0.478	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		6	66	0	0	0	1	0	6	66				
OR5F1	338674	broad.mit.edu	37	11	55761635	55761635	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr11:55761635A>T	ENST00000278409.1	-	1	466	c.467T>A	c.(466-468)tTc>tAc	p.F156Y		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	156					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTTGACCATGAAGTTCAGCAA	0.502																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(466-468)tTc>tAc		olfactory receptor, family 5, subfamily F, member 1							57.0	55.0	56.0					11																	55761635		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761635A>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.467T>A	11.37:g.55761635A>T	ENSP00000278409:p.Phe156Tyr						p.F156Y	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	466	-	Esophageal squamous(21;0.00448)		156					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.467T>A	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	7.425	0.637461	0.14386	.	.	ENSG00000149133	ENST00000278409	T	0.37058	1.22	2.96	0.724	0.18236	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.16557	0.0398	N	0.05230	-0.09	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.20438	-1.0275	9	0.87932	D	0	.	4.8112	0.13344	0.2374:0.3134:0.4492:0.0	.	156	O95221	OR5F1_HUMAN	Y	156	ENSP00000278409:F156Y	ENSP00000278409:F156Y	F	-	2	0	OR5F1	55518211	0.001000	0.12720	0.974000	0.42286	0.063000	0.16089	1.071000	0.30666	0.379000	0.24794	-1.091000	0.02175	TTC		0.502	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		7	64	0	0	0	1	0	7	64				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	27	0	0	0	1	0	3	27				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	48	1	0	0.00024832	1	0.000265251	3	48				
FAT3	120114	broad.mit.edu	37	11	92495335	92495335	+	Splice_Site	SNP	C	C	T			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr11:92495335C>T	ENST00000298047.6	+	4	4000	c.3983C>T	c.(3982-3984)aCg>aTg	p.T1328M	FAT3_ENST00000525166.1_Splice_Site_p.T1178M|FAT3_ENST00000409404.2_Splice_Site_p.T1328M|RP11-203F8.1_ENST00000529884.1_RNA			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1328	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACATCCTAACGGTAAGATCT	0.398										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.e4+1		FAT atypical cadherin 3							59.0	57.0	58.0					11																	92495335		1891	4120	6011	SO:0001630	splice_region_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92495335C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.3984+1C>T	11.37:g.92495335C>T		TCGA Ovarian(4;0.039)				RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Splice_Site_p.T1328_splice|FAT3_ENST00000525166.1_Splice_Site_p.T1178_splice	p.T1328_splice			Q8TDW7	FAT3_HUMAN			4	4000	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1328			Cadherin 12.		B5MDB0|Q96AU6	Splice_Site	SNP	ENST00000298047.6	37	c.3984_splice		.	.	.	.	.	.	.	.	.	.	C	25.9	4.688225	0.88639	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.56611	0.45;0.45;0.45	5.58	5.58	0.84498	.	.	.	.	.	T	0.76586	0.4008	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79351	-0.1839	9	0.72032	D	0.01	.	19.5733	0.95430	0.0:1.0:0.0:0.0	.	1328	Q8TDW7-3	.	M	1328;1328;1178	ENSP00000298047:T1328M;ENSP00000387040:T1328M;ENSP00000432586:T1178M	ENSP00000298047:T1328M	T	+	2	0	FAT3	92134983	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.755000	0.85180	2.618000	0.88619	0.563000	0.77884	ACG		0.398	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	Missense_Mutation	3	28	0	0	0	1	0	3	28				
ZNF385D	79750	broad.mit.edu	37	3	21478535	21478535	+	Silent	SNP	T	T	G			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr3:21478535T>G	ENST00000281523.2	-	5	1118	c.600A>C	c.(598-600)gcA>gcC	p.A200A	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	200						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GAAGCCGTTTTGCCTTTTCTT	0.478																																						ENST00000281523.2																			0				NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						c.(598-600)gcA>gcC		zinc finger protein 385D							203.0	169.0	181.0					3																	21478535		2203	4300	6503	SO:0001819	synonymous_variant	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21478535T>G	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.600A>C	3.37:g.21478535T>G						ZNF385D_ENST00000494118.1_5'UTR	p.A200A	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN			5	1118	-			200						Silent	SNP	ENST00000281523.2	37	c.600A>C	CCDS2636.1																																																																																				0.478	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		8	82	0	0	0	1	0	8	82				
EIF4ENIF1	56478	broad.mit.edu	37	22	31854494	31854494	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr22:31854494G>T	ENST00000397525.1	-	7	1153	c.930C>A	c.(928-930)ttC>ttA	p.F310L	EIF4ENIF1_ENST00000382180.2_5'Flank|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.F147L|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.F310L|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.F310L	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	310						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.F310L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAAGGTTAAAGAACTCATTAA	0.468																																						ENST00000397525.1																			1	Substitution - Missense(1)	p.F310L(1)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(928-930)ttC>ttA		eukaryotic translation initiation factor 4E nuclear import factor 1							77.0	68.0	71.0					22																	31854494		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31854494G>T	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.930C>A	22.37:g.31854494G>T	ENSP00000380659:p.Phe310Leu					EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.F147L|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.F310L|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.F310L	p.F310L	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			7	1153	-			310					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.930C>A	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612160	0.87258	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671	.	.	.	5.74	5.74	0.90152	.	0.047117	0.85682	D	0.000000	T	0.71169	0.3308	M	0.69823	2.125	0.80722	D	1	D;B	0.63046	0.992;0.068	D;B	0.76071	0.987;0.062	T	0.67906	-0.5549	9	0.27082	T	0.32	-7.64	10.446	0.44495	0.1481:0.0:0.8519:0.0	.	147;310	B1AKL3;Q9NRA8	.;4ET_HUMAN	L	147;310;310;310;310	.	ENSP00000328103:F310L	F	-	3	2	EIF4ENIF1	30184494	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.021000	0.64072	2.723000	0.93209	0.655000	0.94253	TTC		0.468	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		4	36	1	0	0.00909568	1	0.00909568	4	36				
SNURF	8926	broad.mit.edu	37	15	25232034	25232034	+	Intron	SNP	T	T	C	rs7171986	byFrequency	TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr15:25232034T>C	ENST00000551312.2	+	6	1184				SNORD108_ENST00000459332.1_RNA|SNHG14_ENST00000551631.2_RNA|SNORD64_ENST00000386683.1_RNA|SNHG14_ENST00000551361.1_RNA			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame							nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		cacgtgtgtgtgtgtgtgtgt	0.443													T|||	115	0.0229633	0.0832	0.0058	5008	,	,		20342	0.0		0.001	False		,,,				2504	0.0					ENST00000551631.2																			0																				78.0	73.0	75.0					15																	25232034		876	1991	2867	SO:0001627	intron_variant	0							g.chr15:25232034T>C		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000551312.2:c.213+4450T>C	15.37:g.25232034T>C						SNHG14_ENST00000551361.1_RNA		NR_001293.1						0	887	+								A6NCW2	RNA	SNP	ENST00000551312.2	37		CCDS10016.1																																																																																				0.443	SNURF-002	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000413842.1	NM_005678		4	26	0	0	0	1	0	4	26				
SHC1	6464	broad.mit.edu	37	1	154940985	154940985	+	Missense_Mutation	SNP	C	C	T	rs371992948	byFrequency	TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr1:154940985C>T	ENST00000368445.5	-	4	950	c.736G>A	c.(736-738)Gca>Aca	p.A246T	SHC1_ENST00000606391.1_Missense_Mutation_p.A47T|SHC1_ENST00000368449.4_Missense_Mutation_p.A17T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000448116.2_Missense_Mutation_p.A246T	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	246	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGCAGTCTGCGGCCATGAGG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		19286	0.001		0.0	False		,,,				2504	0.001				NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(736-738)Gca>Aca		SHC (Src homology 2 domain containing) transforming protein 1		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	192.0	202.0	199.0		736,406,271,406,736	5.4	1.0	1		199	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	SHC1	NM_001130040.1,NM_001130041.1,NM_001202859.1,NM_003029.4,NM_183001.4	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	246/585,136/474,91/429,136/475,246/584	154940985	1,13005	2203	4300	6503	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154940985C>T	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.736G>A	1.37:g.154940985C>T	ENSP00000357430:p.Ala246Thr					SHC1_ENST00000368445.5_Missense_Mutation_p.A246T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000606391.1_Missense_Mutation_p.A47T|SHC1_ENST00000368449.4_Missense_Mutation_p.A17T	p.A246T	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	956	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		246			PID.		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.736G>A	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827512	0.50845	0.0	1.16E-4	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368449;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000414115;ENST00000444179;ENST00000412170;ENST00000366442	T;T;T;T;T;T;T;T;T	0.32272	2.07;2.07;2.07;2.07;2.07;1.46;2.07;2.07;2.07	5.45	5.45	0.79879	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.124032	0.53938	D	0.000045	T	0.07143	0.0181	N	0.11000	0.08	0.33533	D	0.593833	B;B;B	0.32829	0.386;0.023;0.029	B;B;B	0.29524	0.103;0.009;0.016	T	0.19031	-1.0318	10	0.23891	T	0.37	.	12.4188	0.55508	0.283:0.717:0.0:0.0	.	25;246;246	Q59HB0;P29353-6;P29353	.;.;SHC1_HUMAN	T	246;246;47;136;136;182;17;17;136;136	ENSP00000357430:A246T;ENSP00000401303:A246T;ENSP00000357434:A47T;ENSP00000357438:A136T;ENSP00000357435:A136T;ENSP00000404908:A17T;ENSP00000398864:A17T;ENSP00000398441:A136T;ENSP00000396162:A136T	ENSP00000396162:A136T	A	-	1	0	SHC1	153207609	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.811000	0.27198	2.555000	0.86185	0.467000	0.42956	GCA		0.552	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		5	235	0	0	0	1	0	5	235				
ITGAD	3681	broad.mit.edu	37	16	31414872	31414872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr16:31414872C>T	ENST00000389202.2	+	7	659	c.610C>T	c.(610-612)Caa>Taa	p.Q204*	RP11-120K18.2_ENST00000567545.1_RNA	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	204	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CACCTTCACCCAATTCCGGAC	0.577																																						ENST00000389202.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(610-612)Caa>Taa		integrin, alpha D							111.0	89.0	96.0					16																	31414872		2197	4300	6497	SO:0001587	stop_gained	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31414872C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.610C>T	16.37:g.31414872C>T	ENSP00000373854:p.Gln204*					RP11-120K18.2_ENST00000567545.1_RNA	p.Q204*	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			7	659	+			204			VWFA.		Q15575|Q15576	Nonsense_Mutation	SNP	ENST00000389202.2	37	c.610C>T	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.519937	0.44866	.	.	ENSG00000156886	ENST00000316569;ENST00000444228;ENST00000389202	.	.	.	4.69	-9.39	0.00619	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	9.1545	0.36985	0.3802:0.4272:0.1926:0.0	.	.	.	.	X	68;220;204	.	ENSP00000323325:Q68X	Q	+	1	0	ITGAD	31322373	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-3.729000	0.00381	-3.416000	0.00167	-0.463000	0.05309	CAA		0.577	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		6	68	0	0	0	1	0	6	68				
TSGA13	114960	broad.mit.edu	37	7	130356540	130356540	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr7:130356540T>C	ENST00000456951.1	-	8	1470	c.619A>G	c.(619-621)Acc>Gcc	p.T207A	TSGA13_ENST00000356588.3_Missense_Mutation_p.T207A|COPG2_ENST00000445977.2_5'Flank			Q96PP4	TSG13_HUMAN	testis specific, 13	207										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GGAGCAAAGGTGAGCTGAGGG	0.423																																						ENST00000456951.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(619-621)Acc>Gcc		testis specific, 13							230.0	219.0	223.0					7																	130356540		2203	4300	6503	SO:0001583	missense	114960							g.chr7:130356540T>C	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.619A>G	7.37:g.130356540T>C	ENSP00000406047:p.Thr207Ala					TSGA13_ENST00000356588.3_Missense_Mutation_p.T207A	p.T207A			Q96PP4	TSG13_HUMAN			8	1470	-	Melanoma(18;0.0435)		207					B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	37	c.619A>G	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	T	15.12	2.737749	0.49045	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588	.	.	.	5.57	1.34	0.21922	.	0.862072	0.09999	N	0.728688	T	0.20251	0.0487	N	0.24115	0.695	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.20207	-1.0282	9	0.35671	T	0.21	-0.5736	2.3555	0.04294	0.1499:0.0868:0.1553:0.608	.	207	Q96PP4	TSG13_HUMAN	A	207	.	ENSP00000348996:T207A	T	-	1	0	TSGA13	130007080	0.910000	0.30920	0.859000	0.33776	0.886000	0.51366	0.810000	0.27183	0.934000	0.37316	0.454000	0.30748	ACC		0.423	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		25	115	0	0	0	1	0	25	115				
CNR1	1268	broad.mit.edu	37	6	88854286	88854286	+	Silent	SNP	C	C	T	rs577054667		TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr6:88854286C>T	ENST00000537554.1	-	2	4270	c.708G>A	c.(706-708)gcG>gcA	p.A236A	CNR1_ENST00000468898.1_Silent_p.A203A|CNR1_ENST00000549716.1_Silent_p.A175A|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Silent_p.A236A|CNR1_ENST00000549890.1_Silent_p.A236A|CNR1_ENST00000535130.1_Silent_p.A236A|CNR1_ENST00000369499.2_Silent_p.A236A|CNR1_ENST00000369501.2_Silent_p.A236A	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	236					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.A236A(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCAGGCAAAACGCCACCACGG	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21363	0.0		0.0	False		,,,				2504	0.0					ENST00000537554.1																			2	Substitution - coding silent(2)	p.A236A(2)	large_intestine(1)|endometrium(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(706-708)gcG>gcA		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						67.0	63.0	64.0					6																	88854286		2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854286C>T	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.708G>A	6.37:g.88854286C>T						CNR1_ENST00000549890.1_Silent_p.A236A|CNR1_ENST00000468898.1_Silent_p.A203A|CNR1_ENST00000369501.2_Silent_p.A236A|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Silent_p.A236A|CNR1_ENST00000535130.1_Silent_p.A236A|CNR1_ENST00000428600.2_Silent_p.A236A|CNR1_ENST00000549716.1_Silent_p.A175A	p.A236A	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4270	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	236					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Silent	SNP	ENST00000537554.1	37	c.708G>A	CCDS5015.1																																																																																				0.562	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			3	42	0	0	0	1	0	3	42				
PGBD3	267004	broad.mit.edu	37	10	50724106	50724106	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr10:50724106T>C	ENST00000374127.3	-	2	1256	c.1055A>G	c.(1054-1056)aAt>aGt	p.N352S	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.N820S|PGBD3_ENST00000508005.2_Missense_Mutation_p.N352S|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.N820S|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000603152.1_Missense_Mutation_p.N820S	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	352										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						GAAAAAGTTATTGAATACAAA	0.423																																						ENST00000515869.1																			0											c.(2458-2460)aAt>aGt									82.0	78.0	80.0					10																	50724106		2203	4298	6501	SO:0001583	missense	0							g.chr10:50724106T>C	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.1055A>G	10.37:g.50724106T>C	ENSP00000363242:p.Asn352Ser					PGBD3_ENST00000603152.1_Missense_Mutation_p.N820S|PGBD3_ENST00000508005.2_Missense_Mutation_p.N352S|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.N820S|PGBD3_ENST00000374127.3_Missense_Mutation_p.N352S	p.N820S	NM_001277059.1	NP_001263988.1					6	2579	-								B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	c.2459A>G	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.355149	0.41700	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	0.534	0.534	0.17127	.	.	.	.	.	T	0.10551	0.0258	N	0.24115	0.695	0.09310	N	1	B;B	0.31640	0.333;0.096	B;B	0.29862	0.101;0.108	T	0.28170	-1.0052	8	0.72032	D	0.01	-29.8861	.	.	.	.	820;352	E7EV46;Q8N328	.;PGBD3_HUMAN	S	352;352;820;820	ENSP00000363242:N352S;ENSP00000426963:N352S;ENSP00000423550:N820S;ENSP00000387966:N820S	ENSP00000387966:N820S	N	-	2	0	PGBD3;RP11-123B3.6	50394112	0.855000	0.29742	0.021000	0.16686	0.990000	0.78478	2.602000	0.46257	0.451000	0.26802	0.260000	0.18958	AAT		0.423	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			19	67	0	0	0	1	0	19	67				
ADAM21P1	145241	broad.mit.edu	37	14	70714259	70714259	+	RNA	SNP	A	A	G	rs7144638	byFrequency	TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr14:70714259A>G	ENST00000530196.1	-	0	259					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CACCACTTCCAGGGAAGTGAA	0.527													G|||	786	0.156949	0.1505	0.085	5008	,	,		20010	0.2907		0.1262	False		,,,				2504	0.1104					ENST00000530196.1																			0																																																			0							g.chr14:70714259A>G			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714259A>G								NR_003951.1						0	259	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.527	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		4	96	0	0	0	1	0	4	96				
BTN3A3	10384	broad.mit.edu	37	6	26452501	26452501	+	Silent	SNP	C	C	T			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr6:26452501C>T	ENST00000244519.2	+	11	1860	c.1617C>T	c.(1615-1617)ggC>ggT	p.G539G	BTN3A3_ENST00000361232.3_Silent_p.G490G|BTN3A3_ENST00000339789.4_Silent_p.G497G	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	539					T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TGACCCCGGGCTTAGCTAATG	0.547																																						ENST00000244519.2																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1615-1617)ggC>ggT		butyrophilin, subfamily 3, member A3							48.0	46.0	47.0					6																	26452501		2203	4300	6503	SO:0001819	synonymous_variant	10384					integral to membrane		g.chr6:26452501C>T	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1617C>T	6.37:g.26452501C>T						BTN3A3_ENST00000339789.4_Silent_p.G497G|BTN3A3_ENST00000361232.3_Silent_p.G490G	p.G539G	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN			11	1860	+			539					B4DWI7|E9PCP5	Silent	SNP	ENST00000244519.2	37	c.1617C>T	CCDS4611.1																																																																																				0.547	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		4	38	0	0	0	1	0	4	38				
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	byFrequency	TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607													.|||	94	0.01877	0.0469	0.0173	5008	,	,		18765	0.0		0.0169	False		,,,				2504	0.0031					ENST00000564451.1																			2	Substitution - coding silent(2)	p.D118D(2)	kidney(2)																																																0							g.chr16:90161618C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161618C>T						TUBB8P7_ENST00000567960.1_RNA								0	971	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.607	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	36	0	0	0	1	0	5	36				
CCR9	10803	broad.mit.edu	37	3	45943240	45943240	+	Silent	SNP	G	G	C			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr3:45943240G>C	ENST00000357632.2	+	3	1140	c.960G>C	c.(958-960)gtG>gtC	p.V320V	CCR9_ENST00000422395.1_3'UTR|Y_RNA_ENST00000364765.1_RNA|LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000395963.2_Silent_p.V308V|CCR9_ENST00000355983.2_Silent_p.V308V	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	320					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		ATGTTTTTGTGGGTGAGAGAT	0.517																																						ENST00000357632.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20						c.(958-960)gtG>gtC		chemokine (C-C motif) receptor 9							110.0	102.0	105.0					3																	45943240		2203	4300	6503	SO:0001819	synonymous_variant	10803				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		g.chr3:45943240G>C	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.960G>C	3.37:g.45943240G>C						CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000395963.2_Silent_p.V308V|CCR9_ENST00000355983.2_Silent_p.V308V|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron	p.V320V	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	3	1140	+			320					Q4VBM3|Q549E0|Q9UQQ6	Silent	SNP	ENST00000357632.2	37	c.960G>C	CCDS2732.1																																																																																				0.517	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			20	44	0	0	0	1	0	20	44				
CHD5	26038	broad.mit.edu	37	1	6202222	6202222	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr1:6202222G>A	ENST00000262450.3	-	15	2501	c.2402C>T	c.(2401-2403)gCc>gTc	p.A801V	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACTCCGAATGGCGTTGTCCTC	0.577																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2401-2403)gCc>gTc		chromodomain helicase DNA binding protein 5							169.0	158.0	162.0					1																	6202222		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6202222G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2402C>T	1.37:g.6202222G>A	ENSP00000262450:p.Ala801Val					CHD5_ENST00000378021.1_5'UTR	p.A801V	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	15	2501	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	801			Helicase ATP-binding.		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.2402C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955651	0.92726	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.90900	-2.75	4.07	4.07	0.47477	DEAD-like helicase (2);SNF2-related (1);	0.073472	0.53938	D	0.000051	D	0.92770	0.7701	L	0.41710	1.295	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.93421	0.6777	10	0.54805	T	0.06	-22.6321	16.6218	0.84932	0.0:0.0:1.0:0.0	.	801	Q8TDI0	CHD5_HUMAN	V	801;317;209;209	ENSP00000262450:A801V	ENSP00000262450:A801V	A	-	2	0	CHD5	6124809	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.843000	0.86859	1.977000	0.57605	0.561000	0.74099	GCC		0.577	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		15	199	0	0	0	1	0	15	199				
KRT36	8689	broad.mit.edu	37	17	39643395	39643395	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr17:39643395C>T	ENST00000328119.6	-	6	1014	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	KRT36_ENST00000393986.2_Missense_Mutation_p.E289K	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	339	Coil 2.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCCTCGGTTTCGGCCAGGGTG	0.622																																						ENST00000393986.2																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17						c.(865-867)Gaa>Aaa		keratin 36							60.0	64.0	62.0					17																	39643395		2203	4300	6503	SO:0001583	missense	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39643395C>T	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.1015G>A	17.37:g.39643395C>T	ENSP00000329165:p.Glu339Lys					KRT36_ENST00000328119.6_Missense_Mutation_p.E339K	p.E289K			O76013	KRT36_HUMAN			7	1077	-		Breast(137;0.000286)	339			Coil 2.|Rod.		Q86XG4	Missense_Mutation	SNP	ENST00000328119.6	37	c.865G>A	CCDS11395.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174731	0.78452	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.93247	-3.19;-3.19	6.07	6.07	0.98685	Filament (1);	0.000000	0.51477	D	0.000099	D	0.98140	0.9386	H	0.97051	3.93	0.45567	D	0.998512	D	0.89917	1.0	D	0.80764	0.994	D	0.98483	1.0606	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	339	O76013	KRT36_HUMAN	K	289;339	ENSP00000377555:E289K;ENSP00000329165:E339K	ENSP00000329165:E339K	E	-	1	0	KRT36	36896921	1.000000	0.71417	0.965000	0.40720	0.143000	0.21401	7.677000	0.84024	2.884000	0.98904	0.655000	0.94253	GAA		0.622	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		9	85	0	0	0	1	0	9	85				
LHX4	89884	broad.mit.edu	37	1	180241031	180241031	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr1:180241031G>A	ENST00000263726.2	+	5	912	c.668G>A	c.(667-669)cGc>cAc	p.R223H	RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	223					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GGGCGGCACCGCTGGGGGCAG	0.582																																						ENST00000263726.2																			0				endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						c.(667-669)cGc>cAc		LIM homeobox 4							77.0	88.0	85.0					1																	180241031		2203	4300	6503	SO:0001583	missense	89884					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:180241031G>A	AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.668G>A	1.37:g.180241031G>A	ENSP00000263726:p.Arg223His					RP5-1180C10.2_ENST00000415414.1_RNA	p.R223H	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN			5	912	+			223					Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Missense_Mutation	SNP	ENST00000263726.2	37	c.668G>A	CCDS1338.1	.	.	.	.	.	.	.	.	.	.	G	36	5.700285	0.96802	.	.	ENSG00000121454	ENST00000263726	D	0.89875	-2.58	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.94324	0.8176	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94620	0.7812	10	0.87932	D	0	.	18.3679	0.90398	0.0:0.0:1.0:0.0	.	223	Q969G2	LHX4_HUMAN	H	223	ENSP00000263726:R223H	ENSP00000263726:R223H	R	+	2	0	LHX4	178507654	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	9.647000	0.98478	2.631000	0.89168	0.561000	0.74099	CGC		0.582	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084995.2	NM_033343		5	93	0	0	0	1	0	5	93				
SPERT	220082	broad.mit.edu	37	13	46287491	46287491	+	Missense_Mutation	SNP	G	G	A	rs534915627		TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr13:46287491G>A	ENST00000310521.1	+	3	411	c.331G>A	c.(331-333)Gac>Aac	p.D111N	SPERT_ENST00000378966.3_Missense_Mutation_p.D75N	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	111						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GTCCCAGGCCGACCTGGAGCT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		16710	0.0		0.0	False		,,,				2504	0.001					ENST00000378966.3																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15						c.(223-225)Gac>Aac		spermatid associated							62.0	66.0	65.0					13																	46287491		2203	4300	6503	SO:0001583	missense	220082					cytoplasmic membrane-bounded vesicle		g.chr13:46287491G>A	AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.331G>A	13.37:g.46287491G>A	ENSP00000309189:p.Asp111Asn					SPERT_ENST00000310521.1_Missense_Mutation_p.D111N	p.D75N			Q8NA61	SPERT_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)	2	639	+		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	111					A8K8I5|Q8NHV2	Missense_Mutation	SNP	ENST00000310521.1	37	c.223G>A	CCDS9399.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932798	0.73442	.	.	ENSG00000174015	ENST00000310521;ENST00000533564;ENST00000378966	T;T	0.51574	0.7;0.7	4.97	4.97	0.65823	.	0.133715	0.34338	N	0.004055	T	0.54334	0.1852	L	0.36672	1.1	0.34380	D	0.692962	D;D	0.76494	0.998;0.999	P;P	0.60236	0.871;0.871	T	0.66681	-0.5862	10	0.72032	D	0.01	.	13.6108	0.62076	0.0:0.0:1.0:0.0	.	75;111	Q8NA61-2;Q8NA61	.;SPERT_HUMAN	N	111;84;75	ENSP00000309189:D111N;ENSP00000368249:D75N	ENSP00000309189:D111N	D	+	1	0	SPERT	45185492	1.000000	0.71417	0.989000	0.46669	0.889000	0.51656	4.410000	0.59774	2.584000	0.87258	0.557000	0.71058	GAC		0.652	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044786.2	NM_152719		6	46	0	0	0	1	0	6	46				
AASS	10157	broad.mit.edu	37	7	121726065	121726065	+	Splice_Site	SNP	C	C	A			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr7:121726065C>A	ENST00000393376.1	-	18	2280		c.e18+1		AASS_ENST00000473553.1_Splice_Site|AASS_ENST00000417368.2_Splice_Site			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase						cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CAGCTGCTTACCTTATATCTC	0.368																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.e18+1		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)						89.0	82.0	84.0					7																	121726065		2203	4300	6503	SO:0001630	splice_region_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121726065C>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2184+1G>T	7.37:g.121726065C>A						AASS_ENST00000417368.2_Splice_Site|AASS_ENST00000473553.1_Splice_Site				Q9UDR5	AASS_HUMAN			18	2280	-								O95462	Splice_Site	SNP	ENST00000393376.1	37		CCDS5783.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294964	0.81025	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2585	0.98435	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AASS	121513301	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.425000	0.80255	2.894000	0.99253	0.655000	0.94253	.		0.368	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	Intron	17	69	1	0	4.96729e-08	1	5.42936e-08	17	69				
PHPT1	29085	broad.mit.edu	37	9	139748340	139748340	+	IGR	SNP	G	G	A	rs202129220	byFrequency	TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr9:139748340G>A	ENST00000247665.10	+	0	890				MAMDC4_ENST00000445819.1_Missense_Mutation_p.R189H|MAMDC4_ENST00000317446.2_Missense_Mutation_p.R189H|MAMDC4_ENST00000485732.1_3'UTR	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ACCACAGGCCGCATCCGGGGT	0.662													G|||	3	0.000599042	0.0	0.0	5008	,	,		11243	0.003		0.0	False		,,,				2504	0.0					ENST00000445819.1																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(565-567)cGc>cAc		MAM domain containing 4							34.0	37.0	36.0					9																	139748340		2195	4300	6495	SO:0001628	intergenic_variant	158056				protein transport	integral to membrane		g.chr9:139748340G>A	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950		9.37:g.139748340G>A						MAMDC4_ENST00000317446.2_Missense_Mutation_p.R189H|MAMDC4_ENST00000485732.1_3'UTR	p.R189H			Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	5	616	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	189			MAM 1.		B1AMX0|B1AMX1|Q9H0Y3	Missense_Mutation	SNP	ENST00000247665.10	37	c.566G>A	CCDS7009.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	.	17.82	3.483370	0.63962	.	.	ENSG00000177943	ENST00000317446;ENST00000445819	T;T	0.02177	4.41;4.41	4.78	4.78	0.61160	.	0.000000	0.53938	D	0.000041	T	0.14917	0.0360	M	0.86573	2.825	0.45648	D	0.998574	D	0.89917	1.0	D	0.91635	0.999	T	0.01998	-1.1232	10	0.38643	T	0.18	-39.7801	16.3726	0.83370	0.0:0.0:1.0:0.0	.	189	Q6UXC1-2	.	H	189	ENSP00000319388:R189H;ENSP00000411339:R189H	ENSP00000319388:R189H	R	+	2	0	MAMDC4	138868161	1.000000	0.71417	0.836000	0.33094	0.162000	0.22319	4.106000	0.57804	2.207000	0.71202	0.561000	0.74099	CGC		0.662	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		3	55	0	0	0	1	0	3	55				
TMEM164	84187	broad.mit.edu	37	X	109416587	109416587	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chrX:109416587G>C	ENST00000372073.1	+	7	1138	c.802G>C	c.(802-804)Ggg>Cgg	p.G268R	TMEM164_ENST00000372072.3_Missense_Mutation_p.G119R|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000372068.2_Missense_Mutation_p.G268R|TMEM164_ENST00000288381.4_Missense_Mutation_p.G229R			Q5U3C3	TM164_HUMAN	transmembrane protein 164	268						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						CATGACCCACGGGAAGCTGGT	0.532																																						ENST00000372073.1																			0				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						c.(802-804)Ggg>Cgg		transmembrane protein 164							96.0	84.0	88.0					X																	109416587		2203	4300	6503	SO:0001583	missense	84187					integral to membrane		g.chrX:109416587G>C	AK094127	CCDS14550.2, CCDS55475.1	Xq22.3	2008-02-05			ENSG00000157600	ENSG00000157600			26217	protein-coding gene	gene with protein product						12477932	Standard	NM_032227		Approved	FLJ22679, RP13-360B22.2	uc004eom.3	Q5U3C3	OTTHUMG00000022192	ENST00000372073.1:c.802G>C	X.37:g.109416587G>C	ENSP00000361143:p.Gly268Arg					TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000372072.3_Missense_Mutation_p.G119R|TMEM164_ENST00000288381.4_Missense_Mutation_p.G229R|TMEM164_ENST00000372068.2_Missense_Mutation_p.G268R	p.G268R			Q5U3C3	TM164_HUMAN			7	1138	+			268					B3KSQ8|F5H2P2	Missense_Mutation	SNP	ENST00000372073.1	37	c.802G>C	CCDS14550.2	.	.	.	.	.	.	.	.	.	.	g	27.9	4.876935	0.91664	.	.	ENSG00000157600	ENST00000372072;ENST00000372073;ENST00000372068;ENST00000288381;ENST00000501872	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.2	5.2	0.72013	.	0.046251	0.85682	D	0.000000	T	0.60560	0.2278	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.99	T	0.58335	-0.7654	10	0.37606	T	0.19	-4.9065	17.9986	0.89192	0.0:0.0:1.0:0.0	.	229;268	Q9H617;Q5U3C3	.;TM164_HUMAN	R	119;268;268;229;229	ENSP00000384075:G119R;ENSP00000361143:G268R;ENSP00000361138:G268R;ENSP00000288381:G229R	ENSP00000288381:G229R	G	+	1	0	TMEM164	109303243	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.472000	0.97709	2.185000	0.69588	0.464000	0.42555	GGG		0.532	TMEM164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057898.1	NM_032227		19	29	0	0	0	1	0	19	29				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	43	0	0	0	1	0	3	43				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844763T>C																												ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C														0	3013	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	14	0	0	0	1	0	3	14				
CDKL2	8999	broad.mit.edu	37	4	76522237	76522237	+	Missense_Mutation	SNP	C	C	T	rs142919399		TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr4:76522237C>T	ENST00000429927.2	-	9	1907	c.1204G>A	c.(1204-1206)Gtg>Atg	p.V402M	CDKL2_ENST00000307465.4_Missense_Mutation_p.V402M	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	402					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GTGTGGTCCACGCTGACATTG	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		17047	0.001		0.0	False		,,,				2504	0.0					ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(1204-1206)Gtg>Atg		cyclin-dependent kinase-like 2 (CDC2-related kinase)							274.0	241.0	252.0					4																	76522237		2203	4300	6503	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76522237C>T	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1204G>A	4.37:g.76522237C>T	ENSP00000412365:p.Val402Met					CDKL2_ENST00000307465.4_Missense_Mutation_p.V402M	p.V402M	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		9	1907	-			402					B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.1204G>A	CCDS3570.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.903	-0.452548	0.04540	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.71341	0.79;-0.56	4.44	-2.68	0.06041	.	.	.	.	.	T	0.48352	0.1495	N	0.14661	0.345	0.09310	N	1	B;B	0.18166	0.005;0.026	B;B	0.11329	0.006;0.006	T	0.29181	-1.0020	9	0.49607	T	0.09	2.0E-4	7.0273	0.24946	0.0:0.2633:0.1323:0.6044	.	402;402	B4DH08;Q92772	.;CDKL2_HUMAN	M	402	ENSP00000412365:V402M;ENSP00000306340:V402M	ENSP00000306340:V402M	V	-	1	0	CDKL2	76741261	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.103000	0.03329	-0.670000	0.05282	0.591000	0.81541	GTG		0.478	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		9	103	0	0	0	1	0	9	103				
ANKRD20A8P	729171	broad.mit.edu	37	2	95514963	95514963	+	RNA	SNP	G	G	A	rs114749649	byFrequency	TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr2:95514963G>A	ENST00000432432.2	-	0	694				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		GCCTATCAACGGCATGTGTAC	0.328													.|||	2	0.000399361	0.0008	0.0	5008	,	,		21192	0.0		0.0	False		,,,				2504	0.001					ENST00000432432.2																			0																																																			0							g.chr2:95514963G>A			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95514963G>A								NR_040113.1						0	694	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.328	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	211	0	0	0	1	0	4	211				
RANBP2	5903	broad.mit.edu	37	2	109365424	109365424	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr2:109365424A>T	ENST00000283195.6	+	9	1238	c.1112A>T	c.(1111-1113)gAg>gTg	p.E371V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	371					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTTTAAAAGAGATTGTTGAA	0.338																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1111-1113)gAg>gTg		RAN binding protein 2							225.0	236.0	232.0					2																	109365424		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109365424A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1112A>T	2.37:g.109365424A>T	ENSP00000283195:p.Glu371Val						p.E371V	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			9	1238	+			371					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1112A>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.640360	0.47153	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.26518	1.73	5.53	5.53	0.82687	.	.	.	.	.	T	0.49064	0.1535	L	0.56769	1.78	0.29218	N	0.874091	D	0.76494	0.999	D	0.83275	0.996	T	0.47433	-0.9118	9	0.62326	D	0.03	-7.437	15.9435	0.79776	1.0:0.0:0.0:0.0	.	371	P49792	RBP2_HUMAN	V	371	ENSP00000283195:E371V	ENSP00000283195:E371V	E	+	2	0	RANBP2	108731856	1.000000	0.71417	0.963000	0.40424	0.070000	0.16714	7.111000	0.77077	2.217000	0.71921	0.528000	0.53228	GAG		0.338	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		6	290	0	0	0	1	0	6	290				
RANBP2	5903	broad.mit.edu	37	2	109365426	109365426	+	Missense_Mutation	SNP	A	A	G	rs2693112		TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr2:109365426A>G	ENST00000283195.6	+	9	1240	c.1114A>G	c.(1114-1116)Att>Gtt	p.I372V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	372					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTAAAAGAGATTGTTGAAAC	0.343																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1114-1116)Att>Gtt		RAN binding protein 2							229.0	240.0	236.0					2																	109365426		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109365426A>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1114A>G	2.37:g.109365426A>G	ENSP00000283195:p.Ile372Val						p.I372V	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			9	1240	+			372					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1114A>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.259837	0.00262	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.28666	1.6	5.53	0.42	0.16444	.	.	.	.	.	T	0.08935	0.0221	N	0.00972	-1.085	0.22620	N	0.998929	B	0.02656	0.0	B	0.01281	0.0	T	0.33727	-0.9857	9	0.02654	T	1	-8.7147	11.8826	0.52583	0.3655:0.0:0.6345:0.0	rs2693112	372	P49792	RBP2_HUMAN	V	372	ENSP00000283195:I372V	ENSP00000283195:I372V	I	+	1	0	RANBP2	108731858	1.000000	0.71417	0.506000	0.27664	0.021000	0.10359	1.168000	0.31859	-0.130000	0.11599	-0.874000	0.02982	ATT		0.343	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		6	293	0	0	0	1	0	6	293				
CATSPERD	257062	broad.mit.edu	37	19	5770982	5770982	+	Silent	SNP	G	G	A			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr19:5770982G>A	ENST00000381624.3	+	19	1723	c.1662G>A	c.(1660-1662)ggG>ggA	p.G554G	CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Silent_p.G212G	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	554					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											GCTTCCAGGGGCAGCAGTCCT	0.587																																						ENST00000381624.3																			0											c.(1660-1662)ggG>ggA		catsper channel auxiliary subunit delta							73.0	73.0	73.0					19																	5770982		1930	4121	6051	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5770982G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1662G>A	19.37:g.5770982G>A						CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Silent_p.G212G	p.G554G	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			19	1723	+			554					Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.1662G>A	CCDS12149.2																																																																																				0.587	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		6	84	0	0	0	1	0	6	84				
FGF21	26291	broad.mit.edu	37	19	49261406	49261406	+	Missense_Mutation	SNP	G	G	A	rs375785872		TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr19:49261406G>A	ENST00000593756.1	+	4	1131	c.559G>A	c.(559-561)Gat>Aat	p.D187N	FUT1_ENST00000310160.3_5'Flank|FGF21_ENST00000222157.3_Missense_Mutation_p.D187N			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	187					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCAGCCCCCCGATGTGGGCTC	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		7353	0.0		0.001	False		,,,				2504	0.0					ENST00000593756.1																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(559-561)Gat>Aat		fibroblast growth factor 21		G	ASN/ASP	1,4363		0,1,2181	11.0	15.0	13.0		559	3.6	0.7	19		13	0,8572		0,0,4286	no	missense	FGF21	NM_019113.2	23	0,1,6467	AA,AG,GG		0.0,0.0229,0.0077	probably-damaging	187/210	49261406	1,12935	2182	4286	6468	SO:0001583	missense	26291				cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity	g.chr19:49261406G>A	AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.559G>A	19.37:g.49261406G>A	ENSP00000471477:p.Asp187Asn					FGF21_ENST00000222157.3_Missense_Mutation_p.D187N	p.D187N			Q9NSA1	FGF21_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	4	1131	+		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	187					Q8N683	Missense_Mutation	SNP	ENST00000593756.1	37	c.559G>A	CCDS12734.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836703	0.71373	2.29E-4	0.0	ENSG00000105550	ENST00000222157	D	0.83992	-1.79	4.64	3.6	0.41247	.	0.061340	0.64402	D	0.000006	T	0.69251	0.3090	N	0.24115	0.695	0.30373	N	0.782724	B	0.29232	0.238	B	0.20184	0.028	T	0.69829	-0.5039	10	0.72032	D	0.01	-22.4417	9.0989	0.36656	0.1008:0.0:0.8992:0.0	.	187	Q9NSA1	FGF21_HUMAN	N	187	ENSP00000222157:D187N	ENSP00000222157:D187N	D	+	1	0	FGF21	53953218	0.522000	0.26266	0.652000	0.29579	0.818000	0.46254	1.585000	0.36600	1.313000	0.45069	0.511000	0.50034	GAT		0.682	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466200.1			3	23	0	0	0	1	0	3	23				
USP34	9736	broad.mit.edu	37	2	61492578	61492580	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr2:61492578_61492580delTGC	ENST00000398571.2	-	43	5806_5808	c.5730_5732delGCA	c.(5728-5733)cagcaa>caa	p.1910_1911QQ>Q		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1910	USP.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CATATAAAGTTGCTGAATAGTAG	0.36																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(5728-5733)caa>ca		ubiquitin specific peptidase 34																																				SO:0001651	inframe_deletion	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61492578_61492580delTGC	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5730_5732delGCA	2.37:g.61492578_61492580delTGC	ENSP00000381577:p.Gln1911del						p.QQ1910del	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		43	5806_5808	-			1910					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	In_Frame_Del	DEL	ENST00000398571.2	37	c.5730_5732delGCA	CCDS42686.1																																																																																				0.360	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			21	84						21	84	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100369721	100369721	+	RNA	DEL	T	T	-			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr7:100369721delT	ENST00000348028.3	+	0	5590				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ctctaaattcttttttttttt	0.532																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100369721delT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369721delT						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5573	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.532	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	4						2	4	---	---	---	---
IQSEC3	440073	broad.mit.edu	37	12	248285	248285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr12:248285delG	ENST00000538872.1	+	4	1874	c.1756delG	c.(1756-1758)gggfs	p.G586fs	IQSEC3_ENST00000382841.2_Frame_Shift_Del_p.G283fs|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Frame_Shift_Del_p.G586fs|RP11-598F7.4_ENST00000508953.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	586					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		ggTGGGGAGAGGGGCCGAGGC	0.692																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1756-1758)ggfs		IQ motif and Sec7 domain 3							5.0	7.0	6.0					12																	248285		2099	4097	6196	SO:0001589	frameshift_variant	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:248285delG	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1756delG	12.37:g.248285delG	ENSP00000437554:p.Gly586fs					IQSEC3_ENST00000326261.4_Frame_Shift_Del_p.G586fs|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Frame_Shift_Del_p.G283fs	p.G586fs			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	4	1874	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		586					A6NIF2|A6NKV9|Q8TB43	Frame_Shift_Del	DEL	ENST00000538872.1	37	c.1756delG	CCDS53728.1																																																																																				0.692	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		2	4						2	4	---	---	---	---
GOLGA8A	23015	broad.mit.edu	37	15	34679126	34679127	+	Splice_Site	INS	-	-	T	rs528617413	byFrequency	TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr15:34679126_34679127insT	ENST00000432566.2	-	2	75		c.e2-1		GOLGA8A_ENST00000360553.3_Intron|GOLGA8A_ENST00000359187.4_Intron|GOLGA8A_ENST00000543376.1_5'UTR			A7E2F4	GOG8A_HUMAN	golgin A8 family, member A							Golgi apparatus (GO:0005794)|membrane (GO:0016020)							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		ATGTAGGGCCCTCCCCGTGGAT	0.594													?|T|TT|unsure	130	0.0259585	0.0946	0.0058	5008	,	,		23884	0.0		0.001	False		,,,				2504	0.0					ENST00000432566.2																			0											c.e2-1		golgin A8 family, member A																																				SO:0001630	splice_region_variant	23015					Golgi cisterna membrane		g.chr15:34679126_34679127insT	BX648160	CCDS10038.1	15q14	2011-10-25	2010-02-12		ENSG00000175265	ENSG00000175265			31972	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 8A"""			10660574, 10677249	Standard	NM_181077		Approved	GM88, GOLGIN-67	uc001zii.3	A7E2F4	OTTHUMG00000129447	ENST00000432566.2:c.76-1->A	15.37:g.34679127_34679127dupT						GOLGA8A_ENST00000360553.3_Intron|GOLGA8A_ENST00000359187.4_Intron|GOLGA8A_ENST00000543376.1_5'UTR				A7E2F4	GOG8A_HUMAN		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	75	-		all_lung(180;2.78e-08)						A7MCY9|B7ZMK5|O94937|Q52M46|Q68DK6|Q9NZG8|Q9NZW0|Q9NZW3	Splice_Site	INS	ENST00000432566.2	37																																																																																						0.594	GOLGA8A-202	KNOWN	basic	protein_coding	protein_coding		NM_181076	Intron	3	6						3	6	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	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		4	7						4	7	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10352207	10352218	+	In_Frame_Del	DEL	CGAGAGCTATGC	CGAGAGCTATGC	-	rs199631660		TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr17:10352207_10352218delCGAGAGCTATGC	ENST00000255381.2	-	31	4438_4449	c.4328_4339delGCATAGCTCTCG	c.(4327-4341)tgcatagctctcgat>tat	p.1443_1447CIALD>Y	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1443					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.D1447N(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCTTCTTATCGAGAGCTATGCAGGCAGCATT	0.429																																						ENST00000255381.2																			1	Substitution - Missense(1)	p.D1447N(1)	NS(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(4327-4341)tat>t		myosin, heavy chain 4, skeletal muscle																																				SO:0001651	inframe_deletion	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10352207_10352218delCGAGAGCTATGC		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4328_4339delGCATAGCTCTCG	17.37:g.10352207_10352218delCGAGAGCTATGC	ENSP00000255381:p.Cys1443_Asp1447delinsTyr					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.CIALD1443del	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			31	4438_4449	-			1443						In_Frame_Del	DEL	ENST00000255381.2	37	c.4328_4339delGCATAGCTCTCG	CCDS11154.1																																																																																				0.429	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		10	65						10	65	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			10	51						10	51	---	---	---	---
RPL36	25873	broad.mit.edu	37	19	5692212	5692213	+	IGR	INS	-	-	AA	rs112807920	byFrequency	TCGA-G9-7509-01A-11D-A41K-08	TCGA-G9-7509-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffdfc835-b6f2-4369-9f20-0c2b094020d0	38029fed-8935-4482-a4e6-d0be1258b2e0	g.chr19:5692212_5692213insAA	ENST00000577222.1	+	0	874				LONP1_ENST00000593119.1_Frame_Shift_Ins_p.R840fs|LONP1_ENST00000540670.2_Frame_Shift_Ins_p.R708fs|LONP1_ENST00000590729.1_Frame_Shift_Ins_p.R774fs|LONP1_ENST00000585374.1_Frame_Shift_Ins_p.R790fs|LONP1_ENST00000360614.3_Frame_Shift_Ins_p.R904fs			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						CACCCCTGCGCGCTTGGCCTGG	0.649																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2710-2712)cgcfs		lon peptidase 1, mitochondrial																																				SO:0001628	intergenic_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5692212_5692213insAA		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5692212_5692213insAA						LONP1_ENST00000590729.1_Frame_Shift_Ins_p.R774fs|LONP1_ENST00000540670.2_Frame_Shift_Ins_p.R708fs|LONP1_ENST00000585374.1_Frame_Shift_Ins_p.R790fs|LONP1_ENST00000593119.1_Frame_Shift_Ins_p.R840fs	p.R904fs	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			18	2867_2868	-			904					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Frame_Shift_Ins	INS	ENST00000577222.1	37	c.2710_2711insTT	CCDS12147.1																																																																																				0.649	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		8	120						8	120	---	---	---	---
