#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
CORO7	79585	broad.mit.edu	37	16	4409369	4409369	+	Missense_Mutation	SNP	G	G	C	rs372039186		TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr16:4409369G>C	ENST00000251166.4	-	23	2413	c.2268C>G	c.(2266-2268)ttC>ttG	p.F756L	CORO7_ENST00000539968.1_Missense_Mutation_p.F536L|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.F756L|CORO7_ENST00000574025.1_Missense_Mutation_p.F671L|CORO7_ENST00000537233.2_Missense_Mutation_p.F738L	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	756					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GCTCGTACAGGAATACACGGG	0.667											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251166.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2266-2268)ttC>ttG		coronin 7							57.0	50.0	53.0					16																	4409369		2197	4299	6496	SO:0001583	missense	79585							g.chr16:4409369G>C	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2268C>G	16.37:g.4409369G>C	ENSP00000251166:p.Phe756Leu		OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	618	CORO7_ENST00000539968.1_Missense_Mutation_p.F536L|CORO7_ENST00000574025.1_Missense_Mutation_p.F671L|CORO7_ENST00000537233.2_Missense_Mutation_p.F738L|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.F756L	p.F756L	NM_024535.4	NP_078811.3					23	2413	-								B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.2268C>G	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086408	0.36855	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.12984	2.63;2.63	5.72	2.41	0.29592	WD40/YVTN repeat-like-containing domain (1);Domain of unknown function DUF1900 (1);	0.439679	0.27031	N	0.021273	T	0.24314	0.0589	L	0.45581	1.43	0.80722	D	1	B;D;D;B;B	0.76494	0.084;0.999;0.999;0.238;0.196	B;D;D;B;B	0.91635	0.134;0.992;0.999;0.085;0.21	T	0.01232	-1.1411	10	0.35671	T	0.21	-23.4507	7.3207	0.26526	0.4442:0.0:0.5558:0.0	.	671;738;536;756;737	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	L	756;671;536	ENSP00000251166:F756L;ENSP00000446221:F536L	ENSP00000251166:F756L	F	-	3	2	CORO7	4349370	1.000000	0.71417	0.998000	0.56505	0.063000	0.16089	2.624000	0.46444	0.780000	0.33566	0.655000	0.94253	TTC		0.667	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		8	28	0	0	0	0.003080	0	8	28				
FAM179A	165186	broad.mit.edu	37	2	29274814	29274814	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr2:29274814C>T	ENST00000379558.4	+	20	3266	c.2915C>T	c.(2914-2916)gCc>gTc	p.A972V	FAM179A_ENST00000403861.2_Missense_Mutation_p.A917V|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	972										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGGACTTTGCCGCCAGCCAG	0.657																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2914-2916)gCc>gTc		family with sequence similarity 179, member A							12.0	15.0	14.0					2																	29274814		1901	4113	6014	SO:0001583	missense	165186						binding	g.chr2:29274814C>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2915C>T	2.37:g.29274814C>T	ENSP00000368876:p.Ala972Val					FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.A917V	p.A972V	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			20	3266	+			972					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.2915C>T	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	C	34	5.334017	0.95758	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.24350	1.86;1.86	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000008	T	0.42017	0.1184	L	0.52011	1.625	0.49915	D	0.999835	D;D	0.61697	0.973;0.99	P;P	0.56612	0.802;0.751	T	0.05321	-1.0892	10	0.44086	T	0.13	.	19.3719	0.94492	0.0:1.0:0.0:0.0	.	917;972	F8W8E4;Q6ZUX3	.;F179A_HUMAN	V	972;917	ENSP00000368876:A972V;ENSP00000384699:A917V	ENSP00000368876:A972V	A	+	2	0	FAM179A	29128318	1.000000	0.71417	0.144000	0.22314	0.005000	0.04900	5.946000	0.70234	2.698000	0.92095	0.650000	0.86243	GCC		0.657	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		3	27	0	0	0	0.004672	0	3	27				
ARHGAP32	9743	broad.mit.edu	37	11	128840216	128840216	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr11:128840216A>C	ENST00000310343.9	-	22	4849	c.4850T>G	c.(4849-4851)cTg>cGg	p.L1617R	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.L1268R|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.L1268R|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1617	Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATATTGGTACAGAGGTCTTGG	0.522																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(4849-4851)cTg>cGg		Rho GTPase activating protein 32							88.0	82.0	84.0					11																	128840216		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128840216A>C	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4850T>G	11.37:g.128840216A>C	ENSP00000310561:p.Leu1617Arg					ARHGAP32_ENST00000392657.3_Missense_Mutation_p.L1268R|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.L1268R	p.L1617R	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	4849	-			1617			Interaction with GAB2.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.4850T>G	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731016	0.69074	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.10763	2.85;2.84;2.84	5.66	5.66	0.87406	.	0.288043	0.30093	N	0.010422	T	0.18045	0.0433	L	0.56769	1.78	0.36925	D	0.891589	P	0.47409	0.895	P	0.45428	0.48	T	0.04495	-1.0947	10	0.62326	D	0.03	.	15.8936	0.79318	1.0:0.0:0.0:0.0	.	1617	A7KAX9	RHG32_HUMAN	R	1617;1268;1268	ENSP00000310561:L1617R;ENSP00000376425:L1268R;ENSP00000432862:L1268R	ENSP00000310561:L1617R	L	-	2	0	ARHGAP32	128345426	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.791000	0.75120	2.156000	0.67533	0.533000	0.62120	CTG		0.522	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		44	44	0	0	0	0.008740	0	44	44				
PTPRD	5789	broad.mit.edu	37	9	8465600	8465600	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr9:8465600C>T	ENST00000381196.4	-	29	4123	c.3580G>A	c.(3580-3582)Gct>Act	p.A1194T	PTPRD_ENST00000397606.3_Missense_Mutation_p.A773T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A780T|PTPRD_ENST00000537002.1_Missense_Mutation_p.A780T|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1172T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A783T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1181T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A783T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A773T|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1194T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1194T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1194					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCAAAGTGAGCGGCAATATAT	0.428										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3580-3582)Gct>Act		protein tyrosine phosphatase, receptor type, D							155.0	145.0	148.0					9																	8465600		2203	4299	6502	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8465600C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3580G>A	9.37:g.8465600C>T	ENSP00000370593:p.Ala1194Thr	TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Missense_Mutation_p.A1194T|PTPRD_ENST00000537002.1_Missense_Mutation_p.A780T|PTPRD_ENST00000486161.1_Missense_Mutation_p.A783T|PTPRD_ENST00000355233.5_Missense_Mutation_p.A783T|PTPRD_ENST00000397611.3_Missense_Mutation_p.A780T|PTPRD_ENST00000397606.3_Missense_Mutation_p.A773T|PTPRD_ENST00000397617.3_Missense_Mutation_p.A773T|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1172T|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1194T|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1181T	p.A1194T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	29	4123	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1194					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3580G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	32	5.136216	0.94517	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.03;0.04;0.15;0.21;0.03;-0.07;-0.07;0.14;0.21	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.80481	0.4631	M	0.77486	2.375	0.80722	D	1	D;P;D;P;D;D;B;D;D	0.89917	0.994;0.797;0.999;0.892;1.0;0.999;0.076;1.0;0.999	B;B;D;B;D;D;B;D;D	0.81914	0.415;0.067;0.959;0.105;0.993;0.982;0.021;0.995;0.959	T	0.79764	-0.1666	9	.	.	.	.	19.7567	0.96296	0.0:1.0:0.0:0.0	.	773;778;783;783;780;780;1181;1194;1194	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	T	1194;1194;1181;1172;783;773;780;780;665;1194;783;773	ENSP00000370593:A1194T;ENSP00000348812:A1194T;ENSP00000353187:A1181T;ENSP00000351293:A1172T;ENSP00000347373:A783T;ENSP00000380741:A773T;ENSP00000380735:A780T;ENSP00000440515:A780T;ENSP00000438164:A1194T;ENSP00000417093:A783T;ENSP00000380731:A773T	.	A	-	1	0	PTPRD	8455600	1.000000	0.71417	0.985000	0.45067	0.983000	0.72400	7.445000	0.80570	2.746000	0.94184	0.650000	0.86243	GCT		0.428	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			54	98	0	0	0	0.003610	0	54	98				
TRBV7-8	28590	broad.mit.edu	37	7	142099660	142099660	+	RNA	SNP	G	G	A			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr7:142099660G>A	ENST00000390359.3	-	0	180									T cell receptor beta variable 7-8																		AGGGATACATGACCCGAAATT	0.517																																						ENST00000390359.3																			0																				69.0	68.0	68.0					7																	142099660		1866	4120	5986			0							g.chr7:142099660G>A	M11953		7q34	2012-02-07			ENSG00000229200			"""T cell receptors / TRB locus"""	12242	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV78, TCRBV6S2A1N1T, TCRBV7S8			OTTHUMG00000158875		7.37:g.142099660G>A														0	180	-									RNA	SNP	ENST00000390359.3	37																																																																																						0.517	TRBV7-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352483.1	NG_001333		8	112	0	0	0	0.003080	0	8	112				
FAT4	79633	broad.mit.edu	37	4	126336901	126336901	+	Silent	SNP	A	A	G			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr4:126336901A>G	ENST00000394329.3	+	5	6796	c.6783A>G	c.(6781-6783)ctA>ctG	p.L2261L	FAT4_ENST00000335110.5_Silent_p.L559L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2261	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATTTGAGCTATCTCCATATT	0.388																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6781-6783)ctA>ctG		FAT atypical cadherin 4							67.0	65.0	66.0					4																	126336901		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336901A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6783A>G	4.37:g.126336901A>G						FAT4_ENST00000335110.5_Silent_p.L559L	p.L2261L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6796	+			2261			Cadherin 22.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.6783A>G	CCDS3732.3																																																																																				0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		9	104	0	0	0	0.006214	0	9	104				
DNAH1	25981	broad.mit.edu	37	3	52388985	52388985	+	Missense_Mutation	SNP	A	A	G	rs371532292		TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr3:52388985A>G	ENST00000420323.2	+	21	3868	c.3607A>G	c.(3607-3609)Atg>Gtg	p.M1203V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1203	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCACATCGTCATGACCCAGAA	0.557																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(3607-3609)Atg>Gtg		dynein, axonemal, heavy chain 1		A	VAL/MET	0,4164		0,0,2082	123.0	126.0	125.0		3607	4.1	1.0	3		125	1,8419		0,1,4209	no	missense	DNAH1	NM_015512.4	21	0,1,6291	GG,GA,AA		0.0119,0.0,0.0079	benign	1203/4266	52388985	1,12583	2082	4210	6292	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52388985A>G	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3607A>G	3.37:g.52388985A>G	ENSP00000401514:p.Met1203Val						p.M1203V	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	21	3868	+			1203			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.3607A>G	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.707974	0.48412	0.0	1.19E-4	ENSG00000114841	ENST00000420323	T	0.59906	0.23	5.29	4.1	0.47936	.	0.000000	0.64402	D	0.000012	T	0.47544	0.1451	L	0.41415	1.275	0.41188	D	0.986286	B	0.24258	0.1	B	0.25405	0.06	T	0.34378	-0.9831	10	0.28530	T	0.3	.	12.0899	0.53719	0.7293:0.2707:0.0:0.0	.	1203	C9JXH6	.	V	1203	ENSP00000401514:M1203V	ENSP00000401514:M1203V	M	+	1	0	DNAH1	52364025	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.118000	0.64673	0.830000	0.34757	0.379000	0.24179	ATG		0.557	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		33	68	0	0	0	0.003755	0	33	68				
UGT2A1	10941	broad.mit.edu	37	4	70460903	70460903	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr4:70460903C>A	ENST00000503640.1	-	4	1116	c.1061G>T	c.(1060-1062)tGg>tTg	p.W354L	UGT2A1_ENST00000514019.1_Missense_Mutation_p.W520L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.W310L|UGT2A2_ENST00000457664.2_Missense_Mutation_p.W363L|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000286604.4_Missense_Mutation_p.W354L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	354					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTGGGGTATCCAATCAAAGAG	0.363																																						ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1060-1062)tGg>tTg		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus							133.0	127.0	129.0					4																	70460903		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70460903C>A	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1061G>T	4.37:g.70460903C>A	ENSP00000424478:p.Trp354Leu					UGT2A1_ENST00000514019.1_Missense_Mutation_p.W520L|UGT2A2_ENST00000457664.2_Missense_Mutation_p.W363L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.W354L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.W310L|UGT2A1_ENST00000502343.1_5'UTR	p.W354L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			4	1116	-			354					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.1061G>T	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367342	0.82463	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.92283	0.7552	M	0.93462	3.42	.	.	.	D;D;D;D;D	0.89917	0.997;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.942;0.986;0.999;0.995;0.999	D	0.94001	0.7275	9	0.87932	D	0	.	16.7108	0.85385	0.0:1.0:0.0:0.0	.	520;520;310;363;354	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	L	363;354;310;520;354	ENSP00000387888:W363L;ENSP00000424478:W354L;ENSP00000421432:W310L;ENSP00000425497:W520L;ENSP00000286604:W354L	ENSP00000286604:W354L	W	-	2	0	UGT2A1	70495492	1.000000	0.71417	0.991000	0.47740	0.725000	0.41563	7.466000	0.80914	2.609000	0.88269	0.549000	0.68633	TGG		0.363	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		17	127	1	0	3.32936e-07	0.006122	4.2806e-07	17	127				
ZNF626	199777	broad.mit.edu	37	19	20807787	20807787	+	Missense_Mutation	SNP	G	G	A	rs532078333	byFrequency	TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr19:20807787G>A	ENST00000601440.1	-	4	1042	c.896C>T	c.(895-897)aCc>aTc	p.T299I	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGTAGTAAGGGTTGAGGACCG	0.368													N|||	2	0.000399361	0.0	0.0	5008	,	,		22108	0.0		0.001	False		,,,				2504	0.001					ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(895-897)aCc>aTc		zinc finger protein 626							84.0	92.0	89.0					19																	20807787		2184	4293	6477	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807787G>A	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.896C>T	19.37:g.20807787G>A	ENSP00000469958:p.Thr299Ile					CTC-513N18.7_ENST00000595094.1_lincRNA	p.T299I	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1042	-			299					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.896C>T	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.017	-1.499465	0.01001	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.865	-1.73	0.08081	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22589	0.0545	N	0.20986	0.625	0.09310	N	1	B	0.11235	0.004	B	0.20384	0.029	T	0.21415	-1.0246	8	0.25106	T	0.35	.	2.7733	0.05340	0.0:0.244:0.2714:0.4846	.	299	Q68DY1	ZN626_HUMAN	I	299;223;299	.	ENSP00000445201:T299I	T	-	2	0	ZNF626	20599627	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-3.398000	0.00484	-0.969000	0.03573	-0.986000	0.02555	ACC		0.368	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		4	210	0	0	0	0.001168	0	4	210				
ZFYVE16	9765	broad.mit.edu	37	5	79768579	79768579	+	Splice_Site	SNP	G	G	T			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr5:79768579G>T	ENST00000338008.5	+	15	4204		c.e15-1		ZFYVE16_ENST00000505560.1_Splice_Site|ZFYVE16_ENST00000510158.1_Splice_Site	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16						BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CTCATTTCTAGATGGCTTAAT	0.348																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.e15-1		zinc finger, FYVE domain containing 16							86.0	91.0	90.0					5																	79768579		2203	4300	6503	SO:0001630	splice_region_variant	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79768579G>T	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.4025-1G>T	5.37:g.79768579G>T						ZFYVE16_ENST00000510158.1_Splice_Site|ZFYVE16_ENST00000505560.1_Splice_Site		NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	15	4204	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)						O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Splice_Site	SNP	ENST00000338008.5	37		CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489161	0.84962	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5343	0.95242	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZFYVE16	79804335	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.774000	0.91767	2.713000	0.92767	0.655000	0.94253	.		0.348	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733	Intron	36	82	1	0	2.51966e-14	0.003610	3.30705e-14	36	82				
ZNF626	199777	broad.mit.edu	37	19	20807796	20807796	+	Missense_Mutation	SNP	C	C	T	rs201387631	byFrequency	TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr19:20807796C>T	ENST00000601440.1	-	4	1033	c.887G>A	c.(886-888)cGg>cAg	p.R296Q	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	296					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						GGTTGAGGACCGGTTGAAGGC	0.388													N|||	2	0.000399361	0.0	0.0	5008	,	,		22011	0.0		0.001	False		,,,				2504	0.001					ENST00000601440.1																			0				breast(1)|endometrium(1)|lung(3)|skin(1)	6						c.(886-888)cGg>cAg		zinc finger protein 626							81.0	89.0	86.0					19																	20807796		2189	4292	6481	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807796C>T	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.887G>A	19.37:g.20807796C>T	ENSP00000469958:p.Arg296Gln					CTC-513N18.7_ENST00000595094.1_lincRNA	p.R296Q	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN			4	1033	-			296					Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.887G>A	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.021	-1.422862	0.01126	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.865	-0.414	0.12359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14787	0.0357	N	0.17564	0.495	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.32107	-0.9919	8	0.02654	T	1	.	3.3511	0.07153	0.0:0.3739:0.0:0.6261	.	296	Q68DY1	ZN626_HUMAN	Q	296;220;296	.	ENSP00000445201:R296Q	R	-	2	0	ZNF626	20599636	0.000000	0.05858	0.043000	0.18650	0.043000	0.13939	-4.983000	0.00163	0.277000	0.22141	0.282000	0.19409	CGG		0.388	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		4	206	0	0	0	0.001168	0	4	206				
BNC1	646	broad.mit.edu	37	15	83935700	83935700	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr15:83935700A>G	ENST00000345382.2	-	3	408	c.323T>C	c.(322-324)cTa>cCa	p.L108P	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.L101P	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	108					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TAGGATTTTTAGGCGAACGGG	0.502																																						ENST00000345382.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(322-324)cTa>cCa		basonuclin 1							111.0	104.0	106.0					15																	83935700		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83935700A>G	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.323T>C	15.37:g.83935700A>G	ENSP00000307041:p.Leu108Pro					BNC1_ENST00000569704.1_Missense_Mutation_p.L101P|RP11-382A20.4_ENST00000565495.1_RNA	p.L108P	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN			3	408	-			108					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.323T>C	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.546108	0.86022	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.04015	3.73	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.22044	0.0531	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.00203	-1.1924	10	0.87932	D	0	-17.0966	15.794	0.78394	1.0:0.0:0.0:0.0	.	101;108	F5GY04;Q01954	.;BNC1_HUMAN	P	108;101	ENSP00000307041:L108P	ENSP00000307041:L108P	L	-	2	0	BNC1	81726704	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.043000	0.93799	2.317000	0.78254	0.459000	0.35465	CTA		0.502	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		3	151	0	0	0	0.004672	0	3	151				
NDC80	10403	broad.mit.edu	37	18	2599022	2599022	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr18:2599022A>G	ENST00000261597.4	+	12	1408	c.1226A>G	c.(1225-1227)gAa>gGa	p.E409G		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	409	Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTACAGATTGAAACACAATTA	0.289																																						ENST00000261597.4																			0				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						c.(1225-1227)gAa>gGa		NDC80 kinetochore complex component							75.0	77.0	76.0					18																	2599022		2203	4299	6502	SO:0001583	missense	10403				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	g.chr18:2599022A>G	AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1226A>G	18.37:g.2599022A>G	ENSP00000261597:p.Glu409Gly						p.E409G	NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN			12	1408	+			409			Interaction with NEK2 and ZWINT.|Interaction with PSMC2 and SMC1A.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1.		Q6PJX2	Missense_Mutation	SNP	ENST00000261597.4	37	c.1226A>G	CCDS11827.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.936491	0.73442	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	T	0.53857	0.6	5.4	5.4	0.78164	.	0.042903	0.85682	D	0.000000	T	0.70290	0.3207	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.71227	-0.4655	10	0.46703	T	0.11	-14.9739	15.7272	0.77770	1.0:0.0:0.0:0.0	.	409	O14777	NDC80_HUMAN	G	409	ENSP00000261597:E409G	ENSP00000261597:E409G	E	+	2	0	NDC80	2589022	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.758000	0.85224	2.176000	0.68965	0.528000	0.53228	GAA		0.289	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254327.1	NM_006101		35	69	0	0	0	0.002836	0	35	69				
HLA-DPB1	3115	broad.mit.edu	37	6	33043841	33043841	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr6:33043841C>T	ENST00000418931.2	+	1	139	c.23C>T	c.(22-24)gCg>gTg	p.A8V	HLA-DPA1_ENST00000419277.1_Intron|HLA-DPA1_ENST00000428995.1_5'Flank|HLA-DPA1_ENST00000463066.1_5'Flank|HLA-DPB1_ENST00000535465.1_Missense_Mutation_p.A8V	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	8					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CAGGTTTCTGCGGCCCCCCGG	0.547																																						ENST00000418931.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						c.(22-24)gCg>gTg		major histocompatibility complex, class II, DP beta 1							45.0	45.0	45.0					6																	33043841		1510	2708	4218	SO:0001583	missense	3115				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex		g.chr6:33043841C>T		CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.23C>T	6.37:g.33043841C>T	ENSP00000408146:p.Ala8Val					HLA-DPA1_ENST00000419277.1_Intron|HLA-DPB1_ENST00000535465.1_Missense_Mutation_p.A8V	p.A8V	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN			1	139	+			8					A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Missense_Mutation	SNP	ENST00000418931.2	37	c.23C>T	CCDS4765.1	.	.	.	.	.	.	.	.	.	.	C	8.770	0.925776	0.18056	.	.	ENSG00000223865	ENST00000418931;ENST00000535465;ENST00000411942	T;T	0.44482	0.92;0.92	3.65	-7.3	0.01446	MHC classes I/II-like antigen recognition protein (1);	.	.	.	.	T	0.05181	0.0138	N	0.04508	-0.205	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.08055	0.003;0.002	T	0.36986	-0.9725	9	0.72032	D	0.01	.	3.2518	0.06818	0.1612:0.2742:0.432:0.1326	.	18;8	Q59GY1;P04440	.;DPB1_HUMAN	V	8	ENSP00000408146:A8V;ENSP00000439674:A8V	ENSP00000389210:A8V	A	+	2	0	HLA-DPB1	33151819	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.326000	0.02685	-1.294000	0.02360	-2.099000	0.00362	GCG		0.547	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		3	40	0	0	0	0.004672	0	3	40				
MAGEE1	57692	broad.mit.edu	37	X	75650162	75650162	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chrX:75650162G>A	ENST00000361470.2	+	1	2117	c.1839G>A	c.(1837-1839)caG>caA	p.Q613Q		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	613	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TGGGGGTGCAGCGGGAAAGGA	0.493																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(1837-1839)caG>caA		melanoma antigen family E, 1							51.0	46.0	48.0					X																	75650162		2203	4300	6503	SO:0001819	synonymous_variant	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75650162G>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1839G>A	X.37:g.75650162G>A							p.Q613Q	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	2117	+			613			MAGE 1.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	c.1839G>A	CCDS14433.1																																																																																				0.493	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		6	84	0	0	0	0.001168	0	6	84				
ITSN1	6453	broad.mit.edu	37	21	35255856	35255856	+	Silent	SNP	T	T	C			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr21:35255856T>C	ENST00000381318.3	+	36	4845	c.4557T>C	c.(4555-4557)ccT>ccC	p.P1519P	ITSN1_ENST00000381285.4_Silent_p.P1519P|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000437442.2_Silent_p.P1458P|ITSN1_ENST00000399367.3_Silent_p.P1514P|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1519	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTTTCCAGCCTATTTTCCTAA	0.498																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(4555-4557)ccT>ccC		intersectin 1 (SH3 domain protein)							134.0	142.0	139.0					21																	35255856		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35255856T>C	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4557T>C	21.37:g.35255856T>C						ITSN1_ENST00000399367.3_Silent_p.P1514P|ITSN1_ENST00000437442.2_Silent_p.P1458P|ITSN1_ENST00000381285.4_Silent_p.P1519P|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR	p.P1519P	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			36	4845	+			1519			PH.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.4557T>C	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.411007	0.25465	.	.	ENSG00000205726	ENST00000381284	.	.	.	5.75	-0.817	0.10836	.	.	.	.	.	T	0.43743	0.1261	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23226	-1.0194	4	.	.	.	.	4.0636	0.09849	0.1366:0.5421:0.1384:0.183	.	.	.	.	H	199	.	.	Y	+	1	0	ITSN1	34177726	0.006000	0.16342	0.991000	0.47740	0.860000	0.49131	-1.212000	0.02994	-0.375000	0.07955	0.528000	0.53228	TAT		0.498	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		3	243	0	0	0	0.004672	0	3	243				
LINC00264	645528	broad.mit.edu	37	10	26880338	26880338	+	lincRNA	SNP	G	G	C	rs3118888		TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr10:26880338G>C	ENST00000412114.1	+	0	573					NR_026793.1				long intergenic non-protein coding RNA 264																		GCTGAAACATGGAAGGTAAAA	0.483																																						ENST00000412114.1																			0																																																			0							g.chr10:26880338G>C			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880338G>C								NR_026793.1						0	573	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.483	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	31	0	0	0	0.000248	0	3	31				
TGFBI	7045	broad.mit.edu	37	5	135390519	135390519	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr5:135390519G>A	ENST00000442011.2	+	10	1540	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	460	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.G460D(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTCTGGGCGGCAAAAAACTG	0.423																																						ENST00000442011.2																			1	Substitution - Missense(1)	p.G460D(1)	lung(1)	breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1378-1380)gGc>gAc		transforming growth factor, beta-induced, 68kDa							179.0	180.0	179.0					5																	135390519		1837	4078	5915	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135390519G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1379G>A	5.37:g.135390519G>A	ENSP00000416330:p.Gly460Asp					TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1540	+			460			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1379G>A	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734757	0.89482	.	.	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	T;T	0.77098	-1.07;-1.07	5.83	5.83	0.93111	FAS1 domain (5);	0.045109	0.85682	D	0.000000	T	0.80757	0.4684	M	0.65975	2.015	0.80722	D	1	P;P	0.48230	0.704;0.907	P;P	0.48654	0.463;0.585	T	0.82489	-0.0432	10	0.66056	D	0.02	7.7385	13.748	0.62887	0.0787:0.0:0.9213:0.0	.	193;460	B9ZVW9;Q15582	.;BGH3_HUMAN	D	460;193;460	ENSP00000416330:G460D;ENSP00000306306:G460D	ENSP00000306306:G460D	G	+	2	0	TGFBI	135418418	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.936000	0.87665	2.769000	0.95229	0.655000	0.94253	GGC		0.423	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			6	356	0	0	0	0.001984	0	6	356				
OR4C6	219432	broad.mit.edu	37	11	55433283	55433283	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr11:55433283C>T	ENST00000314259.3	+	1	670	c.641C>T	c.(640-642)gCg>gTg	p.A214V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATCTTAATTGCGTCCTACACG	0.522																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(640-642)gCg>gTg		olfactory receptor, family 4, subfamily C, member 6							138.0	122.0	127.0					11																	55433283		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433283C>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.641C>T	11.37:g.55433283C>T	ENSP00000324769:p.Ala214Val						p.A214V	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	670	+			214					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.641C>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.309760	0.00237	.	.	ENSG00000181903	ENST00000314259	T	0.33654	1.4	4.07	0.359	0.16088	GPCR, rhodopsin-like superfamily (1);	0.882556	0.09405	N	0.806592	T	0.11196	0.0273	N	0.03881	-0.34	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.31696	-0.9934	10	0.05525	T	0.97	.	1.066	0.01611	0.1674:0.421:0.1644:0.2471	.	214	Q8NH72	OR4C6_HUMAN	V	214	ENSP00000324769:A214V	ENSP00000324769:A214V	A	+	2	0	OR4C6	55189859	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-2.257000	0.01180	0.087000	0.17167	0.543000	0.68304	GCG		0.522	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		23	163	0	0	0	0.002299	0	23	163				
NLRX1	79671	broad.mit.edu	37	11	119053828	119053828	+	Splice_Site	SNP	C	C	T			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr11:119053828C>T	ENST00000409109.1	+	10	3195	c.2608C>T	c.(2608-2610)Ctc>Ttc	p.L870F	PDZD3_ENST00000531114.1_5'Flank|PDZD3_ENST00000322712.4_5'Flank|NLRX1_ENST00000409991.1_Splice_Site_p.L870F|NLRX1_ENST00000409265.4_Intron|PDZD3_ENST00000525131.1_5'Flank|PDZD3_ENST00000355547.5_5'Flank|NLRX1_ENST00000292199.2_Splice_Site_p.L870F|NLRX1_ENST00000525863.1_Intron	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	870	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCCTGCCAGCCTCTACTTCAA	0.592																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.e10-1		NLR family member X1							33.0	33.0	33.0					11																	119053828		2200	4295	6495	SO:0001630	splice_region_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119053828C>T	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2607-1C>T	11.37:g.119053828C>T						NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000292199.2_Splice_Site_p.L870_splice|NLRX1_ENST00000409991.1_Splice_Site_p.L870_splice|NLRX1_ENST00000409265.4_Intron	p.L870_splice			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	10	3195	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	870			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Splice_Site	SNP	ENST00000409109.1	37	c.2606_splice	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768741	0.69878	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409109	T;T;T	0.72282	-0.64;-0.64;-0.64	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000010	D	0.84683	0.5526	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86572	0.1848	10	0.87932	D	0	.	12.5217	0.56062	0.0:0.8808:0.0:0.1192	.	870	Q86UT6	NLRX1_HUMAN	F	870	ENSP00000386851:L870F;ENSP00000292199:L870F;ENSP00000387334:L870F	ENSP00000292199:L870F	L	+	1	0	NLRX1	118559038	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.193000	0.42658	2.653000	0.90120	0.655000	0.94253	CTC		0.592	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722	Missense_Mutation	10	36	0	0	0	0.008291	0	10	36				
FAM196A	642938	broad.mit.edu	37	10	128974640	128974640	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr10:128974640C>T	ENST00000522781.1	-	4	575	c.20G>A	c.(19-21)gGc>gAc	p.G7D	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.G7D	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	7										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TATGCATTTGCCGGTGTCCTT	0.527																																						ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(19-21)gGc>gAc		family with sequence similarity 196, member A							74.0	77.0	76.0					10																	128974640		2192	4295	6487	SO:0001583	missense	642938							g.chr10:128974640C>T		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.20G>A	10.37:g.128974640C>T	ENSP00000429763:p.Gly7Asp					FAM196A_ENST00000424811.2_Missense_Mutation_p.G7D|DOCK1_ENST00000280333.6_Intron	p.G7D	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	575	-			7					B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	c.20G>A	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696408	0.48202	.	.	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.48201	0.82;0.82	5.19	5.19	0.71726	.	0.283237	0.39985	N	0.001220	T	0.32041	0.0816	N	0.17082	0.46	0.51012	D	0.9999	B;B	0.29085	0.232;0.232	B;B	0.25759	0.063;0.063	T	0.20840	-1.0263	10	0.66056	D	0.02	.	12.4582	0.55716	0.0:0.923:0.0:0.077	.	7;7	B7ZME7;Q6ZSG2	.;F196A_HUMAN	D	7	ENSP00000429763:G7D;ENSP00000428730:G7D	ENSP00000428730:G7D	G	-	2	0	FAM196A	128864630	1.000000	0.71417	0.152000	0.22495	0.942000	0.58702	4.673000	0.61604	2.591000	0.87537	0.313000	0.20887	GGC		0.527	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		4	238	0	0	0	0.000248	0	4	238				
GOSR1	9527	broad.mit.edu	37	17	28811716	28811716	+	Silent	SNP	C	C	T			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr17:28811716C>T	ENST00000225724.5	+	4	348	c.276C>T	c.(274-276)acC>acT	p.T92T	GOSR1_ENST00000581721.1_Silent_p.T92T|GOSR1_ENST00000451249.2_Silent_p.T90T|GOSR1_ENST00000467337.2_Silent_p.T27T	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	92					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						CAGAATATACCAACAGTGCAG	0.363																																						ENST00000225724.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						c.(274-276)acC>acT		golgi SNAP receptor complex member 1							77.0	73.0	75.0					17																	28811716		2203	4300	6503	SO:0001819	synonymous_variant	9527				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity	g.chr17:28811716C>T	AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"""golgi integral membrane protein 2"""	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.276C>T	17.37:g.28811716C>T						GOSR1_ENST00000467337.2_Silent_p.T27T|GOSR1_ENST00000451249.2_Silent_p.T90T|GOSR1_ENST00000581721.1_Silent_p.T92T	p.T92T	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN			4	348	+			92					J3KST5|O75392	Silent	SNP	ENST00000225724.5	37	c.276C>T	CCDS11258.1																																																																																				0.363	GOSR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256208.2			12	70	0	0	0	0.001368	0	12	70				
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	byFrequency	TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTTGTCAACATTCGTGACAGA	0.413																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698264T>C	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698264T>C								NR_003264.2						0	1608	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.413	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	97	0	0	0	0.000602	0	3	97				
SERHL2	253190	broad.mit.edu	37	22	42971987	42971987	+	IGR	SNP	T	T	C	rs137064	byFrequency	TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr22:42971987T>C	ENST00000327678.5	+	0	1374				RRP7B_ENST00000357802.2_RNA	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2								hydrolase activity (GO:0016787)	p.Q59R(1)		breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CAGCTCTTTTTGGCTGCGCTT	0.672													.|||	2207	0.440695	0.6831	0.2277	5008	,	,		16271	0.6845		0.171	False		,,,				2504	0.2904					ENST00000357802.2																			1	Substitution - Missense(1)	p.Q59R(1)	prostate(1)																																														SO:0001628	intergenic_variant	0							g.chr22:42971987T>C		CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892		22.37:g.42971987T>C														0	733	-								Q5JZ95|Q9UH21	RNA	SNP	ENST00000327678.5	37		CCDS14037.1																																																																																				0.672	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320454.1	NM_014509		3	35	0	0	0	0.004672	0	3	35				
PPARA	5465	broad.mit.edu	37	22	46627935	46627935	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr22:46627935A>G	ENST00000396000.2	+	7	1223	c.958A>G	c.(958-960)Atg>Gtg	p.M320V	PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000407236.1_Missense_Mutation_p.M320V|PPARA_ENST00000262735.5_Missense_Mutation_p.M320V|PPARA_ENST00000402126.1_Missense_Mutation_p.M320V			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	320	Ligand-binding.|Required for heterodimerization with RXRA.				behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	CATATTCGCCATGCTGTCTTC	0.463																																						ENST00000396000.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(958-960)Atg>Gtg		peroxisome proliferator-activated receptor alpha	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)						153.0	138.0	143.0					22																	46627935		2203	4300	6503	SO:0001583	missense	5465				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	g.chr22:46627935A>G	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.958A>G	22.37:g.46627935A>G	ENSP00000379322:p.Met320Val					PPARA_ENST00000402126.1_Missense_Mutation_p.M320V|PPARA_ENST00000407236.1_Missense_Mutation_p.M320V|PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Missense_Mutation_p.M320V	p.M320V			Q07869	PPARA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	7	1223	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	320			Ligand-binding.|Required for heterodimerization with RXRA.		B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	37	c.958A>G	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.822861	0.32237	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000535613;ENST00000407236;ENST00000402126	D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09	5.48	5.48	0.80851	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.073333	0.85682	D	0.000000	D	0.94719	0.8296	M	0.67953	2.075	0.80722	D	1	B;B	0.31611	0.021;0.331	B;B	0.28011	0.016;0.085	D	0.93563	0.6897	10	0.37606	T	0.19	.	14.7735	0.69699	1.0:0.0:0.0:0.0	.	101;320	F5H1U1;Q07869	.;PPARA_HUMAN	V	320;320;101;320;320	ENSP00000379322:M320V;ENSP00000262735:M320V;ENSP00000385523:M320V;ENSP00000385246:M320V	ENSP00000262735:M320V	M	+	1	0	PPARA	45006599	0.998000	0.40836	0.910000	0.35882	0.666000	0.39218	3.914000	0.56401	2.084000	0.62774	0.533000	0.62120	ATG		0.463	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928		14	231	0	0	0	0.004007	0	14	231				
ZNF804B	219578	broad.mit.edu	37	7	88962796	88962796	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr7:88962796T>C	ENST00000333190.4	+	4	1109	c.500T>C	c.(499-501)cTc>cCc	p.L167P		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	167							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGTGCTCTTCTCCTTAAAGGA	0.443										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(499-501)cTc>cCc		zinc finger protein 804B							86.0	84.0	85.0					7																	88962796		2203	4299	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88962796T>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.500T>C	7.37:g.88962796T>C	ENSP00000329638:p.Leu167Pro	HNSCC(36;0.09)					p.L167P	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1109	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		167					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.500T>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	T	9.028	0.986502	0.18889	.	.	ENSG00000182348	ENST00000333190	T	0.05855	3.38	4.85	4.85	0.62838	.	0.812485	0.10720	N	0.641872	T	0.11239	0.0274	L	0.34521	1.04	0.44359	D	0.99725	D	0.64830	0.994	P	0.60173	0.87	T	0.22836	-1.0205	10	0.27785	T	0.31	-9.6109	5.9201	0.19078	0.0:0.0903:0.17:0.7397	.	167	A4D1E1	Z804B_HUMAN	P	167	ENSP00000329638:L167P	ENSP00000329638:L167P	L	+	2	0	ZNF804B	88800732	0.005000	0.15991	1.000000	0.80357	0.662000	0.39071	1.185000	0.32065	2.050000	0.60909	0.528000	0.53228	CTC		0.443	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		4	107	0	0	0	0.000248	0	4	107				
SDHAP1	255812	broad.mit.edu	37	3	195698262	195698262	+	RNA	SNP	C	C	G	rs28503679	byFrequency	TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr3:195698262C>G	ENST00000427841.1	-	0	1610					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AATTTGTCAACATTCGTGACA	0.418																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698262C>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698262C>G								NR_003264.2						0	1610	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.418	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	102	0	0	0	0.000602	0	3	102				
SCAI	286205	broad.mit.edu	37	9	127790688	127790688	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr9:127790688C>A	ENST00000336505.6	-	5	454	c.396G>T	c.(394-396)caG>caT	p.Q132H	SCAI_ENST00000373549.4_Missense_Mutation_p.Q155H	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	132	Necessary to inhibit MKL1-induced SRF transcriptional activity. {ECO:0000250}.|Required for interaction with MKL1. {ECO:0000250}.				negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.Q155H(9)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						GATAGTATAGCTGCCCAATCT	0.338																																						ENST00000336505.5																			9	Substitution - Missense(9)	p.Q155H(9)	prostate(4)|kidney(3)|lung(2)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						c.(394-396)caG>caT		suppressor of cancer cell invasion							102.0	98.0	99.0					9																	127790688		1845	4080	5925	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127790688C>A	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.396G>T	9.37:g.127790688C>A	ENSP00000336756:p.Gln132His					SCAI_ENST00000373549.4_Missense_Mutation_p.Q155H	p.Q132H	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN			5	454	-			132			Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity).		Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.396G>T	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068788	0.76301	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.57595	0.39;0.4	5.75	5.75	0.90469	.	0.103001	0.64402	D	0.000002	T	0.73426	0.3585	M	0.70275	2.135	0.53688	D	0.999974	D;D	0.65815	0.991;0.995	D;D	0.78314	0.991;0.989	T	0.74429	-0.3668	10	0.87932	D	0	-10.9266	19.2998	0.94140	0.0:1.0:0.0:0.0	.	132;155	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	H	132;155	ENSP00000336756:Q132H;ENSP00000362650:Q155H	ENSP00000336756:Q132H	Q	-	3	2	SCAI	126830509	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.623000	0.46435	2.866000	0.98385	0.650000	0.86243	CAG		0.338	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		12	111	1	0	4.84862e-15	0.000978	6.49921e-15	12	111				
LRRC8A	56262	broad.mit.edu	37	9	131670524	131670524	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr9:131670524A>C	ENST00000259324.5	+	3	1604	c.1081A>C	c.(1081-1083)Agc>Cgc	p.S361R	LRRC8A_ENST00000372599.3_Missense_Mutation_p.S361R|LRRC8A_ENST00000372600.4_Missense_Mutation_p.S361R	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	361					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TGAGGAGAGCAGCTACAGCGA	0.547																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(1081-1083)Agc>Cgc		leucine rich repeat containing 8 family, member A							140.0	112.0	121.0					9																	131670524		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131670524A>C	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1081A>C	9.37:g.131670524A>C	ENSP00000259324:p.Ser361Arg					LRRC8A_ENST00000372599.3_Missense_Mutation_p.S361R|LRRC8A_ENST00000372600.4_Missense_Mutation_p.S361R	p.S361R	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			3	1604	+			361					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.1081A>C	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.740473	0.69304	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.21734	1.99;1.99;1.99	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.22205	0.0535	L	0.44542	1.39	0.58432	D	0.999999	P	0.50617	0.937	B	0.42851	0.4	T	0.01516	-1.1335	10	0.54805	T	0.06	.	14.5712	0.68213	1.0:0.0:0.0:0.0	.	361	Q8IWT6	LRC8A_HUMAN	R	361	ENSP00000361682:S361R;ENSP00000361680:S361R;ENSP00000259324:S361R	ENSP00000259324:S361R	S	+	1	0	LRRC8A	130710345	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.339000	0.96797	2.043000	0.60533	0.379000	0.24179	AGC		0.547	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		39	62	0	0	0	0.003610	0	39	62				
CPNE5	57699	broad.mit.edu	37	6	36710082	36710082	+	Missense_Mutation	SNP	C	C	T	rs3830138	byFrequency	TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr6:36710082C>T	ENST00000244751.2	-	21	2369	c.1745G>A	c.(1744-1746)cGc>cAc	p.R582H	CPNE5_ENST00000393189.2_Missense_Mutation_p.R290H|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	582			R -> H (in dbSNP:rs3830138).			extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGGGGGCGTGCGGGCTGGGGA	0.687													C|||	5	0.000998403	0.0	0.0	5008	,	,		12646	0.005		0.0	False		,,,				2504	0.0					ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1744-1746)cGc>cAc		copine V							36.0	40.0	39.0					6																	36710082		2201	4298	6499	SO:0001583	missense	57699							g.chr6:36710082C>T	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1745G>A	6.37:g.36710082C>T	ENSP00000244751:p.Arg582His					CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Missense_Mutation_p.R290H	p.R582H	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN			21	2369	-			582		R -> H (in dbSNP:rs3830138).			Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	c.1745G>A	CCDS4825.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	8.516	0.867691	0.17250	.	.	ENSG00000124772	ENST00000244751;ENST00000393189	T;T	0.12039	3.49;2.72	4.73	-3.39	0.04868	.	0.895550	0.10015	N	0.726697	T	0.01592	0.0051	N	0.08118	0	0.23669	N	0.997158	B	0.02656	0.0	B	0.01281	0.0	T	0.47275	-0.9130	10	0.32370	T	0.25	.	6.2884	0.21047	0.0:0.2098:0.1573:0.6329	rs3830138	582	Q9HCH3	CPNE5_HUMAN	H	582;290	ENSP00000244751:R582H;ENSP00000376885:R290H	ENSP00000244751:R582H	R	-	2	0	CPNE5	36818060	0.348000	0.24861	0.965000	0.40720	0.697000	0.40408	-0.354000	0.07681	-0.299000	0.08909	0.462000	0.41574	CGC		0.687	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		4	72	0	0	0	0.000248	0	4	72				
CSMD2	114784	broad.mit.edu	37	1	34089026	34089026	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr1:34089026G>T	ENST00000373380.1	-	15	2505	c.2285C>A	c.(2284-2286)tCg>tAg	p.S762*	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373381.4_Nonsense_Mutation_p.S1889*			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1849	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TACTTCCAGCGAGTCCCAGTT	0.502																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(5665-5667)tCg>tAg		CUB and Sushi multiple domains 2							124.0	108.0	114.0					1																	34089026		2203	4300	6503	SO:0001587	stop_gained	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34089026G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2285C>A	1.37:g.34089026G>T	ENSP00000362478:p.Ser762*					CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Nonsense_Mutation_p.S762*	p.S1889*	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			36	5842	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1849			CUB 11.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Nonsense_Mutation	SNP	ENST00000373380.1	37	c.5666C>A		.	.	.	.	.	.	.	.	.	.	G	49	15.042838	0.99820	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3798	0.90446	0.0:0.0:1.0:0.0	.	.	.	.	X	1889;762	.	ENSP00000241312:S1849X	S	-	2	0	CSMD2	33861613	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	9.405000	0.97313	2.687000	0.91594	0.561000	0.74099	TCG		0.502	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		50	82	1	0	2.73381e-35	0.003610	3.74413e-35	50	82				
HS3ST1	9957	broad.mit.edu	37	4	11400850	11400850	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr4:11400850G>A	ENST00000002596.5	-	2	1954	c.780C>T	c.(778-780)agC>agT	p.S260S		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	260					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGTCCCGGCCGCTGTCCCGCA	0.502																																						ENST00000002596.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(778-780)agC>agT		heparan sulfate (glucosamine) 3-O-sulfotransferase 1							46.0	48.0	47.0					4																	11400850		2203	4300	6503	SO:0001819	synonymous_variant	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11400850G>A	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.780C>T	4.37:g.11400850G>A							p.S260S	NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN			2	1954	-			260					B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	c.780C>T	CCDS3408.1																																																																																				0.502	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		6	125	0	0	0	0.001168	0	6	125				
DIO1	1733	broad.mit.edu	37	1	54360073	54360073	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr1:54360073A>G	ENST00000361921.3	+	1	214	c.190A>G	c.(190-192)Acc>Gcc	p.T64A	DIO1_ENST00000388876.3_Missense_Mutation_p.T64A|DIO1_ENST00000532493.1_Missense_Mutation_p.T64A|DIO1_ENST00000525202.1_Intron|DIO1_ENST00000524406.1_Intron|DIO1_ENST00000322679.6_Missense_Mutation_p.T64A|DIO1_ENST00000534069.1_3'UTR	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	64					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						CTGGATACCAACCTTTTTCAG	0.547																																						ENST00000361921.3																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						c.(190-192)Acc>Gcc		deiodinase, iodothyronine, type I							165.0	131.0	142.0					1																	54360073		2203	4300	6503	SO:0001583	missense	1733				hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity	g.chr1:54360073A>G		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.190A>G	1.37:g.54360073A>G	ENSP00000354643:p.Thr64Ala					DIO1_ENST00000388876.3_Missense_Mutation_p.T64A|DIO1_ENST00000322679.6_Missense_Mutation_p.T64A|DIO1_ENST00000525202.1_Intron|DIO1_ENST00000524406.1_Intron|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Missense_Mutation_p.T64A	p.T64A	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN			1	214	+			64					Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Missense_Mutation	SNP	ENST00000361921.3	37	c.190A>G	CCDS41339.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823536	0.71143	.	.	ENSG00000211452	ENST00000529589;ENST00000361921;ENST00000322679;ENST00000532493;ENST00000388876	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	4.93	4.93	0.64822	.	0.060237	0.64402	D	0.000002	T	0.54287	0.1849	M	0.75615	2.305	0.40192	D	0.977411	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.83275	0.994;0.996;0.994	T	0.57602	-0.7783	10	0.46703	T	0.11	.	13.3044	0.60345	1.0:0.0:0.0:0.0	.	64;64;64	P49895-5;P49895;P49895-4	.;IOD1_HUMAN;.	A	21;64;64;64;64	ENSP00000432797:T21A;ENSP00000354643:T64A;ENSP00000323198:T64A;ENSP00000434758:T64A;ENSP00000373528:T64A	ENSP00000323198:T64A	T	+	1	0	DIO1	54132661	0.985000	0.35326	0.842000	0.33263	0.722000	0.41435	5.280000	0.65603	2.072000	0.62099	0.533000	0.62120	ACC		0.547	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3			69	139	0	0	0	0.003610	0	69	139				
PABPN1	8106	broad.mit.edu	37	14	23792253	23792253	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr14:23792253C>T	ENST00000216727.4	+	3	693	c.512C>T	c.(511-513)gCc>gTc	p.A171V	PABPN1_ENST00000556821.1_Missense_Mutation_p.A43V|AL049829.1_ENST00000594872.1_5'Flank|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.A198V|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.A198V|PABPN1_ENST00000557702.1_Missense_Mutation_p.A43V|PABPN1_ENST00000397276.2_Missense_Mutation_p.A171V	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	171	Necessary for homooligomerization.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GAGGCTGATGCCCGTTCCATC	0.438																																						ENST00000397276.2																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(511-513)gCc>gTc		poly(A) binding protein, nuclear 1							129.0	134.0	132.0					14																	23792253		2203	4300	6503	SO:0001583	missense	8106							g.chr14:23792253C>T	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.512C>T	14.37:g.23792253C>T	ENSP00000216727:p.Ala171Val					PABPN1_ENST00000216727.4_Missense_Mutation_p.A171V|PABPN1_ENST00000556821.1_Missense_Mutation_p.A43V|PABPN1_ENST00000557702.1_Missense_Mutation_p.A43V|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.A198V|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.A198V	p.A171V						GBM - Glioblastoma multiforme(265;0.00643)	3	525	+	all_cancers(95;6.69e-06)							D3DS49|O43484	Missense_Mutation	SNP	ENST00000216727.4	37	c.512C>T	CCDS9592.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197917	0.79015	.	.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702	T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78;-0.78	5.22	4.33	0.51752	Nucleotide-binding, alpha-beta plait (1);	0.118544	0.56097	D	0.000036	T	0.76543	0.4002	M	0.67517	2.055	0.48511	D	0.999667	P;P;P	0.41597	0.609;0.728;0.756	B;P;P	0.46076	0.269;0.458;0.503	T	0.78112	-0.2331	10	0.54805	T	0.06	-1.8876	12.7988	0.57573	0.0:0.9192:0.0:0.0808	.	171;171;198	Q86U42;Q86U42-2;G3V5R7	PABP2_HUMAN;.;.	V	198;198;171;171;43;43	ENSP00000451320:A198V;ENSP00000452479:A198V;ENSP00000216727:A171V;ENSP00000380446:A171V;ENSP00000451970:A43V;ENSP00000450724:A43V	ENSP00000216727:A171V	A	+	2	0	PABPN1;RP11-124D2.2	22862093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.082000	0.57635	1.329000	0.45376	0.561000	0.74099	GCC		0.438	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643		4	242	0	0	0	0.000602	0	4	242				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000413193.2_Splice_Site_p.H228R|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000355232.3_Splice_Site_p.H157R			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	4	73	0	0	0	0.000602	0	4	73				
UBB	7314	broad.mit.edu	37	17	16285560	16285560	+	Silent	SNP	T	T	C			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr17:16285560T>C	ENST00000395837.1	+	2	520	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000578649.1_Intron|UBB_ENST00000302182.3_Silent_p.P113P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000535788.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(337-339)ccT>ccC		ubiquitin B							115.0	112.0	113.0					17																	16285560		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285560T>C		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.339T>C	17.37:g.16285560T>C						RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron	p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	731	+			113			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.339T>C	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		4	197	0	0	0	0.000248	0	4	197				
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	lincRNA	SNP	A	A	G	rs577974396	byFrequency	TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522																																						ENST00000565869.1																			0																																																			0							g.chr15:78211648A>G																													15.37:g.78211648A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.522	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	88	0	0	0	0.001168	0	4	88				
SUV420H2	84787	broad.mit.edu	37	19	55853326	55853326	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr19:55853326G>A	ENST00000255613.3	+	2	270	c.22G>A	c.(22-24)Gca>Aca	p.A8T	AC020922.1_ENST00000539076.1_5'UTR|SUV420H2_ENST00000402499.4_3'UTR	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	8					histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGAGTGACAGCACGAGAACT	0.652																																						ENST00000255613.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4						c.(22-24)Gca>Aca		suppressor of variegation 4-20 homolog 2 (Drosophila)							107.0	92.0	97.0					19																	55853326		2203	4300	6503	SO:0001583	missense	84787				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr19:55853326G>A	BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"""Chromatin-modifying enzymes / K-methyltransferases"""	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.22G>A	19.37:g.55853326G>A	ENSP00000255613:p.Ala8Thr					AC020922.1_ENST00000539076.1_5'UTR|SUV420H2_ENST00000402499.4_3'UTR	p.A8T	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	2	270	+	Breast(117;0.191)		8					Q8WZ10|Q9BRZ6	Missense_Mutation	SNP	ENST00000255613.3	37	c.22G>A	CCDS12922.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331912	0.81801	.	.	ENSG00000133247	ENST00000255613;ENST00000402499	.	.	.	3.35	2.29	0.28610	.	0.100342	0.38436	N	0.001683	T	0.65302	0.2678	L	0.49126	1.545	0.46279	D	0.998962	D	0.76494	0.999	D	0.63488	0.915	T	0.65776	-0.6086	9	0.51188	T	0.08	0.7173	11.485	0.50348	0.0:0.0:0.8176:0.1823	.	8	Q86Y97	SV422_HUMAN	T	8	.	ENSP00000255613:A8T	A	+	1	0	SUV420H2	60545138	1.000000	0.71417	0.964000	0.40570	0.765000	0.43378	7.043000	0.76572	0.945000	0.37605	-0.311000	0.09066	GCA		0.652	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318309.2	NM_032701		9	143	0	0	0	0.006214	0	9	143				
ZC3H14	79882	broad.mit.edu	37	14	89075665	89075665	+	Silent	SNP	T	T	C			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr14:89075665T>C	ENST00000251038.5	+	14	2148	c.1923T>C	c.(1921-1923)tgT>tgC	p.C641C	ZC3H14_ENST00000318308.6_Silent_p.C212C|ZC3H14_ENST00000336693.4_Silent_p.C476C|ZC3H14_ENST00000557607.1_Silent_p.C330C|ZC3H14_ENST00000555755.1_Silent_p.C636C|ZC3H14_ENST00000359301.3_Silent_p.C476C|ZC3H14_ENST00000393514.5_Silent_p.C616C|ZC3H14_ENST00000406216.3_Silent_p.C187C|ZC3H14_ENST00000302216.8_Silent_p.C485C|ZC3H14_ENST00000555900.1_Silent_p.C343C|ZC3H14_ENST00000556945.1_Silent_p.C510C	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	641						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ACCCAAATTGTAAATATGATG	0.358																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(1921-1923)tgT>tgC		zinc finger CCCH-type containing 14							121.0	110.0	114.0					14																	89075665		2203	4300	6503	SO:0001819	synonymous_variant	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89075665T>C	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1923T>C	14.37:g.89075665T>C						ZC3H14_ENST00000556945.1_Silent_p.C510C|ZC3H14_ENST00000555900.1_Silent_p.C343C|ZC3H14_ENST00000555755.1_Silent_p.C636C|ZC3H14_ENST00000557607.1_Silent_p.C330C|ZC3H14_ENST00000406216.3_Silent_p.C187C|ZC3H14_ENST00000393514.5_Silent_p.C616C|ZC3H14_ENST00000359301.3_Silent_p.C476C|ZC3H14_ENST00000336693.4_Silent_p.C476C|ZC3H14_ENST00000318308.6_Silent_p.C212C|ZC3H14_ENST00000302216.8_Silent_p.C485C	p.C641C	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			14	2148	+			641					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Silent	SNP	ENST00000251038.5	37	c.1923T>C	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	T	9.930	1.214623	0.22289	.	.	ENSG00000100722	ENST00000556000	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	T	0.73024	0.3534	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72243	-0.4350	4	.	.	.	-10.976	16.1205	0.81351	0.0:0.0:0.0:1.0	.	.	.	.	A	557	.	.	V	+	2	0	ZC3H14	88145418	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.763000	0.62257	2.205000	0.71048	0.533000	0.62120	GTA		0.358	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		3	153	0	0	0	0.004672	0	3	153				
C16orf58	64755	broad.mit.edu	37	16	31504977	31504977	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr16:31504977C>G	ENST00000327237.2	-	8	944	c.905G>C	c.(904-906)aGg>aCg	p.R302T	C16orf58_ENST00000570164.1_Missense_Mutation_p.R300T|C16orf58_ENST00000567994.1_Missense_Mutation_p.R257T|C16orf58_ENST00000430477.2_Missense_Mutation_p.R160T			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	302						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						TACCTCTCCCCTCTGAAGGTA	0.632																																						ENST00000327237.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						c.(904-906)aGg>aCg		chromosome 16 open reading frame 58							62.0	65.0	64.0					16																	31504977		2197	4300	6497	SO:0001583	missense	64755					integral to membrane		g.chr16:31504977C>G	AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.905G>C	16.37:g.31504977C>G	ENSP00000317579:p.Arg302Thr					C16orf58_ENST00000570164.1_Missense_Mutation_p.R300T|C16orf58_ENST00000430477.2_Missense_Mutation_p.R160T|C16orf58_ENST00000567994.1_Missense_Mutation_p.R257T	p.R302T			Q96GQ5	CP058_HUMAN			8	944	-			302					Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Missense_Mutation	SNP	ENST00000327237.2	37	c.905G>C	CCDS10715.1	.	.	.	.	.	.	.	.	.	.	C	5.993	0.367071	0.11352	.	.	ENSG00000140688	ENST00000327237;ENST00000452223;ENST00000430477	T;T	0.40225	1.04;1.04	5.57	-0.365	0.12549	.	0.567353	0.20271	N	0.095670	T	0.10637	0.0260	N	0.00808	-1.17	0.22240	N	0.999269	B;B	0.06786	0.001;0.001	B;B	0.17979	0.001;0.02	T	0.33214	-0.9877	10	0.10902	T	0.67	-2.3546	5.0782	0.14642	0.0:0.4203:0.1454:0.4343	.	160;302	B4DJP2;Q96GQ5	.;CP058_HUMAN	T	302;256;160	ENSP00000317579:R302T;ENSP00000398074:R160T	ENSP00000317579:R302T	R	-	2	0	C16orf58	31412478	0.000000	0.05858	0.793000	0.32043	0.967000	0.64934	0.072000	0.14617	-0.040000	0.13580	0.563000	0.77884	AGG		0.632	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255629.2	NM_022744		10	58	0	0	0	0.000978	0	10	58				
CDHR5	53841	broad.mit.edu	37	11	624828	624828	+	Silent	SNP	G	G	T			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr11:624828G>T	ENST00000358353.3	-	2	397	c.75C>A	c.(73-75)gcC>gcA	p.A25A	CDHR5_ENST00000397542.2_Silent_p.A25A|CDHR5_ENST00000529337.1_Intron|CDHR5_ENST00000349570.7_Silent_p.A25A			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	25					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ACTGGGCCTGGGCCATGGTCC	0.701																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(73-75)gcC>gcA		cadherin-related family member 5							20.0	22.0	21.0					11																	624828		2200	4298	6498	SO:0001819	synonymous_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:624828G>T	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.75C>A	11.37:g.624828G>T						CDHR5_ENST00000529337.1_Intron|CDHR5_ENST00000349570.7_Silent_p.A25A|CDHR5_ENST00000397542.2_Silent_p.A25A	p.A25A			Q9HBB8	CDHR5_HUMAN			2	397	-			25					C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	c.75C>A	CCDS7707.1																																																																																				0.701	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		7	15	1	0	0.00198382	0.001984	0.00240347	7	15				
ZNF106	64397	broad.mit.edu	37	15	42713287	42713287	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr15:42713287A>C	ENST00000263805.4	-	17	5746	c.5420T>G	c.(5419-5421)cTt>cGt	p.L1807R	ZNF106_ENST00000565611.1_Missense_Mutation_p.L992R|ZNF106_ENST00000565660.1_5'Flank|ZNF106_ENST00000565380.1_Missense_Mutation_p.L1035R	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1807					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CATCAGATTAAGCCTCACGGC	0.413																																						ENST00000263805.4																			0											c.(5419-5421)cTt>cGt		zinc finger protein 106							174.0	164.0	167.0					15																	42713287		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42713287A>C	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.5420T>G	15.37:g.42713287A>C	ENSP00000263805:p.Leu1807Arg					ZNF106_ENST00000565380.1_Missense_Mutation_p.L1035R|ZNF106_ENST00000565611.1_Missense_Mutation_p.L992R	p.L1807R	NM_022473.1	NP_071918.1					17	5746	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.5420T>G	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.991774	0.93106	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.21191	2.02	5.43	5.43	0.79202	WD40-repeat-containing domain (1);	0.229124	0.37095	N	0.002243	T	0.34337	0.0894	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.986;0.992;0.986	T	0.12604	-1.0541	10	0.72032	D	0.01	-10.0167	15.6269	0.76867	1.0:0.0:0.0:0.0	.	1035;1807;1035	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	R	1807;1035	ENSP00000263805:L1807R	ENSP00000263805:L1807R	L	-	2	0	ZFP106	40500579	1.000000	0.71417	0.928000	0.36995	0.982000	0.71751	8.684000	0.91242	2.276000	0.75962	0.460000	0.39030	CTT		0.413	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		14	156	0	0	0	0.001855	0	14	156				
MAP3K8	1326	broad.mit.edu	37	10	30736732	30736732	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr10:30736732C>T	ENST00000263056.1	+	4	1054	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	MAP3K8_ENST00000542547.1_Missense_Mutation_p.R120C|MAP3K8_ENST00000375321.1_Missense_Mutation_p.R120C	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	120					cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CCAAAATGGACGTTACCAAAT	0.433																																						ENST00000263056.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(358-360)Cgt>Tgt		mitogen-activated protein kinase kinase kinase 8							124.0	119.0	121.0					10																	30736732		2203	4300	6503	SO:0001583	missense	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30736732C>T	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.358C>T	10.37:g.30736732C>T	ENSP00000263056:p.Arg120Cys					MAP3K8_ENST00000542547.1_Missense_Mutation_p.R120C|MAP3K8_ENST00000375321.1_Missense_Mutation_p.R120C	p.R120C	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN			4	1054	+		Prostate(175;0.151)	120					A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	c.358C>T	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409499	0.83340	.	.	ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000415139;ENST00000413724;ENST00000375321	T;T;T;T;T	0.71461	-0.57;-0.57;4.3;1.31;-0.57	5.59	4.6	0.57074	Protein kinase-like domain (1);	0.048714	0.85682	D	0.000000	T	0.73071	0.3540	N	0.24115	0.695	0.58432	D	0.999996	D	0.89917	1.0	P	0.61722	0.893	T	0.77278	-0.2647	10	0.72032	D	0.01	.	17.1839	0.86861	0.1347:0.8653:0.0:0.0	.	120	P41279	M3K8_HUMAN	C	120	ENSP00000263056:R120C;ENSP00000443610:R120C;ENSP00000409653:R120C;ENSP00000391275:R120C;ENSP00000364470:R120C	ENSP00000263056:R120C	R	+	1	0	MAP3K8	30776738	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	5.515000	0.67049	2.639000	0.89480	0.655000	0.94253	CGT		0.433	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		80	122	0	0	0	0.003610	0	80	122				
SASH1	23328	broad.mit.edu	37	6	148664242	148664243	+	In_Frame_Ins	INS	-	-	GAGCCC	rs76317765|rs569482367	byFrequency	TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr6:148664242_148664243insGAGCCC	ENST00000367467.3	+	1	514_515	c.39_40insGAGCCC	c.(40-42)gag>GAGCCCgag	p.14_14E>EPE	SASH1_ENST00000367469.1_Intron	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	14	Pro-rich.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ggccggagcctgagcccgagcc	0.792														393	0.0784744	0.0159	0.0879	5008	,	,		6564	0.1151		0.1571	False		,,,				2504	0.0378					ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(37-42)ccagcc>ccGAGCCCagcc		SAM and SH3 domain containing 1				105,3589		18,69,1760						-8.8	0.0			7	1036,6366		164,708,2829	no	coding	SASH1	NM_015278.3		182,777,4589	A1A1,A1R,RR		13.9962,2.8424,10.283				1141,9955				SO:0001652	inframe_insertion	23328						protein binding	g.chr6:148664242_148664243insGAGCCC	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.46_51dupGAGCCC	6.37:g.148664243_148664248dupGAGCCC	ENSP00000356437:p.ProGlu22dup					SASH1_ENST00000367469.1_Intron	p.12_13insPS	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	1	514_515	+		Ovarian(120;0.0169)	12			Pro-rich.		Q5TGN5|Q8TAI0|Q9H7R7	In_Frame_Ins	INS	ENST00000367467.3	37	c.39_40insGAGCCC	CCDS5212.1																																																																																				0.792	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		4	7						4	7	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651228	+	In_Frame_Del	DEL	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	-	rs190828070|rs71454096|rs71025763|rs144216147|rs369130959	byFrequency	TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENST00000399676.2	+	1	167_196	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	c.(127-159)ggaggctgtgggggctgtggctccggctgtgcg>ggg	p.GCGGCGSGCA44del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	44						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg	0.691																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(127-159)ggg>gg		keratin associated protein 5-5				1550,180,1680		393,53,711,32,63,453						3.0	0.7		dbSNP_130	23	2914,455,3725		670,91,1483,84,196,1023	no	codingComplex	KRTAP5-5	NM_001001480.2		1063,144,2194,116,259,1476	A1A1,A1A2,A1R,A2A2,A2R,RR		47.4908,50.7331,48.5434				4464,635,5405				SO:0001651	inframe_deletion	439915					keratin filament		g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	11.37:g.1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENSP00000382584:p.Gly44_Ala53del						p.GGCGGCGSGCA43del	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	167_196	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	43	G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).				A8MWN2	In_Frame_Del	DEL	ENST00000399676.2	37	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	CCDS41592.1																																																																																				0.691	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			11	58						11	58	---	---	---	---
ONECUT1	3175	broad.mit.edu	37	15	53081466	53081467	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr15:53081466_53081467insG	ENST00000305901.5	-	1	742_743	c.615_616insC	c.(613-618)gccgccfs	p.A206fs	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	206					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GTGGGCATGGCGGCCCCCGGGT	0.713																																						ENST00000305901.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(613-618)gcccatfs		one cut homeobox 1																																				SO:0001589	frameshift_variant	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081466_53081467insG	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.616dupC	15.37:g.53081468_53081468dupG	ENSP00000302630:p.Ala206fs					ONECUT1_ENST00000561401.2_Intron	p.H206fs	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	742_743	-			206					B2RTV4|Q99744|Q9UMR6	Frame_Shift_Ins	INS	ENST00000305901.5	37	c.615_616insC	CCDS10150.1																																																																																				0.713	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			11	172						11	172	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74378976	74378976	+	RNA	DEL	T	T	-	rs35591542		TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr16:74378976delT	ENST00000429810.2	-	0	1086																											ACCTCTTGAAttttttttttt	0.418																																						ENST00000429810.2																			0																																																			0							g.chr16:74378976delT																													16.37:g.74378976delT														0	1086	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.418	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			2	4						2	4	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			2	4						2	4	---	---	---	---
CRYBB2P1	1416	broad.mit.edu	37	22	25853204	25853205	+	RNA	INS	-	-	C	rs569546138	byFrequency	TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chr22:25853204_25853205insC	ENST00000609084.1	+	0	0									crystallin, beta B2 pseudogene 1																		CATACTCACTTCCCCCCATCCT	0.535													cccccc|CCCCCC|CCCCCCC|insertion	6	0.00119808	0.0	0.0014	5008	,	,		20840	0.0		0.003	False		,,,				2504	0.002					ENST00000354451.2																			0																																																			0							g.chr22:25853204_25853205insC	M18441		22q11.2-q12.1	2012-02-29			ENSG00000100058	ENSG00000100058			2399	pseudogene	pseudogene				CRYB2B			Standard	NR_033733		Approved		uc003abu.4		OTTHUMG00000150874		22.37:g.25853210_25853210dupC														0	123	+									RNA	INS	ENST00000609084.1	37																																																																																						0.535	CRYBB2P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472347.1			8	10						8	10	---	---	---	---
VCX3B	425054	broad.mit.edu	37	X	8434047	8434076	+	In_Frame_Del	DEL	GAACCACTGAGTCAGGAGAGCCAGGTGGAG	GAACCACTGAGTCAGGAGAGCCAGGTGGAG	-	rs5978241|rs5978242		TCGA-BJ-A0ZF-01A-11D-A10S-08	TCGA-BJ-A0ZF-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	362c568e-71ea-44ff-89a4-12f2a88c4134	36a50022-0a00-48e8-844d-92cf8c0758de	g.chrX:8434047_8434076delGAACCACTGAGTCAGGAGAGCCAGGTGGAG	ENST00000381032.1	+	3	671_700	c.364_393delGAACCACTGAGTCAGGAGAGCCAGGTGGAG	c.(364-393)gaaccactgagtcaggagagccaggtggagdel	p.EPLSQESQVE122del	VCX3B_ENST00000381029.4_In_Frame_Del_p.EPLSQESQVE100del|VCX3B_ENST00000444481.1_Splice_Site_p.EPLSQESQ122del|VCX3B_ENST00000440654.2_Intron|VCX3B_ENST00000453306.1_In_Frame_Del_p.EPLSQESQVE122del	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	122	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						CGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGA	0.622																																						ENST00000381032.1																			0				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						c.(364-393)del		variable charge, X-linked 3B																																				SO:0001651	inframe_deletion	0					nucleolus		g.chrX:8434047_8434076delGAACCACTGAGTCAGGAGAGCCAGGTGGAG		CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.364_393delGAACCACTGAGTCAGGAGAGCCAGGTGGAG	X.37:g.8434047_8434076delGAACCACTGAGTCAGGAGAGCCAGGTGGAG	ENSP00000370420:p.Glu122_Glu131del					VCX3B_ENST00000453306.1_In_Frame_Del_p.EPLSQESQVE122del|VCX3B_ENST00000381029.4_In_Frame_Del_p.EPLSQESQVE100del|VCX3B_ENST00000444481.1_Splice_Site_p.122_splice|VCX3B_ENST00000440654.2_Intron	p.EPLSQESQVE122del	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN			3	671_700	+			122			11 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.		C9JS46|Q4KN12	In_Frame_Del	DEL	ENST00000381032.1	37	c.364_393delGAACCACTGAGTCAGGAGAGCCAGGTGGAG	CCDS48077.2																																																																																				0.622	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1			8	52						8	52	---	---	---	---
