#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
VILL	50853	broad.mit.edu	37	3	38043319	38043319	+	Missense_Mutation	SNP	G	G	A	rs377050534		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr3:38043319G>A	ENST00000283713.6	+	13	1713	c.1447G>A	c.(1447-1449)Gcc>Acc	p.A483T	VILL_ENST00000383759.2_Missense_Mutation_p.A483T|VILL_ENST00000465644.1_Missense_Mutation_p.A201T			O15195	VILL_HUMAN	villin-like	483					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCACTTCCTCGCCATCTTCCA	0.607																																						ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(1447-1449)Gcc>Acc		villin-like		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	123.0	103.0	110.0		1447	3.2	0.8	3		110	0,8600		0,0,4300	no	missense	VILL	NM_015873.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	483/857	38043319	1,13005	2203	4300	6503	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38043319G>A		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1447G>A	3.37:g.38043319G>A	ENSP00000283713:p.Ala483Thr					VILL_ENST00000383759.2_Missense_Mutation_p.A483T|VILL_ENST00000465644.1_Missense_Mutation_p.A201T	p.A483T			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	13	1713	+			483					A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.1447G>A	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118257	0.77323	2.27E-4	0.0	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.17691	2.26;2.26;2.26	5.05	3.23	0.37069	.	0.097634	0.64402	D	0.000001	T	0.42810	0.1219	M	0.84683	2.71	0.40451	D	0.980141	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.979	T	0.43114	-0.9411	10	0.66056	D	0.02	-24.045	10.5136	0.44876	0.0744:0.1341:0.7915:0.0	.	469;483	O15195-2;O15195	.;VILL_HUMAN	T	483;483;469;201	ENSP00000283713:A483T;ENSP00000373266:A483T;ENSP00000422096:A201T	ENSP00000283713:A483T	A	+	1	0	VILL	38018323	1.000000	0.71417	0.806000	0.32338	0.645000	0.38454	5.639000	0.67868	0.633000	0.30452	-0.519000	0.04390	GCC		0.607	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		14	42	0	0	0	1	0	14	42				
KCTD16	57528	broad.mit.edu	37	5	143586416	143586416	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr5:143586416C>T	ENST00000507359.3	+	2	1230	c.139C>T	c.(139-141)Cct>Tct	p.P47S	KCTD16_ENST00000512467.1_Missense_Mutation_p.P47S	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	47	BTB.				protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)		p.P47S(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GATAAGCATCCCTCATTCCCT	0.473																																						ENST00000507359.2																			1	Substitution - Missense(1)	p.P47S(1)	skin(1)	large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21						c.(139-141)Cct>Tct		potassium channel tetramerization domain containing 16							77.0	72.0	74.0					5																	143586416		2203	4300	6503	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143586416C>T	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.139C>T	5.37:g.143586416C>T	ENSP00000426548:p.Pro47Ser					KCTD16_ENST00000512467.1_Missense_Mutation_p.P47S	p.P47S	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	1230	+		all_hematologic(541;0.118)	47			BTB.		Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.139C>T	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070114	0.76301	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.54071	0.59;0.59	5.55	5.55	0.83447	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.72003	0.3407	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73251	-0.4042	10	0.66056	D	0.02	.	19.5043	0.95108	0.0:1.0:0.0:0.0	.	47	Q68DU8	KCD16_HUMAN	S	47	ENSP00000424151:P47S;ENSP00000426548:P47S	ENSP00000426548:P47S	P	+	1	0	KCTD16	143566609	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.770000	0.85390	2.607000	0.88179	0.561000	0.74099	CCT		0.473	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		7	60	0	0	0	1	0	7	60				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		4	45	0	0	0	1	0	4	45				
C2CD3	26005	broad.mit.edu	37	11	73806412	73806412	+	Silent	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:73806412C>T	ENST00000334126.7	-	17	3247	c.3021G>A	c.(3019-3021)gaG>gaA	p.E1007E	C2CD3_ENST00000313663.7_Silent_p.E1007E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1007					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTATATGGATCTCAAAGCAGT	0.433																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(3019-3021)gaG>gaA		C2 calcium-dependent domain containing 3							172.0	160.0	164.0					11																	73806412		2200	4293	6493	SO:0001819	synonymous_variant	26005					centrosome		g.chr11:73806412C>T	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3021G>A	11.37:g.73806412C>T						C2CD3_ENST00000313663.7_Silent_p.E1007E	p.E1007E			Q4AC94	C2CD3_HUMAN			17	3247	-	Breast(11;4.16e-06)		1007					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	ENST00000334126.7	37	c.3021G>A																																																																																					0.433	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		10	110	0	0	0	1	0	10	110				
GSE1	23199	broad.mit.edu	37	16	85704656	85704656	+	Silent	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:85704656G>A	ENST00000253458.7	+	15	3647	c.3471G>A	c.(3469-3471)cgG>cgA	p.R1157R	GSE1_ENST00000405402.2_Silent_p.R1053R|GSE1_ENST00000393243.1_Silent_p.R1084R	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	1157																	TGGAGGCCCGGCACTACAGCC	0.542																																						ENST00000253458.7																			0											c.(3469-3471)cgG>cgA		Gse1 coiled-coil protein							68.0	71.0	70.0					16																	85704656		2198	4300	6498	SO:0001819	synonymous_variant	23199							g.chr16:85704656G>A	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.3471G>A	16.37:g.85704656G>A						GSE1_ENST00000393243.1_Silent_p.R1084R|GSE1_ENST00000405402.2_Silent_p.R1053R	p.R1157R	NM_014615.2	NP_055430.1					15	3647	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Silent	SNP	ENST00000253458.7	37	c.3471G>A	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530555	0.27387	.	.	ENSG00000131149	ENST00000412692;ENST00000438180	.	.	.	6.03	5.08	0.68730	.	.	.	.	.	T	0.71126	0.3303	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70615	-0.4823	4	.	.	.	-25.427	15.2911	0.73868	0.0668:0.0:0.9332:0.0	.	.	.	.	D	926;359	.	.	G	+	2	0	KIAA0182	84262157	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.571000	0.53841	1.569000	0.49696	0.555000	0.69702	GGC		0.542	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		9	60	0	0	0	1	0	9	60				
UBE2V1	7335	broad.mit.edu	37	20	48699408	48699408	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr20:48699408G>A	ENST00000371674.3	-	4	385	c.341C>T	c.(340-342)tCa>tTa	p.S114L	UBE2V1_ENST00000420027.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000396059.3_5'UTR|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S337L|UBE2V1_ENST00000340309.3_Missense_Mutation_p.S137L|TMEM189_ENST00000557021.1_Missense_Mutation_p.S337L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.S72L|UBE2V1_ENST00000371677.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000415862.2_Missense_Mutation_p.S70L	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1	114					cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			GATGCTATATGAATTCTGCCA	0.423																																						ENST00000557021.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8						c.(1009-1011)tCa>tTa		transmembrane protein 189							68.0	66.0	67.0					20																	48699408		2203	4298	6501	SO:0001583	missense	387521							g.chr20:48699408G>A	U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"""Ubiquitin-conjugating enzymes E2"""	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.341C>T	20.37:g.48699408G>A	ENSP00000360739:p.Ser114Leu					UBE2V1_ENST00000420027.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000340309.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000415862.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.S72L|UBE2V1_ENST00000371677.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000371674.3_Missense_Mutation_p.S114L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S337L	p.S337L	NM_199203.2	NP_954673.1			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)		8	1170	-								E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Missense_Mutation	SNP	ENST00000371674.3	37	c.1010C>T	CCDS33483.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956830	0.92726	.	.	ENSG00000124208;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000244687;ENSG00000240849	ENST00000341698;ENST00000371657;ENST00000371674;ENST00000340309;ENST00000415862;ENST00000371677;ENST00000420027;ENST00000354374;ENST00000557021	T;T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56	5.35	5.35	0.76521	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.44097	U	0.000487	T	0.30885	0.0779	L	0.61387	1.9	0.58432	D	0.999995	D;B;B;P	0.55800	0.973;0.348;0.348;0.628	P;P;P;P	0.54629	0.757;0.523;0.523;0.562	T	0.01762	-1.1279	10	0.72032	D	0.01	-0.3462	19.0759	0.93161	0.0:0.0:1.0:0.0	.	337;137;70;114	G3V2F7;Q13404-7;Q13404-6;Q13404	.;.;.;UB2V1_HUMAN	L	337;72;114;137;70;137;70;70;337	ENSP00000344166:S337L;ENSP00000360720:S72L;ENSP00000360739:S114L;ENSP00000340305:S137L;ENSP00000407770:S70L;ENSP00000360742:S137L;ENSP00000395264:S70L;ENSP00000450635:S337L	ENSP00000344166:S337L	S	-	2	0	TMEM189-UBE2V1;UBE2V1;TMEM189	48132815	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.476000	0.97823	2.506000	0.84524	0.650000	0.86243	TCA		0.423	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080530.1	NM_021988		7	81	0	0	0	1	0	7	81				
MET	4233	broad.mit.edu	37	7	116380017	116380017	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:116380017G>A	ENST00000318493.6	+	4	1593	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Missense_Mutation_p.R469Q|MET_ENST00000397752.3_Missense_Mutation_p.R469Q			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTGGTTTCTCGATCAGGACCA	0.378			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(1405-1407)cGa>cAa		met proto-oncogene							233.0	209.0	216.0					7																	116380017		1857	4089	5946	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116380017G>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1406G>A	7.37:g.116380017G>A	ENSP00000317272:p.Arg469Gln					MET_ENST00000436117.2_Missense_Mutation_p.R469Q|MET_ENST00000495962.1_3'UTR|MET_ENST00000318493.6_Missense_Mutation_p.R469Q	p.R469Q	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		4	1606	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	469			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.1406G>A	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010765	0.93346	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.11604	2.76;2.76;2.76	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	M	0.80508	2.5	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.998;1.0;0.997;1.0;1.0;1.0;1.0;1.0;1.0;0.999	T	0.11591	-1.0581	10	0.72032	D	0.01	.	20.2896	0.98541	0.0:0.0:1.0:0.0	.	469;469;469;469;469;469;469;469;469;469	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;P08581-2;P08581	.;.;.;.;.;.;.;.;.;MET_HUMAN	Q	469	ENSP00000380860:R469Q;ENSP00000317272:R469Q;ENSP00000410980:R469Q	ENSP00000317272:R469Q	R	+	2	0	MET	116167253	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.503000	0.81632	2.794000	0.96219	0.655000	0.94253	CGA		0.378	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			5	183	0	0	0	1	0	5	183				
ACTN1	87	broad.mit.edu	37	14	69369214	69369214	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr14:69369214C>T	ENST00000193403.6	-	8	1125	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	ACTN1_ENST00000376839.3_Missense_Mutation_p.A183T|ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000394419.4_Missense_Mutation_p.A248T|ACTN1_ENST00000438964.2_Missense_Mutation_p.A248T|ACTN1_ENST00000538545.2_Missense_Mutation_p.A248T	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	248					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCAGAGAAGGCGTGGTAGAAG	0.577																																						ENST00000193403.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27						c.(742-744)Gcc>Acc		actinin, alpha 1							167.0	142.0	150.0					14																	69369214		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69369214C>T	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.742G>A	14.37:g.69369214C>T	ENSP00000193403:p.Ala248Thr					ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000538545.2_Missense_Mutation_p.A248T|ACTN1_ENST00000438964.2_Missense_Mutation_p.A248T|ACTN1_ENST00000394419.4_Missense_Mutation_p.A248T|ACTN1_ENST00000376839.3_Missense_Mutation_p.A183T	p.A248T	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	8	1125	-			248					B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.742G>A	CCDS9792.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666003	0.88251	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000555616;ENST00000556433	D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	4.71	4.71	0.59529	Calponin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	M	0.69185	2.1	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.997;0.992	P;D;P;P	0.70487	0.883;0.969;0.863;0.896	D	0.95776	0.8813	10	0.39692	T	0.17	.	18.2101	0.89867	0.0:1.0:0.0:0.0	.	248;248;248;248	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	T	248;248;248;183;248;183;227	ENSP00000193403:A248T;ENSP00000377941:A248T;ENSP00000414272:A248T;ENSP00000366035:A183T;ENSP00000439828:A248T;ENSP00000450903:A183T;ENSP00000450764:A227T	ENSP00000193403:A248T	A	-	1	0	ACTN1	68438967	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	7.625000	0.83145	2.607000	0.88179	0.561000	0.74099	GCC		0.577	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		21	70	0	0	0	1	0	21	70				
BAGE2	85319	broad.mit.edu	37	21	11038990	11038990	+	RNA	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr21:11038990G>A	ENST00000470054.1	-	0	1213							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTATAGATTTGCCTCCTTGGT	0.398																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038990G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038990G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1213	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.398	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		13	603	0	0	0	1	0	13	603				
CDC6	990	broad.mit.edu	37	17	38451607	38451607	+	Splice_Site	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:38451607G>A	ENST00000209728.4	+	8	1554		c.e8-1			NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6						DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CTTGTCTGAAGGTATCTAGAG	0.408																																						ENST00000209728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						c.e8-1		cell division cycle 6							185.0	171.0	176.0					17																	38451607		2203	4300	6503	SO:0001630	splice_region_variant	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38451607G>A	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1084-1G>A	17.37:g.38451607G>A								NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN			8	1554	+								Q8TB30	Splice_Site	SNP	ENST00000209728.4	37		CCDS11365.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961362	0.53400	.	.	ENSG00000094804	ENST00000209728	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.185	0.93639	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDC6	35705133	1.000000	0.71417	0.827000	0.32855	0.567000	0.35839	7.896000	0.87350	2.835000	0.97688	0.591000	0.81541	.		0.408	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1		Intron	41	77	0	0	0	1	0	41	77				
GOSR2	9570	broad.mit.edu	37	17	45016041	45016041	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:45016041G>A	ENST00000393456.2	+	6	611	c.554G>A	c.(553-555)cGg>cAg	p.R185Q	RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R185Q|GOSR2_ENST00000439730.2_Missense_Mutation_p.R185Q|GOSR2_ENST00000225567.4_Missense_Mutation_p.R185Q|GOSR2_ENST00000576910.2_Missense_Mutation_p.R138Q	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	185					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			ATCGAGAAGCGGGCTTTCCAG	0.527																																						ENST00000576910.2																			0				kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7						c.(412-414)cGg>cAg		golgi SNAP receptor complex member 2							271.0	222.0	238.0					17																	45016041		2203	4300	6503	SO:0001583	missense	9570				cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity	g.chr17:45016041G>A	AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.554G>A	17.37:g.45016041G>A	ENSP00000377101:p.Arg185Gln					GOSR2_ENST00000393456.2_Missense_Mutation_p.R185Q|GOSR2_ENST00000225567.4_Missense_Mutation_p.R185Q|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R185Q|GOSR2_ENST00000439730.2_Missense_Mutation_p.R185Q	p.R138Q			O14653	GOSR2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.102)		5	489	+			185					D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Missense_Mutation	SNP	ENST00000393456.2	37	c.413G>A	CCDS42355.1	.	.	.	.	.	.	.	.	.	.	G	35	5.551811	0.96501	.	.	ENSG00000108433	ENST00000225567;ENST00000393456;ENST00000439730	D;D;D	0.87966	-2.32;-2.32;-2.32	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.95338	0.8487	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	D	0.96293	0.9215	10	0.87932	D	0	-21.6186	18.5078	0.90904	0.0:0.0:1.0:0.0	.	185;185;185	E7EQ34;O14653;O14653-2	.;GOSR2_HUMAN;.	Q	185	ENSP00000225567:R185Q;ENSP00000377101:R185Q;ENSP00000390577:R185Q	ENSP00000225567:R185Q	R	+	2	0	GOSR2	42371040	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.407000	0.97325	2.677000	0.91161	0.655000	0.94253	CGG		0.527	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440438.1			68	106	0	0	0	1	0	68	106				
MBD2	8932	broad.mit.edu	37	18	51715312	51715312	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr18:51715312T>C	ENST00000256429.3	-	3	1000	c.772A>G	c.(772-774)Aaa>Gaa	p.K258E		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	258					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		TTTGTGACTTTGGTTACCGGT	0.333																																						ENST00000256429.3																			0				breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(772-774)Aaa>Gaa		methyl-CpG binding domain protein 2	Hexobarbital(DB01355)						223.0	215.0	218.0					18																	51715312		2203	4300	6503	SO:0001583	missense	8932				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	g.chr18:51715312T>C	AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.772A>G	18.37:g.51715312T>C	ENSP00000256429:p.Lys258Glu						p.K258E	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN		Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	3	1000	-			258					O95242|Q9UIS8	Missense_Mutation	SNP	ENST00000256429.3	37	c.772A>G	CCDS11953.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.317828	0.40996	.	.	ENSG00000134046	ENST00000256429	D	0.98666	-5.06	5.88	5.88	0.94601	.	0.122450	0.52532	D	0.000064	D	0.98582	0.9526	M	0.75447	2.3	0.80722	D	1	P	0.51933	0.949	P	0.55455	0.776	D	0.98773	1.0729	10	0.30078	T	0.28	-9.5848	15.2725	0.73717	0.0:0.0:0.0:1.0	.	258	Q9UBB5	MBD2_HUMAN	E	258	ENSP00000256429:K258E	ENSP00000256429:K258E	K	-	1	0	MBD2	49969310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.864000	0.87037	2.252000	0.74401	0.460000	0.39030	AAA		0.333	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927		4	156	0	0	0	1	0	4	156				
TMEM45B	120224	broad.mit.edu	37	11	129722547	129722547	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:129722547C>A	ENST00000524567.1	+	2	451	c.170C>A	c.(169-171)tCc>tAc	p.S57Y	TMEM45B_ENST00000281441.3_Missense_Mutation_p.S57Y			Q96B21	TM45B_HUMAN	transmembrane protein 45B	57						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		ACTTTGTTTTCCGTCACTGGT	0.468																																						ENST00000281441.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(169-171)tCc>tAc		transmembrane protein 45B							113.0	108.0	109.0					11																	129722547		2201	4297	6498	SO:0001583	missense	120224					integral to membrane		g.chr11:129722547C>A	AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.170C>A	11.37:g.129722547C>A	ENSP00000436293:p.Ser57Tyr					TMEM45B_ENST00000524567.1_Missense_Mutation_p.S57Y	p.S57Y	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)	2	258	+	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	57					A8K2L8	Missense_Mutation	SNP	ENST00000524567.1	37	c.170C>A	CCDS8482.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178476	0.78564	.	.	ENSG00000151715	ENST00000281441;ENST00000524567	T;T	0.35048	1.33;1.33	5.64	4.71	0.59529	.	0.305787	0.34411	N	0.003986	T	0.44117	0.1278	L	0.56769	1.78	0.38567	D	0.949853	P	0.44478	0.836	P	0.46510	0.519	T	0.52852	-0.8520	10	0.72032	D	0.01	-8.3338	15.1802	0.72952	0.0:0.8583:0.1417:0.0	.	57	Q96B21	TM45B_HUMAN	Y	57	ENSP00000281441:S57Y;ENSP00000436293:S57Y	ENSP00000281441:S57Y	S	+	2	0	TMEM45B	129227757	1.000000	0.71417	0.005000	0.12908	0.021000	0.10359	6.974000	0.76122	1.341000	0.45600	0.655000	0.94253	TCC		0.468	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788		9	66	1	0	1.08611e-07	1	1.19259e-07	9	66				
ACSBG1	23205	broad.mit.edu	37	15	78487029	78487029	+	Missense_Mutation	SNP	C	C	T	rs148216585		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr15:78487029C>T	ENST00000258873.4	-	3	477	c.272G>A	c.(271-273)cGc>cAc	p.R91H	ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000558828.1_5'UTR|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	91					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TATGCGCAGGCGCACCCGCCC	0.632																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(271-273)cGc>cAc		acyl-CoA synthetase bubblegum family member 1		C	HIS/ARG,HIS/ARG	0,4392		0,0,2196	97.0	91.0	93.0		272,272	1.8	0.9	15	dbSNP_134	93	8,8578	6.4+/-24.3	0,8,4285	yes	missense,missense	ACSBG1	NM_001199377.1,NM_015162.4	29,29	0,8,6481	TT,TC,CC		0.0932,0.0,0.0616	benign,benign	91/721,91/725	78487029	8,12970	2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78487029C>T	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.272G>A	15.37:g.78487029C>T	ENSP00000258873:p.Arg91His					ACSBG1_ENST00000558828.1_5'UTR|ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron	p.R91H	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			3	477	-			91					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.272G>A	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.265784	0.23136	0.0	9.32E-4	ENSG00000103740	ENST00000258873	T	0.10763	2.84	5.12	1.77	0.24775	.	0.343935	0.27927	N	0.017297	T	0.10895	0.0266	L	0.59436	1.845	0.38677	D	0.952459	B;B	0.15930	0.006;0.015	B;B	0.11329	0.003;0.006	T	0.07443	-1.0772	10	0.51188	T	0.08	-21.9742	7.4959	0.27490	0.0:0.5819:0.0:0.4181	.	91;91	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	H	91	ENSP00000258873:R91H	ENSP00000258873:R91H	R	-	2	0	ACSBG1	76274084	0.822000	0.29219	0.888000	0.34837	0.068000	0.16541	0.128000	0.15810	0.557000	0.29117	0.655000	0.94253	CGC		0.632	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		14	109	0	0	0	1	0	14	109				
ENTPD7	57089	broad.mit.edu	37	10	101448501	101448501	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr10:101448501G>A	ENST00000370489.4	+	7	881	c.703G>A	c.(703-705)Gag>Aag	p.E235K		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	235						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		ATTCGACCACGAGGATGGTGA	0.363																																						ENST00000370489.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18						c.(703-705)Gag>Aag		ectonucleoside triphosphate diphosphohydrolase 7							303.0	297.0	299.0					10																	101448501		2203	4300	6503	SO:0001583	missense	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101448501G>A	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.703G>A	10.37:g.101448501G>A	ENSP00000359520:p.Glu235Lys						p.E235K	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	7	881	+		Colorectal(252;0.234)	235					B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	ENST00000370489.4	37	c.703G>A	CCDS7480.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047825	0.36085	.	.	ENSG00000198018	ENST00000370489	T	0.11169	2.8	4.84	4.84	0.62591	.	0.179264	0.48767	D	0.000177	T	0.08044	0.0201	L	0.38953	1.18	0.53005	D	0.999966	B	0.32829	0.386	B	0.26202	0.067	T	0.06534	-1.0821	10	0.05620	T	0.96	-11.9973	16.3098	0.82864	0.0:0.0:1.0:0.0	.	235	Q9NQZ7	ENTP7_HUMAN	K	235	ENSP00000359520:E235K	ENSP00000359520:E235K	E	+	1	0	ENTPD7	101438491	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.537000	0.60643	2.509000	0.84616	0.557000	0.71058	GAG		0.363	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		15	210	0	0	0	1	0	15	210				
DOCK2	1794	broad.mit.edu	37	5	169111328	169111328	+	Silent	SNP	C	C	T	rs374307327		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr5:169111328C>T	ENST00000256935.8	+	8	815	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	245					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCTCTCTACGACCCCAACA	0.493																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(733-735)taC>taT		dedicator of cytokinesis 2		C		1,4405	2.1+/-5.4	0,1,2202	179.0	160.0	167.0		735	1.7	1.0	5		167	0,8600		0,0,4300	no	coding-synonymous	DOCK2	NM_004946.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		245/1831	169111328	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169111328C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.735C>T	5.37:g.169111328C>T							p.Y245Y	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	815	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	245					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.735C>T	CCDS4371.1																																																																																				0.493	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		12	87	0	0	0	1	0	12	87				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			42	66	0	0	0	1	0	42	66				
NCOA3	8202	broad.mit.edu	37	20	46279863	46279863	+	Silent	SNP	G	G	A	rs578139784|rs112826888|rs573532891	byFrequency	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr20:46279863G>A	ENST00000371998.3	+	20	3980	c.3789G>A	c.(3787-3789)caG>caA	p.Q1263Q	NCOA3_ENST00000341724.6_Silent_p.Q1189Q|NCOA3_ENST00000372004.3_Silent_p.Q1259Q|NCOA3_ENST00000371997.3_Silent_p.Q1254Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1263	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcaac	0.567													G|||	14	0.00279553	0.0076	0.0014	5008	,	,		14322	0.003		0.0	False		,,,				2504	0.0					ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3775-3777)caG>caA		nuclear receptor coactivator 3							58.0	62.0	60.0					20																	46279863		2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279863G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3789G>A	20.37:g.46279863G>A						NCOA3_ENST00000371997.3_Silent_p.Q1254Q|NCOA3_ENST00000371998.3_Silent_p.Q1263Q|NCOA3_ENST00000341724.6_Silent_p.Q1189Q	p.Q1259Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3993	+			1263			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3777G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		4	65	0	0	0	1	0	4	65				
FAM78B	149297	broad.mit.edu	37	1	166039755	166039755	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:166039755G>A	ENST00000338353.3	-	3	1098	c.509C>T	c.(508-510)aCg>aTg	p.T170M	FAM78B_ENST00000354422.3_Missense_Mutation_p.T170M			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	170										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CAGCCAGGTCGTGAAACTTTG	0.507																																						ENST00000338353.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(508-510)aCg>aTg		family with sequence similarity 78, member B							223.0	200.0	208.0					1																	166039755		2203	4300	6503	SO:0001583	missense	149297							g.chr1:166039755G>A	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.509C>T	1.37:g.166039755G>A	ENSP00000339681:p.Thr170Met					FAM78B_ENST00000354422.3_Missense_Mutation_p.T170M	p.T170M			Q5VT40	FA78B_HUMAN			3	1098	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		170					B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	c.509C>T	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322292	0.60634	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.63843	1.955	0.50813	D	0.999892	D	0.54397	0.966	P	0.45681	0.49	T	0.56408	-0.7984	8	0.44086	T	0.13	-13.1285	17.6471	0.88151	0.0:0.0:1.0:0.0	.	170	Q5VT40	FA78B_HUMAN	M	170	.	ENSP00000339681:T170M	T	-	2	0	FAM78B	164306379	1.000000	0.71417	0.964000	0.40570	0.962000	0.63368	5.556000	0.67307	2.758000	0.94735	0.655000	0.94253	ACG		0.507	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		9	165	0	0	0	1	0	9	165				
CXorf22	170063	broad.mit.edu	37	X	35985740	35985740	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chrX:35985740A>G	ENST00000297866.5	+	10	1671	c.1605A>G	c.(1603-1605)atA>atG	p.I535M		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	535										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TAAAAGGTATATTGCCTTCGA	0.323																																						ENST00000297866.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(1603-1605)atA>atG		chromosome X open reading frame 22							69.0	61.0	64.0					X																	35985740		2202	4299	6501	SO:0001583	missense	170063							g.chrX:35985740A>G	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1605A>G	X.37:g.35985740A>G	ENSP00000297866:p.Ile535Met						p.I535M	NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN			10	1671	+			535					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1605A>G	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	A	2.250	-0.371884	0.05034	.	.	ENSG00000165164	ENST00000297866	T	0.20881	2.04	4.89	2.46	0.29980	.	0.387872	0.26507	N	0.023992	T	0.16085	0.0387	L	0.43152	1.355	0.09310	N	0.999998	B	0.28350	0.208	B	0.30572	0.117	T	0.20773	-1.0265	10	0.44086	T	0.13	-7.9075	4.8001	0.13292	0.677:0.0:0.1795:0.1435	.	535	Q6ZTR5	CX022_HUMAN	M	535	ENSP00000297866:I535M	ENSP00000297866:I535M	I	+	3	3	CXorf22	35895661	1.000000	0.71417	0.309000	0.25155	0.007000	0.05969	1.474000	0.35398	-0.086000	0.12550	-1.565000	0.00878	ATA		0.323	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		9	25	0	0	0	1	0	9	25				
COL1A1	1277	broad.mit.edu	37	17	48263208	48263208	+	Silent	SNP	G	G	C	rs1800219	byFrequency	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:48263208G>C	ENST00000225964.5	-	50	4297	c.4179C>G	c.(4177-4179)tcC>tcG	p.S1393S		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1393	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CGATCTCGTTGGAGCCCTGGA	0.632			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(4177-4179)tcC>tcG		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						86.0	70.0	76.0					17																	48263208		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48263208G>C	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.4179C>G	17.37:g.48263208G>C							p.S1393S	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			50	4297	-			1393			Fibrillar collagen NC1.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.4179C>G	CCDS11561.1																																																																																				0.632	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			27	43	0	0	0	1	0	27	43				
CCT6P1	643253	broad.mit.edu	37	7	65219568	65219568	+	RNA	SNP	G	G	C			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:65219568G>C	ENST00000442266.1	+	0	282				SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AGCCCAGGATGATATAACTGG	0.383																																						ENST00000442266.1																			0																																																			0							g.chr7:65219568G>C	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65219568G>C														0	282	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	84	0	0	0	1	0	3	84				
POTEA	340441	broad.mit.edu	37	8	43173619	43173619	+	RNA	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr8:43173619G>A	ENST00000522175.2	+	0	905							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAATGCAGAAGCATGGAAGTA	0.358																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							144.0	140.0	141.0					8																	43173619		2198	4297	6495			340441							g.chr8:43173619G>A	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43173619G>A										Q6S8J7	POTEA_HUMAN			0	905	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.358	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		9	107	0	0	0	1	0	9	107				
HYDIN	54768	broad.mit.edu	37	16	70975652	70975652	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:70975652G>A	ENST00000393567.2	-	43	6890	c.6740C>T	c.(6739-6741)gCc>gTc	p.A2247V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2247					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCAGAGGAGGGCGGCTGCAGC	0.537																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(6739-6741)gCc>gTc		HYDIN, axonemal central pair apparatus protein							67.0	69.0	69.0					16																	70975652		1957	4140	6097	SO:0001583	missense	54768							g.chr16:70975652G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6740C>T	16.37:g.70975652G>A	ENSP00000377197:p.Ala2247Val						p.A2247V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			43	6890	-		Ovarian(137;0.0654)	2247					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.6740C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947104	0.53186	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00932	5.53	5.32	5.32	0.75619	.	0.240568	0.20033	U	0.100671	T	0.01940	0.0061	M	0.73598	2.24	0.80722	D	1	B	0.24963	0.115	B	0.20767	0.031	T	0.50947	-0.8767	10	0.49607	T	0.09	.	13.3323	0.60495	0.0775:0.0:0.9225:0.0	.	2246	F8WD23	.	V	2247;2246	ENSP00000377197:A2247V	ENSP00000313052:A2246V	A	-	2	0	HYDIN	69533153	1.000000	0.71417	0.874000	0.34290	0.305000	0.27757	5.922000	0.70036	2.649000	0.89929	0.508000	0.49915	GCC		0.537	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			50	72	0	0	0	1	0	50	72				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	23	0	0	0	1	0	3	23				
SCN7A	6332	broad.mit.edu	37	2	167263066	167263066	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr2:167263066C>T	ENST00000409855.1	-	25	4199	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1358					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TTTTCCAAGACGCAGCATGTG	0.468																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4072-4074)cGt>cAt		sodium channel, voltage-gated, type VII, alpha subunit							119.0	113.0	115.0					2																	167263066		1981	4154	6135	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167263066C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4073G>A	2.37:g.167263066C>T	ENSP00000386796:p.Arg1358His						p.R1358H	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			25	4199	-			1358						Missense_Mutation	SNP	ENST00000409855.1	37	c.4073G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579051	0.46006	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.98455	-4.94	5.35	2.62	0.31277	Ion transport (1);	0.338199	0.28821	N	0.014040	D	0.96059	0.8716	L	0.60957	1.885	0.41471	D	0.988101	B	0.24043	0.096	B	0.19946	0.027	D	0.94235	0.7480	10	0.62326	D	0.03	.	8.9932	0.36037	0.0:0.7529:0.0:0.2471	.	1358	Q01118	SCN7A_HUMAN	H	1358	ENSP00000386796:R1358H	ENSP00000259060:R1358H	R	-	2	0	SCN7A	166971312	0.999000	0.42202	0.992000	0.48379	0.827000	0.46813	3.871000	0.56077	0.958000	0.37956	0.655000	0.94253	CGT		0.468	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			15	97	0	0	0	1	0	15	97				
USH2A	7399	broad.mit.edu	37	1	215990472	215990472	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:215990472A>G	ENST00000307340.3	-	48	9823	c.9437T>C	c.(9436-9438)cTa>cCa	p.L3146P	USH2A_ENST00000366943.2_Missense_Mutation_p.L3146P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3146	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTTTTCCATAGGAGATCATA	0.413										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9436-9438)cTa>cCa		Usher syndrome 2A (autosomal recessive, mild)							128.0	122.0	124.0					1																	215990472		2203	4299	6502	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215990472A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9437T>C	1.37:g.215990472A>G	ENSP00000305941:p.Leu3146Pro	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.L3146P	p.L3146P			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	48	9823	-			3146			Fibronectin type-III 18.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9437T>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.377089	0.61735	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55413	0.52;0.52	5.29	5.29	0.74685	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.35407	N	0.003236	T	0.67078	0.2855	M	0.73962	2.25	0.58432	D	0.999997	D	0.71674	0.998	P	0.61940	0.896	T	0.67284	-0.5709	10	0.36615	T	0.2	.	11.5207	0.50549	0.8504:0.1496:0.0:0.0	.	3146	O75445	USH2A_HUMAN	P	3146	ENSP00000305941:L3146P;ENSP00000355910:L3146P	ENSP00000305941:L3146P	L	-	2	0	USH2A	214057095	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.504000	0.53347	2.140000	0.66376	0.459000	0.35465	CTA		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		55	71	0	0	0	1	0	55	71				
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G	rs113380635		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RNU6-1268P_ENST00000391214.1_RNA|RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(922-924)gTt>gCt		POTE ankyrin domain family, member M							42.0	37.0	39.0					14																	20010235		365	763	1128	SO:0001583	missense	641455							g.chr14:20010235A>G		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.923T>C	14.37:g.20010235A>G	ENSP00000452296:p.Val308Ala					RP11-244H18.1_ENST00000547584.1_lincRNA	p.V308A	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			5	974	-			308						Missense_Mutation	SNP	ENST00000551509.1	37	c.923T>C	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	g	5.617	0.298596	0.10622	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.60040	0.22	0.906	0.906	0.19314	Ankyrin repeat-containing domain (4);	0.000000	0.32655	N	0.005811	T	0.10723	0.0262	N	0.00039	-2.51	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	8	.	.	.	.	3.4158	0.07375	0.2955:0.0:0.7045:0.0	.	308	A6NI47	POTEM_HUMAN	A	308;393;308	ENSP00000452296:V308A	.	V	-	2	0	POTEM	19080235	0.621000	0.27077	0.813000	0.32504	0.042000	0.13812	0.922000	0.28734	-0.020000	0.14032	-1.160000	0.01791	GTT		0.368	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		4	71	0	0	0	1	0	4	71				
COG7	91949	broad.mit.edu	37	16	23400383	23400383	+	Missense_Mutation	SNP	G	G	A	rs368614074		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:23400383G>A	ENST00000307149.5	-	17	2356	c.2171C>T	c.(2170-2172)gCc>gTc	p.A724V	COG7_ENST00000569635.1_5'Flank	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	724					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CAGGCCCAGGGCATCCATCAC	0.627																																						ENST00000307149.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27						c.(2170-2172)gCc>gTc		component of oligomeric golgi complex 7							61.0	50.0	54.0					16																	23400383		2197	4300	6497	SO:0001583	missense	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23400383G>A	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.2171C>T	16.37:g.23400383G>A	ENSP00000305442:p.Ala724Val						p.A724V	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	17	2356	-			724					Q6UWU7	Missense_Mutation	SNP	ENST00000307149.5	37	c.2171C>T	CCDS10610.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370143	0.95900	.	.	ENSG00000168434	ENST00000307149	T	0.53206	0.63	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.66147	0.2760	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.66689	-0.5860	10	0.48119	T	0.1	-26.6763	17.4999	0.87728	0.0:0.0:1.0:0.0	.	724	P83436	COG7_HUMAN	V	724	ENSP00000305442:A724V	ENSP00000305442:A724V	A	-	2	0	COG7	23307884	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.718000	0.98758	2.450000	0.82876	0.561000	0.74099	GCC		0.627	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			3	38	0	0	0	1	0	3	38				
OR9G1	390174	broad.mit.edu	37	11	56468109	56468109	+	Silent	SNP	G	G	C			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:56468109G>C	ENST00000312153.1	+	1	246	c.246G>C	c.(244-246)gtG>gtC	p.V82V		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AGATCCTAGTGACCTGCATCT	0.488																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(244-246)gtG>gtC		olfactory receptor, family 9, subfamily G, member 1							130.0	126.0	127.0					11																	56468109		2201	4294	6495	SO:0001819	synonymous_variant	390174							g.chr11:56468109G>C	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.246G>C	11.37:g.56468109G>C							p.V82V	NM_001005213.1	NP_001005213.1					1	246	+								Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.246G>C	CCDS31536.1																																																																																				0.488	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		5	122	0	0	0	1	0	5	122				
NF1	4763	broad.mit.edu	37	17	29556222	29556222	+	Nonsense_Mutation	SNP	T	T	A	rs587782814		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:29556222T>A	ENST00000358273.4	+	21	2972	c.2589T>A	c.(2587-2589)taT>taA	p.Y863*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Y863*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	863					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGCAACCTATAGCCCACCCA	0.502			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(2587-2589)taT>taA		neurofibromin 1							53.0	51.0	52.0					17																	29556222		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556222T>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2589T>A	17.37:g.29556222T>A	ENSP00000351015:p.Tyr863*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Nonsense_Mutation_p.Y863*	p.Y863*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	21	2972	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	863					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.2589T>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	44	10.632593	0.99441	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.44	1.86	0.25419	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8829	0.24183	0.0:0.6275:0.0:0.3725	.	.	.	.	X	863;863;529	.	ENSP00000348498:Y863X	Y	+	3	2	NF1	26580348	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.466000	0.45084	0.386000	0.24997	0.454000	0.30748	TAT		0.502	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		28	43	0	0	0	1	0	28	43				
ITGAX	3687	broad.mit.edu	37	16	31371635	31371635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:31371635C>T	ENST00000268296.4	+	8	833	c.712C>T	c.(712-714)Cga>Tga	p.R238*	ITGAX_ENST00000562522.1_Nonsense_Mutation_p.R238*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	238	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGATAGGCACCGATTGTTCCA	0.498																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(712-714)Cga>Tga		integrin, alpha X (complement component 3 receptor 4 subunit)							91.0	95.0	93.0					16																	31371635		2197	4300	6497	SO:0001587	stop_gained	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31371635C>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.712C>T	16.37:g.31371635C>T	ENSP00000268296:p.Arg238*					ITGAX_ENST00000562522.1_Nonsense_Mutation_p.R238*	p.R238*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			8	833	+			238			VWFA.		Q8IVA6	Nonsense_Mutation	SNP	ENST00000268296.4	37	c.712C>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733617	0.30684	.	.	ENSG00000140678	ENST00000268296	.	.	.	4.73	-9.46	0.00597	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	12.6791	0.56912	0.1817:0.1772:0.5851:0.0561	.	.	.	.	X	238	.	ENSP00000268296:R238X	R	+	1	2	ITGAX	31279136	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.013000	0.00046	-4.784000	0.00032	-2.786000	0.00116	CGA		0.498	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		55	95	0	0	0	1	0	55	95				
GYLTL1B	120071	broad.mit.edu	37	11	45949792	45949792	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:45949792C>T	ENST00000531526.1	+	13	1930	c.1819C>T	c.(1819-1821)Ccg>Tcg	p.P607S	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.P607S|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.P576S|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.P607S|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.P576S	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	607					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GGCTCAGGCCCCGTACCGTGT	0.657																																						ENST00000531526.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(1819-1821)Ccg>Tcg		glycosyltransferase-like 1B							107.0	107.0	107.0					11																	45949792		2203	4299	6502	SO:0001583	missense	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45949792C>T		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1819C>T	11.37:g.45949792C>T	ENSP00000432869:p.Pro607Ser					GYLTL1B_ENST00000536139.1_Missense_Mutation_p.P576S|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.P576S|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.P607S|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.P607S	p.P607S	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	13	1930	+			607					A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	c.1819C>T	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851804	0.91355	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000325468;ENST00000536139	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	M	0.75615	2.305	0.80722	D	1	D;D;B	0.63046	0.992;0.971;0.116	D;D;B	0.66351	0.943;0.916;0.224	T	0.43278	-0.9401	10	0.54805	T	0.06	-15.0533	19.5428	0.95281	0.0:1.0:0.0:0.0	.	576;576;607	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	S	576;607;607;607;576	ENSP00000431932:P576S;ENSP00000432869:P607S;ENSP00000385235:P607S;ENSP00000324570:P607S;ENSP00000445044:P576S	ENSP00000324570:P607S	P	+	1	0	GYLTL1B	45906368	1.000000	0.71417	0.993000	0.49108	0.684000	0.39900	7.482000	0.81143	2.610000	0.88304	0.561000	0.74099	CCG		0.657	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		73	116	0	0	0	1	0	73	116				
MCM3AP	8888	broad.mit.edu	37	21	47704304	47704304	+	Silent	SNP	G	G	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr21:47704304G>A	ENST00000397708.1	-	2	1151	c.897C>T	c.(895-897)cgC>cgT	p.R299R	MCM3AP_ENST00000291688.1_Silent_p.R299R|YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000397701.4_5'Flank|YBEY_ENST00000329319.3_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	299	FG-repeats.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCCTTGGGGAGCGATCCTGGT	0.577																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(895-897)cgC>cgT		minichromosome maintenance complex component 3 associated protein							94.0	99.0	98.0					21																	47704304		2203	4300	6503	SO:0001819	synonymous_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47704304G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.897C>T	21.37:g.47704304G>A						MCM3AP_ENST00000291688.1_Silent_p.R299R	p.R299R			O60318	MCM3A_HUMAN			2	1151	-	Breast(49;0.112)		299					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Silent	SNP	ENST00000397708.1	37	c.897C>T	CCDS13734.1																																																																																				0.577	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		8	130	0	0	0	1	0	8	130				
MYO3B	140469	broad.mit.edu	37	2	171073874	171073874	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr2:171073874C>T	ENST00000408978.4	+	6	715	c.572C>T	c.(571-573)tCt>tTt	p.S191F	MYO3B_ENST00000334231.6_Missense_Mutation_p.S200F|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.S191F	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AGAAACACATCTGTTGGCACC	0.448																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(598-600)tCt>tTt		myosin IIIB							251.0	242.0	245.0					2																	171073874		1920	4132	6052	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171073874C>T		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.572C>T	2.37:g.171073874C>T	ENSP00000386213:p.Ser191Phe					MYO3B_ENST00000409044.3_Missense_Mutation_p.S191F|MYO3B_ENST00000408978.4_Missense_Mutation_p.S191F|MYO3B_ENST00000602629.1_3'UTR	p.S200F			Q8WXR4	MYO3B_HUMAN			6	599	+			191			Protein kinase.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.599C>T	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736429	0.30774	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	6.06	6.06	0.98353	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.14013	0.0339	N	0.00572	-1.36	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.83275	0.996;0.992;0.991;0.995	T	0.64491	-0.6395	10	0.62326	D	0.03	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	191;191;191;191	Q8WXR4-5;B7ZM71;Q8WXR4-4;Q8WXR4	.;.;.;MYO3B_HUMAN	F	191;191;190;200;200	ENSP00000386497:S191F;ENSP00000386213:S191F;ENSP00000446237:S200F;ENSP00000335100:S200F	ENSP00000314213:S190F	S	+	2	0	MYO3B	170782120	1.000000	0.71417	0.891000	0.34965	0.665000	0.39181	7.388000	0.79795	2.882000	0.98803	0.655000	0.94253	TCT		0.448	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			9	294	0	0	0	1	0	9	294				
SERPINI2	5276	broad.mit.edu	37	3	167189539	167189539	+	Silent	SNP	T	T	C			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr3:167189539T>C	ENST00000476257.1	-	3	382	c.84A>G	c.(82-84)gaA>gaG	p.E28E	SERPINI2_ENST00000461846.1_Silent_p.E28E|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000471111.1_Silent_p.E28E|SERPINI2_ENST00000264677.4_Silent_p.E28E			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	28					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CCACTGCAAATTCGGTATTTT	0.373																																						ENST00000476257.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(82-84)gaA>gaG		serpin peptidase inhibitor, clade I (pancpin), member 2							137.0	143.0	141.0					3																	167189539		2203	4300	6503	SO:0001819	synonymous_variant	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167189539T>C	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.84A>G	3.37:g.167189539T>C						SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000471111.1_Silent_p.E28E|SERPINI2_ENST00000264677.4_Silent_p.E28E|SERPINI2_ENST00000461846.1_Silent_p.E28E	p.E28E			O75830	SPI2_HUMAN			3	382	-			28						Silent	SNP	ENST00000476257.1	37	c.84A>G	CCDS3200.1																																																																																				0.373	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		55	74	0	0	0	1	0	55	74				
PCDHGB4	8641	broad.mit.edu	37	5	140768348	140768348	+	Silent	SNP	T	T	C			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr5:140768348T>C	ENST00000519479.1	+	1	897	c.897T>C	c.(895-897)atT>atC	p.I299I	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	299	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGGGAAATTACTGTTTTAA	0.438																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(895-897)atT>atC									62.0	61.0	61.0					5																	140768348		1887	4115	6002	SO:0001819	synonymous_variant	0							g.chr5:140768348T>C	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.897T>C	5.37:g.140768348T>C						PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.I299I	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	897	+								O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.897T>C	CCDS54928.1																																																																																				0.438	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		3	45	0	0	0	1	0	3	45				
TCF3	6929	broad.mit.edu	37	19	1623982	1623982	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr19:1623982C>A	ENST00000262965.5	-	8	861	c.517G>T	c.(517-519)Gtc>Ttc	p.V173F	TCF3_ENST00000395423.3_Missense_Mutation_p.V122F|TCF3_ENST00000588136.1_Missense_Mutation_p.V173F|TCF3_ENST00000344749.5_Missense_Mutation_p.V173F|TCF3_ENST00000453954.2_Missense_Mutation_p.V89F	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTTCCGGACCTTCTTGGGC	0.637			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	ENST00000262965.5				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"""PBX1, HLF, TFPT"""		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(517-519)Gtc>Ttc		transcription factor 3							58.0	61.0	60.0					19																	1623982		2202	4300	6502	SO:0001583	missense	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1623982C>A	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.517G>T	19.37:g.1623982C>A	ENSP00000262965:p.Val173Phe					TCF3_ENST00000453954.2_Missense_Mutation_p.V89F|TCF3_ENST00000395423.3_Missense_Mutation_p.V122F|TCF3_ENST00000344749.5_Missense_Mutation_p.V173F|TCF3_ENST00000588136.1_Missense_Mutation_p.V173F	p.V173F	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	861	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	173					Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	c.517G>T	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301038	0.60195	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954;ENST00000395423	T;T;T	0.61392	0.11;0.11;0.11	4.12	4.12	0.48240	.	0.073528	0.56097	D	0.000038	T	0.74884	0.3775	M	0.83603	2.65	0.45239	D	0.998249	D;D;P	0.69078	0.997;0.979;0.954	D;P;P	0.66351	0.943;0.692;0.794	T	0.79279	-0.1869	10	0.62326	D	0.03	-24.8181	13.1168	0.59305	0.0:1.0:0.0:0.0	.	173;173;122	P15923-2;P15923;Q2TB39	.;TFE2_HUMAN;.	F	173;173;173;122	ENSP00000262965:V173F;ENSP00000344375:V173F;ENSP00000378813:V122F	ENSP00000262965:V173F	V	-	1	0	TCF3	1574982	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	3.504000	0.53347	1.853000	0.53794	0.313000	0.20887	GTC		0.637	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449367.1	NM_003200		14	27	1	0	8.00594e-06	1	8.62178e-06	14	27				
PEX1	5189	broad.mit.edu	37	7	92134081	92134081	+	Missense_Mutation	SNP	C	C	T	rs61750412		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:92134081C>T	ENST00000248633.4	-	12	2131	c.2036G>A	c.(2035-2037)aGt>aAt	p.S679N	PEX1_ENST00000438045.1_Missense_Mutation_p.S357N|PEX1_ENST00000428214.1_Intron|PEX1_ENST00000541751.1_Missense_Mutation_p.S96N	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	679			Missing (in PBD1A and PBD1B). {ECO:0000269|PubMed:9539740}.		ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CGCATCAGGACTGTGCTCATG	0.517																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2035-2037)aGt>aAt		peroxisomal biogenesis factor 1							137.0	117.0	124.0					7																	92134081		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92134081C>T	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2036G>A	7.37:g.92134081C>T	ENSP00000248633:p.Ser679Asn					PEX1_ENST00000438045.1_Missense_Mutation_p.S357N|PEX1_ENST00000428214.1_Intron|PEX1_ENST00000541751.1_Missense_Mutation_p.S96N	p.S679N	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		12	2131	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	679		Missing (in NALD).			A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.2036G>A	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	35	5.467247	0.96257	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000541751	D;D;D	0.83075	-1.68;-1.68;-1.68	5.35	5.35	0.76521	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.327131	0.41396	D	0.000899	D	0.87625	0.6224	M	0.68317	2.08	0.47621	D	0.999475	P;P	0.38863	0.65;0.459	P;B	0.48738	0.588;0.388	D	0.86884	0.2044	10	0.49607	T	0.09	-3.0098	19.2529	0.93932	0.0:1.0:0.0:0.0	.	357;679	E9PE75;O43933	.;PEX1_HUMAN	N	357;679;96	ENSP00000410438:S357N;ENSP00000248633:S679N;ENSP00000438637:S96N	ENSP00000248633:S679N	S	-	2	0	PEX1	91972017	0.998000	0.40836	0.374000	0.26016	0.455000	0.32408	5.611000	0.67674	2.791000	0.96007	0.561000	0.74099	AGT		0.517	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		5	78	0	0	0	1	0	5	78				
FUBP1	8880	broad.mit.edu	37	1	78428470	78428471	+	Frame_Shift_Del	DEL	TA	TA	-	rs369776228		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:78428470_78428471delTA	ENST00000370768.2	-	14	1409_1410	c.1328_1329delTA	c.(1327-1329)atafs	p.I443fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs|FUBP1_ENST00000370767.1_Frame_Shift_Del_p.I443fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	443	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTTTTCTTCTATGAGTTGCCG	0.337			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1327-1329)afs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78428470_78428471delTA	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1328_1329delTA	1.37:g.78428470_78428471delTA	ENSP00000359804:p.Ile443fs					FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I443fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs	p.I443fs			Q96AE4	FUBP1_HUMAN			14	1415_1416	-			443			KH 4.		Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.1328_1329delTA	CCDS683.1																																																																																				0.337	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		44	17						44	17	---	---	---	---
SETDB1	9869	broad.mit.edu	37	1	150935061	150935062	+	Splice_Site	DEL	AG	AG	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:150935061_150935062delAG	ENST00000271640.5	+	18	3348		c.e18-1		CERS2_ENST00000345896.4_5'Flank|RP11-316M1.12_ENST00000561111.1_RNA|SETDB1_ENST00000368969.4_Splice_Site|RP11-316M1.12_ENST00000560481.1_RNA	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCTCCCATTAGAGTTACTGAA	0.47																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.e18-1		SET domain, bifurcated 1																																				SO:0001630	splice_region_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150935061_150935062delAG	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3159-1AG>-	1.37:g.150935063_150935064delAG						SETDB1_ENST00000368969.4_Splice_Site		NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		18	3348	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)							A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Splice_Site	DEL	ENST00000271640.5	37		CCDS44217.1																																																																																				0.470	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2		Intron	13	127						13	127	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196227362	196227364	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:196227362_196227364delTTT	ENST00000294725.9	-	26	4086_4088	c.3171_3173delAAA	c.(3169-3174)aaaaat>aat	p.K1057del	KCNT2_ENST00000367431.4_In_Frame_Del_p.K991del|KCNT2_ENST00000367433.5_In_Frame_Del_p.K1033del|KCNT2_ENST00000609185.1_In_Frame_Del_p.K990del|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1057					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTCATTCTATTTTTCACAAGTT	0.389																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(3097-3102)aat>aa		potassium channel, subfamily T, member 2																																				SO:0001651	inframe_deletion	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196227362_196227364delTTT	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3171_3173delAAA	1.37:g.196227362_196227364delTTT	ENSP00000294725:p.Lys1057del					KCNT2_ENST00000294725.8_In_Frame_Del_p.KN1057del|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_In_Frame_Del_p.KN991del|KCNT2_ENST00000451324.2_3'UTR	p.KN1033del			Q6UVM3	KCNT2_HUMAN			25	3200_3202	-			1057					Q3SY59|Q5VTN1|Q6ZMT3	In_Frame_Del	DEL	ENST00000294725.9	37	c.3099_3101delAAA	CCDS1384.1																																																																																				0.389	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		11	146						11	146	---	---	---	---
HDAC11	79885	broad.mit.edu	37	3	13538268	13538268	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr3:13538268delC	ENST00000295757.3	+	4	468	c.285delC	c.(283-285)atcfs	p.I95fs	HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000522202.1_Intron|HDAC11_ENST00000437379.2_Frame_Shift_Del_p.I67fs|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000433119.1_Frame_Shift_Del_p.I67fs|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000402271.1_Intron	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	95	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						TCACAGAAATCCCCCCCGTTA	0.577											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000295757.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						c.(283-285)atfs		histone deacetylase 11																																				SO:0001589	frameshift_variant	79885				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chr3:13538268delC	AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.285delC	3.37:g.13538268delC	ENSP00000295757:p.Ile95fs		OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688	HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000437379.2_Frame_Shift_Del_p.I67fs|HDAC11_ENST00000433119.1_Frame_Shift_Del_p.I67fs|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000522202.1_Intron	p.I95fs	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN			4	468	+			95			Histone deacetylase.		B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Frame_Shift_Del	DEL	ENST00000295757.3	37	c.285delC	CCDS2615.1																																																																																				0.577	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827		19	43						19	43	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87964919	87964920	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr6:87964919_87964920delAA	ENST00000369577.3	+	8	1615_1616	c.1572_1573delAA	c.(1570-1575)ttaagafs	p.R525fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.R520fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	525						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAAACAGTTAAGAGAGAGGGG	0.406																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(1570-1575)ttgafs		zinc finger protein 292																																				SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87964919_87964920delAA	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1572_1573delAA	6.37:g.87964919_87964920delAA	ENSP00000358590:p.Arg525fs					ZNF292_ENST00000339907.4_Frame_Shift_Del_p.LR519fs	p.LR524fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	1615_1616	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	524					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.1572_1573delAA	CCDS47457.1																																																																																				0.406	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		15	27						15	27	---	---	---	---
NSUN5	55695	broad.mit.edu	37	7	72722449	72722451	+	In_Frame_Del	DEL	CTT	CTT	-	rs201201543	byFrequency	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:72722449_72722451delCTT	ENST00000252594.6	-	2	208_210	c.193_195delAAG	c.(193-195)aagdel	p.K65del	NSUN5_ENST00000310326.8_In_Frame_Del_p.K65del|NSUN5_ENST00000438747.2_In_Frame_Del_p.K65del|NSUN5_ENST00000428206.1_In_Frame_Del_p.K65del			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	65					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GCGGCCGCAGCTTCTTCTCCGCA	0.66																																						ENST00000428206.1																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(193-195)del		NOP2/Sun domain family, member 5			,,,	4,4240		1,2,2119					,,,	3.2	1.0			42	6,8168		1,4,4082	no	coding,coding,coding,coding	NSUN5	NM_148956.2,NM_018044.3,NM_001168348.1,NM_001168347.1	,,,	2,6,6201	A1A1,A1R,RR		0.0734,0.0943,0.0805	,,,	,,,		10,12408				SO:0001651	inframe_deletion	55695						methyltransferase activity	g.chr7:72722449_72722451delCTT	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.193_195delAAG	7.37:g.72722452_72722454delCTT	ENSP00000252594:p.Lys65del					NSUN5_ENST00000438747.2_In_Frame_Del_p.K65del|NSUN5_ENST00000310326.8_In_Frame_Del_p.K65del|NSUN5_ENST00000252594.6_In_Frame_Del_p.K65del	p.K65del	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN			2	206_208	-		Lung NSC(55;0.163)	65					B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	In_Frame_Del	DEL	ENST00000252594.6	37	c.193_195delAAG	CCDS5547.1																																																																																				0.660	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		9	109						9	109	---	---	---	---
ACTR3B	57180	broad.mit.edu	37	7	152497701	152497703	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:152497701_152497703delAGG	ENST00000256001.8	+	3	320_322	c.186_188delAGG	c.(184-189)atagga>ata	p.G63del	ACTR3B_ENST00000537264.1_Intron|ACTR3B_ENST00000377776.3_In_Frame_Del_p.G63del|ACTR3B_ENST00000397282.2_5'UTR	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	63						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		ACTTTTTCATAGGAGATGAAGCC	0.399																																						ENST00000256001.8																			0				breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13						c.(184-189)ata>at		ARP3 actin-related protein 3 homolog B (yeast)																																				SO:0001651	inframe_deletion	57180				regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding	g.chr7:152497701_152497703delAGG		CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.186_188delAGG	7.37:g.152497701_152497703delAGG	ENSP00000256001:p.Gly63del					ACTR3B_ENST00000377776.3_In_Frame_Del_p.IG62del|ACTR3B_ENST00000537264.1_Intron|ACTR3B_ENST00000397282.2_5'UTR	p.IG62del	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)	3	320_322	+		all_hematologic(28;0.0592)|Prostate(32;0.191)	62					A8MTG1|B4DFW4|Q7Z526|Q96BT2	In_Frame_Del	DEL	ENST00000256001.8	37	c.186_188delAGG	CCDS5934.1																																																																																				0.399	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322803.1	NM_020445		7	118						7	118	---	---	---	---
PRMT8	56341	broad.mit.edu	37	12	3649898	3649900	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr12:3649898_3649900delGAG	ENST00000382622.3	+	2	592_594	c.202_204delGAG	c.(202-204)gagdel	p.E69del	PRMT8_ENST00000452611.2_In_Frame_Del_p.E60del|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	69					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GCTGAACCCAGAGGAGATGACCT	0.581																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(202-204)del		protein arginine methyltransferase 8																																				SO:0001651	inframe_deletion	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649898_3649900delGAG	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.202_204delGAG	12.37:g.3649901_3649903delGAG	ENSP00000372067:p.Glu69del					PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_In_Frame_Del_p.E60del	p.E69del	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	592_594	+			69					B2RDP0|Q8TBJ8	In_Frame_Del	DEL	ENST00000382622.3	37	c.202_204delGAG	CCDS8521.2																																																																																				0.581	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		9	306						9	306	---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53875958	53875961	+	Frame_Shift_Del	DEL	TAGA	TAGA	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr12:53875958_53875961delTAGA	ENST00000267079.2	-	14	2470_2473	c.2245_2248delTCTA	c.(2245-2250)tctaccfs	p.ST749fs	MAP3K12_ENST00000547488.1_Frame_Shift_Del_p.ST782fs|MAP3K12_ENST00000547035.1_Frame_Shift_Del_p.ST782fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	749					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GAGCTGAAGGTAGATAGTGACTGG	0.52											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(2245-2250)ccfs		mitogen-activated protein kinase kinase kinase 12																																				SO:0001589	frameshift_variant	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53875958_53875961delTAGA	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.2245_2248delTCTA	12.37:g.53875958_53875961delTAGA	ENSP00000267079:p.Ser749fs		OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	996	MAP3K12_ENST00000547035.1_Frame_Shift_Del_p.ST782fs|MAP3K12_ENST00000547488.1_Frame_Shift_Del_p.ST782fs	p.ST749fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			14	2470_2473	-			749					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Frame_Shift_Del	DEL	ENST00000267079.2	37	c.2245_2248delTCTA	CCDS8860.1																																																																																				0.520	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		16	140						16	140	---	---	---	---
GOLGA8EP	390535	broad.mit.edu	37	15	23445447	23445449	+	RNA	DEL	AAG	AAG	-	rs62001513	byFrequency	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr15:23445447_23445449delAAG	ENST00000526079.1	+	0	2267_2269				RN7SL106P_ENST00000488468.2_RNA|AC100757.1_ENST00000458911.1_RNA	NR_027407.1|NR_033350.1				golgin A8 family, member E, pseudogene																		CTTGGCTGCCAAGAAGAAGGAGA	0.463																																						ENST00000526079.1																			0																	3,3619		0,3,1808						-0.3	0.0			67	1,7373		0,1,3686	no	intergenic				0,4,5494	A1A1,A1R,RR		0.0136,0.0828,0.0364				4,10992						0							g.chr15:23445447_23445449delAAG			15q11.2	2014-03-21	2012-10-05	2012-10-05	ENSG00000175676	ENSG00000175676			32377	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8E"", ""golgin A8 family, member E"""	GOLGA8E		12477932	Standard	NR_033350		Approved		uc001yvu.3		OTTHUMG00000167132		15.37:g.23445453_23445455delAAG								NR_027407.1|NR_033350.1						0	2267_2269	+									RNA	DEL	ENST00000526079.1	37																																																																																						0.463	GOLGA8EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393312.1	NR_033350.1		7	284						7	284	---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45455798	45455800	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr15:45455798_45455800delGGA	ENST00000321429.4	+	33	4724_4726	c.4317_4319delGGA	c.(4315-4320)gtggag>gtg	p.E1441del	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_In_Frame_Del_p.E1441del|DUOX1_ENST00000561166.1_In_Frame_Del_p.E1087del	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1441					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCCGAGAGGTGGAGGAGAATGAC	0.571											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(4315-4320)gtg>gt		dual oxidase 1																																				SO:0001651	inframe_deletion	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45455798_45455800delGGA	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4317_4319delGGA	15.37:g.45455801_45455803delGGA	ENSP00000317997:p.Glu1441del		OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_In_Frame_Del_p.VE1439del|DUOX1_ENST00000561166.1_In_Frame_Del_p.VE1085del	p.VE1439del	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	33	4724_4726	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1439					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	In_Frame_Del	DEL	ENST00000321429.4	37	c.4317_4319delGGA	CCDS32221.1																																																																																				0.571	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		13	109						13	109	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595|rs200021459|rs199821487	byFrequency	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	195	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777														3487	0.696286	0.4168	0.7824	5008	,	,		13432	0.8879		0.7654	False		,,,				2504	0.7444					ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(532-558)gag>g		mesoderm posterior 2 homolog (mouse)				995,777		385,225,276						0.1	0.0		dbSNP_129	3	3389,1453		1404,581,436	no	coding	MESP2	NM_001039958.1		1789,806,712	A1A1,A1R,RR		30.0083,43.8488,33.7164				4384,2230				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	15.37:g.90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENSP00000342392:p.Gly195_Gln202del					MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	p.EGQGQGQGQ178del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	533_556	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		178					Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	CCDS42078.1																																																																																				0.777	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		3	3						3	3	---	---	---	---
RBBP6	5930	broad.mit.edu	37	16	24583552	24583553	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:24583552_24583553delAA	ENST00000319715.4	+	18	5597_5598	c.5165_5166delAA	c.(5164-5166)gaafs	p.E1722fs	RBBP6_ENST00000381039.3_Frame_Shift_Del_p.E882fs|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.E1688fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1722					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		Agctcagcagaaagtcaggaca	0.485																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(5164-5166)gfs		retinoblastoma binding protein 6																																				SO:0001589	frameshift_variant	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24583552_24583553delAA		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.5165_5166delAA	16.37:g.24583552_24583553delAA	ENSP00000317872:p.Glu1722fs					RBBP6_ENST00000381039.3_Frame_Shift_Del_p.E882fs|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.E1688fs	p.E1722fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	18	5597_5598	+			1722					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Del	DEL	ENST00000319715.4	37	c.5165_5166delAA	CCDS10621.1																																																																																				0.485	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		10	26						10	26	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:29562657_29562660delTGTT	ENST00000358273.4	+	28	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.LF1246fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1246	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.F1247fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(4)|Deletion - Frameshift(1)	p.0?(8)|p.?(4)|p.F1247fs*16(1)	soft_tissue(7)|central_nervous_system(3)|autonomic_ganglia(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CD000973|CD972354	NF1	D		c.(3736-3741)ctfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29562657_29562660delTGTT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3737_3740delTGTT	17.37:g.29562657_29562660delTGTT	ENSP00000351015:p.Leu1246fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	28	4120_4123	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1246			Ras-GAP.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.3737_3740delTGTT	CCDS42292.1																																																																																				0.412	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		53	264						53	264	---	---	---	---
GPR179	440435	broad.mit.edu	37	17	36489867	36489869	+	In_Frame_Del	DEL	GAA	GAA	-	rs190745934	byFrequency	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:36489867_36489869delGAA	ENST00000342292.4	-	9	1857_1859	c.1837_1839delTTC	c.(1837-1839)ttcdel	p.F613del		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	613					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGTGGGTGTGGAAGAAGAAGAGG	0.621											OREG0024354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1837-1839)del		G protein-coupled receptor 179																																				SO:0001651	inframe_deletion	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36489867_36489869delGAA		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1837_1839delTTC	17.37:g.36489873_36489875delGAA	ENSP00000345060:p.Phe613del		OREG0024354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	863		p.F613del	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			9	1857_1859	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	613						In_Frame_Del	DEL	ENST00000342292.4	37	c.1837_1839delTTC	CCDS42308.1																																																																																				0.621	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			11	60						11	60	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)atcfs	p.I91fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					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)	p.I91fs*54(1)		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						CCAGATAAGATTTGTTCCCCT	0.323																																						ENST00000066544.3																			1	Deletion - Frameshift(1)	p.I91fs*54(1)	ovary(1)	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.(271-273)tcfs		cell division cycle 27							84.0	94.0	91.0					17																	45247389		2203	4299	6502	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.chr17:45247389delT	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.271delA	17.37:g.45247389delT	ENSP00000066544:p.Ile91fs					CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs	p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			4	364	-			91					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.271delA	CCDS11509.1																																																																																				0.323	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			11	173						11	173	---	---	---	---
MED16	10025	broad.mit.edu	37	19	891130	891131	+	Start_Codon_Del	DEL	AT	AT	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr19:891130_891131delAT	ENST00000589119.1	-	0	0_1				MED16_ENST00000395808.3_Start_Codon_Del|MED16_ENST00000312090.6_Start_Codon_Del|MED16_ENST00000606828.1_5'UTR|RNU6-9_ENST00000384776.1_RNA|MED16_ENST00000325464.1_Start_Codon_Del|MED16_ENST00000269814.4_Start_Codon_Del			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16						androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAATCACACATGAGGGCAGTC	0.619																																						ENST00000312090.6																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21								mediator complex subunit 16				2,4262		0,2,2130						-2.2	0.0			85	5,8249		0,5,4122	no	frameshift	MED16	NM_005481.2		0,7,6252	A1A1,A1R,RR		0.0606,0.0469,0.0559				7,12511				SO:0001582	initiator_codon_variant	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:891130_891131delAT	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0			19.37:g.891130_891131delAT						MED16_ENST00000269814.4_Start_Codon_Del|MED16_ENST00000395808.3_Start_Codon_Del|MED16_ENST00000606828.1_5'UTR|MED16_ENST00000589119.1_Start_Codon_Del|MED16_ENST00000325464.1_Start_Codon_Del				Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	151_152	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)						Q6PJT2|Q96AD4|Q96I35|Q9Y652	Translation_Start_Site	DEL	ENST00000589119.1	37		CCDS12047.1																																																																																				0.619	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		42	89						42	89	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47959885	47959888	+	Frame_Shift_Del	DEL	CTGA	CTGA	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr21:47959885_47959888delCTGA	ENST00000417564.2	+	17	2038_2041	c.2017_2020delCTGA	c.(2017-2022)ctgactfs	p.LT673fs	DIP2A_ENST00000435722.3_Frame_Shift_Del_p.LT673fs|DIP2A_ENST00000400274.1_Frame_Shift_Del_p.LT669fs|DIP2A_ENST00000427143.2_Frame_Shift_Del_p.LT609fs|DIP2A_ENST00000466639.1_Frame_Shift_Del_p.LT630fs|DIP2A_ENST00000457905.3_Frame_Shift_Del_p.LT673fs|DIP2A_ENST00000318711.7_Frame_Shift_Del_p.LT674fs			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	673					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TCCTGAGGCGCTGACTGTCGCCAT	0.534																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2020-2025)ctfs		DIP2 disco-interacting protein 2 homolog A (Drosophila)																																				SO:0001589	frameshift_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47959885_47959888delCTGA	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2017_2020delCTGA	21.37:g.47959885_47959888delCTGA	ENSP00000392066:p.Leu673fs					DIP2A_ENST00000427143.2_Frame_Shift_Del_p.LT609fs|DIP2A_ENST00000435722.3_Frame_Shift_Del_p.LT673fs|DIP2A_ENST00000400274.1_Frame_Shift_Del_p.LT669fs|DIP2A_ENST00000466639.1_Frame_Shift_Del_p.LT630fs|DIP2A_ENST00000417564.2_Frame_Shift_Del_p.LT673fs|DIP2A_ENST00000457905.3_Frame_Shift_Del_p.LT673fs	p.LT674fs	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	17	2203_2206	+	Breast(49;0.0933)		673					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Frame_Shift_Del	DEL	ENST00000417564.2	37	c.2020_2023delCTGA	CCDS46655.1																																																																																				0.534	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		7	142						7	142	---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99663560	99663562	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chrX:99663560_99663562delCAG	ENST00000373034.4	-	1	1709_1711	c.34_36delCTG	c.(34-36)ctgdel	p.L12del	PCDH19_ENST00000420881.2_In_Frame_Del_p.L12del|PCDH19_ENST00000255531.7_In_Frame_Del_p.L12del	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	12					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ACAGTATGGCCAGCAGCAGCAGC	0.665																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(34-36)del		protocadherin 19			,,	56,3144		0,40,16,1328,448					,,	5.7	1.0			6	159,5726		2,89,66,2096,1445	no	coding,coding,coding	PCDH19	NM_020766.2,NM_001184880.1,NM_001105243.1	,,	2,129,82,3424,1893	A1A1,A1R,A1,RR,R		2.7018,1.75,2.3665	,,	,,		215,8870				SO:0001651	inframe_deletion	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99663560_99663562delCAG	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.34_36delCTG	X.37:g.99663569_99663571delCAG	ENSP00000362125:p.Leu12del					PCDH19_ENST00000255531.7_In_Frame_Del_p.L12del|PCDH19_ENST00000420881.2_In_Frame_Del_p.L12del	p.L12del	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	1709_1711	-			12					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	In_Frame_Del	DEL	ENST00000373034.4	37	c.34_36delCTG	CCDS55462.1																																																																																				0.665	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		3	6						3	6	---	---	---	---
