#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
ZNF835	90485	broad.mit.edu	37	19	57176221	57176221	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:57176221C>T	ENST00000537055.2	-	2	577	c.346G>A	c.(346-348)Ggg>Agg	p.G116R		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AAGGCCTTCCCGCAGTCCCCG	0.637																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(346-348)Ggg>Agg		zinc finger protein 835							68.0	80.0	76.0					19																	57176221		2196	4298	6494	SO:0001583	missense	90485							g.chr19:57176221C>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.346G>A	19.37:g.57176221C>T	ENSP00000444747:p.Gly116Arg						p.G116R	NM_001005850.2	NP_001005850.2					2	577	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.346G>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170674	0.78452	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.35789	1.29	2.79	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39937	0.1097	N	0.19112	0.55	0.29371	N	0.863965	D	0.89917	1.0	D	0.78314	0.991	T	0.26326	-1.0106	9	0.59425	D	0.04	.	7.423	0.27083	0.0:0.8617:0.0:0.1383	.	138	Q9Y2P0	ZN835_HUMAN	R	138;116	ENSP00000444747:G116R	ENSP00000341756:G138R	G	-	1	0	ZNF835	61868033	0.076000	0.21285	0.062000	0.19696	0.436000	0.31835	3.407000	0.52644	0.512000	0.28257	0.561000	0.74099	GGG		0.637	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		40	134	0	0	0	1	0	40	134				
PALD1	27143	broad.mit.edu	37	10	72294536	72294536	+	Silent	SNP	G	G	C	rs534104118		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr10:72294536G>C	ENST00000263563.6	+	10	1432	c.1164G>C	c.(1162-1164)ctG>ctC	p.L388L		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	388						cytosol (GO:0005829)											TGCATGACCTGAAAGAAGTGG	0.577													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16640	0.0		0.0	False		,,,				2504	0.0					ENST00000263563.6																			0											c.(1162-1164)ctG>ctC		phosphatase domain containing, paladin 1							72.0	67.0	68.0					10																	72294536		2203	4300	6503	SO:0001819	synonymous_variant	27143							g.chr10:72294536G>C	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1164G>C	10.37:g.72294536G>C							p.L388L	NM_014431.2	NP_055246.2					10	1432	+								B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Silent	SNP	ENST00000263563.6	37	c.1164G>C	CCDS31215.1																																																																																				0.577	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		4	38	0	0	0	1	0	4	38				
PGAP1	80055	broad.mit.edu	37	2	197708751	197708751	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:197708751C>G	ENST00000354764.4	-	25	2500	c.2386G>C	c.(2386-2388)Gac>Cac	p.D796H		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	796					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ATTGAGGAGTCTTTATGATGA	0.333																																						ENST00000354764.3																			0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(2386-2388)Gac>Cac		post-GPI attachment to proteins 1							151.0	140.0	143.0					2																	197708751		2203	4300	6503	SO:0001583	missense	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197708751C>G		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2386G>C	2.37:g.197708751C>G	ENSP00000346809:p.Asp796His						p.D796H	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN			25	2500	-			796					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	ENST00000354764.4	37	c.2386G>C	CCDS2318.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784830	0.49997	.	.	ENSG00000197121	ENST00000354764;ENST00000422444	T;T	0.52754	0.65;0.65	4.62	3.72	0.42706	.	0.444482	0.22254	N	0.062508	T	0.33933	0.0880	N	0.19112	0.55	0.80722	D	1	P;P	0.51791	0.948;0.697	P;B	0.47162	0.54;0.275	T	0.02282	-1.1183	10	0.13853	T	0.58	-11.5582	10.6654	0.45728	0.0:0.8468:0.0:0.1532	.	622;796	Q75T13-2;Q75T13	.;PGAP1_HUMAN	H	796;68	ENSP00000346809:D796H;ENSP00000390555:D68H	ENSP00000346809:D796H	D	-	1	0	PGAP1	197416996	0.998000	0.40836	0.998000	0.56505	0.649000	0.38597	1.212000	0.32394	2.390000	0.81377	0.455000	0.32223	GAC		0.333	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	NM_024989		11	59	0	0	0	1	0	11	59				
CENPN	55839	broad.mit.edu	37	16	81053755	81053755	+	Silent	SNP	T	T	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:81053755T>C	ENST00000305850.5	+	6	1195	c.405T>C	c.(403-405)atT>atC	p.I135I	CENPN_ENST00000428963.2_Silent_p.I135I|CMC2_ENST00000565914.1_Intron|CENPN_ENST00000299572.5_Silent_p.I135I|CENPN_ENST00000393335.3_Silent_p.I135I|CENPN_ENST00000439957.3_Silent_p.I115I|RP11-303E16.3_ENST00000562315.1_RNA	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	135					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|large_intestine(5)|lung(4)	10						GGATTCGAATTGCCTGGGGAA	0.428																																						ENST00000305850.5																			0				breast(1)|large_intestine(5)|lung(4)	10						c.(403-405)atT>atC		centromere protein N							126.0	97.0	107.0					16																	81053755		2202	4300	6502	SO:0001819	synonymous_variant	55839				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		g.chr16:81053755T>C	AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"""chromosome 16 open reading frame 60"""	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000305850.5:c.405T>C	16.37:g.81053755T>C						CMC2_ENST00000565914.1_Intron|CENPN_ENST00000439957.3_Silent_p.I115I|RP11-303E16.3_ENST00000562315.1_RNA|CENPN_ENST00000299572.5_Silent_p.I135I|CENPN_ENST00000428963.2_Silent_p.I135I|CENPN_ENST00000393335.3_Silent_p.I135I	p.I135I	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN			6	1195	+			135					A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Silent	SNP	ENST00000305850.5	37	c.405T>C	CCDS42200.1																																																																																				0.428	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269051.1	NM_018455		9	79	0	0	0	1	0	9	79				
CDK17	5128	broad.mit.edu	37	12	96683014	96683014	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:96683014A>G	ENST00000261211.3	-	11	1652	c.1049T>C	c.(1048-1050)gTc>gCc	p.V350A	CDK17_ENST00000543119.2_Missense_Mutation_p.V350A|CDK17_ENST00000542666.1_Missense_Mutation_p.V297A|CDK17_ENST00000553042.1_5'Flank	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	350	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						CCATAGTGTGACAACTTCATT	0.413																																						ENST00000261211.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						c.(1048-1050)gTc>gCc		cyclin-dependent kinase 17							205.0	174.0	185.0					12																	96683014		2203	4300	6503	SO:0001583	missense	5128						ATP binding|cyclin-dependent protein kinase activity	g.chr12:96683014A>G		CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.1049T>C	12.37:g.96683014A>G	ENSP00000261211:p.Val350Ala					CDK17_ENST00000543119.2_Missense_Mutation_p.V350A|CDK17_ENST00000542666.1_Missense_Mutation_p.V297A	p.V350A	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN			11	1652	-			350			Protein kinase.		A8K1U6|B2RCQ2|Q8NEB8	Missense_Mutation	SNP	ENST00000261211.3	37	c.1049T>C	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	A	30	5.057144	0.93846	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	T;T;T	0.64991	-0.13;-0.13;-0.13	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73194	0.3556	L	0.45285	1.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.76208	-0.3043	10	0.87932	D	0	-7.7612	15.5116	0.75786	1.0:0.0:0.0:0.0	.	350;350	A8K1U6;Q00537	.;CDK17_HUMAN	A	350;350;297	ENSP00000261211:V350A;ENSP00000444459:V350A;ENSP00000442926:V297A	ENSP00000261211:V350A	V	-	2	0	CDK17	95207145	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.287000	0.95975	2.118000	0.64928	0.460000	0.39030	GTC		0.413	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595		9	150	0	0	0	1	0	9	150				
XPO7	23039	broad.mit.edu	37	8	21842252	21842252	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr8:21842252G>C	ENST00000252512.9	+	12	1473	c.1373G>C	c.(1372-1374)tGt>tCt	p.C458S	XPO7_ENST00000434536.1_Missense_Mutation_p.C467S|XPO7_ENST00000433566.4_Missense_Mutation_p.C459S	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	458					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GAGAAGACGTGTGCACTCCTC	0.577																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1399-1401)tGt>tCt		exportin 7							73.0	75.0	75.0					8																	21842252		2098	4219	6317	SO:0001583	missense	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21842252G>C	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1373G>C	8.37:g.21842252G>C	ENSP00000252512:p.Cys458Ser					XPO7_ENST00000433566.4_Missense_Mutation_p.C459S|XPO7_ENST00000252512.9_Missense_Mutation_p.C458S	p.C467S			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	12	1502	+			458					O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	c.1400G>C	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287269	0.80803	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.65732	-0.17;-0.17;-0.17	5.4	5.4	0.78164	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74581	0.3735	M	0.75264	2.295	0.80722	D	1	D;B;B	0.58620	0.983;0.141;0.066	P;B;B	0.56788	0.806;0.067;0.067	T	0.70868	-0.4755	10	0.20519	T	0.43	-8.7246	18.7803	0.91930	0.0:0.0:1.0:0.0	.	459;467;458	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	S	467;458;459	ENSP00000404853:C467S;ENSP00000252512:C458S;ENSP00000410249:C459S	ENSP00000252512:C458S	C	+	2	0	XPO7	21898198	1.000000	0.71417	0.953000	0.39169	0.695000	0.40330	9.841000	0.99482	2.536000	0.85505	0.467000	0.42956	TGT		0.577	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		10	38	0	0	0	1	0	10	38				
NCOA6	23054	broad.mit.edu	37	20	33329072	33329072	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr20:33329072G>T	ENST00000374796.2	-	12	7558	c.4988C>A	c.(4987-4989)tCa>tAa	p.S1663*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.S1663*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1663	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TATTGAGGATGAATTGATAAA	0.488																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(4987-4989)tCa>tAa		nuclear receptor coactivator 6							110.0	109.0	110.0					20																	33329072		2203	4300	6503	SO:0001587	stop_gained	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33329072G>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4988C>A	20.37:g.33329072G>T	ENSP00000363929:p.Ser1663*					NCOA6_ENST00000359003.2_Nonsense_Mutation_p.S1663*	p.S1663*			Q14686	NCOA6_HUMAN			12	7558	-			1663			EP300/CRSP3-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Nonsense_Mutation	SNP	ENST00000374796.2	37	c.4988C>A	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	57	28.397511	0.99973	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	.	.	.	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2689	19.4909	0.95049	0.0:0.0:1.0:0.0	.	.	.	.	X	1663	.	ENSP00000351894:S1663X	S	-	2	0	NCOA6	32792733	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.880000	0.75578	2.847000	0.97988	0.591000	0.81541	TCA		0.488	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		35	66	1	0	1.06647e-15	1	1.14265e-15	35	66				
ALPPL2	251	broad.mit.edu	37	2	233271635	233271635	+	Missense_Mutation	SNP	G	G	C	rs543783627		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:233271635G>C	ENST00000295453.3	+	1	83	c.31G>C	c.(31-33)Ggc>Cgc	p.G11R		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	11					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GCTCCTGCTGGGCCTGAGGCT	0.647																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(31-33)Ggc>Cgc		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						75.0	79.0	77.0					2																	233271635		2203	4300	6503	SO:0001583	missense	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233271635G>C	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.31G>C	2.37:g.233271635G>C	ENSP00000295453:p.Gly11Arg						p.G11R	NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	1	83	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	11					A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	c.31G>C	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956808	0.34565	.	.	ENSG00000163286	ENST00000295453	T	0.60171	0.21	2.19	1.3	0.21679	.	1.118310	0.06690	N	0.769423	T	0.74711	0.3752	M	0.88979	2.995	0.22851	N	0.998651	D	0.89917	1.0	D	0.91635	0.999	T	0.53599	-0.8416	10	0.32370	T	0.25	.	2.2303	0.03994	0.2993:0.0:0.4533:0.2474	.	11	P10696	PPBN_HUMAN	R	11	ENSP00000295453:G11R	ENSP00000295453:G11R	G	+	1	0	ALPPL2	232979879	0.011000	0.17503	0.848000	0.33437	0.006000	0.05464	0.645000	0.24782	0.478000	0.27488	0.205000	0.17691	GGC		0.647	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		12	71	0	0	0	1	0	12	71				
VPS13C	54832	broad.mit.edu	37	15	62170909	62170909	+	Missense_Mutation	SNP	C	C	T	rs559514846		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr15:62170909C>T	ENST00000261517.5	-	74	10112	c.10039G>A	c.(10039-10041)Gaa>Aaa	p.E3347K	VPS13C_ENST00000395896.4_Missense_Mutation_p.E3347K|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000249837.3_Missense_Mutation_p.E3304K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E3304K	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTGTCTGATTCTTCACCTCCG	0.338																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(10039-10041)Gaa>Aaa		vacuolar protein sorting 13 homolog C (S. cerevisiae)							80.0	67.0	71.0					15																	62170909		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62170909C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10039G>A	15.37:g.62170909C>T	ENSP00000261517:p.Glu3347Lys					VPS13C_ENST00000395898.3_Missense_Mutation_p.E3304K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E3304K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E3347K|VPS13C_ENST00000558919.1_5'UTR	p.E3347K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			74	10112	-			3347						Missense_Mutation	SNP	ENST00000261517.5	37	c.10039G>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738338	0.69304	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.78816	-1.21;-1.21;-1.21	5.61	5.61	0.85477	.	0.843828	0.10763	N	0.636853	T	0.81307	0.4795	L	0.61218	1.895	0.28929	N	0.89169	B;P;P;B	0.46621	0.371;0.721;0.881;0.212	B;B;P;B	0.47864	0.137;0.373;0.559;0.094	T	0.75342	-0.3351	10	0.40728	T	0.16	.	15.1601	0.72778	0.0:0.8593:0.1407:0.0	.	3304;3347;3304;3347	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	K	3304;3347;3347;3347	ENSP00000249837:E3304K;ENSP00000261517:E3347K;ENSP00000379233:E3347K	ENSP00000249837:E3304K	E	-	1	0	VPS13C	59958201	0.998000	0.40836	0.972000	0.41901	0.960000	0.62799	3.011000	0.49567	2.643000	0.89663	0.650000	0.86243	GAA		0.338	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		12	40	0	0	0	1	0	12	40				
TTN	7273	broad.mit.edu	37	2	179589210	179589210	+	Silent	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:179589210C>G	ENST00000591111.1	-	70	20165	c.19941G>C	c.(19939-19941)acG>acC	p.T6647T	TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.T6964T|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.T5720T|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12249	Ig-like 48.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGAGTGCACGTTTCTCCTA	0.473																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(20890-20892)acG>acC		titin							77.0	74.0	75.0					2																	179589210		1994	4160	6154	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179589210C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19941G>C	2.37:g.179589210C>G						TTN_ENST00000342992.6_Silent_p.T5720T|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.T6647T|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.T6964T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		72	21116	-			6647			Ig-like 51.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.20892G>C																																																																																					0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	46	0	0	0	1	0	12	46				
FLG2	388698	broad.mit.edu	37	1	152328285	152328285	+	Silent	SNP	T	T	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:152328285T>A	ENST00000388718.5	-	3	2049	c.1977A>T	c.(1975-1977)ggA>ggT	p.G659G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	659	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGCCTGATCCATATTGGC	0.493																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(1975-1977)ggA>ggT		filaggrin family member 2							231.0	242.0	238.0					1																	152328285		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152328285T>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1977A>T	1.37:g.152328285T>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.G659G	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2049	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		659			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.1977A>T	CCDS30861.1																																																																																				0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		44	586	0	0	0	1	0	44	586				
CDH6	1004	broad.mit.edu	37	5	31323359	31323359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:31323359C>T	ENST00000265071.2	+	12	2582	c.2317C>T	c.(2317-2319)Cga>Tga	p.R773*		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	773					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTGGGGACCTCGATTCAAAAA	0.468																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2317-2319)Cga>Tga		cadherin 6, type 2, K-cadherin (fetal kidney)							83.0	75.0	78.0					5																	31323359		2203	4300	6503	SO:0001587	stop_gained	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31323359C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2317C>T	5.37:g.31323359C>T	ENSP00000265071:p.Arg773*						p.R773*	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			12	2582	+			773					A8K5H5|Q9BWS0	Nonsense_Mutation	SNP	ENST00000265071.2	37	c.2317C>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	42	9.468422	0.99180	.	.	ENSG00000113361	ENST00000265071	.	.	.	5.66	5.66	0.87406	.	0.103351	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1253	0.97977	0.0:1.0:0.0:0.0	.	.	.	.	X	773	.	ENSP00000265071:R773X	R	+	1	2	CDH6	31359116	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.720000	0.61944	2.832000	0.97577	0.655000	0.94253	CGA		0.468	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		57	114	0	0	0	1	0	57	114				
ZNF207	7756	broad.mit.edu	37	17	30685575	30685575	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:30685575C>G	ENST00000321233.6	+	3	376	c.222C>G	c.(220-222)gaC>gaG	p.D74E	ZNF207_ENST00000577908.1_Missense_Mutation_p.D74E|ZNF207_ENST00000341711.6_Intron|ZNF207_ENST00000342555.6_Missense_Mutation_p.D77E|ZNF207_ENST00000394673.2_Missense_Mutation_p.D74E|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394670.4_Missense_Mutation_p.D74E	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	74	Microtubule-binding region.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GAAGAACAGACATAGAGTTGG	0.328																																						ENST00000394670.4																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(220-222)gaC>gaG		zinc finger protein 207							86.0	90.0	89.0					17																	30685575		2203	4299	6502	SO:0001583	missense	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30685575C>G	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.222C>G	17.37:g.30685575C>G	ENSP00000322777:p.Asp74Glu					ZNF207_ENST00000342555.6_Missense_Mutation_p.D77E|ZNF207_ENST00000394673.2_Missense_Mutation_p.D74E|ZNF207_ENST00000321233.6_Missense_Mutation_p.D74E|ZNF207_ENST00000341711.6_Intron|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000577908.1_Missense_Mutation_p.D74E	p.D74E	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		3	391	+		Breast(31;0.116)|Ovarian(249;0.182)	74					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	ENST00000321233.6	37	c.222C>G	CCDS11271.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604026	0.46423	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000342555	T;T;T	0.40756	1.02;1.02;1.02	4.95	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.63861	0.2547	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D	0.61697	0.99;0.99;0.99;0.99;0.99	D;D;D;D;D	0.72625	0.978;0.978;0.978;0.978;0.978	T	0.67608	-0.5627	10	0.56958	D	0.05	.	13.016	0.58757	0.0:0.9215:0.0:0.0785	.	74;77;74;74;74	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	E	74;74;77;74;74	ENSP00000378165:D74E;ENSP00000378168:D74E;ENSP00000322777:D74E	ENSP00000322777:D74E	D	+	3	2	ZNF207	27709688	0.990000	0.36364	1.000000	0.80357	0.973000	0.67179	0.308000	0.19314	2.469000	0.83416	0.650000	0.86243	GAC		0.328	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			11	133	0	0	0	1	0	11	133				
FREM1	158326	broad.mit.edu	37	9	14776092	14776092	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:14776092C>T	ENST00000380880.3	-	25	5335	c.4552G>A	c.(4552-4554)Gcc>Acc	p.A1518T	FREM1_ENST00000380881.4_Missense_Mutation_p.A1519T|FREM1_ENST00000380894.1_Missense_Mutation_p.A54T|FREM1_ENST00000422223.2_Missense_Mutation_p.A1518T|FREM1_ENST00000486223.1_5'Flank			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1518					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCCCCTTGGGCCAGTCTCAAC	0.607																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(4555-4557)Gcc>Acc		FRAS1 related extracellular matrix 1							94.0	105.0	102.0					9																	14776092		1998	4152	6150	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14776092C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4552G>A	9.37:g.14776092C>T	ENSP00000370262:p.Ala1518Thr					FREM1_ENST00000380894.1_Missense_Mutation_p.A54T|FREM1_ENST00000422223.2_Missense_Mutation_p.A1518T|FREM1_ENST00000380880.3_Missense_Mutation_p.A1518T	p.A1519T			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	26	5370	-			1518					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.4555G>A	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	C	8.587	0.883766	0.17467	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.76448	0.99;0.99;-1.02;0.99	6.16	3.01	0.34805	.	0.766293	0.13009	N	0.421019	T	0.56171	0.1967	N	0.16130	0.375	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.12156	0.007;0.005	T	0.39099	-0.9630	10	0.10111	T	0.7	-1.159	6.8555	0.24038	0.2239:0.5901:0.0:0.186	.	1518;54	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	T	1519;1518;54;1518	ENSP00000370263:A1519T;ENSP00000412940:A1518T;ENSP00000370278:A54T;ENSP00000370262:A1518T	ENSP00000370262:A1518T	A	-	1	0	FREM1	14766092	0.115000	0.22152	0.411000	0.26484	0.821000	0.46438	2.023000	0.41040	1.623000	0.50342	0.650000	0.86243	GCC		0.607	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		36	58	0	0	0	1	0	36	58				
C4orf32	132720	broad.mit.edu	37	4	113107862	113107862	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:113107862C>G	ENST00000309733.5	+	2	351	c.167C>G	c.(166-168)tCa>tGa	p.S56*		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	56						integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		GTTGAAGACTCACAGAACCAC	0.358																																						ENST00000309733.4																			0											c.(166-168)tCa>tGa		chromosome 4 open reading frame 32							79.0	76.0	77.0					4																	113107862		2203	4300	6503	SO:0001587	stop_gained	132720					integral to membrane		g.chr4:113107862C>G	AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.167C>G	4.37:g.113107862C>G	ENSP00000310182:p.Ser56*						p.S56*	NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00198)	2	351	+		Ovarian(17;0.156)	56					Q49A91|Q4W5C7|Q8TBF9	Nonsense_Mutation	SNP	ENST00000309733.5	37	c.167C>G	CCDS3695.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990097	0.74589	.	.	ENSG00000174749	ENST00000309733	.	.	.	5.71	4.86	0.63082	.	0.607412	0.17130	N	0.185858	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-0.006	6.8949	0.24251	0.2224:0.6916:0.0:0.086	.	.	.	.	X	56	.	ENSP00000310182:S56X	S	+	2	0	C4orf32	113327311	1.000000	0.71417	0.999000	0.59377	0.497000	0.33675	2.171000	0.42453	2.694000	0.91930	0.585000	0.79938	TCA		0.358	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2	NM_152400		54	101	0	0	0	1	0	54	101				
DENND4B	9909	broad.mit.edu	37	1	153907336	153907336	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:153907336C>G	ENST00000361217.4	-	18	3091	c.2673G>C	c.(2671-2673)ttG>ttC	p.L891F	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	891	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gcCGTTCTCTCAAGGGCTGGC	0.632																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2671-2673)ttG>ttC		DENN/MADD domain containing 4B							59.0	69.0	66.0					1																	153907336		2194	4289	6483	SO:0001583	missense	9909							g.chr1:153907336C>G	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2673G>C	1.37:g.153907336C>G	ENSP00000354597:p.Leu891Phe						p.L891F	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3091	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		891			Gln-rich.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.2673G>C	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131984	0.56828	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.09073	3.02;3.02	5.1	1.85	0.25348	.	0.353866	0.23192	N	0.050887	T	0.04003	0.0112	L	0.27053	0.805	0.22531	N	0.999015	D	0.62365	0.991	P	0.60949	0.881	T	0.33163	-0.9879	10	0.31617	T	0.26	-4.4288	3.9221	0.09248	0.2861:0.4978:0.128:0.0881	.	891	O75064	DEN4B_HUMAN	F	891;902	ENSP00000354597:L891F;ENSP00000357635:L902F	ENSP00000354597:L891F	L	-	3	2	DENND4B	152173960	0.981000	0.34729	0.301000	0.25044	0.986000	0.74619	1.885000	0.39678	0.670000	0.31165	0.462000	0.41574	TTG		0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		6	135	0	0	0	1	0	6	135				
WDR12	55759	broad.mit.edu	37	2	203748997	203748997	+	Silent	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:203748997G>A	ENST00000261015.4	-	10	1661	c.912C>T	c.(910-912)tcC>tcT	p.S304S		NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						GTGGAGAATAGGAAATACAAT	0.373																																						ENST00000261015.3																			0				endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						c.(910-912)tcC>tcT		WD repeat domain 12							71.0	68.0	69.0					2																	203748997		2203	4300	6503	SO:0001819	synonymous_variant	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203748997G>A	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"""WD repeat domain containing"""	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.912C>T	2.37:g.203748997G>A							p.S304S	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN			10	1661	-			304			Sufficient for nucleolar localization.			Silent	SNP	ENST00000261015.4	37	c.912C>T	CCDS2356.1																																																																																				0.373	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		21	55	0	0	0	1	0	21	55				
TRIOBP	11078	broad.mit.edu	37	22	38120035	38120035	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:38120035C>T	ENST00000406386.3	+	7	1727	c.1472C>T	c.(1471-1473)tCt>tTt	p.S491F		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	491					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGAGCCTCCTCTCCCAGTAGA	0.592																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1471-1473)tCt>tTt		TRIO and F-actin binding protein							53.0	50.0	51.0					22																	38120035		1897	4075	5972	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120035C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1472C>T	22.37:g.38120035C>T	ENSP00000384312:p.Ser491Phe					RP1-37E16.12_ENST00000455236.1_RNA	p.S491F	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1727	+	Melanoma(58;0.0574)		491					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.1472C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	-	13.47	2.247069	0.39697	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.21543	2.0	3.22	3.22	0.36961	.	.	.	.	.	T	0.32041	0.0816	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.04053	-1.0981	9	0.52906	T	0.07	.	6.2767	0.20985	0.0:0.8615:0.0:0.1385	.	491	Q9H2D6	TARA_HUMAN	F	491	ENSP00000384312:S491F	ENSP00000384312:S491F	S	+	2	0	TRIOBP	36449981	0.931000	0.31567	0.087000	0.20705	0.216000	0.24613	1.297000	0.33400	1.659000	0.50751	0.289000	0.19496	TCT		0.592	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	193	0	0	0	1	0	6	193				
ST18	9705	broad.mit.edu	37	8	53071619	53071619	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr8:53071619C>G	ENST00000276480.7	-	15	2328	c.1645G>C	c.(1645-1647)Ggc>Cgc	p.G549R		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	549					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GTGTGGGCGCCTGCACTAGGC	0.478																																						ENST00000276480.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1645-1647)Ggc>Cgc		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							86.0	93.0	91.0					8																	53071619		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53071619C>G	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1645G>C	8.37:g.53071619C>G	ENSP00000276480:p.Gly549Arg						p.G549R	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			15	2328	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	549					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1645G>C	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091264	0.55968	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.61040	0.14;0.14	6.07	5.09	0.68999	Myelin transcription factor 1 (1);	0.097739	0.64402	D	0.000001	T	0.61148	0.2324	L	0.47716	1.5	0.45330	D	0.998324	D;P	0.63880	0.993;0.618	P;B	0.62740	0.906;0.248	T	0.60495	-0.7252	10	0.38643	T	0.18	-21.5217	4.8703	0.13629	0.0:0.7889:0.0:0.2111	.	549;549	E5RHS3;O60284	.;ST18_HUMAN	R	549	ENSP00000276480:G549R;ENSP00000428521:G549R	ENSP00000276480:G549R	G	-	1	0	ST18	53234172	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.718000	0.54919	2.890000	0.99128	0.650000	0.86243	GGC		0.478	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			45	51	0	0	0	1	0	45	51				
PCDHGA2	56113	broad.mit.edu	37	5	140718793	140718793	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:140718793C>T	ENST00000394576.2	+	1	255	c.255C>T	c.(253-255)gtC>gtT	p.V85V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	85	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTTGGTCACTGCGAACA	0.552																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(253-255)gtC>gtT									61.0	65.0	64.0					5																	140718793		2203	4300	6503	SO:0001819	synonymous_variant	56113							g.chr5:140718793C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.255C>T	5.37:g.140718793C>T						PCDHGA1_ENST00000517417.1_Intron	p.V85V	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	255	+								Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.255C>T	CCDS47289.1																																																																																				0.552	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		20	100	0	0	0	1	0	20	100				
BTNL8	79908	broad.mit.edu	37	5	180338421	180338421	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:180338421C>T	ENST00000340184.4	+	3	686	c.480C>T	c.(478-480)ttC>ttT	p.F160F	BTNL8_ENST00000231229.4_Silent_p.F160F|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000511704.1_Silent_p.F44F|BTNL8_ENST00000508408.1_Silent_p.F160F|BTNL8_ENST00000533815.2_5'UTR|BTNL8_ENST00000400707.3_Silent_p.F35F|Y_RNA_ENST00000410920.1_RNA	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	160	Ig-like V-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGCTGGTTCCCCCGGCCCA	0.532																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(478-480)ttC>ttT		butyrophilin-like 8							163.0	177.0	173.0					5																	180338421		2203	4296	6499	SO:0001819	synonymous_variant	79908					integral to membrane		g.chr5:180338421C>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.480C>T	5.37:g.180338421C>T						BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000508408.1_Silent_p.F160F|BTNL8_ENST00000400707.3_Silent_p.F35F|BTNL8_ENST00000340184.4_Silent_p.F160F|BTNL8_ENST00000511704.1_Silent_p.F44F|BTNL8_ENST00000533815.2_5'UTR	p.F160F	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	714	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	160			Ig-like V-type 2.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Silent	SNP	ENST00000340184.4	37	c.480C>T	CCDS43413.1																																																																																				0.532	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		159	354	0	0	0	1	0	159	354				
FANCA	2175	broad.mit.edu	37	16	89805657	89805657	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:89805657C>T	ENST00000389301.3	-	41	4081	c.4051G>A	c.(4051-4053)Gag>Aag	p.E1351K	ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.E1351K	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1351					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGGAAGGCCTCTTCCCTGATG	0.527			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(4051-4053)Gag>Aag	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							69.0	59.0	62.0					16																	89805657		2198	4300	6498	SO:0001583	missense	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89805657C>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.4051G>A	16.37:g.89805657C>T	ENSP00000373952:p.Glu1351Lys					ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.E1351K	p.E1351K	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	41	4081	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	1351					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.4051G>A	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611695	0.28712	.	.	ENSG00000187741	ENST00000389301	D	0.84146	-1.81	5.09	1.87	0.25490	.	1.305830	0.04980	N	0.465420	T	0.76111	0.3942	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.26318	0.146;0.146	B;B	0.22152	0.038;0.038	T	0.59674	-0.7410	10	0.21014	T	0.42	-0.8381	7.0478	0.25055	0.0:0.5981:0.2409:0.1609	.	1351;1351	B4DRI7;O15360	.;FANCA_HUMAN	K	1351	ENSP00000373952:E1351K	ENSP00000373952:E1351K	E	-	1	0	FANCA	88333158	0.001000	0.12720	0.001000	0.08648	0.114000	0.19823	0.975000	0.29449	0.665000	0.31066	0.655000	0.94253	GAG		0.527	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			9	47	0	0	0	1	0	9	47				
FRG1B	284802	broad.mit.edu	37	20	29628273	29628273	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr20:29628273A>G	ENST00000278882.3	+	6	655	c.275A>G	c.(274-276)aAt>aGt	p.N92S	FRG1B_ENST00000439954.2_Missense_Mutation_p.N97S|FRG1B_ENST00000358464.4_Missense_Mutation_p.N92S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	92										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTAGATGCAATGAAGCAGGG	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(274-276)aAt>aGt																																						SO:0001583	missense	284802							g.chr20:29628273A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.275A>G	20.37:g.29628273A>G	ENSP00000278882:p.Asn92Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.N97S|FRG1B_ENST00000358464.4_Missense_Mutation_p.N92S	p.N92S							6	655	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.275A>G		.	.	.	.	.	.	.	.	.	.	a	5.285	0.237973	0.10023	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.41400	1.0	2.08	2.08	0.27032	Actin cross-linking (1);	0.091289	0.85682	D	0.000000	T	0.23649	0.0572	.	.	.	0.35235	D	0.777251	B;B	0.12630	0.001;0.006	B;B	0.14578	0.005;0.011	T	0.17319	-1.0373	9	0.16420	T	0.52	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	97;92	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	92;97;92	ENSP00000408863:N97S	ENSP00000278882:N92S	N	+	2	0	FRG1B	28241934	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.067000	0.71193	1.208000	0.43306	0.347000	0.21830	AAT		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	176	0	0	0	1	0	4	176				
HSD17B6	8630	broad.mit.edu	37	12	57167906	57167906	+	Silent	SNP	C	C	T	rs368361992		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:57167906C>T	ENST00000554643.1	+	3	619	c.270C>T	c.(268-270)atC>atT	p.I90I	HSD17B6_ENST00000554150.1_Silent_p.I90I|HSD17B6_ENST00000555159.1_Silent_p.I90I|HSD17B6_ENST00000555805.1_Silent_p.I90I|HSD17B6_ENST00000322165.1_Silent_p.I90I			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	90					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TGGAGAGCATCGCTGCAGCTA	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19127	0.0		0.0	False		,,,				2504	0.0					ENST00000554643.1																			0				endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(268-270)atC>atT		hydroxysteroid (17-beta) dehydrogenase 6	Succinic acid(DB00139)	C		1,4405	2.1+/-5.4	0,1,2202	73.0	75.0	75.0		270	0.8	0.1	12		75	0,8600		0,0,4300	no	coding-synonymous	HSD17B6	NM_003725.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		90/318	57167906	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8630				androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr12:57167906C>T	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	23316	protein-coding gene	gene with protein product	"""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""3(alpha->beta)-hydroxysteroid epimerasel"", ""retinol dehydrogenase"", ""oxidoreductase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""3-hydroxysteroid epimerase"", ""short chain dehydrogenase/reductase family 9C, member 6"""	606623	"""hydroxysteroid (17-beta) dehydrogenase 6"", ""hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"""			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.270C>T	12.37:g.57167906C>T						HSD17B6_ENST00000555805.1_Silent_p.I90I|HSD17B6_ENST00000554150.1_Silent_p.I90I|HSD17B6_ENST00000555159.1_Silent_p.I90I|HSD17B6_ENST00000322165.1_Silent_p.I90I	p.I90I			O14756	H17B6_HUMAN			3	619	+			90					O43275	Silent	SNP	ENST00000554643.1	37	c.270C>T	CCDS8925.1																																																																																				0.512	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410714.1	NM_003725		26	59	0	0	0	1	0	26	59				
AVEN	57099	broad.mit.edu	37	15	34159749	34159749	+	Missense_Mutation	SNP	G	G	A	rs115892491	byFrequency	TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr15:34159749G>A	ENST00000306730.3	-	5	1049	c.920C>T	c.(919-921)aCg>aTg	p.T307M	RP11-3D4.2_ENST00000560268.1_RNA|AVEN_ENST00000558136.1_5'Flank	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	307					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	intracellular (GO:0005622)|membrane (GO:0016020)		p.T307M(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		GTCCTGAGACGTCTGATCTGG	0.433																																						ENST00000306730.3																			1	Substitution - Missense(1)	p.T307M(1)	prostate(1)	cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7						c.(919-921)aCg>aTg		apoptosis, caspase activation inhibitor							135.0	134.0	135.0					15																	34159749		2201	4298	6499	SO:0001583	missense	57099				anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding	g.chr15:34159749G>A	AF283508	CCDS10030.1	15q13.1	2011-10-19		2008-07-07	ENSG00000169857	ENSG00000169857			13509	protein-coding gene	gene with protein product	"""cell death regulator aven"", ""programmed cell death 12"""	605265				10949025	Standard	XM_005254563		Approved	PDCD12	uc001zhj.3	Q9NQS1	OTTHUMG00000129371	ENST00000306730.3:c.920C>T	15.37:g.34159749G>A	ENSP00000306822:p.Thr307Met						p.T307M	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)	5	1049	-		all_lung(180;1.78e-08)	307						Missense_Mutation	SNP	ENST00000306730.3	37	c.920C>T	CCDS10030.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722909	0.30503	.	.	ENSG00000169857	ENST00000306730	T	0.48522	0.81	5.41	2.57	0.30868	.	0.744423	0.13477	N	0.384972	T	0.33323	0.0859	L	0.53249	1.67	0.09310	N	1	P	0.48764	0.915	B	0.31547	0.132	T	0.20974	-1.0259	10	0.49607	T	0.09	-0.6692	6.6586	0.23000	0.4114:0.0:0.5886:0.0	.	307	Q9NQS1	AVEN_HUMAN	M	307	ENSP00000306822:T307M	ENSP00000306822:T307M	T	-	2	0	AVEN	31947041	0.049000	0.20398	0.037000	0.18230	0.315000	0.28087	0.859000	0.27858	0.431000	0.26258	0.561000	0.74099	ACG		0.433	AVEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251523.2	NM_020371		93	103	0	0	0	1	0	93	103				
IYD	389434	broad.mit.edu	37	6	150710600	150710600	+	Silent	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:150710600C>G	ENST00000344419.3	+	2	431	c.291C>G	c.(289-291)ctC>ctG	p.L97L	IYD_ENST00000425615.3_Silent_p.L42L|IYD_ENST00000392255.3_Silent_p.L97L|IYD_ENST00000392256.2_Silent_p.L97L|IYD_ENST00000229447.5_Silent_p.L97L|IYD_ENST00000500320.3_Silent_p.L97L	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	97					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		ATGAACTTCTCAATAAGAGAC	0.408																																						ENST00000344419.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(289-291)ctC>ctG		iodotyrosine deiodinase							123.0	121.0	121.0					6																	150710600		2203	4300	6503	SO:0001819	synonymous_variant	389434				cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane		g.chr6:150710600C>G	AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.291C>G	6.37:g.150710600C>G						IYD_ENST00000229447.5_Silent_p.L97L|IYD_ENST00000392256.2_Silent_p.L97L|IYD_ENST00000425615.3_Silent_p.L42L|IYD_ENST00000500320.3_Silent_p.L97L|IYD_ENST00000392255.3_Silent_p.L97L	p.L97L	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)	2	431	+		Ovarian(120;0.028)	97					C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Silent	SNP	ENST00000344419.3	37	c.291C>G	CCDS5227.1																																																																																				0.408	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043754.3	NM_203395		10	116	0	0	0	1	0	10	116				
NOV	4856	broad.mit.edu	37	8	120430335	120430335	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr8:120430335C>G	ENST00000259526.3	+	3	575	c.348C>G	c.(346-348)atC>atG	p.I116M	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			ATGGGGTCATCTACCGCAGTG	0.488																																						ENST00000259526.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21						c.(346-348)atC>atG		nephroblastoma overexpressed	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						105.0	109.0	107.0					8																	120430335		2203	4300	6503	SO:0001583	missense	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120430335C>G	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.348C>G	8.37:g.120430335C>G	ENSP00000259526:p.Ile116Met						p.I116M	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		3	575	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		116			VWFC.			Missense_Mutation	SNP	ENST00000259526.3	37	c.348C>G	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840044	0.51057	.	.	ENSG00000136999	ENST00000259526	T	0.73047	-0.71	5.51	3.22	0.36961	von Willebrand factor, type C (3);	0.062950	0.64402	D	0.000002	T	0.76652	0.4017	M	0.62266	1.93	0.37582	D	0.919842	D	0.69078	0.997	D	0.68621	0.959	T	0.76044	-0.3103	10	0.51188	T	0.08	-17.1292	4.9585	0.14054	0.0:0.1659:0.1557:0.6783	.	116	P48745	NOV_HUMAN	M	116	ENSP00000259526:I116M	ENSP00000259526:I116M	I	+	3	3	NOV	120499516	0.056000	0.20664	1.000000	0.80357	0.986000	0.74619	-0.677000	0.05215	0.558000	0.29135	-0.367000	0.07326	ATC		0.488	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		19	198	0	0	0	1	0	19	198				
SKP2	6502	broad.mit.edu	37	5	36181987	36181987	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:36181987C>G	ENST00000274255.6	+	10	1325	c.1129C>G	c.(1129-1131)Caa>Gaa	p.Q377E	SKP2_ENST00000508514.1_Missense_Mutation_p.Q170E|SKP2_ENST00000274254.5_Intron|SKP2_ENST00000546211.1_Missense_Mutation_p.Q163E	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	377					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGTACCCTTCAACTGTTAAA	0.413																																						ENST00000274255.6																			0				breast(1)|central_nervous_system(2)|ovary(1)	4						c.(1129-1131)Caa>Gaa		S-phase kinase-associated protein 2, E3 ubiquitin protein ligase							131.0	129.0	130.0					5																	36181987		2203	4300	6503	SO:0001583	missense	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36181987C>G	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.1129C>G	5.37:g.36181987C>G	ENSP00000274255:p.Gln377Glu					SKP2_ENST00000546211.1_Missense_Mutation_p.Q163E|SKP2_ENST00000508514.1_Missense_Mutation_p.Q170E|SKP2_ENST00000274254.5_Intron	p.Q377E	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1325	+	all_lung(31;5.63e-05)		377					A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	c.1129C>G	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	C	7.242	0.601459	0.13939	.	.	ENSG00000145604	ENST00000274255;ENST00000308927;ENST00000508514;ENST00000546211	T;T;T	0.15603	2.41;2.41;2.41	5.91	3.08	0.35506	.	.	.	.	.	T	0.10337	0.0253	L	0.28694	0.88	0.34132	D	0.665424	B;P	0.35411	0.012;0.5	B;B	0.24974	0.001;0.057	T	0.13522	-1.0506	9	0.02654	T	1	.	17.148	0.86771	0.0:0.6449:0.3551:0.0	.	163;377	B4DJT4;Q13309	.;SKP2_HUMAN	E	377;343;170;163	ENSP00000274255:Q377E;ENSP00000421941:Q170E;ENSP00000443492:Q163E	ENSP00000274255:Q377E	Q	+	1	0	SKP2	36217744	0.985000	0.35326	0.988000	0.46212	0.992000	0.81027	1.753000	0.38359	0.353000	0.24079	-0.175000	0.13238	CAA		0.413	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		41	197	0	0	0	1	0	41	197				
SETD4	54093	broad.mit.edu	37	21	37429429	37429429	+	Silent	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr21:37429429G>A	ENST00000399215.1	-	2	1519	c.147C>T	c.(145-147)aaC>aaT	p.N49N	SETD4_ENST00000399201.1_Silent_p.N25N|SETD4_ENST00000399208.2_Silent_p.N49N|SETD4_ENST00000399207.1_Silent_p.N49N|SETD4_ENST00000399212.1_Silent_p.N25N|SETD4_ENST00000399205.1_Silent_p.N25N|SETD4_ENST00000332131.4_Silent_p.N49N|SETD4_ENST00000481477.1_5'UTR			Q9NVD3	SETD4_HUMAN	SET domain containing 4	49	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CAGGCGCTAAGTTTGAATCTT	0.493																																						ENST00000399215.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						c.(145-147)aaC>aaT		SET domain containing 4							144.0	138.0	140.0					21																	37429429		2203	4300	6503	SO:0001819	synonymous_variant	54093							g.chr21:37429429G>A	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.147C>T	21.37:g.37429429G>A						SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399212.1_Silent_p.N25N|SETD4_ENST00000399207.1_Silent_p.N49N|SETD4_ENST00000332131.4_Silent_p.N49N|SETD4_ENST00000399201.1_Silent_p.N25N|SETD4_ENST00000399205.1_Silent_p.N25N|SETD4_ENST00000399208.2_Silent_p.N49N	p.N49N			Q9NVD3	SETD4_HUMAN			2	1519	-			49			SET.		B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Silent	SNP	ENST00000399215.1	37	c.147C>T	CCDS13640.1																																																																																				0.493	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		35	132	0	0	0	1	0	35	132				
TMCO6	55374	broad.mit.edu	37	5	140023221	140023221	+	Silent	SNP	T	T	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:140023221T>C	ENST00000394671.3	+	8	980	c.879T>C	c.(877-879)gcT>gcC	p.A293A	TMCO6_ENST00000252100.6_Silent_p.A299A|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Silent_p.A53A	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	293					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACTTGGCTGGGGCTGTCC	0.537																																						ENST00000394671.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9						c.(877-879)gcT>gcC		transmembrane and coiled-coil domains 6							158.0	160.0	159.0					5																	140023221		1970	4160	6130	SO:0001819	synonymous_variant	55374				protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	g.chr5:140023221T>C	BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.879T>C	5.37:g.140023221T>C						TMCO6_ENST00000252100.6_Silent_p.A299A|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Silent_p.A53A	p.A293A	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	980	+			293					Q9BUU0|Q9P198	Silent	SNP	ENST00000394671.3	37	c.879T>C	CCDS4233.2																																																																																				0.537	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251666.2	NM_018502		83	94	0	0	0	1	0	83	94				
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139090444	139090444	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:139090444G>A	ENST00000354926.4	+	5	775	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	LUC7L2_ENST00000541515.3_Missense_Mutation_p.E207K|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.E140K|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.E138K	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		AGCCAAGGTGGAACAACTAGG	0.363																																						ENST00000354926.4																			0											c.(421-423)Gaa>Aaa									88.0	88.0	88.0					7																	139090444		1846	4094	5940	SO:0001583	missense	100996928							g.chr7:139090444G>A		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.421G>A	7.37:g.139090444G>A	ENSP00000347005:p.Glu141Lys					LUC7L2_ENST00000541515.3_Missense_Mutation_p.E207K|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.E138K|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.E140K	p.E141K	NM_016019.3	NP_057103.2					5	775	+									Missense_Mutation	SNP	ENST00000354926.4	37	c.421G>A	CCDS43656.1	.	.	.	.	.	.	.	.	.	.	G	36	5.933556	0.97122	.	.	ENSG00000146963	ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	T;T;T;T	0.29917	3.44;1.55;3.44;3.44	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	M	0.87180	2.865	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.68047	-0.5512	8	.	.	.	-16.3047	19.2919	0.94103	0.0:0.0:1.0:0.0	.	207;138;140;141	B7Z4Q3;B7Z500;Q9Y383-2;Q9Y383	.;.;.;LC7L2_HUMAN	K	138;207;141;141;140	ENSP00000441604:E138K;ENSP00000440222:E207K;ENSP00000347005:E141K;ENSP00000263545:E140K	.	E	+	1	0	LUC7L2	138740984	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.550000	0.86006	0.591000	0.81541	GAA		0.363	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			10	49	0	0	0	1	0	10	49				
ZNF439	90594	broad.mit.edu	37	19	11979383	11979383	+	Silent	SNP	A	A	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:11979383A>G	ENST00000304030.2	+	3	1699	c.1499A>G	c.(1498-1500)tAa>tGa	p.*500*	ZNF439_ENST00000455282.1_Silent_p.*364*|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	0					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)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AAGACCTTATAAATATAAGAT	0.348																																						ENST00000304030.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						c.(1498-1500)tAa>tGa		zinc finger protein 439							33.0	37.0	35.0					19																	11979383		2194	4299	6493	SO:0001819	synonymous_variant	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11979383A>G	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1499A>G	19.37:g.11979383A>G						ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Silent_p.*364*	p.*500*	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN			3	1699	+			0					Q8IYZ7|Q96SU1	Silent	SNP	ENST00000304030.2	37	c.1499A>G	CCDS12268.1																																																																																				0.348	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			21	85	0	0	0	1	0	21	85				
CTDSPL2	51496	broad.mit.edu	37	15	44776530	44776530	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr15:44776530C>T	ENST00000260327.4	+	3	858	c.295C>T	c.(295-297)Cga>Tga	p.R99*	CTDSPL2_ENST00000396780.1_Nonsense_Mutation_p.R99*|CTDSPL2_ENST00000558966.1_Nonsense_Mutation_p.R99*|CTDSPL2_ENST00000558373.1_Nonsense_Mutation_p.R99*	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	99							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		ACAGATATCTCGAGTAAGACG	0.343																																						ENST00000260327.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13						c.(295-297)Cga>Tga		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2							106.0	95.0	99.0					15																	44776530		2198	4298	6496	SO:0001587	stop_gained	51496						phosphoprotein phosphatase activity	g.chr15:44776530C>T	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.295C>T	15.37:g.44776530C>T	ENSP00000260327:p.Arg99*					CTDSPL2_ENST00000396780.1_Nonsense_Mutation_p.R99*|CTDSPL2_ENST00000558966.1_Nonsense_Mutation_p.R99*|CTDSPL2_ENST00000558373.1_Nonsense_Mutation_p.R99*	p.R99*	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)	3	858	+		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	99					Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Nonsense_Mutation	SNP	ENST00000260327.4	37	c.295C>T	CCDS10110.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051847	0.75960	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6666	19.5282	0.95214	0.0:1.0:0.0:0.0	.	.	.	.	X	99	.	ENSP00000260327:R99X	R	+	1	2	CTDSPL2	42563822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.924000	0.48876	2.681000	0.91329	0.591000	0.81541	CGA		0.343	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253851.1	NM_016396		10	49	0	0	0	1	0	10	49				
DNAH9	1770	broad.mit.edu	37	17	11840769	11840769	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:11840769G>A	ENST00000262442.4	+	66	12658	c.12590G>A	c.(12589-12591)cGc>cAc	p.R4197H	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.R4121H|DNAH9_ENST00000608377.1_Missense_Mutation_p.R509H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4197					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGCTCTTCCGCACTGTGCTG	0.602																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(12589-12591)cGc>cAc		dynein, axonemal, heavy chain 9							84.0	87.0	86.0					17																	11840769		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11840769G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12590G>A	17.37:g.11840769G>A	ENSP00000262442:p.Arg4197His					DNAH9_ENST00000396001.2_Missense_Mutation_p.R509H|DNAH9_ENST00000454412.2_Missense_Mutation_p.R4121H	p.R4197H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	66	12658	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4197					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.12590G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096637	0.36952	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.09350	2.99;2.99;2.99	4.87	0.746	0.18365	Dynein heavy chain (1);	0.398276	0.31347	N	0.007819	T	0.11580	0.0282	L	0.59912	1.85	0.41527	D	0.988434	B	0.26708	0.157	B	0.29524	0.103	T	0.08889	-1.0700	10	0.56958	D	0.05	.	9.0294	0.36249	0.3712:0.0:0.6288:0.0	.	4197	Q9NYC9	DYH9_HUMAN	H	4197;4121;2703;509	ENSP00000262442:R4197H;ENSP00000414874:R4121H;ENSP00000379323:R509H	ENSP00000262442:R4197H	R	+	2	0	DNAH9	11781494	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	2.137000	0.42130	0.361000	0.24292	-0.262000	0.10625	CGC		0.602	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	83	0	0	0	1	0	4	83				
PALB2	79728	broad.mit.edu	37	16	23632776	23632776	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:23632776A>T	ENST00000261584.4	-	10	3172	c.3020T>A	c.(3019-3021)aTg>aAg	p.M1007K	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1007	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CTCAGGGGGCATCAAAAATTG	0.398			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	"""F, N, Mis"""	partner and localizer of BRCA2			"""L, O, E"""		"""Wilms tumor, medulloblastoma, AML ,breast"""			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(3019-3021)aTg>aAg	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							88.0	86.0	87.0					16																	23632776		2197	4300	6497	SO:0001583	missense	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23632776A>T		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.3020T>A	16.37:g.23632776A>T	ENSP00000261584:p.Met1007Lys					CTD-2196E14.3_ENST00000561764.1_RNA	p.M1007K	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	10	3172	-			1007			Interaction with RAD51 and BRCA2.		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.3020T>A	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631962	0.46944	.	.	ENSG00000083093	ENST00000261584	T	0.16743	2.32	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.104769	0.64402	D	0.000004	T	0.40791	0.1131	M	0.73598	2.24	0.45150	D	0.998165	D	0.71674	0.998	D	0.77004	0.989	T	0.31024	-0.9958	10	0.72032	D	0.01	-18.5128	11.9409	0.52901	1.0:0.0:0.0:0.0	.	1007	Q86YC2	PALB2_HUMAN	K	1007	ENSP00000261584:M1007K	ENSP00000261584:M1007K	M	-	2	0	PALB2	23540277	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	3.520000	0.53465	2.127000	0.65507	0.374000	0.22700	ATG		0.398	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		4	123	0	0	0	1	0	4	123				
ZMYM1	79830	broad.mit.edu	37	1	35559686	35559686	+	Splice_Site	SNP	T	T	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:35559686T>G	ENST00000373330.1	+	3	270		c.e3+2		ZMYM1_ENST00000359858.4_Splice_Site|ZMYM1_ENST00000373329.1_Intron			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1							nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATGCTCAAGTAAATATTTTC	0.358																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.e3+2		zinc finger, MYM-type 1							71.0	72.0	71.0					1																	35559686		1848	4101	5949	SO:0001630	splice_region_variant	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35559686T>G	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.96+2T>G	1.37:g.35559686T>G						ZMYM1_ENST00000359858.4_Splice_Site|ZMYM1_ENST00000373329.1_Intron				Q5SVZ6	ZMYM1_HUMAN			3	270	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)						D3DPR7|Q7Z3Q4	Splice_Site	SNP	ENST00000373330.1	37		CCDS41302.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.208704	0.39003	.	.	ENSG00000197056	ENST00000417119;ENST00000359858;ENST00000373330	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9032	0.63819	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZMYM1	35332273	1.000000	0.71417	1.000000	0.80357	0.378000	0.30076	4.872000	0.63050	2.263000	0.75096	0.533000	0.62120	.		0.358	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772	Intron	7	47	0	0	0	1	0	7	47				
KCNT2	343450	broad.mit.edu	37	1	196367733	196367733	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:196367733C>G	ENST00000294725.9	-	13	2169	c.1254G>C	c.(1252-1254)caG>caC	p.Q418H	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.Q418H|KCNT2_ENST00000451324.2_Missense_Mutation_p.Q29H|KCNT2_ENST00000609185.1_Missense_Mutation_p.Q418H|KCNT2_ENST00000367433.5_Missense_Mutation_p.Q418H			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	418					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTTTAATATCTGGACATACA	0.338																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(1252-1254)caG>caC		potassium channel, subfamily T, member 2							67.0	69.0	68.0					1																	196367733		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196367733C>G	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1254G>C	1.37:g.196367733C>G	ENSP00000294725:p.Gln418His					KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Missense_Mutation_p.Q29H|KCNT2_ENST00000294725.8_Missense_Mutation_p.Q418H|KCNT2_ENST00000367431.4_Missense_Mutation_p.Q418H	p.Q418H			Q6UVM3	KCNT2_HUMAN			13	1355	-			418					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.1254G>C	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946519	0.53186	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.69926	-0.44;-0.44;0.89;-0.44	5.61	3.73	0.42828	NAD(P)-binding domain (1);	0.000000	0.56097	D	0.000037	T	0.77398	0.4124	M	0.74467	2.265	0.54753	D	0.999986	D;D;P;D	0.58268	0.969;0.982;0.936;0.969	P;P;P;P	0.62298	0.846;0.9;0.535;0.846	T	0.78989	-0.1986	10	0.56958	D	0.05	-12.5135	11.1124	0.48241	0.0:0.7937:0.0:0.2063	.	418;418;418;418	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	H	418;418;239;29;418	ENSP00000356403:Q418H;ENSP00000356401:Q418H;ENSP00000405474:Q29H;ENSP00000294725:Q418H	ENSP00000294725:Q418H	Q	-	3	2	KCNT2	194634356	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.159000	0.31749	1.363000	0.46019	0.585000	0.79938	CAG		0.338	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		9	66	0	0	0	1	0	9	66				
RGL2	5863	broad.mit.edu	37	6	33264023	33264023	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:33264023G>A	ENST00000497454.1	-	6	1045	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	RGL2_ENST00000444031.2_Missense_Mutation_p.R102W|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	184	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CTCTCAAGCCGGTCAAGCTGA	0.602																																						ENST00000497454.1																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(550-552)Cgg>Tgg		ral guanine nucleotide dissociation stimulator-like 2							100.0	108.0	105.0					6																	33264023		2203	4300	6503	SO:0001583	missense	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33264023G>A		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.550C>T	6.37:g.33264023G>A	ENSP00000420211:p.Arg184Trp					RGL2_ENST00000444031.2_Missense_Mutation_p.R102W|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	p.R184W	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN			6	1045	-			184			N-terminal Ras-GEF.		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	c.550C>T	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345984	0.61073	.	.	ENSG00000237441	ENST00000497454;ENST00000421215;ENST00000444031	T;T	0.52057	0.68;0.68	4.88	4.88	0.63580	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.683655	0.14496	N	0.316020	T	0.63212	0.2492	M	0.78456	2.415	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.65849	-0.6068	10	0.87932	D	0	.	13.4	0.60876	0.0:0.0:1.0:0.0	.	102;184	B4DG72;O15211	.;RGL2_HUMAN	W	184;48;102	ENSP00000420211:R184W;ENSP00000403070:R102W	ENSP00000400083:R48W	R	-	1	2	RGL2	33372001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.587000	0.46128	2.512000	0.84698	0.643000	0.83706	CGG		0.602	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			6	233	0	0	0	1	0	6	233				
SPINK2	6691	broad.mit.edu	37	4	57686742	57686742	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:57686742G>C	ENST00000248701.4	-	2	138	c.59C>G	c.(58-60)tCt>tGt	p.S20C	SPINK2_ENST00000506738.1_Missense_Mutation_p.S70C|Y_RNA_ENST00000515990.1_RNA|SPINK2_ENST00000504762.1_Missense_Mutation_p.S55C	NM_021114.2	NP_066937.1	P20155	ISK2_HUMAN	serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)	20					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(1)|lung(2)	4	Glioma(25;0.08)|all_neural(26;0.181)					AGGGATCAGAGAGGCTGTAAG	0.348																																						ENST00000506738.1																			0				kidney(1)|large_intestine(1)|lung(2)	4						c.(208-210)tCt>tGt		serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)							98.0	108.0	105.0					4																	57686742		2203	4300	6503	SO:0001583	missense	6691					extracellular region	serine-type endopeptidase inhibitor activity	g.chr4:57686742G>C	BC022514	CCDS3508.1, CCDS63971.1, CCDS63972.1, CCDS75128.1	4q12	2011-08-31	2005-08-17		ENSG00000128040	ENSG00000128040		"""Serine peptidase inhibitors, Kazal type"""	11245	protein-coding gene	gene with protein product		605753	"""serine protease inhibitor, Kazal type 2 (acrosin-trypsin inhibitor)"""			8428671	Standard	NM_001271718		Approved	HUSI-II	uc031sep.1	P20155	OTTHUMG00000128769	ENST00000248701.4:c.59C>G	4.37:g.57686742G>C	ENSP00000248701:p.Ser20Cys					SPINK2_ENST00000504762.1_Missense_Mutation_p.S55C|SPINK2_ENST00000248701.4_Missense_Mutation_p.S20C	p.S70C	NM_001271718.1	NP_001258647.1	P20155	ISK2_HUMAN			2	288	-	Glioma(25;0.08)|all_neural(26;0.181)		20			Kazal-like.		Q6FGH2	Missense_Mutation	SNP	ENST00000248701.4	37	c.209C>G	CCDS3508.1	.	.	.	.	.	.	.	.	.	.	G	9.274	1.046433	0.19748	.	.	ENSG00000128040	ENST00000248701;ENST00000506738;ENST00000504762	T;T;T	0.79352	-1.08;-1.26;-1.24	3.27	2.42	0.29668	.	.	.	.	.	T	0.75324	0.3834	.	.	.	0.09310	N	1	D	0.63046	0.992	P	0.51355	0.667	T	0.62742	-0.6790	8	0.38643	T	0.18	-49.3661	6.1752	0.20439	0.1385:0.0:0.8615:0.0	.	20	P20155	ISK2_HUMAN	C	20;70;55	ENSP00000248701:S20C;ENSP00000425961:S70C;ENSP00000423858:S55C	ENSP00000248701:S20C	S	-	2	0	SPINK2	57381499	0.002000	0.14202	0.004000	0.12327	0.001000	0.01503	0.883000	0.28200	0.960000	0.38005	0.442000	0.29010	TCT		0.348	SPINK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250690.2	NM_021114		11	58	0	0	0	1	0	11	58				
PSEN2	5664	broad.mit.edu	37	1	227079502	227079502	+	Silent	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:227079502C>G	ENST00000366783.3	+	11	1465	c.1029C>G	c.(1027-1029)ccC>ccG	p.P343P	PSEN2_ENST00000422240.2_Silent_p.P342P|PSEN2_ENST00000471728.1_3'UTR|PSEN2_ENST00000366782.1_Silent_p.P376P|PSEN2_ENST00000391872.2_Silent_p.P376P|PSEN2_ENST00000472139.2_Silent_p.P199P|PSEN2_ENST00000340188.4_Silent_p.P310P	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	343					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				TTGAGCCTCCCTTGACTGGCT	0.572																																						ENST00000366782.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20						c.(1126-1128)ccC>ccG		presenilin 2 (Alzheimer disease 4)							80.0	79.0	79.0					1																	227079502		2203	4300	6503	SO:0001819	synonymous_variant	5664				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding	g.chr1:227079502C>G	BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"""Alzheimer disease 4"""	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.1029C>G	1.37:g.227079502C>G						PSEN2_ENST00000472139.2_Silent_p.P199P|PSEN2_ENST00000366783.3_Silent_p.P343P|PSEN2_ENST00000340188.4_Silent_p.P310P|PSEN2_ENST00000422240.2_Silent_p.P342P|PSEN2_ENST00000391872.2_Silent_p.P376P|PSEN2_ENST00000471728.1_3'UTR	p.P376P			P49810	PSN2_HUMAN			11	1628	+		Prostate(94;0.0771)	343					A8K8D4|B1AP21|Q96P32	Silent	SNP	ENST00000366783.3	37	c.1128C>G	CCDS1556.1																																																																																				0.572	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		31	63	0	0	0	1	0	31	63				
APOB	338	broad.mit.edu	37	2	21232377	21232377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:21232377G>A	ENST00000233242.1	-	26	7490	c.7363C>T	c.(7363-7365)Cag>Tag	p.Q2455*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2455					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGAGCCTGAATTTCACCA	0.398																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(7363-7365)Cag>Tag		apolipoprotein B	Atorvastatin(DB01076)						146.0	144.0	145.0					2																	21232377		2203	4300	6503	SO:0001587	stop_gained	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21232377G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7363C>T	2.37:g.21232377G>A	ENSP00000233242:p.Gln2455*						p.Q2455*	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	7490	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2455					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.7363C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	46	12.186963	0.99644	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.14	3.21	0.36854	.	0.630912	0.14102	N	0.341329	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	6.6609	0.23014	0.0909:0.0:0.5617:0.3474	.	.	.	.	X	2455	.	ENSP00000233242:Q2455X	Q	-	1	0	APOB	21085882	0.992000	0.36948	0.159000	0.22649	0.518000	0.34316	2.054000	0.41335	1.157000	0.42530	0.462000	0.41574	CAG		0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			50	234	0	0	0	1	0	50	234				
IGKV3-20	28912	broad.mit.edu	37	2	89442331	89442331	+	RNA	SNP	G	G	A	rs548180684		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:89442331G>A	ENST00000492167.1	-	0	125									immunoglobulin kappa variable 3-20																		TGGAGACTGCGTCAACACAAT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		13615	0.0		0.0	False		,,,				2504	0.001					ENST00000492167.1																			0																				93.0	92.0	93.0					2																	89442331		2002	4185	6187			28912							g.chr2:89442331G>A	X12686		2p11.2	2012-02-08			ENSG00000239951	ENSG00000239951		"""Immunoglobulins / IGK locus"""	5817	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151639		2.37:g.89442331G>A														0	125	-									RNA	SNP	ENST00000492167.1	37																																																																																						0.493	IGKV3-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323388.1	NG_000834		41	96	0	0	0	1	0	41	96				
IL4R	3566	broad.mit.edu	37	16	27373640	27373640	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:27373640G>A	ENST00000395762.2	+	11	1226	c.967G>A	c.(967-969)Gat>Aat	p.D323N	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Missense_Mutation_p.D308N|IL4R_ENST00000170630.2_Missense_Mutation_p.D323N|IL4R_ENST00000543915.2_Missense_Mutation_p.D323N	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	323					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AAGGGATGAAGATCCTCACAA	0.493																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(967-969)Gat>Aat		interleukin 4 receptor							98.0	103.0	102.0					16																	27373640		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27373640G>A	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.967G>A	16.37:g.27373640G>A	ENSP00000379111:p.Asp323Asn					IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_Missense_Mutation_p.D323N|IL4R_ENST00000543915.2_Missense_Mutation_p.D323N|IL4R_ENST00000380922.3_Missense_Mutation_p.D308N	p.D323N	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			11	1226	+			323					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.967G>A	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626198	0.28978	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	4.8	2.83	0.33086	.	0.873702	0.09433	N	0.802819	T	0.10208	0.0250	L	0.43152	1.355	0.09310	N	1	B;B;B	0.26744	0.158;0.158;0.158	B;B;B	0.25140	0.058;0.034;0.034	T	0.29181	-1.0020	10	0.42905	T	0.14	-26.6028	6.6194	0.22794	0.2123:0.0:0.7877:0.0	.	308;323;323	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	N	323;323;308;323	ENSP00000379111:D323N;ENSP00000441667:D323N;ENSP00000370309:D308N;ENSP00000170630:D323N	ENSP00000170630:D323N	D	+	1	0	IL4R	27281141	0.009000	0.17119	0.003000	0.11579	0.022000	0.10575	1.334000	0.33827	1.017000	0.39495	0.655000	0.94253	GAT		0.493	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			29	122	0	0	0	1	0	29	122				
TNN	63923	broad.mit.edu	37	1	175105985	175105985	+	Silent	SNP	C	C	T	rs144928544	byFrequency	TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:175105985C>T	ENST00000239462.4	+	17	3569	c.3456C>T	c.(3454-3456)acC>acT	p.T1152T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1152	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACCTCACCACCGGCACTCCAG	0.453													C|||	22	0.00439297	0.0159	0.0014	5008	,	,		20035	0.0		0.0	False		,,,				2504	0.0					ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3454-3456)acC>acT		tenascin N		C		44,4362	47.5+/-82.1	0,44,2159	80.0	74.0	76.0		3456	-10.3	0.1	1	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous	TNN	NM_022093.1		0,44,6459	TT,TC,CC		0.0,0.9986,0.3383		1152/1300	175105985	44,12962	2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175105985C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3456C>T	1.37:g.175105985C>T							p.T1152T	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	17	3569	+		Breast(1374;0.000962)	1152			Fibrinogen C-terminal.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.3456C>T	CCDS30943.1																																																																																				0.453	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		11	91	0	0	0	1	0	11	91				
ZIK1	284307	broad.mit.edu	37	19	58102053	58102053	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:58102053G>A	ENST00000597850.1	+	4	1089	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.E279K|ZIK1_ENST00000599456.1_Missense_Mutation_p.E237K	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCACACCGGAGAAAGGCCTTA	0.458																																						ENST00000597850.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(874-876)Gaa>Aaa		zinc finger protein interacting with K protein 1							60.0	62.0	62.0					19																	58102053		2203	4300	6503	SO:0001583	missense	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58102053G>A	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.874G>A	19.37:g.58102053G>A	ENSP00000472867:p.Glu292Lys					ZIK1_ENST00000536878.2_Missense_Mutation_p.E279K|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.E237K	p.E292K	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1089	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	292					O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	c.874G>A	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796156	0.31777	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.24350	1.86	3.06	0.848	0.18966	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34919	0.0914	L	0.33293	1	0.31058	N	0.714479	D;D	0.89917	0.995;1.0	D;D	0.87578	0.988;0.998	T	0.33497	-0.9866	9	0.66056	D	0.02	.	7.904	0.29750	0.2194:0.0:0.7806:0.0	.	279;292	F5H435;Q3SY52	.;ZIK1_HUMAN	K	279;273;292	ENSP00000438487:E279K	ENSP00000303820:E292K	E	+	1	0	ZIK1	62793865	0.900000	0.30661	0.002000	0.10522	0.085000	0.17905	4.809000	0.62591	0.163000	0.19507	-0.214000	0.12660	GAA		0.458	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		22	113	0	0	0	1	0	22	113				
PNISR	25957	broad.mit.edu	37	6	99856100	99856100	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:99856100C>G	ENST00000369239.5	-	7	925	c.721G>C	c.(721-723)Gaa>Caa	p.E241Q	PNISR_ENST00000438806.1_Missense_Mutation_p.E241Q	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	241						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TCCATTTTTTCAAGACCTTCG	0.388																																						ENST00000369239.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(721-723)Gaa>Caa		PNN-interacting serine/arginine-rich protein							100.0	92.0	95.0					6																	99856100		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99856100C>G	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.721G>C	6.37:g.99856100C>G	ENSP00000358242:p.Glu241Gln					PNISR_ENST00000438806.1_Missense_Mutation_p.E241Q	p.E241Q	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN			7	925	-			241					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.721G>C	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	C	35	5.526132	0.96431	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.47177	0.85;0.85	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.70037	0.3178	M	0.83483	2.645	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.72014	-0.4418	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	241	Q8TF01	PNISR_HUMAN	Q	241	ENSP00000358242:E241Q;ENSP00000387997:E241Q	ENSP00000358242:E241Q	E	-	1	0	PNISR	99962821	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GAA		0.388	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		33	131	0	0	0	1	0	33	131				
PHKG1	5260	broad.mit.edu	37	7	56145842	56145842	+	IGR	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:56145842C>T	ENST00000297373.2	-	0	1431				SUMF2_ENST00000395435.2_Silent_p.V148V|SUMF2_ENST00000275607.9_Silent_p.V125V|SUMF2_ENST00000395436.2_Silent_p.V217V|SUMF2_ENST00000437307.2_Silent_p.V144V|SUMF2_ENST00000413756.1_Silent_p.V213V|SUMF2_ENST00000342190.6_Silent_p.V232V|SUMF2_ENST00000434526.2_Silent_p.V232V	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCCATGGAGTCTCCCCAGTGA	0.542																																					Melanoma(184;580 2064 5329 24177 35303)	ENST00000434526.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14						c.(694-696)gtC>gtT		sulfatase modifying factor 2							137.0	115.0	123.0					7																	56145842		2203	4300	6503	SO:0001628	intergenic_variant	25870					endoplasmic reticulum lumen	metal ion binding	g.chr7:56145842C>T	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869		7.37:g.56145842C>T						SUMF2_ENST00000275607.9_Silent_p.V125V|SUMF2_ENST00000437307.2_Silent_p.V144V|SUMF2_ENST00000413756.1_Silent_p.V213V|SUMF2_ENST00000395435.2_Silent_p.V148V|SUMF2_ENST00000395436.2_Silent_p.V217V|SUMF2_ENST00000342190.6_Silent_p.V232V	p.V232V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		7	727	+	Breast(14;0.214)		213					B7Z1D0|F5H2S1|Q75LP5	Silent	SNP	ENST00000297373.2	37	c.696C>T	CCDS5525.1																																																																																				0.542	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		12	185	0	0	0	1	0	12	185				
DEPDC5	9681	broad.mit.edu	37	22	32302245	32302245	+	Missense_Mutation	SNP	G	G	A	rs370366925		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:32302245G>A	ENST00000382112.3	+	42	4617	c.4547G>A	c.(4546-4548)cGg>cAg	p.R1516Q	DEPDC5_ENST00000400246.1_Missense_Mutation_p.G1505S|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R1494Q|DEPDC5_ENST00000539165.1_Missense_Mutation_p.R342Q|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R1503Q|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1494Q|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1425Q|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G1505S	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1525					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.R1494Q(1)|p.R1425Q(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGGCAGCAGCGGCGGCGGCGG	0.607																																						ENST00000400246.1																			2	Substitution - Missense(2)	p.R1494Q(1)|p.R1425Q(1)	endometrium(2)	breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(4513-4515)Ggc>Agc		DEP domain containing 5		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,3897		0,1,1948	31.0	36.0	34.0		4547,4574,4274,4481	4.0	1.0	22		34	0,8270		0,0,4135	no	missense,missense,missense,missense	DEPDC5	NM_001136029.2,NM_001242896.1,NM_001242897.1,NM_014662.3	43,43,43,43	0,1,6083	AA,AG,GG		0.0,0.0257,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1516/1595,1525/1604,1425/1504,1494/1573	32302245	1,12167	1949	4135	6084	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32302245G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.4547G>A	22.37:g.32302245G>A	ENSP00000371546:p.Arg1516Gln					DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1425Q|DEPDC5_ENST00000539165.1_Missense_Mutation_p.R342Q|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R1494Q|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1494Q|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R1516Q|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G1505S|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R1503Q	p.G1505S			O75140	DEPD5_HUMAN			42	4655	+			0					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.4513G>A	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.511871|4.511871	0.85389|0.85389	2.57E-4|2.57E-4	0.0|0.0	ENSG00000100150|ENSG00000100150	ENST00000400246;ENST00000382111|ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000382112;ENST00000400248;ENST00000539165	T;T|T;T;T;T;T	0.21191|0.32023	2.02;2.02|1.47;1.9;1.9;1.91;1.9	4.99|4.99	3.96|3.96	0.45880|0.45880	.|.	.|0.091579	.|0.44483	.|D	.|0.000449	T|T	0.45756|0.45756	0.1358|0.1358	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D;D	.|0.76494	.|0.999;0.998;0.998;0.999;0.997	.|D;D;D;D;D	.|0.75484	.|0.978;0.945;0.986;0.978;0.968	T|T	0.24119|0.24119	-1.0169|-1.0169	7|10	0.87932|0.25106	D|T	0|0.35	.|.	14.0559|14.0559	0.64769|0.64769	0.0:0.0:0.8478:0.1522|0.0:0.0:0.8478:0.1522	.|.	.|1525;1425;1503;1516;1494	.|B9EGN9;B4DH93;O75140-4;A8MPX9;O75140	.|.;.;.;.;DEPD5_HUMAN	S|Q	1505|1425;1503;1494;1425;1516;1494;342	ENSP00000383105:G1505S;ENSP00000371545:G1505S|ENSP00000440210:R1425Q;ENSP00000266091:R1503Q;ENSP00000383108:R1494Q;ENSP00000371546:R1516Q;ENSP00000383107:R1494Q	ENSP00000371545:G1505S|ENSP00000266091:R1503Q	G|R	+|+	1|2	0|0	DEPDC5|DEPDC5	30632245|30632245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.191000|9.191000	0.94940|0.94940	1.225000|1.225000	0.43566|0.43566	0.462000|0.462000	0.41574|0.41574	GGC|CGG		0.607	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		4	84	0	0	0	1	0	4	84				
MTERF3	51001	broad.mit.edu	37	8	97270868	97270868	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr8:97270868C>G	ENST00000287025.3	-	2	149	c.51G>C	c.(49-51)ttG>ttC	p.L17F	MTERFD1_ENST00000523821.1_Missense_Mutation_p.L17F|MTERFD1_ENST00000522822.1_5'Flank|MTERFD1_ENST00000524341.1_5'Flank	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		17					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TGAGGCTCCTCAACTTAACTG	0.398																																						ENST00000523821.1																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(49-51)ttG>ttC		MTERF domain containing 1							131.0	131.0	131.0					8																	97270868		2203	4300	6503	SO:0001583	missense	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97270868C>G																												ENST00000287025.3:c.51G>C	8.37:g.97270868C>G	ENSP00000287025:p.Leu17Phe					MTERFD1_ENST00000287025.3_Missense_Mutation_p.L17F	p.L17F			Q96E29	MTER1_HUMAN			2	170	-	Breast(36;5.16e-05)		17					B3KMG6|G3V130|Q9Y301	Missense_Mutation	SNP	ENST00000287025.3	37	c.51G>C	CCDS6270.1	.	.	.	.	.	.	.	.	.	.	C	4.395	0.072913	0.08436	.	.	ENSG00000156469	ENST00000523821;ENST00000287025;ENST00000517720	T;T;T	0.65549	-0.16;-0.16;-0.16	5.78	2.6	0.31112	.	1.390120	0.04452	N	0.372813	T	0.51568	0.1682	L	0.32530	0.975	0.09310	N	1	P;B	0.37015	0.578;0.435	B;B	0.36289	0.221;0.172	T	0.46048	-0.9219	10	0.49607	T	0.09	-5.5756	5.7858	0.18333	0.1596:0.6587:0.0:0.1817	.	17;17	E5RIK9;Q96E29	.;MTER1_HUMAN	F	17	ENSP00000429400:L17F;ENSP00000287025:L17F;ENSP00000429526:L17F	ENSP00000287025:L17F	L	-	3	2	MTERFD1	97340044	0.001000	0.12720	0.002000	0.10522	0.018000	0.09664	0.055000	0.14229	0.795000	0.33922	-0.840000	0.03056	TTG		0.398	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1			44	258	0	0	0	1	0	44	258				
FLG	2312	broad.mit.edu	37	1	152282048	152282048	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:152282048G>C	ENST00000368799.1	-	3	5349	c.5314C>G	c.(5314-5316)Cat>Gat	p.H1772D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1772	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGTTCATGAGTGCTCACC	0.612									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5314-5316)Cat>Gat		filaggrin							206.0	213.0	210.0					1																	152282048		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282048G>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5314C>G	1.37:g.152282048G>C	ENSP00000357789:p.His1772Asp					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.H1772D	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5349	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1772			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5314C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	7.032	0.560728	0.13498	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01629	4.72	4.62	0.229	0.15368	.	.	.	.	.	T	0.03305	0.0096	M	0.83483	2.645	0.09310	N	1	P	0.50156	0.932	P	0.61397	0.888	T	0.21690	-1.0238	9	0.59425	D	0.04	.	8.3705	0.32412	0.0917:0.4484:0.46:0.0	.	1772	P20930	FILA_HUMAN	D	1772;7	ENSP00000357789:H1772D	ENSP00000271820:H7D	H	-	1	0	FLG	150548672	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.041000	0.13927	0.097000	0.17492	0.558000	0.71614	CAT		0.612	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		63	434	0	0	0	1	0	63	434				
TSPAN31	6302	broad.mit.edu	37	12	58140501	58140501	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:58140501G>T	ENST00000257910.3	+	4	716	c.442G>T	c.(442-444)Gca>Tca	p.A148S	TSPAN31_ENST00000547472.1_Missense_Mutation_p.A65S|CDK4_ENST00000551888.1_5'Flank|TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000547992.1_Intron	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31	148					positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TTTCTGCACTGCAGTGAGTGT	0.448																																						ENST00000257910.3																			0				endometrium(1)|kidney(1)|lung(5)	7						c.(442-444)Gca>Tca		tetraspanin 31							76.0	75.0	75.0					12																	58140501		2203	4300	6503	SO:0001583	missense	6302				positive regulation of cell proliferation	integral to plasma membrane|membrane fraction		g.chr12:58140501G>T		CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"""Tetraspanins"""	10539	protein-coding gene	gene with protein product		181035	"""sarcoma amplified sequence"""	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999		ENST00000257910.3:c.442G>T	12.37:g.58140501G>T	ENSP00000257910:p.Ala148Ser					TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000547992.1_Intron|TSPAN31_ENST00000547472.1_Missense_Mutation_p.A65S	p.A148S	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	716	+	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		148					O00577|Q53X76	Missense_Mutation	SNP	ENST00000257910.3	37	c.442G>T	CCDS8952.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004645	0.35320	.	.	ENSG00000135452	ENST00000257910;ENST00000552816;ENST00000547472;ENST00000548167	T;T;D	0.84944	-1.16;-1.16;-1.92	5.04	5.04	0.67666	.	0.280952	0.34603	N	0.003826	D	0.83991	0.5374	N	0.19112	0.55	0.51767	D	0.999937	D	0.69078	0.997	D	0.79108	0.992	T	0.77368	-0.2614	10	0.02654	T	1	-9.087	15.8032	0.78471	0.0:0.0:1.0:0.0	.	148	Q12999	TSN31_HUMAN	S	148;70;65;70	ENSP00000257910:A148S;ENSP00000449199:A65S;ENSP00000449131:A70S	ENSP00000257910:A148S	A	+	1	0	TSPAN31	56426768	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	5.834000	0.69361	2.788000	0.95919	0.650000	0.86243	GCA		0.448	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408778.1			12	61	1	0	0.00136819	1	0.00139296	12	61				
OR5K3	403277	broad.mit.edu	37	3	98109749	98109749	+	Silent	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:98109749G>A	ENST00000383695.1	+	1	240	c.240G>A	c.(238-240)aaG>aaA	p.K80K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TTACTCCCAAGATGTTAGAGA	0.378																																						ENST00000383695.1																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(238-240)aaG>aaA		olfactory receptor, family 5, subfamily K, member 3							264.0	262.0	263.0					3																	98109749		2203	4300	6503	SO:0001819	synonymous_variant	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109749G>A		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.240G>A	3.37:g.98109749G>A						RP11-325B23.2_ENST00000508616.1_lincRNA	p.K80K	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN			1	240	+			80						Silent	SNP	ENST00000383695.1	37	c.240G>A	CCDS33803.1																																																																																				0.378	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			63	463	0	0	0	1	0	63	463				
AMER3	205147	broad.mit.edu	37	2	131520235	131520235	+	Missense_Mutation	SNP	G	G	A	rs369274817		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:131520235G>A	ENST00000423981.1	+	2	700	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	AMER3_ENST00000321420.4_Missense_Mutation_p.R197Q	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	197					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R197Q(2)									GGGGGGCGGCGAAGCAAAGCC	0.672																																						ENST00000423981.1																			2	Substitution - Missense(2)	p.R197Q(2)	skin(1)|pancreas(1)								c.(589-591)cGa>cAa		APC membrane recruitment protein 3		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4398		0,0,2199	25.0	31.0	29.0		590,590,590,590	-10.4	0.0	2		29	1,8575		0,1,4287	no	missense,missense,missense,missense	FAM123C	NM_152698.2,NM_001105195.1,NM_001105194.1,NM_001105193.1	43,43,43,43	0,1,6486	AA,AG,GG		0.0117,0.0,0.0077	benign,benign,benign,benign	197/862,197/862,197/862,197/862	131520235	1,12973	2199	4288	6487	SO:0001583	missense	205147							g.chr2:131520235G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.590G>A	2.37:g.131520235G>A	ENSP00000392700:p.Arg197Gln					AMER3_ENST00000321420.4_Missense_Mutation_p.R197Q	p.R197Q	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	700	+								B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.590G>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	1.817	-0.473210	0.04445	0.0	1.17E-4	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.40756	1.02;1.02	5.21	-10.4	0.00318	.	1.133320	0.06645	N	0.761843	T	0.12518	0.0304	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07829	-1.0752	10	0.10111	T	0.7	.	2.9658	0.05907	0.3591:0.3448:0.1972:0.0989	.	197	Q8N944	F123C_HUMAN	Q	197	ENSP00000314914:R197Q;ENSP00000392700:R197Q	ENSP00000314914:R197Q	R	+	2	0	FAM123C	131236705	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.967000	0.03821	-3.290000	0.00195	-1.134000	0.01955	CGA		0.672	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		8	79	0	0	0	1	0	8	79				
MARK4	57787	broad.mit.edu	37	19	45767945	45767945	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:45767945A>T	ENST00000262891.4	+	5	690	c.359A>T	c.(358-360)aAg>aTg	p.K120M	MARK4_ENST00000300843.4_Missense_Mutation_p.K120M	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	120	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATTATAGTGAAGCTCTTTGAG	0.547																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(358-360)aAg>aTg		MAP/microtubule affinity-regulating kinase 4							146.0	128.0	134.0					19																	45767945		2203	4300	6503	SO:0001583	missense	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45767945A>T	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.359A>T	19.37:g.45767945A>T	ENSP00000262891:p.Lys120Met					MARK4_ENST00000262891.4_Missense_Mutation_p.K120M	p.K120M	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	5	656	+		all_neural(266;0.224)|Ovarian(192;0.231)	120			Protein kinase.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	c.359A>T	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.339592	0.60963	.	.	ENSG00000007047	ENST00000262893;ENST00000262891;ENST00000300843	T;T	0.27557	1.66;1.66	3.82	3.82	0.43975	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.159627	0.40554	N	0.001074	T	0.45196	0.1330	M	0.75085	2.285	0.53688	D	0.999973	P;P	0.43024	0.749;0.798	P;B	0.51324	0.666;0.351	T	0.49826	-0.8898	10	0.87932	D	0	.	10.8729	0.46894	1.0:0.0:0.0:0.0	.	120;120	Q96L34;Q96L34-2	MARK4_HUMAN;.	M	120	ENSP00000262891:K120M;ENSP00000300843:K120M	ENSP00000262891:K120M	K	+	2	0	MARK4	50459785	1.000000	0.71417	1.000000	0.80357	0.518000	0.34316	8.953000	0.93041	1.741000	0.51731	0.459000	0.35465	AAG		0.547	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		63	170	0	0	0	1	0	63	170				
GZF1	64412	broad.mit.edu	37	20	23346091	23346091	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr20:23346091C>T	ENST00000338121.5	+	2	1148	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	GZF1_ENST00000377051.2_Silent_p.F357F|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_3'UTR			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	357					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GCCAGACCTTCGCCAACCGCT	0.622																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(1069-1071)ttC>ttT		GDNF-inducible zinc finger protein 1							51.0	53.0	52.0					20																	23346091		2202	4299	6501	SO:0001819	synonymous_variant	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23346091C>T	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1071C>T	20.37:g.23346091C>T						GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_Silent_p.F357F	p.F357F			Q9H116	GZF1_HUMAN			2	1148	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		357					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Silent	SNP	ENST00000338121.5	37	c.1071C>T	CCDS13151.1																																																																																				0.622	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		13	107	0	0	0	1	0	13	107				
PPM1D	8493	broad.mit.edu	37	17	58734061	58734061	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:58734061C>G	ENST00000305921.3	+	5	1351	c.1119C>G	c.(1117-1119)atC>atG	p.I373M		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	373	PP2C-like.				G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			CCATAGTAATCTGCATCTCTC	0.463																																						ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1117-1119)atC>atG		protein phosphatase, Mg2+/Mn2+ dependent, 1D							121.0	112.0	115.0					17																	58734061		2203	4300	6503	SO:0001583	missense	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58734061C>G	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1119C>G	17.37:g.58734061C>G	ENSP00000306682:p.Ile373Met						p.I373M	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		5	1351	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		373			PP2C-like.		Q53XP4|Q6P991|Q8IVR6	Missense_Mutation	SNP	ENST00000305921.3	37	c.1119C>G	CCDS11625.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692523	0.68271	.	.	ENSG00000170836	ENST00000305921;ENST00000544712;ENST00000392995	T;T	0.12984	2.63;2.63	5.98	3.97	0.46021	Protein phosphatase 2C-like (3);	0.139139	0.64402	D	0.000004	T	0.39358	0.1075	M	0.87097	2.86	0.49483	D	0.999793	D	0.69078	0.997	D	0.68353	0.957	T	0.44065	-0.9352	10	0.87932	D	0	-14.5927	11.5829	0.50902	0.0:0.8595:0.0:0.1405	.	373	O15297	PPM1D_HUMAN	M	373;221;373	ENSP00000306682:I373M;ENSP00000376720:I373M	ENSP00000306682:I373M	I	+	3	3	PPM1D	56088843	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.763000	0.47605	1.545000	0.49373	0.644000	0.83932	ATC		0.463	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		18	87	0	0	0	1	0	18	87				
HIRA	7290	broad.mit.edu	37	22	19343784	19343784	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:19343784C>T	ENST00000263208.5	-	20	2680	c.2424G>A	c.(2422-2424)gtG>gtA	p.V808V	HIRA_ENST00000541063.1_Silent_p.V764V|HIRA_ENST00000546308.1_Silent_p.V764V|HIRA_ENST00000340170.4_Silent_p.V601V	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	808	Interaction with PAX3. {ECO:0000250}.|Interaction with histone H2B.|Interaction with histone H4.|Poly-Val.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					ACTCTTCTTTCACCACAACCA	0.527																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(2422-2424)gtG>gtA		histone cell cycle regulator							146.0	116.0	126.0					22																	19343784		2203	4300	6503	SO:0001819	synonymous_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19343784C>T	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.2424G>A	22.37:g.19343784C>T						HIRA_ENST00000546308.1_Silent_p.V764V|HIRA_ENST00000541063.1_Silent_p.V764V|HIRA_ENST00000340170.4_Silent_p.V601V	p.V808V	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			20	2680	-	Colorectal(54;0.0993)		808			Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4.|Poly-Val.		Q05BU9|Q8IXN2	Silent	SNP	ENST00000263208.5	37	c.2424G>A	CCDS13759.1																																																																																				0.527	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		26	156	0	0	0	1	0	26	156				
LRFN2	57497	broad.mit.edu	37	6	40399881	40399881	+	Silent	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:40399881G>C	ENST00000338305.6	-	2	1514	c.972C>G	c.(970-972)gcC>gcG	p.A324A		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	324	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGTCATCGGGGGCTACCCAGT	0.587																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(970-972)gcC>gcG		leucine rich repeat and fibronectin type III domain containing 2							43.0	41.0	42.0					6																	40399881		2203	4298	6501	SO:0001819	synonymous_variant	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40399881G>C	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.972C>G	6.37:g.40399881G>C							p.A324A	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			2	1514	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		324			Ig-like.		A5PKU3|Q5SYP9	Silent	SNP	ENST00000338305.6	37	c.972C>G	CCDS34443.1																																																																																				0.587	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		6	83	0	0	0	1	0	6	83				
AFF1	4299	broad.mit.edu	37	4	88046198	88046198	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:88046198G>T	ENST00000307808.6	+	12	2875	c.2455G>T	c.(2455-2457)Gaa>Taa	p.E819*	AFF1_ENST00000395146.4_Nonsense_Mutation_p.E826*|AFF1_ENST00000544085.1_Nonsense_Mutation_p.E457*	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	819					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGGTGAAGCAGAAAGAGACTG	0.338																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(2455-2457)Gaa>Taa		AF4/FMR2 family, member 1							76.0	75.0	75.0					4																	88046198		2203	4300	6503	SO:0001587	stop_gained	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88046198G>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2455G>T	4.37:g.88046198G>T	ENSP00000305689:p.Glu819*					AFF1_ENST00000395146.4_Nonsense_Mutation_p.E826*|AFF1_ENST00000544085.1_Nonsense_Mutation_p.E457*	p.E819*	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	12	2875	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	819					B4DTU1|E9PBM3	Nonsense_Mutation	SNP	ENST00000307808.6	37	c.2455G>T	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	G	41	8.877318	0.98988	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	.	.	.	5.32	5.32	0.75619	.	0.291697	0.29587	N	0.011733	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-23.4834	15.058	0.71930	0.0:0.1424:0.8576:0.0	.	.	.	.	X	826;478;819;457	.	ENSP00000305689:E819X	E	+	1	0	AFF1	88265222	1.000000	0.71417	0.984000	0.44739	0.987000	0.75469	4.530000	0.60595	2.490000	0.84030	0.585000	0.79938	GAA		0.338	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		9	47	1	0	0.000442599	1	0.000452658	9	47				
RPH3AL	9501	broad.mit.edu	37	17	171158	171158	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:171158C>A	ENST00000331302.7	-	4	433	c.126G>T	c.(124-126)agG>agT	p.R42S	RP11-1260E13.1_ENST00000570501.1_RNA|RPH3AL_ENST00000536489.2_Missense_Mutation_p.R42S|RPH3AL_ENST00000323434.8_Missense_Mutation_p.R42S|RP11-1260E13.1_ENST00000572998.1_RNA|RPH3AL_ENST00000576001.1_5'Flank	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	42	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		GCTGCTTCCTCCTCTGCTTCT	0.662																																						ENST00000323434.8																			0				NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6						c.(124-126)agG>agT		rabphilin 3A-like (without C2 domains)							90.0	82.0	84.0					17																	171158		2203	4300	6503	SO:0001583	missense	9501				exocytosis|intracellular protein transport	transport vesicle membrane	cytoskeletal protein binding|Rab GTPase binding|zinc ion binding	g.chr17:171158C>A		CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.126G>T	17.37:g.171158C>A	ENSP00000328977:p.Arg42Ser					RPH3AL_ENST00000536489.2_Missense_Mutation_p.R42S|RPH3AL_ENST00000331302.7_Missense_Mutation_p.R42S	p.R42S	NM_001190412.1	NP_001177341.1	Q9UNE2	RPH3L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)	4	723	-			42			RabBD.		D3DTG7|Q9BSB3	Missense_Mutation	SNP	ENST00000331302.7	37	c.126G>T	CCDS10994.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516343	0.64634	.	.	ENSG00000181031	ENST00000323434;ENST00000331302;ENST00000536489	.	.	.	5.05	3.04	0.35103	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Rabphilin-3A effector, zinc-binding (1);	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	M	0.64170	1.965	0.40228	D	0.977817	P;P;D	0.55385	0.931;0.916;0.971	P;P;P	0.62740	0.761;0.648;0.906	T	0.72481	-0.4280	9	0.72032	D	0.01	-33.5575	11.5565	0.50750	0.0:0.8495:0.0:0.1505	.	42;42;42	A8K7D5;Q9UNE2-2;Q9UNE2	.;.;RPH3L_HUMAN	S	42	.	ENSP00000319210:R42S	R	-	3	2	RPH3AL	171158	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	1.932000	0.40143	1.124000	0.41980	-0.368000	0.07277	AGG		0.662	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206597.2	NM_006987		9	113	1	0	6.40141e-05	1	6.60696e-05	9	113				
NFE2L2	4780	broad.mit.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		15	Substitution - Missense(15)	p.D29H(11)|p.D29N(2)|p.D29Y(2)	lung(9)|upper_aerodigestive_tract(3)|cervix(1)|liver(1)|kidney(1)	central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(85-87)Gat>Cat		nuclear factor, erythroid 2-like 2							66.0	59.0	61.0					2																	178098960		1843	4100	5943	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098960C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.85G>C	2.37:g.178098960C>G	ENSP00000380252:p.Asp29His	HNSCC(56;0.16)				NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H	p.D29H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	639	-			29					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.85G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072800	0.76415	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	13;13;13;29	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	H	13;29;13;13;13;13;13	ENSP00000380253:D13H;ENSP00000380252:D29H;ENSP00000411575:D13H;ENSP00000391590:D13H;ENSP00000400073:D13H;ENSP00000412191:D13H;ENSP00000410015:D13H	ENSP00000380252:D29H	D	-	1	0	NFE2L2	177807206	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	GAT		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		25	70	0	0	0	1	0	25	70				
ATP13A4	84239	broad.mit.edu	37	3	193132398	193132398	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:193132398C>G	ENST00000342695.4	-	26	3306	c.2984G>C	c.(2983-2985)aGg>aCg	p.R995T	ATP13A4_ENST00000482964.1_5'Flank|ATP13A4_ENST00000392443.3_Missense_Mutation_p.R976T|ATP13A4_ENST00000400270.2_Missense_Mutation_p.R11T	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	995						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCAAGGCTGCCTCTGAACCAG	0.468																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(2983-2985)aGg>aCg		ATPase type 13A4							66.0	60.0	62.0					3																	193132398		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193132398C>G	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2984G>C	3.37:g.193132398C>G	ENSP00000339182:p.Arg995Thr					ATP13A4_ENST00000400270.2_Missense_Mutation_p.R11T|ATP13A4_ENST00000392443.3_Missense_Mutation_p.R976T	p.R995T	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	26	3306	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		995					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.2984G>C	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678429	0.47886	.	.	ENSG00000127249	ENST00000400270;ENST00000392443;ENST00000342695	T;D;D	0.88664	0.47;-2.41;-2.41	6.02	-0.829	0.10796	.	0.384935	0.26237	N	0.025535	T	0.73651	0.3614	N	0.16708	0.43	0.80722	D	1	B	0.17038	0.02	B	0.20184	0.028	T	0.53906	-0.8372	10	0.14252	T	0.57	-5.0213	5.5452	0.17059	0.0:0.2576:0.1569:0.5854	.	995	Q4VNC1	AT134_HUMAN	T	11;976;995	ENSP00000383129:R11T;ENSP00000376238:R976T;ENSP00000339182:R995T	ENSP00000339182:R995T	R	-	2	0	ATP13A4	194615092	0.918000	0.31147	0.996000	0.52242	0.991000	0.79684	0.264000	0.18497	-0.046000	0.13446	-0.142000	0.14014	AGG		0.468	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		17	101	0	0	0	1	0	17	101				
WFDC10B	280664	broad.mit.edu	37	20	44314553	44314553	+	Missense_Mutation	SNP	T	T	A	rs142448374		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr20:44314553T>A	ENST00000330523.5	-	3	309	c.79A>T	c.(79-81)Atg>Ttg	p.M27L	WFDC10B_ENST00000335769.2_Intron	NM_172006.2	NP_742003.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B	27						extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				TGCATCCTCATCTTGTCACGG	0.577																																						ENST00000330523.5																			0				lung(2)|ovary(1)|stomach(1)	4						c.(79-81)Atg>Ttg		WAP four-disulfide core domain 10B							207.0	151.0	170.0					20																	44314553		2203	4300	6503	SO:0001583	missense	280664					extracellular region	peptidase inhibitor activity	g.chr20:44314553T>A	AF454506	CCDS13365.1, CCDS13366.1	20q13.12	2013-01-21			ENSG00000182931	ENSG00000182931		"""WAP four-disulfide core domain containing"""	20479	protein-coding gene	gene with protein product						12206714	Standard	NM_172006		Approved	WAP12	uc002xpb.3	Q8IUB3	OTTHUMG00000130227	ENST00000330523.5:c.79A>T	20.37:g.44314553T>A	ENSP00000327628:p.Met27Leu					WFDC10B_ENST00000335769.2_Intron	p.M27L	NM_172006.2	NP_742003.1	Q8IUB3	WF10B_HUMAN			3	309	-		Myeloproliferative disorder(115;0.0122)	27					A6PVD7|Q0VAG0|Q0VAG1|Q5TGZ5|Q8IUB4	Missense_Mutation	SNP	ENST00000330523.5	37	c.79A>T	CCDS13366.1	.	.	.	.	.	.	.	.	.	.	T	9.979	1.227677	0.22542	.	.	ENSG00000182931	ENST00000330523	T	0.28069	1.63	3.76	1.44	0.22558	.	.	.	.	.	T	0.19005	0.0456	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.21690	-1.0238	8	0.45353	T	0.12	.	3.7717	0.08645	0.0:0.1213:0.2375:0.6412	.	27	Q8IUB3	WF10B_HUMAN	L	27	ENSP00000327628:M27L	ENSP00000327628:M27L	M	-	1	0	WFDC10B	43747967	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-0.021000	0.12504	0.294000	0.22547	0.379000	0.24179	ATG		0.577	WFDC10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252547.1			12	26	0	0	0	1	0	12	26				
NDUFB4	4710	broad.mit.edu	37	3	120320071	120320071	+	Silent	SNP	C	C	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:120320071C>A	ENST00000184266.2	+	2	345	c.294C>A	c.(292-294)ctC>ctA	p.L98L	NDUFB4_ENST00000485064.1_Silent_p.L98L|NDUFB4_ENST00000492739.1_Intron	NM_004547.5	NP_004538.2	O95168	NDUB4_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	98					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)		TTGGGCCCCTCATCTTCATTT	0.413																																						ENST00000485064.1																			0				breast(1)|large_intestine(1)|lung(3)	5						c.(292-294)ctC>ctA		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa	NADH(DB00157)						131.0	151.0	144.0					3																	120320071		2203	4296	6499	SO:0001819	synonymous_variant	4710				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr3:120320071C>A	AF044957	CCDS2999.1, CCDS54630.1	3q13.33	2011-07-04	2002-08-29		ENSG00000065518	ENSG00000065518		"""Mitochondrial respiratory chain complex / Complex I"""	7699	protein-coding gene	gene with protein product	"""complex I B15 subunit"""	603840	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4 (15kD, B15)"""			9878551	Standard	NM_004547		Approved	B15	uc003edu.3	O95168	OTTHUMG00000159442	ENST00000184266.2:c.294C>A	3.37:g.120320071C>A						NDUFB4_ENST00000184266.2_Silent_p.L98L|NDUFB4_ENST00000492739.1_Intron	p.L98L	NM_001168331.1	NP_001161803.1	O95168	NDUB4_HUMAN		GBM - Glioblastoma multiforme(114;0.14)	2	326	+			98					B2RUY3|B9EJC7	Silent	SNP	ENST00000184266.2	37	c.294C>A	CCDS2999.1																																																																																				0.413	NDUFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355420.1	NM_004547		140	340	1	0	3.45299e-71	1	3.78987e-71	140	340				
RNF8	9025	broad.mit.edu	37	6	37342431	37342431	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:37342431G>C	ENST00000373479.4	+	5	1267	c.1074G>C	c.(1072-1074)aaG>aaC	p.K358N	RNF8_ENST00000469731.1_Missense_Mutation_p.K358N	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	358					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						ATCGCAGCAAGAAGGACTTTG	0.398																																						ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(1072-1074)aaG>aaC		ring finger protein 8, E3 ubiquitin protein ligase							112.0	100.0	104.0					6																	37342431		2203	4300	6503	SO:0001583	missense	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37342431G>C	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.1074G>C	6.37:g.37342431G>C	ENSP00000362578:p.Lys358Asn					RNF8_ENST00000469731.1_Missense_Mutation_p.K358N	p.K358N	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN			5	1267	+			358					A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.1074G>C	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085684	0.76642	.	.	ENSG00000112130	ENST00000373479;ENST00000469731	D;T	0.83419	-1.72;0.5	6.06	6.06	0.98353	.	0.135690	0.48767	D	0.000168	D	0.82664	0.5086	L	0.56769	1.78	0.80722	D	1	D	0.56035	0.974	P	0.53450	0.726	D	0.84435	0.0579	10	0.66056	D	0.02	-6.1197	12.7775	0.57457	0.0816:0.0:0.9184:0.0	.	358	O76064	RNF8_HUMAN	N	358	ENSP00000362578:K358N;ENSP00000418879:K358N	ENSP00000362578:K358N	K	+	3	2	RNF8	37450409	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.063000	0.41423	2.871000	0.98454	0.655000	0.94253	AAG		0.398	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			7	117	0	0	0	1	0	7	117				
ESX1	80712	broad.mit.edu	37	X	103495339	103495339	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:103495339C>T	ENST00000372588.4	-	4	874	c.791G>A	c.(790-792)aGg>aAg	p.R264K		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	264	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						tatgggtggcctgggtggcat	0.657																																					Pancreas(200;1705 2227 25194 28471 45274)	ENST00000372588.4																			0				endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						c.(790-792)aGg>aAg		ESX homeobox 1							91.0	84.0	86.0					X																	103495339		2203	4300	6503	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495339C>T	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.791G>A	X.37:g.103495339C>T	ENSP00000361669:p.Arg264Lys						p.R264K	NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN			4	874	-			264			15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.		B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.791G>A	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	C	0.617	-0.822740	0.02755	.	.	ENSG00000123576	ENST00000372588	T	0.73152	-0.72	1.92	-3.85	0.04243	.	.	.	.	.	T	0.46132	0.1377	L	0.48642	1.525	0.09310	N	1	P	0.35139	0.486	B	0.19946	0.027	T	0.45190	-0.9278	9	0.06099	T	0.92	6.4665	4.2395	0.10642	0.38:0.24:0.3799:0.0	.	264	Q8N693	ESX1_HUMAN	K	264	ENSP00000361669:R264K	ENSP00000361669:R264K	R	-	2	0	ESX1	103381995	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	0.130000	0.15850	-0.598000	0.05806	0.483000	0.47432	AGG		0.657	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		95	34	0	0	0	1	0	95	34				
ZNF540	163255	broad.mit.edu	37	19	38102635	38102635	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:38102635G>A	ENST00000592533.1	+	5	786	c.454G>A	c.(454-456)Gat>Aat	p.D152N	ZNF540_ENST00000316433.4_Missense_Mutation_p.D152N|ZNF540_ENST00000343599.5_Missense_Mutation_p.D152N|ZNF540_ENST00000589117.1_Missense_Mutation_p.D120N|ZNF540_ENST00000586792.1_3'UTR	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	152					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGTCAACTGATAGAAAACG	0.363																																						ENST00000592533.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28						c.(454-456)Gat>Aat		zinc finger protein 540							84.0	89.0	87.0					19																	38102635		2203	4299	6502	SO:0001583	missense	163255							g.chr19:38102635G>A	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.454G>A	19.37:g.38102635G>A	ENSP00000466274:p.Asp152Asn					ZNF540_ENST00000316433.4_Missense_Mutation_p.D152N|ZNF540_ENST00000589117.1_Missense_Mutation_p.D120N|ZNF540_ENST00000343599.5_Missense_Mutation_p.D152N|ZNF540_ENST00000586792.1_3'UTR	p.D152N	NM_152606.4	NP_689819.1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	786	+								A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	c.454G>A	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	G	3.582	-0.085426	0.07097	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.08370	3.1	1.97	-3.95	0.04118	.	.	.	.	.	T	0.03053	0.0090	N	0.03608	-0.345	0.09310	N	1	B;B	0.20368	0.044;0.026	B;B	0.21546	0.035;0.015	T	0.42599	-0.9442	9	0.35671	T	0.21	.	4.9159	0.13846	0.1513:0.0:0.4347:0.414	.	120;152	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	N	152;120	ENSP00000324598:D152N	ENSP00000324598:D152N	D	+	1	0	ZNF540	42794475	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.342000	0.07801	-1.513000	0.01789	0.205000	0.17691	GAT		0.363	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		26	148	0	0	0	1	0	26	148				
ANKFY1	51479	broad.mit.edu	37	17	4086837	4086837	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:4086837G>A	ENST00000341657.4	-	14	1843	c.1808C>T	c.(1807-1809)aCg>aTg	p.T603M	ANKFY1_ENST00000570535.1_Missense_Mutation_p.T645M|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.T603M|Y_RNA_ENST00000516003.1_RNA|ANKFY1_ENST00000573722.1_5'Flank	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	603					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGCTGCGATCGTGTGCATGCC	0.577																																						ENST00000341657.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1807-1809)aCg>aTg		ankyrin repeat and FYVE domain containing 1							55.0	55.0	55.0					17																	4086837		2067	4200	6267	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4086837G>A	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1808C>T	17.37:g.4086837G>A	ENSP00000343362:p.Thr603Met					CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Missense_Mutation_p.T645M|ANKFY1_ENST00000574367.1_Missense_Mutation_p.T603M	p.T603M	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN			14	1843	-			603					A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.1808C>T		.	.	.	.	.	.	.	.	.	.	G	15.74	2.921567	0.52653	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	T	0.53640	0.61	5.23	5.23	0.72850	Ankyrin repeat-containing domain (4);	0.056457	0.64402	D	0.000001	T	0.50429	0.1615	L	0.27053	0.805	0.80722	D	1	D;P;P;P	0.63046	0.992;0.914;0.895;0.938	P;P;B;B	0.53861	0.736;0.537;0.401;0.401	T	0.55354	-0.8154	10	0.72032	D	0.01	-14.508	17.8018	0.88590	0.0:0.0:1.0:0.0	.	544;603;603;645	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	M	603;544	ENSP00000343362:T603M	ENSP00000343362:T603M	T	-	2	0	ANKFY1	4033586	1.000000	0.71417	0.948000	0.38648	0.534000	0.34807	4.265000	0.58865	2.433000	0.82419	0.563000	0.77884	ACG		0.577	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		4	80	0	0	0	1	0	4	80				
GPR116	221395	broad.mit.edu	37	6	46830762	46830762	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:46830762G>A	ENST00000283296.7	-	15	2350	c.2062C>T	c.(2062-2064)Cgg>Tgg	p.R688W	GPR116_ENST00000456426.2_Missense_Mutation_p.R546W|GPR116_ENST00000265417.7_Missense_Mutation_p.R688W|GPR116_ENST00000362015.4_Missense_Mutation_p.R688W|GPR116_ENST00000545669.1_Missense_Mutation_p.R117W	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	688					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTTGAGAACCGGCATAGCTTC	0.507																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2062-2064)Cgg>Tgg		G protein-coupled receptor 116							101.0	97.0	98.0					6																	46830762		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46830762G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2062C>T	6.37:g.46830762G>A	ENSP00000283296:p.Arg688Trp					GPR116_ENST00000456426.2_Missense_Mutation_p.R546W|GPR116_ENST00000545669.1_Missense_Mutation_p.R117W|GPR116_ENST00000265417.7_Missense_Mutation_p.R688W|GPR116_ENST00000362015.4_Missense_Mutation_p.R688W	p.R688W	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		15	2350	-			688					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.2062C>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606632	0.66558	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.27402	1.71;2.09;1.71;1.71;1.67	5.33	4.45	0.53987	.	1.071200	0.07239	N	0.863949	T	0.23886	0.0578	L	0.36672	1.1	0.26403	N	0.976395	P;P;D;D;D	0.61080	0.813;0.738;0.989;0.976;0.989	P;P;B;P;B	0.55785	0.471;0.462;0.296;0.784;0.296	T	0.11108	-1.0601	10	0.56958	D	0.05	-0.1635	7.6014	0.28077	0.1596:0.0:0.8404:0.0	.	117;243;688;546;688	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	W	688;688;688;546;59;688;117	ENSP00000283296:R688W;ENSP00000354563:R688W;ENSP00000412866:R546W;ENSP00000265417:R688W;ENSP00000441581:R117W	ENSP00000265417:R688W	R	-	1	2	GPR116	46938721	0.789000	0.28775	0.922000	0.36590	0.744000	0.42396	0.931000	0.28871	2.652000	0.90054	0.655000	0.94253	CGG		0.507	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		50	166	0	0	0	1	0	50	166				
DDX43	55510	broad.mit.edu	37	6	74104744	74104744	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:74104744G>C	ENST00000370336.4	+	1	274	c.116G>C	c.(115-117)gGt>gCt	p.G39A	snoU13_ENST00000459178.1_RNA|OOEP_ENST00000370363.1_5'UTR|DDX43_ENST00000539829.1_Missense_Mutation_p.G39A	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	39					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AATCGAACAGGTCCTGAGGGA	0.642																																						ENST00000370336.4																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(115-117)gGt>gCt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							59.0	64.0	62.0					6																	74104744		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74104744G>C		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.116G>C	6.37:g.74104744G>C	ENSP00000359361:p.Gly39Ala					DDX43_ENST00000539829.1_Missense_Mutation_p.G39A|OOEP_ENST00000370363.1_5'UTR	p.G39A	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN			1	274	+			39					B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.116G>C	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248649	0.39797	.	.	ENSG00000080007	ENST00000370336;ENST00000539829	T;T	0.52295	2.44;0.67	3.78	1.94	0.25998	.	0.844599	0.10278	N	0.693954	T	0.13157	0.0319	L	0.43152	1.355	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.31024	-0.9958	10	0.10636	T	0.68	-0.0676	4.5159	0.11935	0.1163:0.0:0.6654:0.2184	.	39	Q9NXZ2	DDX43_HUMAN	A	39	ENSP00000359361:G39A;ENSP00000441636:G39A	ENSP00000359361:G39A	G	+	2	0	DDX43	74161465	0.278000	0.24230	0.001000	0.08648	0.005000	0.04900	1.900000	0.39828	0.535000	0.28714	0.455000	0.32223	GGT		0.642	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		4	138	0	0	0	1	0	4	138				
TTBK2	146057	broad.mit.edu	37	15	43075781	43075781	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr15:43075781C>T	ENST00000267890.6	-	11	1141	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	TTBK2_ENST00000567274.1_Missense_Mutation_p.E310K|TTBK2_ENST00000567840.1_Missense_Mutation_p.E345K	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	345					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGAAATACCTCATCTGTATTT	0.443																																						ENST00000267890.6																			0				NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43						c.(1033-1035)Gag>Aag		tau tubulin kinase 2							209.0	206.0	207.0					15																	43075781		1871	4106	5977	SO:0001583	missense	146057				cell death		ATP binding|protein serine/threonine kinase activity	g.chr15:43075781C>T	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1033G>A	15.37:g.43075781C>T	ENSP00000267890:p.Glu345Lys					TTBK2_ENST00000567840.1_Missense_Mutation_p.E345K|TTBK2_ENST00000567274.1_Missense_Mutation_p.E310K	p.E345K	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN		GBM - Glioblastoma multiforme(94;3.23e-07)	11	1141	-		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)	345					O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	c.1033G>A	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	C	36	5.807296	0.96967	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.44482	0.92	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.60340	0.2261	L	0.44542	1.39	0.80722	D	1	D;D;P;D	0.76494	0.993;0.999;0.887;0.999	D;D;P;D	0.77557	0.971;0.99;0.466;0.978	T	0.60156	-0.7318	10	0.87932	D	0	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	750;276;345;345	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	K	345;275;750	ENSP00000267890:E345K	ENSP00000263802:E750K	E	-	1	0	TTBK2	40863073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.196000	0.77805	2.767000	0.95098	0.655000	0.94253	GAG		0.443	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2	NM_173500		52	211	0	0	0	1	0	52	211				
MUM1L1	139221	broad.mit.edu	37	X	105450867	105450867	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:105450867G>C	ENST00000357175.2	+	4	2091	c.1442G>C	c.(1441-1443)gGt>gCt	p.G481A	MUM1L1_ENST00000372552.1_Missense_Mutation_p.G481A|MUM1L1_ENST00000337685.2_Missense_Mutation_p.G481A	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	481						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GTTAGAATAGGTTGTGGTTCT	0.383																																						ENST00000337685.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1441-1443)gGt>gCt		melanoma associated antigen (mutated) 1-like 1							78.0	71.0	73.0					X																	105450867		1845	4077	5922	SO:0001583	missense	139221							g.chrX:105450867G>C	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1442G>C	X.37:g.105450867G>C	ENSP00000349699:p.Gly481Ala					MUM1L1_ENST00000372552.1_Missense_Mutation_p.G481A|MUM1L1_ENST00000357175.2_Missense_Mutation_p.G481A	p.G481A	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN			5	2227	+			481					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.1442G>C	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903772	0.33628	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.40476	1.03;1.03;1.03	4.84	4.84	0.62591	.	0.000000	0.53938	D	0.000053	T	0.53286	0.1787	L	0.43152	1.355	0.39474	D	0.967776	D	0.89917	1.0	D	0.91635	0.999	T	0.48927	-0.8991	10	0.29301	T	0.29	-48.8131	12.2749	0.54728	0.0:0.0:1.0:0.0	.	481	Q5H9M0	MUML1_HUMAN	A	481	ENSP00000349699:G481A;ENSP00000338641:G481A;ENSP00000361632:G481A	ENSP00000338641:G481A	G	+	2	0	MUM1L1	105337523	1.000000	0.71417	0.998000	0.56505	0.727000	0.41649	6.590000	0.74085	2.388000	0.81334	0.529000	0.55759	GGT		0.383	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		11	51	0	0	0	1	0	11	51				
IFNG	3458	broad.mit.edu	37	12	68551860	68551860	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:68551860T>A	ENST00000229135.3	-	3	330	c.199A>T	c.(199-201)Ata>Tta	p.I67L	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	67					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	CTCTGCATTATTTTTCTGTCA	0.373																																						ENST00000229135.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12						c.(199-201)Ata>Tta		interferon, gamma	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)						83.0	84.0	83.0					12																	68551860		2202	4300	6502	SO:0001583	missense	3458				cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding	g.chr12:68551860T>A		CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"""Interferons"""	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.199A>T	12.37:g.68551860T>A	ENSP00000229135:p.Ile67Leu					IFNG-AS1_ENST00000536914.1_RNA	p.I67L	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	3	330	-			67					B5BU88|Q53ZV4	Missense_Mutation	SNP	ENST00000229135.3	37	c.199A>T	CCDS8980.1	.	.	.	.	.	.	.	.	.	.	T	17.67	3.447813	0.63178	.	.	ENSG00000111537	ENST00000229135	T	0.51325	0.71	4.98	0.0466	0.14256	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.279315	0.39985	N	0.001214	T	0.58652	0.2137	M	0.85299	2.745	0.34308	D	0.685086	P	0.37330	0.59	P	0.50314	0.637	T	0.64491	-0.6395	9	.	.	.	-5.3781	7.1554	0.25635	0.0:0.3915:0.0:0.6085	.	67	P01579	IFNG_HUMAN	L	67	ENSP00000229135:I67L	.	I	-	1	0	IFNG	66838127	0.968000	0.33430	0.574000	0.28523	0.637000	0.38172	0.528000	0.23002	0.047000	0.15862	0.460000	0.39030	ATA		0.373	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402301.1			5	88	0	0	0	1	0	5	88				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		4	123	0	0	0	1	0	4	123				
CCDC14	64770	broad.mit.edu	37	3	123652563	123652563	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:123652563C>G	ENST00000488653.2	-	10	1617	c.1527G>C	c.(1525-1527)caG>caC	p.Q509H	CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.Q309H|CCDC14_ENST00000433542.2_Missense_Mutation_p.Q468H|CCDC14_ENST00000310351.4_Missense_Mutation_p.Q349H|CCDC14_ENST00000485727.1_Missense_Mutation_p.Q309H			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	509					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TTTGAGTTTTCTGTTGTTCTC	0.348																																						ENST00000485727.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21						c.(925-927)caG>caC		coiled-coil domain containing 14							106.0	105.0	105.0					3																	123652563		2202	4298	6500	SO:0001583	missense	64770					centrosome		g.chr3:123652563C>G	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1527G>C	3.37:g.123652563C>G	ENSP00000420180:p.Gln509His					CCDC14_ENST00000488653.2_Missense_Mutation_p.Q509H|CCDC14_ENST00000433542.2_Missense_Mutation_p.Q468H|CCDC14_ENST00000310351.4_Missense_Mutation_p.Q349H|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.Q309H	p.Q309H			Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	6	5519	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	509					B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37	c.927G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.998|9.998	1.232808|1.232808	0.22626|0.22626	.|.	.|.	ENSG00000175455|ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697;ENST00000419247|ENST00000479903	T;T;T;T;T;T;T|.	0.42900|.	0.96;0.96;0.96;0.96;0.96;0.96;0.96|.	5.2|5.2	2.88|2.88	0.33553|0.33553	.|.	0.226724|.	0.30011|.	N|.	0.010621|.	T|T	0.18002|0.18002	0.0432|0.0432	N|N	0.08118|0.08118	0|0	0.19300|0.19300	N|N	0.999978|0.999978	B;B;B;B|.	0.16396|.	0.017;0.017;0.017;0.017|.	B;B;B;B|.	0.11329|.	0.006;0.006;0.006;0.006|.	T|T	0.25916|0.25916	-1.0118|-1.0118	10|5	0.87932|.	D|.	0|.	.|.	7.6029|7.6029	0.28085|0.28085	0.0:0.261:0.0:0.739|0.0:0.261:0.0:0.739	.|.	509;468;309;350|.	Q49A88;Q49A88-6;Q49A88-4;Q49A88-5|.	CCD14_HUMAN;.;.;.|.	H|T	509;349;309;309;468;490;150|91	ENSP00000420180:Q509H;ENSP00000312031:Q349H;ENSP00000418002:Q309H;ENSP00000418403:Q309H;ENSP00000395706:Q468H;ENSP00000386866:Q490H;ENSP00000400957:Q150H|.	ENSP00000312031:Q349H|.	Q|R	-|-	3|2	2|0	CCDC14|CCDC14	125135253|125135253	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.519000|0.519000	0.34347|0.34347	0.415000|0.415000	0.21181|0.21181	0.471000|0.471000	0.27319|0.27319	-0.312000|-0.312000	0.09012|0.09012	CAG|AGA		0.348	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		4	26	0	0	0	1	0	4	26				
GRIK5	2901	broad.mit.edu	37	19	42509942	42509942	+	Silent	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:42509942G>C	ENST00000262895.3	-	16	2195	c.2196C>G	c.(2194-2196)ctC>ctG	p.L732L	GRIK5_ENST00000593562.1_Silent_p.L732L|GRIK5_ENST00000301218.4_Silent_p.L732L	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	732					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GGTTGCAGTTGAGGCGCCGGT	0.622																																						ENST00000262895.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2194-2196)ctC>ctG		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)						125.0	86.0	99.0					19																	42509942		2203	4300	6503	SO:0001819	synonymous_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42509942G>C		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2196C>G	19.37:g.42509942G>C						GRIK5_ENST00000593562.1_Silent_p.L732L|GRIK5_ENST00000301218.4_Silent_p.L732L	p.L732L	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN			16	2195	-		Prostate(69;0.059)	732					Q8WWG8	Silent	SNP	ENST00000262895.3	37	c.2196C>G	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326690	0.24080	.	.	ENSG00000105737	ENST00000454993	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	T	0.73830	0.3637	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72858	-0.4165	4	.	.	.	.	17.5664	0.87921	0.0:0.0:1.0:0.0	.	.	.	.	E	109	.	.	Q	-	1	0	GRIK5	47201782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.939000	0.56591	2.450000	0.82876	0.563000	0.77884	CAA		0.622	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			7	44	0	0	0	1	0	7	44				
HIRA	7290	broad.mit.edu	37	22	19343812	19343812	+	Splice_Site	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:19343812C>G	ENST00000263208.5	-	20	2653		c.e20-1		HIRA_ENST00000541063.1_Splice_Site|HIRA_ENST00000546308.1_Splice_Site|HIRA_ENST00000340170.4_Splice_Site	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator						anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GTGAACATCCCTAGGAGGGAG	0.547																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.e20-1		histone cell cycle regulator							125.0	101.0	109.0					22																	19343812		2203	4300	6503	SO:0001630	splice_region_variant	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19343812C>G	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.2397-1G>C	22.37:g.19343812C>G						HIRA_ENST00000546308.1_Splice_Site|HIRA_ENST00000541063.1_Splice_Site|HIRA_ENST00000340170.4_Splice_Site		NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			20	2653	-	Colorectal(54;0.0993)							Q05BU9|Q8IXN2	Splice_Site	SNP	ENST00000263208.5	37		CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582576	0.86748	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000539600;ENST00000546308	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2781	0.94040	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HIRA	17723812	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	6.784000	0.75084	2.545000	0.85829	0.655000	0.94253	.		0.547	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325	Intron	20	139	0	0	0	1	0	20	139				
APOA4	337	broad.mit.edu	37	11	116692154	116692154	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:116692154T>C	ENST00000357780.3	-	3	734	c.620A>G	c.(619-621)gAa>gGa	p.E207G		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	207	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GACTTTGAATTCGTCAGCGTA	0.622																																						ENST00000357780.3																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(619-621)gAa>gGa		apolipoprotein A-IV							212.0	203.0	206.0					11																	116692154		2201	4293	6494	SO:0001583	missense	337							g.chr11:116692154T>C		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.620A>G	11.37:g.116692154T>C	ENSP00000350425:p.Glu207Gly						p.E207G	NM_000482.3	NP_000473.2				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	3	734	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	ENST00000357780.3	37	c.620A>G	CCDS31681.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.627123	0.28978	.	.	ENSG00000110244	ENST00000357780	T	0.78816	-1.21	5.2	1.7	0.24286	Apolipoprotein/apolipophorin (1);	1.439250	0.04140	N	0.319406	T	0.80994	0.4731	M	0.83953	2.67	0.22842	N	0.998666	B	0.26400	0.148	B	0.29942	0.109	T	0.66460	-0.5918	10	0.66056	D	0.02	-6.1119	8.887	0.35409	0.0:0.218:0.0:0.782	.	207	P06727	APOA4_HUMAN	G	207	ENSP00000350425:E207G	ENSP00000350425:E207G	E	-	2	0	APOA4	116197364	0.004000	0.15560	0.058000	0.19502	0.403000	0.30841	1.532000	0.36029	0.827000	0.34685	0.460000	0.39030	GAA		0.622	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482		109	155	0	0	0	1	0	109	155				
JAG1	182	broad.mit.edu	37	20	10630267	10630267	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr20:10630267C>G	ENST00000254958.5	-	10	1766	c.1251G>C	c.(1249-1251)gaG>gaC	p.E417D	JAG1_ENST00000423891.2_Missense_Mutation_p.E258D	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	417	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AAGGTTTGGCCTCACATTCAT	0.468									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(1249-1251)gaG>gaC		jagged 1							161.0	119.0	133.0					20																	10630267		2203	4300	6503	SO:0001583	missense	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10630267C>G	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1251G>C	20.37:g.10630267C>G	ENSP00000254958:p.Glu417Asp					JAG1_ENST00000423891.2_Missense_Mutation_p.E258D	p.E417D	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			10	1766	-			417			EGF-like 6; calcium-binding (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.1251G>C	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.724894	0.30593	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	T;T	0.66460	-0.21;-0.21	5.76	5.76	0.90799	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.045848	0.85682	D	0.000000	T	0.43700	0.1259	N	0.04203	-0.255	0.54753	D	0.999986	B	0.17038	0.02	B	0.20384	0.029	T	0.37776	-0.9691	10	0.35671	T	0.21	.	10.6872	0.45850	0.0:0.8582:0.0:0.1418	.	417	P78504	JAG1_HUMAN	D	417;258	ENSP00000254958:E417D;ENSP00000389519:E258D	ENSP00000254958:E417D	E	-	3	2	JAG1	10578267	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.258000	0.32944	2.879000	0.98667	0.650000	0.86243	GAG		0.468	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		10	36	0	0	0	1	0	10	36				
AQP12A	375318	broad.mit.edu	37	2	241631601	241631601	+	Silent	SNP	C	C	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:241631601C>A	ENST00000337801.4	+	2	303	c.234C>A	c.(232-234)gcC>gcA	p.A78A	AQP12A_ENST00000429564.1_Silent_p.A90A|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	78						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TGGACGGGGCCTCGGCCAACC	0.677																																						ENST00000429564.1																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14						c.(268-270)gcC>gcA		aquaporin 12A							32.0	48.0	42.0					2																	241631601		2129	4261	6390	SO:0001819	synonymous_variant	375318					integral to membrane	transporter activity	g.chr2:241631601C>A	AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.234C>A	2.37:g.241631601C>A						AQP12A_ENST00000337801.4_Silent_p.A78A	p.A90A			Q8IXF9	AQ12A_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	2	333	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	78						Silent	SNP	ENST00000337801.4	37	c.270C>A																																																																																					0.677	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998		16	67	1	0	1.01871e-10	1	1.07108e-10	16	67				
EIF1AD	84285	broad.mit.edu	37	11	65766195	65766195	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:65766195G>A	ENST00000312234.2	-	6	707	c.373C>T	c.(373-375)Cca>Tca	p.P125S	EIF1AD_ENST00000533544.1_Missense_Mutation_p.P125S|EIF1AD_ENST00000529964.1_Missense_Mutation_p.P125S|EIF1AD_ENST00000525767.1_Missense_Mutation_p.P73S|EIF1AD_ENST00000526451.1_Missense_Mutation_p.P125S|EIF1AD_ENST00000527249.1_Missense_Mutation_p.P125S	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A domain containing	125						intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	translation initiation factor activity (GO:0003743)			lung(5)	5						GGCTCAGCTGGGAGTTCTGGT	0.473																																						ENST00000312234.2																			0				lung(5)	5						c.(373-375)Cca>Tca		eukaryotic translation initiation factor 1A domain containing							140.0	136.0	137.0					11																	65766195		2201	4296	6497	SO:0001583	missense	84285					nucleus	translation initiation factor activity	g.chr11:65766195G>A	AK094129	CCDS8124.1	11q13.1	2009-05-27				ENSG00000175376			28147	protein-coding gene	gene with protein product						12477932	Standard	NM_001242482		Approved	MGC11102, haponin	uc001ogn.2	Q8N9N8		ENST00000312234.2:c.373C>T	11.37:g.65766195G>A	ENSP00000309175:p.Pro125Ser					EIF1AD_ENST00000527249.1_Missense_Mutation_p.P125S|EIF1AD_ENST00000526451.1_Missense_Mutation_p.P125S|EIF1AD_ENST00000525767.1_Missense_Mutation_p.P73S|EIF1AD_ENST00000533544.1_Missense_Mutation_p.P125S	p.P125S	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN			6	707	-			125					B2R4N5|Q9BSC1	Missense_Mutation	SNP	ENST00000312234.2	37	c.373C>T	CCDS8124.1	.	.	.	.	.	.	.	.	.	.	G	6.786	0.513944	0.12944	.	.	ENSG00000175376	ENST00000526451;ENST00000312234;ENST00000525767;ENST00000529964;ENST00000533544;ENST00000527249	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	5.17	4.26	0.50523	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.510765	0.20364	N	0.093792	T	0.21718	0.0523	N	0.21583	0.68	0.31381	N	0.679053	P	0.35575	0.51	B	0.26094	0.066	T	0.16482	-1.0401	10	0.20046	T	0.44	.	6.753	0.23497	0.0901:0.0:0.7352:0.1747	.	125	Q8N9N8	EIF1A_HUMAN	S	125;125;73;125;125;125	ENSP00000436644:P125S;ENSP00000309175:P125S;ENSP00000434796:P73S;ENSP00000435942:P125S;ENSP00000434056:P125S;ENSP00000435439:P125S	ENSP00000309175:P125S	P	-	1	0	EIF1AD	65522771	1.000000	0.71417	0.910000	0.35882	0.116000	0.19942	2.082000	0.41605	1.187000	0.43000	0.643000	0.83706	CCA		0.473	EIF1AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391072.1	NM_032325		73	180	0	0	0	1	0	73	180				
ASTN2	23245	broad.mit.edu	37	9	119903610	119903610	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:119903610G>C	ENST00000313400.4	-	4	1263	c.1163C>G	c.(1162-1164)tCt>tGt	p.S388C	ASTN2_ENST00000373996.3_Missense_Mutation_p.S388C|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron			O75129	ASTN2_HUMAN	astrotactin 2	388					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCTACCTCGAGACTTGCTCCT	0.572																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1162-1164)tCt>tGt		astrotactin 2							91.0	70.0	77.0					9																	119903610		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119903610G>C	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1163C>G	9.37:g.119903610G>C	ENSP00000314038:p.Ser388Cys					ASTN2_ENST00000373996.3_Missense_Mutation_p.S388C|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron	p.S388C			O75129	ASTN2_HUMAN			4	1263	-			388					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1163C>G		.	.	.	.	.	.	.	.	.	.	G	16.94	3.260654	0.59431	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986	T;T;T	0.12774	2.83;2.83;2.65	5.19	5.19	0.71726	.	0.234402	0.36815	N	0.002388	T	0.28863	0.0716	.	.	.	0.40107	D	0.976441	B;D	0.57571	0.187;0.98	B;P	0.55303	0.219;0.773	T	0.01345	-1.1379	8	.	.	.	-6.1992	16.8953	0.86098	0.0:0.0:1.0:0.0	.	388;388	O75129;O75129-3	ASTN2_HUMAN;.	C	388;388;115	ENSP00000314038:S388C;ENSP00000363108:S388C;ENSP00000363098:S115C	.	S	-	2	0	ASTN2	118943431	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.118000	0.77137	2.417000	0.82017	0.650000	0.86243	TCT		0.572	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		11	46	0	0	0	1	0	11	46				
EZR	7430	broad.mit.edu	37	6	159188386	159188386	+	Silent	SNP	C	C	T	rs149944596		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:159188386C>T	ENST00000367075.3	-	13	1671	c.1503G>A	c.(1501-1503)gcG>gcA	p.A501A	MIR3918_ENST00000581555.1_RNA|EZR_ENST00000392177.4_Silent_p.A469A|EZR_ENST00000337147.7_Silent_p.A501A	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	501	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TAGACAGCTCCGCGCTGTAGC	0.657			T	ROS1	NSCLC								C|||	1	0.000199681	0.0	0.0	5008	,	,		19982	0.001		0.0	False		,,,				2504	0.0					ENST00000367075.3				Dom	yes		6	6q25.3	7430	T	ezrin			E	ROS1		NSCLC	EZR/ROS1(4)	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15						c.(1501-1503)gcG>gcA		ezrin		C	,	0,4406		0,0,2203	77.0	78.0	77.0		1503,1503	-1.6	1.0	6	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	EZR	NM_001111077.1,NM_003379.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	501/587,501/587	159188386	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159188386C>T	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1503G>A	6.37:g.159188386C>T						EZR_ENST00000392177.4_Silent_p.A469A|EZR_ENST00000337147.7_Silent_p.A501A	p.A501A	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	13	1671	-		Breast(66;0.000776)|Ovarian(120;0.0303)	501			Interaction with SCYL3.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Silent	SNP	ENST00000367075.3	37	c.1503G>A	CCDS5258.1																																																																																				0.657	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		29	104	0	0	0	1	0	29	104				
UBN1	29855	broad.mit.edu	37	16	4910834	4910834	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:4910834G>A	ENST00000396658.4	+	6	1544	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	UBN1_ENST00000545171.1_Missense_Mutation_p.E281K|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000262376.6_Missense_Mutation_p.E281K|UBN1_ENST00000590769.1_Missense_Mutation_p.E281K	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	281					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GGGCCTGCGGGAACTGGAGGG	0.542																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(841-843)Gaa>Aaa		ubinuclein 1							147.0	124.0	132.0					16																	4910834		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910834G>A	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.841G>A	16.37:g.4910834G>A	ENSP00000379894:p.Glu281Lys					UBN1_ENST00000590769.1_Missense_Mutation_p.E281K|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000262376.6_Missense_Mutation_p.E281K|UBN1_ENST00000545171.1_Missense_Mutation_p.E281K	p.E281K	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1544	+			281					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.841G>A	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.503138	0.64298	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.47177	1.44;0.85;1.44	5.24	5.24	0.73138	.	0.284691	0.32952	N	0.005452	T	0.55401	0.1918	L	0.54323	1.7	0.48696	D	0.999698	P;P	0.47910	0.902;0.842	P;B	0.49085	0.6;0.395	T	0.53429	-0.8440	10	0.45353	T	0.12	-15.8745	19.3787	0.94523	0.0:0.0:1.0:0.0	.	281;281	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	K	281	ENSP00000262376:E281K;ENSP00000442379:E281K;ENSP00000379894:E281K	ENSP00000262376:E281K	E	+	1	0	UBN1	4850835	1.000000	0.71417	0.997000	0.53966	0.582000	0.36321	4.932000	0.63476	2.884000	0.98904	0.655000	0.94253	GAA		0.542	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		42	90	0	0	0	1	0	42	90				
FCHO1	23149	broad.mit.edu	37	19	17895634	17895634	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:17895634C>T	ENST00000596536.1	+	26	2610	c.2327C>T	c.(2326-2328)cCc>cTc	p.P776L	FCHO1_ENST00000389133.4_Missense_Mutation_p.P776L|FCHO1_ENST00000252771.7_Missense_Mutation_p.P776L|FCHO1_ENST00000596951.1_Missense_Mutation_p.P776L|FCHO1_ENST00000600676.1_Missense_Mutation_p.P776L|FCHO1_ENST00000595033.1_Missense_Mutation_p.P726L|FCHO1_ENST00000539407.1_Missense_Mutation_p.P776L|FCHO1_ENST00000597512.1_Missense_Mutation_p.P783L|FCHO1_ENST00000594202.1_Missense_Mutation_p.P776L	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	776	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GGCTACCGGCCCGGTGCCACG	0.677											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000594202.1																			0				NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						c.(2326-2328)cCc>cTc		FCH domain only 1							88.0	86.0	87.0					19																	17895634		2203	4300	6503	SO:0001583	missense	23149							g.chr19:17895634C>T	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.2327C>T	19.37:g.17895634C>T	ENSP00000470731:p.Pro776Leu		OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	721	FCHO1_ENST00000600676.1_Missense_Mutation_p.P776L|FCHO1_ENST00000596536.1_Missense_Mutation_p.P776L|FCHO1_ENST00000539407.1_Missense_Mutation_p.P776L|FCHO1_ENST00000597512.1_Missense_Mutation_p.P783L|FCHO1_ENST00000389133.4_Missense_Mutation_p.P776L|FCHO1_ENST00000252771.7_Missense_Mutation_p.P776L|FCHO1_ENST00000596951.1_Missense_Mutation_p.P776L|FCHO1_ENST00000595033.1_Missense_Mutation_p.P726L	p.P776L	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN			26	2606	+			776					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.2327C>T	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526263	0.64860	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.53640	0.61;0.61;0.61	3.7	3.7	0.42460	Muniscin C-terminal mu homology domain (1);	0.213853	0.38720	N	0.001588	T	0.46386	0.1390	L	0.34521	1.04	0.54753	D	0.999981	P;P	0.47604	0.898;0.876	P;P	0.51974	0.686;0.559	T	0.43343	-0.9397	10	0.49607	T	0.09	-14.8727	11.1074	0.48212	0.0:1.0:0.0:0.0	.	776;776	O14526;O14526-2	FCHO1_HUMAN;.	L	776	ENSP00000252771:P776L;ENSP00000373785:P776L;ENSP00000437978:P776L	ENSP00000252771:P776L	P	+	2	0	FCHO1	17756634	0.904000	0.30761	0.612000	0.29024	0.776000	0.43924	3.846000	0.55888	2.091000	0.63221	0.491000	0.48974	CCC		0.677	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		33	94	0	0	0	1	0	33	94				
FLG	2312	broad.mit.edu	37	1	152282445	152282445	+	Silent	SNP	A	A	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:152282445A>G	ENST00000368799.1	-	3	4952	c.4917T>C	c.(4915-4917)gaT>gaC	p.D1639D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1639	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGGCTCTATCTTCTTGAT	0.557									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4915-4917)gaT>gaC		filaggrin							182.0	190.0	187.0					1																	152282445		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282445A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4917T>C	1.37:g.152282445A>G						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.D1639D	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4952	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1639			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.4917T>C	CCDS30860.1																																																																																				0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		175	382	0	0	0	1	0	175	382				
KNDC1	85442	broad.mit.edu	37	10	135027489	135027489	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr10:135027489G>A	ENST00000304613.3	+	26	4561	c.4540G>A	c.(4540-4542)Gag>Aag	p.E1514K	KNDC1_ENST00000368572.2_Missense_Mutation_p.E1516K			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1514	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGCTCTTCTGAGTCTCTTTC	0.557																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(4540-4542)Gag>Aag		kinase non-catalytic C-lobe domain (KIND) containing 1							132.0	115.0	121.0					10																	135027489		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135027489G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4540G>A	10.37:g.135027489G>A	ENSP00000304437:p.Glu1514Lys					KNDC1_ENST00000368572.2_Missense_Mutation_p.E1516K	p.E1514K			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	26	4561	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1514			Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.4540G>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364484	0.61513	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.12774	2.65;2.65	4.22	4.22	0.49857	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.906114	0.09366	N	0.812029	T	0.28830	0.0715	L	0.36672	1.1	0.30520	N	0.768541	D	0.69078	0.997	D	0.66979	0.948	T	0.15752	-1.0426	10	0.62326	D	0.03	-15.4062	14.4416	0.67321	0.0:0.0:1.0:0.0	.	1514	Q76NI1	VKIND_HUMAN	K	1514;1516	ENSP00000304437:E1514K;ENSP00000357561:E1516K	ENSP00000304437:E1514K	E	+	1	0	KNDC1	134877479	0.994000	0.37717	0.040000	0.18447	0.839000	0.47603	3.729000	0.54999	2.073000	0.62155	0.313000	0.20887	GAG		0.557	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		6	227	0	0	0	1	0	6	227				
PRAMEF12	390999	broad.mit.edu	37	1	12837499	12837499	+	Silent	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:12837499G>A	ENST00000357726.4	+	3	1236	c.1209G>A	c.(1207-1209)ctG>ctA	p.L403L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	403					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCGTCGGGCTGAGCAAGCTAA	0.607																																						ENST00000357726.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(1207-1209)ctG>ctA		PRAME family member 12							102.0	112.0	108.0					1																	12837499		2203	4300	6503	SO:0001819	synonymous_variant	390999							g.chr1:12837499G>A		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1209G>A	1.37:g.12837499G>A							p.L403L	NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1236	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	403						Silent	SNP	ENST00000357726.4	37	c.1209G>A	CCDS41254.1																																																																																				0.607	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		44	169	0	0	0	1	0	44	169				
CCDC50	152137	broad.mit.edu	37	3	191098615	191098615	+	Splice_Site	SNP	A	A	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:191098615A>C	ENST00000392455.3	+	8	1207		c.e8-1		CCDC50_ENST00000392456.3_Splice_Site	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50							cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TATTTTGTTTAGGAAATCGCT	0.368																																						ENST00000392455.3																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23						c.e8-1		coiled-coil domain containing 50							79.0	86.0	84.0					3																	191098615		2203	4299	6502	SO:0001630	splice_region_variant	152137					cytoplasm	protein binding	g.chr3:191098615A>C	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.610-1A>C	3.37:g.191098615A>C						CCDC50_ENST00000392456.3_Splice_Site		NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)	8	1207	+	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)							Q86VH7	Splice_Site	SNP	ENST00000392455.3	37		CCDS33913.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.941803	0.73557	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3663	0.55230	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC50	192581309	1.000000	0.71417	0.998000	0.56505	0.919000	0.55068	5.592000	0.67543	2.168000	0.68352	0.533000	0.62120	.		0.368	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1	NM_174908	Intron	12	82	0	0	0	1	0	12	82				
NEB	4703	broad.mit.edu	37	2	152496975	152496975	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:152496975G>A	ENST00000172853.10	-	61	8726	c.8579C>T	c.(8578-8580)aCc>aTc	p.T2860I	NEB_ENST00000397345.3_Missense_Mutation_p.T2860I|NEB_ENST00000427231.2_Missense_Mutation_p.T2860I|NEB_ENST00000604864.1_Missense_Mutation_p.T2860I|NEB_ENST00000409198.1_Missense_Mutation_p.T2860I|NEB_ENST00000603639.1_Missense_Mutation_p.T2860I			P20929	NEBU_HUMAN	nebulin	2860					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTGACTAAGGTCTGGCACTT	0.567																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(8578-8580)aCc>aTc		nebulin							270.0	273.0	272.0					2																	152496975		2109	4223	6332	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152496975G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8579C>T	2.37:g.152496975G>A	ENSP00000172853:p.Thr2860Ile					NEB_ENST00000397345.3_Missense_Mutation_p.T2860I|NEB_ENST00000603639.1_Missense_Mutation_p.T2860I|NEB_ENST00000604864.1_Missense_Mutation_p.T2860I|NEB_ENST00000172853.10_Missense_Mutation_p.T2860I|NEB_ENST00000409198.1_Missense_Mutation_p.T2860I	p.T2860I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	61	8781	-			2860					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.8579C>T		.	.	.	.	.	.	.	.	.	.	G	11.30	1.599128	0.28534	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	6.07	5.19	0.71726	.	1.048850	0.07408	N	0.891892	T	0.25494	0.0620	L	0.31294	0.92	0.23401	N	0.997757	B	0.10296	0.003	B	0.12156	0.007	T	0.04191	-1.0970	10	0.38643	T	0.18	.	9.4531	0.38739	0.0744:0.0:0.7467:0.1789	.	2860	P20929	NEBU_HUMAN	I	2860	ENSP00000386259:T2860I;ENSP00000380505:T2860I;ENSP00000416578:T2860I;ENSP00000172853:T2860I	ENSP00000172853:T2860I	T	-	2	0	NEB	152205221	0.540000	0.26410	0.690000	0.30148	0.886000	0.51366	1.490000	0.35573	2.885000	0.99019	0.655000	0.94253	ACC		0.567	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		6	399	0	0	0	1	0	6	399				
C17orf74	201243	broad.mit.edu	37	17	7330660	7330660	+	Silent	SNP	G	G	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:7330660G>T	ENST00000333870.3	+	3	1424	c.1350G>T	c.(1348-1350)cgG>cgT	p.R450R	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	450						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CACTCAGCCGGAATCCAGGGG	0.642																																						ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(1348-1350)cgG>cgT		chromosome 17 open reading frame 74							41.0	46.0	44.0					17																	7330660		2076	4198	6274	SO:0001819	synonymous_variant	201243					integral to membrane		g.chr17:7330660G>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.1350G>T	17.37:g.7330660G>T						C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	p.R450R	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	1424	+		Prostate(122;0.157)	450						Silent	SNP	ENST00000333870.3	37	c.1350G>T	CCDS42255.1																																																																																				0.642	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		34	33	1	0	4.23469e-30	1	4.60292e-30	34	33				
PTGFRN	5738	broad.mit.edu	37	1	117487663	117487663	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:117487663G>A	ENST00000393203.2	+	3	928	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	261	Ig-like C2-type 2.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CAACTGGCAGGAAATCCAAGA	0.562																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(781-783)Gaa>Aaa		prostaglandin F2 receptor inhibitor							33.0	37.0	36.0					1																	117487663		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117487663G>A	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.781G>A	1.37:g.117487663G>A	ENSP00000376899:p.Glu261Lys						p.E261K	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	3	928	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	261			Ig-like C2-type 2.		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.781G>A	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314518	0.23908	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.03035	4.07	5.49	5.49	0.81192	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.169660	0.53938	D	0.000055	T	0.01092	0.0036	L	0.28740	0.885	0.33014	D	0.527979	B	0.18166	0.026	B	0.20577	0.03	T	0.39187	-0.9626	10	0.06236	T	0.91	-23.6761	12.585	0.56412	0.0:0.167:0.833:0.0	.	261	Q9P2B2	FPRP_HUMAN	K	261;120	ENSP00000376899:E261K	ENSP00000376899:E261K	E	+	1	0	PTGFRN	117289186	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.946000	0.49050	2.591000	0.87537	0.561000	0.74099	GAA		0.562	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		7	34	0	0	0	1	0	7	34				
S100A12	6283	broad.mit.edu	37	1	153347014	153347014	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:153347014A>T	ENST00000368737.3	-	2	172	c.55T>A	c.(55-57)Tca>Aca	p.S19T		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	19	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokine secretion (GO:0050663)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|mast cell activation (GO:0045576)|monocyte chemotaxis (GO:0002548)|neutrophil chemotaxis (GO:0030593)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)|Olopatadine(DB00768)	TTCCGAACTGAGTATTGGTGG	0.463																																						ENST00000368737.3																			0				endometrium(1)|kidney(1)|skin(2)	4						c.(55-57)Tca>Aca		S100 calcium binding protein A12	Amlexanox(DB01025)						209.0	183.0	192.0					1																	153347014		2203	4300	6503	SO:0001583	missense	6283				defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	g.chr1:153347014A>T	BC070294	CCDS1037.1	1q21	2013-01-10	2006-09-11		ENSG00000163221	ENSG00000163221		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10489	protein-coding gene	gene with protein product		603112	"""S100 calcium-binding protein A12 (calgranulin C)"", ""S100 calcium binding protein A12 (calgranulin C)"""			8985590	Standard	NM_005621		Approved	p6, MRP6, CGRP, CAAF1, CAGC, ENRAGE	uc001fbr.1	P80511	OTTHUMG00000013127	ENST00000368737.3:c.55T>A	1.37:g.153347014A>T	ENSP00000357726:p.Ser19Thr						p.S19T	NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	172	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		19			EF-hand 1.		P83219|Q5SY66|Q7M4R1	Missense_Mutation	SNP	ENST00000368737.3	37	c.55T>A	CCDS1037.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230282	0.58777	.	.	ENSG00000163221	ENST00000368737;ENST00000368736	T	0.25414	1.8	4.76	4.76	0.60689	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.076955	0.53938	D	0.000060	T	0.36552	0.0971	.	.	.	0.33686	D	0.612764	D	0.89917	1.0	D	0.83275	0.996	T	0.32929	-0.9888	9	0.48119	T	0.1	.	10.8323	0.46667	1.0:0.0:0.0:0.0	.	19	P80511	S10AC_HUMAN	T	19;22	ENSP00000357726:S19T	ENSP00000357725:S22T	S	-	1	0	S100A12	151613638	1.000000	0.71417	0.994000	0.49952	0.470000	0.32858	4.462000	0.60121	2.115000	0.64714	0.533000	0.62120	TCA		0.463	S100A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036795.1	NM_005621		76	148	0	0	0	1	0	76	148				
NEB	4703	broad.mit.edu	37	2	152423811	152423811	+	Silent	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:152423811G>C	ENST00000172853.10	-	86	13071	c.12924C>G	c.(12922-12924)gtC>gtG	p.V4308V	NEB_ENST00000397345.3_Silent_p.V6009V|NEB_ENST00000427231.2_Silent_p.V6009V|NEB_ENST00000604864.1_Silent_p.V6009V|NEB_ENST00000409198.1_Silent_p.V4308V|NEB_ENST00000603639.1_Silent_p.V6009V			P20929	NEBU_HUMAN	nebulin	4308					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGCGGCCAAGACTGACACCA	0.443																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(18025-18027)gtC>gtG		nebulin							175.0	163.0	167.0					2																	152423811		1957	4153	6110	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152423811G>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.12924C>G	2.37:g.152423811G>C						NEB_ENST00000397345.3_Silent_p.V6009V|NEB_ENST00000603639.1_Silent_p.V6009V|NEB_ENST00000604864.1_Silent_p.V6009V|NEB_ENST00000172853.10_Silent_p.V4308V|NEB_ENST00000409198.1_Silent_p.V4308V	p.V6009V	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	114	18229	-			6026					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.18027C>G																																																																																					0.443	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		16	79	0	0	0	1	0	16	79				
GFRA1	2674	broad.mit.edu	37	10	118030416	118030416	+	Silent	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr10:118030416G>C	ENST00000355422.6	-	3	802	c.252C>G	c.(250-252)ctC>ctG	p.L84L	GFRA1_ENST00000369236.1_Silent_p.L84L|GFRA1_ENST00000439649.3_Silent_p.L84L|GFRA1_ENST00000490345.1_5'Flank	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	84					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GGCAGTTGTAGAGCGACTTCT	0.612																																					Ovarian(128;329 1725 45498 46808 50759)	ENST00000439649.3																			0				endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26						c.(250-252)ctC>ctG		GDNF family receptor alpha 1							71.0	71.0	71.0					10																	118030416		2203	4300	6503	SO:0001819	synonymous_variant	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:118030416G>C	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.252C>G	10.37:g.118030416G>C						GFRA1_ENST00000369236.1_Silent_p.L84L|GFRA1_ENST00000355422.6_Silent_p.L84L	p.L84L	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	3	619	-		Lung NSC(174;0.21)	84					A8KA21|O15507|O43912	Silent	SNP	ENST00000355422.6	37	c.252C>G	CCDS44481.1																																																																																				0.612	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		18	54	0	0	0	1	0	18	54				
DCAF12	25853	broad.mit.edu	37	9	34093292	34093292	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:34093292C>T	ENST00000361264.4	-	7	1357	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	339					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						ACCACTGCCTCGCTCCCTGGA	0.502																																						ENST00000361264.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						c.(1015-1017)cGa>cAa		DDB1 and CUL4 associated factor 12							144.0	123.0	130.0					9																	34093292		2203	4300	6503	SO:0001583	missense	25853					centrosome|CUL4 RING ubiquitin ligase complex		g.chr9:34093292C>T	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.1016G>A	9.37:g.34093292C>T	ENSP00000355114:p.Arg339Gln					RP11-537H15.3_ENST00000448245.1_RNA	p.R339Q	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN			7	1357	-			339					A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	ENST00000361264.4	37	c.1016G>A	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503537	0.44558	.	.	ENSG00000198876	ENST00000361264	T	0.62788	0.0	5.75	4.85	0.62838	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.124867	0.53938	N	0.000043	T	0.40932	0.1137	N	0.13043	0.29	0.49213	D	0.999762	B	0.19935	0.04	B	0.10450	0.005	T	0.23332	-1.0191	10	0.13108	T	0.6	-23.3755	10.767	0.46299	0.0:0.855:0.0:0.145	.	339	Q5T6F0	DCA12_HUMAN	Q	339	ENSP00000355114:R339Q	ENSP00000355114:R339Q	R	-	2	0	DCAF12	34083292	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.486000	0.66856	1.433000	0.47394	0.655000	0.94253	CGA		0.502	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2	NM_015397		13	85	0	0	0	1	0	13	85				
TXK	7294	broad.mit.edu	37	4	48081953	48081953	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:48081953C>T	ENST00000264316.4	-	11	1234	c.1149G>A	c.(1147-1149)agG>agA	p.R383R	TXK_ENST00000507351.1_Silent_p.R38R	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	383	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TATAGCCATTCCTCTCCAGAT	0.353																																						ENST00000264316.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						c.(1147-1149)agG>agA		TXK tyrosine kinase							180.0	175.0	177.0					4																	48081953		2203	4300	6503	SO:0001819	synonymous_variant	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48081953C>T	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1149G>A	4.37:g.48081953C>T						TXK_ENST00000507351.1_Silent_p.R38R	p.R383R	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN			11	1234	-			383			Protein kinase.		Q14220	Silent	SNP	ENST00000264316.4	37	c.1149G>A	CCDS3480.1																																																																																				0.353	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		24	99	0	0	0	1	0	24	99				
IFI16	3428	broad.mit.edu	37	1	158985713	158985713	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:158985713C>T	ENST00000295809.7	+	3	572	c.317C>T	c.(316-318)tCa>tTa	p.S106L	IFI16_ENST00000368131.4_Missense_Mutation_p.S106L|IFI16_ENST00000368132.3_Missense_Mutation_p.S106L|IFI16_ENST00000340979.6_Missense_Mutation_p.S106L|IFI16_ENST00000448393.2_Missense_Mutation_p.S106L|IFI16_ENST00000359709.3_Missense_Mutation_p.S106L|IFI16_ENST00000430894.2_Missense_Mutation_p.S110L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	106	Lys-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GATGCTACTTCACCTGCACCC	0.473																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(316-318)tCa>tTa		interferon, gamma-inducible protein 16							92.0	82.0	85.0					1																	158985713		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158985713C>T	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.317C>T	1.37:g.158985713C>T	ENSP00000295809:p.Ser106Leu					IFI16_ENST00000340979.6_Missense_Mutation_p.S106L|IFI16_ENST00000368132.3_Missense_Mutation_p.S106L|IFI16_ENST00000368131.4_Missense_Mutation_p.S106L|IFI16_ENST00000430894.2_Missense_Mutation_p.S110L|IFI16_ENST00000359709.3_Missense_Mutation_p.S106L|IFI16_ENST00000448393.2_Missense_Mutation_p.S106L	p.S106L			Q16666	IF16_HUMAN			3	572	+	all_hematologic(112;0.0429)		106			Lys-rich.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.317C>T		.	.	.	.	.	.	.	.	.	.	.	8.951	0.968221	0.18659	.	.	ENSG00000163565	ENST00000359709;ENST00000426592;ENST00000447473;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T;T;T;T	0.23950	3.54;1.88;2.19;3.58;3.59;3.59;3.59;3.54	2.71	-5.43	0.02632	.	.	.	.	.	T	0.02929	0.0087	N	0.22421	0.69	0.09310	N	1	B;B;B	0.34147	0.041;0.438;0.002	B;B;B	0.29663	0.015;0.105;0.003	T	0.08617	-1.0713	9	0.44086	T	0.13	.	1.1463	0.01776	0.1777:0.2415:0.3542:0.2265	.	110;106;106	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	L	106;106;106;106;106;106;106;110	ENSP00000352740:S106L;ENSP00000406406:S106L;ENSP00000407052:S106L;ENSP00000295809:S106L;ENSP00000342741:S106L;ENSP00000357113:S106L;ENSP00000357114:S106L;ENSP00000394935:S110L	ENSP00000295809:S106L	S	+	2	0	IFI16	157252337	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.351000	0.00248	-2.937000	0.00298	-0.448000	0.05591	TCA		0.473	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		6	64	0	0	0	1	0	6	64				
PRRC2A	7916	broad.mit.edu	37	6	31593840	31593840	+	Missense_Mutation	SNP	A	A	T	rs528285841		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:31593840A>T	ENST00000376033.2	+	9	1117	c.883A>T	c.(883-885)Atg>Ttg	p.M295L	SNORA38_ENST00000363946.1_RNA|PRRC2A_ENST00000376007.4_Missense_Mutation_p.M295L|PRRC2A_ENST00000469577.1_3'UTR	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	295	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGGGCCACCAATGCGCTTAGT	0.493																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(883-885)Atg>Ttg		proline-rich coiled-coil 2A							59.0	65.0	63.0					6																	31593840		1509	2708	4217	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31593840A>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.883A>T	6.37:g.31593840A>T	ENSP00000365201:p.Met295Leu					PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.M295L	p.M295L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			9	1117	+			295			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.883A>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.506391	0.26949	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.01516	4.81;4.81	4.96	3.8	0.43715	.	0.000000	0.64402	D	0.000008	T	0.00300	0.0009	N	0.02011	-0.69	0.25707	N	0.985523	B	0.12630	0.006	B	0.06405	0.002	T	0.50233	-0.8852	10	0.87932	D	0	-4.3931	4.0283	0.09697	0.6382:0.1807:0.1812:0.0	.	295	P48634	PRC2A_HUMAN	L	295	ENSP00000365175:M295L;ENSP00000365201:M295L	ENSP00000365175:M295L	M	+	1	0	PRRC2A	31701819	0.000000	0.05858	1.000000	0.80357	0.969000	0.65631	0.106000	0.15354	0.937000	0.37394	0.528000	0.53228	ATG		0.493	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		41	120	0	0	0	1	0	41	120				
PTPRZ1	5803	broad.mit.edu	37	7	121623770	121623770	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:121623770C>G	ENST00000393386.2	+	7	1082	c.671C>G	c.(670-672)tCa>tGa	p.S224*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.S224*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	224	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTGCCAAACTCAACTGACAAG	0.393																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(670-672)tCa>tGa		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							182.0	165.0	170.0					7																	121623770		2203	4300	6503	SO:0001587	stop_gained	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121623770C>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.671C>G	7.37:g.121623770C>G	ENSP00000377047:p.Ser224*					PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.S224*	p.S224*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			7	1082	+			224			Alpha-carbonic anhydrase.		A4D0W5|C9JFM0|O76043|Q9UDR6	Nonsense_Mutation	SNP	ENST00000393386.2	37	c.671C>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	37	6.007438	0.97195	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	.	.	.	5.62	4.73	0.59995	.	0.215286	0.31989	N	0.006743	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.7303	0.51732	0.1392:0.7269:0.1339:0.0	.	.	.	.	X	224	.	ENSP00000377047:S224X	S	+	2	0	PTPRZ1	121411006	0.265000	0.24102	1.000000	0.80357	0.986000	0.74619	1.223000	0.32527	1.493000	0.48517	0.543000	0.68304	TCA		0.393	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		19	164	0	0	0	1	0	19	164				
SULT1E1	6783	broad.mit.edu	37	4	70707744	70707744	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:70707744C>A	ENST00000226444.3	-	8	965	c.853G>T	c.(853-855)Gaa>Taa	p.E285*		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	285					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	AGTGTAGATTCCTTCATTTGC	0.308																																						ENST00000226444.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						c.(853-855)Gaa>Taa		sulfotransferase family 1E, estrogen-preferring, member 1							118.0	119.0	119.0					4																	70707744		2203	4299	6502	SO:0001587	stop_gained	6783				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	g.chr4:70707744C>A	BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"""Sulfotransferases, cytosolic"""	11377	protein-coding gene	gene with protein product		600043	"""sulfotransferase, estrogen-preferring"""	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.853G>T	4.37:g.70707744C>A	ENSP00000226444:p.Glu285*						p.E285*	NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN			8	965	-			285					Q8N6X5	Nonsense_Mutation	SNP	ENST00000226444.3	37	c.853G>T	CCDS3531.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950448	0.73787	.	.	ENSG00000109193	ENST00000226444	.	.	.	4.23	3.38	0.38709	.	0.389369	0.23536	N	0.047130	.	.	.	.	.	.	0.48395	D	0.999647	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	9.9983	0.41913	0.0:0.8996:0.0:0.1004	.	.	.	.	X	285	.	ENSP00000226444:E285X	E	-	1	0	SULT1E1	70742333	0.001000	0.12720	0.114000	0.21550	0.237000	0.25408	1.161000	0.31773	1.134000	0.42165	-0.225000	0.12378	GAA		0.308	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251559.1	NM_005420		27	39	1	0	2.44723e-14	1	2.60961e-14	27	39				
TAB1	10454	broad.mit.edu	37	22	39812816	39812816	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:39812816G>C	ENST00000216160.6	+	4	407	c.345G>C	c.(343-345)agG>agC	p.R115S	TAB1_ENST00000331454.3_Missense_Mutation_p.R115S	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	115	PP2C-like.				activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TGGTGGAGAGGAGCTTCCTGG	0.552																																						ENST00000216160.6																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						c.(343-345)agG>agC		TGF-beta activated kinase 1/MAP3K7 binding protein 1							117.0	104.0	108.0					22																	39812816		2203	4300	6503	SO:0001583	missense	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39812816G>C	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.345G>C	22.37:g.39812816G>C	ENSP00000216160:p.Arg115Ser					TAB1_ENST00000331454.3_Missense_Mutation_p.R115S	p.R115S	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN			4	407	+			115			PP2C-like.		Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	c.345G>C	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729483	0.48833	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.16196	2.36;2.36	5.36	3.28	0.37604	Protein phosphatase 2C-like (4);	0.053006	0.64402	D	0.000001	T	0.14141	0.0342	N	0.20986	0.625	0.53688	D	0.999977	D;P;P	0.52996	0.957;0.74;0.652	P;B;B	0.48114	0.567;0.211;0.21	T	0.03706	-1.1011	10	0.39692	T	0.17	.	8.5226	0.33285	0.3158:0.0:0.6842:0.0	.	115;115;259	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	S	115	ENSP00000216160:R115S;ENSP00000333049:R115S	ENSP00000216160:R115S	R	+	3	2	TAB1	38142762	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	4.674000	0.61612	0.751000	0.32900	-0.140000	0.14226	AGG		0.552	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		19	115	0	0	0	1	0	19	115				
PIGQ	9091	broad.mit.edu	37	16	630911	630911	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:630911C>T	ENST00000026218.5	+	9	1558	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	PIGQ_ENST00000409527.2_Silent_p.L490L|PIGQ_ENST00000321878.5_Silent_p.L490L	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	490	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TCGTGGACCTCATCAACTCCC	0.667																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1468-1470)ctC>ctT		phosphatidylinositol glycan anchor biosynthesis, class Q							139.0	131.0	133.0					16																	630911		2201	4300	6501	SO:0001819	synonymous_variant	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:630911C>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1470C>T	16.37:g.630911C>T						PIGQ_ENST00000409527.2_Silent_p.L490L|PIGQ_ENST00000026218.5_Silent_p.L490L	p.L490L	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			9	1629	+		Hepatocellular(780;0.00335)	490			Leu-rich.		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Silent	SNP	ENST00000026218.5	37	c.1470C>T	CCDS10411.1																																																																																				0.667	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		75	194	0	0	0	1	0	75	194				
DOCK11	139818	broad.mit.edu	37	X	117707860	117707860	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:117707860C>T	ENST00000276202.7	+	12	1331	c.1268C>T	c.(1267-1269)tCt>tTt	p.S423F	DOCK11_ENST00000276204.6_Missense_Mutation_p.S423F	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	423					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AATCCCCCATCTGTCCGTGAA	0.453																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(1267-1269)tCt>tTt		dedicator of cytokinesis 11							105.0	100.0	102.0					X																	117707860		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117707860C>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1268C>T	X.37:g.117707860C>T	ENSP00000276202:p.Ser423Phe					DOCK11_ENST00000276202.7_Missense_Mutation_p.S423F	p.S423F			Q5JSL3	DOC11_HUMAN			12	1342	+			423					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.1268C>T	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	8.415	0.844952	0.16963	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.03717	3.83;3.83	6.02	6.02	0.97574	.	0.206931	0.52532	D	0.000074	T	0.07458	0.0188	M	0.61703	1.905	0.28825	N	0.897458	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.003	T	0.05338	-1.0891	10	0.39692	T	0.17	0.0616	17.8874	0.88861	0.0:1.0:0.0:0.0	.	423;423	A6NIW2;Q5JSL3	.;DOC11_HUMAN	F	423	ENSP00000276204:S423F;ENSP00000276202:S423F	ENSP00000276202:S423F	S	+	2	0	DOCK11	117591888	0.000000	0.05858	0.994000	0.49952	0.993000	0.82548	0.338000	0.19858	2.549000	0.85964	0.600000	0.82982	TCT		0.453	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		135	57	0	0	0	1	0	135	57				
TP53	7157	broad.mit.edu	37	17	7578234	7578234	+	Nonsense_Mutation	SNP	A	A	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:7578234A>T	ENST00000269305.4	-	6	804	c.615T>A	c.(613-615)taT>taA	p.Y205*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Y205*|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.Y205*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Y205*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Y205*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Y205*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(5)|p.Y205*(4)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGTCATCCAAATACTCCACAC	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		19	Whole gene deletion(8)|Unknown(5)|Substitution - Nonsense(4)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.0?(8)|p.?(5)|p.Y205*(4)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)	biliary_tract(5)|bone(4)|central_nervous_system(2)|large_intestine(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|oesophagus(1)|ovary(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(613-615)taT>taA	Other conserved DNA damage response genes	tumor protein p53							137.0	122.0	127.0					17																	7578234		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578234A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.615T>A	17.37:g.7578234A>T	ENSP00000269305:p.Tyr205*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Nonsense_Mutation_p.Y205*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Y205*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Y205*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Y205*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Y205*|TP53_ENST00000574684.1_Intron	p.Y205*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	747	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	205		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.615T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.056281	0.55325	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	0.184	0.15086	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8058	8.5148	0.33239	0.5652:0.0:0.4348:0.0	.	.	.	.	X	205;205;205;205;205;205;194;112;73;112;73	.	ENSP00000269305:Y205X	Y	-	3	2	TP53	7518959	0.009000	0.17119	0.036000	0.18154	0.054000	0.15201	0.192000	0.17096	0.117000	0.18138	0.533000	0.62120	TAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	34	0	0	0	1	0	31	34				
MICALL2	79778	broad.mit.edu	37	7	1474275	1474275	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:1474275G>T	ENST00000297508.7	-	17	2847	c.2672C>A	c.(2671-2673)tCc>tAc	p.S891Y	MICALL2_ENST00000405088.4_Missense_Mutation_p.S679Y|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	891	Mediates interaction with RAB13 and is required for transition from the closed to the opened conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCAGATCTTGGACAAGCGGAA	0.632																																						ENST00000297508.7																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19						c.(2671-2673)tCc>tAc		MICAL-like 2							197.0	172.0	180.0					7																	1474275		2203	4300	6503	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1474275G>T	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2672C>A	7.37:g.1474275G>T	ENSP00000297508:p.Ser891Tyr					MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Missense_Mutation_p.S679Y	p.S891Y	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	17	2847	-		Ovarian(82;0.0253)	891					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.2672C>A	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228070	0.39399	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.72394	2.21;-0.65	2.97	2.97	0.34412	.	0.234365	0.22067	N	0.065099	T	0.73353	0.3576	L	0.34521	1.04	0.40365	D	0.979282	D	0.89917	1.0	D	0.65987	0.94	T	0.76849	-0.2807	10	0.87932	D	0	.	11.6588	0.51334	0.0:0.0:1.0:0.0	.	891	Q8IY33	MILK2_HUMAN	Y	679;891	ENSP00000385928:S679Y;ENSP00000297508:S891Y	ENSP00000297508:S891Y	S	-	2	0	MICALL2	1440801	0.264000	0.24093	0.994000	0.49952	0.428000	0.31595	2.328000	0.43867	1.959000	0.56917	0.462000	0.41574	TCC		0.632	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		24	149	1	0	3.17567e-06	1	3.32337e-06	24	149				
RGAG1	57529	broad.mit.edu	37	X	109695358	109695358	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:109695358C>G	ENST00000465301.2	+	3	1759	c.1513C>G	c.(1513-1515)Cca>Gca	p.P505A	RGAG1_ENST00000540313.1_Missense_Mutation_p.P505A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	505										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GAGGAGAGCTCCAACTTCTGG	0.512																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1513-1515)Cca>Gca		retrotransposon gag domain containing 1							157.0	143.0	148.0					X																	109695358		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109695358C>G	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1513C>G	X.37:g.109695358C>G	ENSP00000419786:p.Pro505Ala					RGAG1_ENST00000540313.1_Missense_Mutation_p.P505A	p.P505A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	1759	+			505					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.1513C>G	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	5.582	0.292226	0.10567	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.52983	0.64;0.64	4.27	-4.26	0.03755	.	1.400500	0.05155	N	0.496700	T	0.36635	0.0974	L	0.55481	1.735	0.09310	N	1	B	0.33171	0.4	B	0.30855	0.121	T	0.17776	-1.0358	9	.	.	.	0.1619	4.5257	0.11980	0.2443:0.2828:0.0:0.4728	.	505	Q8NET4	RGAG1_HUMAN	A	505	ENSP00000419786:P505A;ENSP00000441452:P505A	.	P	+	1	0	RGAG1	109582014	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.869000	0.04232	-1.248000	0.02503	-0.351000	0.07748	CCA		0.512	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		5	237	0	0	0	1	0	5	237				
NKD2	85409	broad.mit.edu	37	5	1034966	1034966	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:1034966C>T	ENST00000296849.5	+	7	751	c.522C>T	c.(520-522)acC>acT	p.T174T	NKD2_ENST00000537972.1_Silent_p.T174T|NKD2_ENST00000274150.4_Silent_p.T174T|NKD2_ENST00000382730.2_5'Flank	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	174	Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)	p.T174T(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			TGAAGCTAACCGTCAGCCCTG	0.617																																						ENST00000296849.5																			1	Substitution - coding silent(1)	p.T174T(1)	breast(1)	breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14						c.(520-522)acC>acT		naked cuticle homolog 2 (Drosophila)							65.0	50.0	55.0					5																	1034966		2200	4294	6494	SO:0001819	synonymous_variant	85409				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	g.chr5:1034966C>T	AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.522C>T	5.37:g.1034966C>T						NKD2_ENST00000537972.1_Silent_p.T174T|NKD2_ENST00000274150.4_Silent_p.T174T	p.T174T	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)		7	751	+	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		174			Interaction with DVL1, DVL2 and DVL3 (By similarity).		Q96EK8|Q9BSN0	Silent	SNP	ENST00000296849.5	37	c.522C>T	CCDS3859.1																																																																																				0.617	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206720.2	NM_033120		11	38	0	0	0	1	0	11	38				
SEC23B	10483	broad.mit.edu	37	20	18506492	18506492	+	Silent	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr20:18506492G>A	ENST00000336714.3	+	7	1182	c.750G>A	c.(748-750)caG>caA	p.Q250Q	SEC23B_ENST00000262544.2_Silent_p.Q250Q|SEC23B_ENST00000377465.1_Silent_p.Q250Q|SEC23B_ENST00000377475.3_Silent_p.Q250Q	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	250					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GGGAGCTACAGAGGGACCCAT	0.448																																						ENST00000336714.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(748-750)caG>caA		Sec23 homolog B (S. cerevisiae)							114.0	110.0	112.0					20																	18506492		2203	4300	6503	SO:0001819	synonymous_variant	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18506492G>A	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.750G>A	20.37:g.18506492G>A						SEC23B_ENST00000377475.3_Silent_p.Q250Q|SEC23B_ENST00000377465.1_Silent_p.Q250Q|SEC23B_ENST00000262544.2_Silent_p.Q250Q	p.Q250Q	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN			7	1182	+			250					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Silent	SNP	ENST00000336714.3	37	c.750G>A	CCDS13137.1																																																																																				0.448	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			9	154	0	0	0	1	0	9	154				
C1orf53	388722	broad.mit.edu	37	1	197874930	197874930	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:197874930G>A	ENST00000367393.3	+	2	272	c.269G>A	c.(268-270)gGc>gAc	p.G90D	C1orf53_ENST00000542800.1_3'UTR	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN	chromosome 1 open reading frame 53	90								p.G90D(2)		endometrium(1)|lung(1)	2						CTTCAGGCTGGCCAGCTAAAC	0.398																																						ENST00000367393.3																			2	Substitution - Missense(2)	p.G90D(2)	endometrium(2)	endometrium(1)|lung(1)	2						c.(268-270)gGc>gAc		chromosome 1 open reading frame 53							141.0	132.0	135.0					1																	197874930		1964	4161	6125	SO:0001583	missense	388722							g.chr1:197874930G>A	BC038214	CCDS44290.1	1q31.3	2011-01-26			ENSG00000203724	ENSG00000203724			30003	protein-coding gene	gene with protein product						15897902	Standard	NM_001024594		Approved		uc001guh.3	Q5VUE5	OTTHUMG00000035659	ENST00000367393.3:c.269G>A	1.37:g.197874930G>A	ENSP00000356363:p.Gly90Asp					C1orf53_ENST00000542800.1_3'UTR	p.G90D	NM_001024594.2	NP_001019765.1	Q5VUE5	CA053_HUMAN			2	272	+			90					A1L4N2|Q5VUE4	Missense_Mutation	SNP	ENST00000367393.3	37	c.269G>A	CCDS44290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.27|19.27	3.795853|3.795853	0.70452|0.70452	.|.	.|.	ENSG00000203724|ENSG00000203724	ENST00000367393|ENST00000436652	.|.	.|.	.|.	5.43|5.43	4.52|4.52	0.55395|0.55395	.|.	0.097339|.	0.41294|.	U|.	0.000917|.	T|.	0.73916|.	0.3648|.	M|M	0.79614|0.79614	2.46|2.46	0.44295|0.44295	D|D	0.997168|0.997168	D|.	0.76494|.	0.999|.	D|.	0.64595|.	0.927|.	T|.	0.75291|.	-0.3369|.	9|.	0.66056|.	D|.	0.02|.	-17.2131|-17.2131	12.9758|12.9758	0.58537|0.58537	0.0789:0.0:0.9211:0.0|0.0789:0.0:0.9211:0.0	.|.	90|.	Q5VUE5|.	CA053_HUMAN|.	D|X	90|26	.|.	ENSP00000356363:G90D|.	G|W	+|+	2|3	0|0	C1orf53|C1orf53	196141553|196141553	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	3.795000|3.795000	0.55499|0.55499	1.408000|1.408000	0.46895|0.46895	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.398	C1orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086555.1	NM_001024594		5	164	0	0	0	1	0	5	164				
ZC3H6	376940	broad.mit.edu	37	2	113082071	113082071	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:113082071G>A	ENST00000409871.1	+	10	2084	c.1683G>A	c.(1681-1683)atG>atA	p.M561I	ZC3H6_ENST00000343936.4_Missense_Mutation_p.M561I	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	561							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GACATGTGATGAAAGTACCCA	0.483																																						ENST00000409871.1																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						c.(1681-1683)atG>atA		zinc finger CCCH-type containing 6							34.0	32.0	33.0					2																	113082071		1910	4114	6024	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113082071G>A	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.1683G>A	2.37:g.113082071G>A	ENSP00000386764:p.Met561Ile					ZC3H6_ENST00000343936.4_Missense_Mutation_p.M561I	p.M561I	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN			10	2084	+			561					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.1683G>A	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321123	0.23994	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.13538	2.58;2.58	5.49	4.62	0.57501	.	0.522580	0.23900	N	0.043441	T	0.10078	0.0247	L	0.50333	1.59	0.25298	N	0.989309	B	0.22480	0.07	B	0.15870	0.014	T	0.39461	-0.9613	10	0.05525	T	0.97	-0.227	7.2753	0.26281	0.1484:0.1398:0.7118:0.0	.	561	P61129	ZC3H6_HUMAN	I	561;561;538	ENSP00000386764:M561I;ENSP00000340298:M561I	ENSP00000340298:M561I	M	+	3	0	ZC3H6	112798542	1.000000	0.71417	0.331000	0.25455	0.991000	0.79684	1.931000	0.40134	1.320000	0.45209	0.591000	0.81541	ATG		0.483	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		10	28	0	0	0	1	0	10	28				
ZNF92	168374	broad.mit.edu	37	7	64853793	64853793	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:64853793G>C	ENST00000328747.7	+	3	404	c.205G>C	c.(205-207)Gag>Cag	p.E69Q	ZNF92_ENST00000357512.2_Intron|ZNF92_ENST00000450302.2_5'UTR|ZNF92_ENST00000431504.1_Intron	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				GAAGAGACATGAGATGGTAGA	0.408																																						ENST00000328747.7																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13						c.(205-207)Gag>Cag		zinc finger protein 92							104.0	109.0	107.0					7																	64853793		2203	4300	6503	SO:0001583	missense	168374					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64853793G>C	M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"""Zinc fingers, C2H2-type"", ""-"""	13168	protein-coding gene	gene with protein product		603974	"""zinc finger protein 92 (HTF12)"""			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.205G>C	7.37:g.64853793G>C	ENSP00000332595:p.Glu69Gln					ZNF92_ENST00000450302.2_5'UTR|ZNF92_ENST00000431504.1_Intron|ZNF92_ENST00000357512.2_Intron	p.E69Q	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN			3	404	+		Lung NSC(55;0.159)	69			KRAB.		A6NNF9|Q8N492|Q8NB35	Missense_Mutation	SNP	ENST00000328747.7	37	c.205G>C	CCDS34646.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254218	0.22965	.	.	ENSG00000146757	ENST00000328747	T	0.05139	3.49	0.593	-0.444	0.12245	Krueppel-associated box (1);	.	.	.	.	T	0.06325	0.0163	L	0.49126	1.545	0.09310	N	1	B	0.32101	0.356	B	0.33890	0.172	T	0.37314	-0.9711	9	0.33940	T	0.23	.	4.8625	0.13590	0.2686:0.0:0.7314:0.0	.	69	Q03936	ZNF92_HUMAN	Q	69	ENSP00000332595:E69Q	ENSP00000332595:E69Q	E	+	1	0	ZNF92	64491228	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.201000	0.09464	-0.242000	0.09667	-0.237000	0.12165	GAG		0.408	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626		7	229	0	0	0	1	0	7	229				
RASIP1	54922	broad.mit.edu	37	19	49228160	49228160	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:49228160C>G	ENST00000222145.4	-	9	2389	c.2185G>C	c.(2185-2187)Gag>Cag	p.E729Q		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	729	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCCGGCAGCTCTGCACCAGCT	0.572																																						ENST00000222145.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21						c.(2185-2187)Gag>Cag		Ras interacting protein 1							48.0	54.0	52.0					19																	49228160		2203	4300	6503	SO:0001583	missense	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49228160C>G	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2185G>C	19.37:g.49228160C>G	ENSP00000222145:p.Glu729Gln						p.E729Q	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	9	2389	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	729			Dilute.		Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	c.2185G>C	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526852	0.44969	.	.	ENSG00000105538	ENST00000222145	T	0.22945	1.93	4.74	4.74	0.60224	Dilute (1);	0.458829	0.19855	N	0.104544	T	0.20577	0.0495	L	0.34521	1.04	0.29988	N	0.817101	B	0.29862	0.259	B	0.25884	0.064	T	0.06789	-1.0807	10	0.30854	T	0.27	-4.9769	15.6622	0.77197	0.0:1.0:0.0:0.0	.	729	Q5U651	RAIN_HUMAN	Q	729	ENSP00000222145:E729Q	ENSP00000222145:E729Q	E	-	1	0	RASIP1	53919972	0.999000	0.42202	0.999000	0.59377	0.977000	0.68977	3.727000	0.54984	2.384000	0.81235	0.650000	0.86243	GAG		0.572	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		19	125	0	0	0	1	0	19	125				
RELT	84957	broad.mit.edu	37	11	73101946	73101946	+	Silent	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:73101946C>G	ENST00000064780.2	+	4	528	c.267C>G	c.(265-267)ctC>ctG	p.L89L	RELT_ENST00000393580.2_Silent_p.L89L	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	89						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GAGATACACTCTGTGGAGACT	0.642																																						ENST00000064780.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(265-267)ctC>ctG		RELT tumor necrosis factor receptor							52.0	55.0	54.0					11																	73101946		2200	4293	6493	SO:0001819	synonymous_variant	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73101946C>G	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.267C>G	11.37:g.73101946C>G						RELT_ENST00000393580.2_Silent_p.L89L	p.L89L	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN			4	528	+			89					Q86V34|Q96JU1|Q9BUX7	Silent	SNP	ENST00000064780.2	37	c.267C>G	CCDS8222.1																																																																																				0.642	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871		24	50	0	0	0	1	0	24	50				
USH2A	7399	broad.mit.edu	37	1	215901581	215901581	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:215901581T>A	ENST00000307340.3	-	61	12243	c.11857A>T	c.(11857-11859)Agt>Tgt	p.S3953C	USH2A_ENST00000366943.2_Missense_Mutation_p.S3953C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3953	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACCACAGACTCTCCACTGAA	0.488										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(11857-11859)Agt>Tgt		Usher syndrome 2A (autosomal recessive, mild)							102.0	100.0	101.0					1																	215901581		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215901581T>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11857A>T	1.37:g.215901581T>A	ENSP00000305941:p.Ser3953Cys	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.S3953C	p.S3953C			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	61	12243	-			3953			Fibronectin type-III 24.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.11857A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	16.95	3.264257	0.59431	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.63744	-0.06;-0.06	5.53	5.53	0.82687	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000083	D	0.83184	0.5199	M	0.91196	3.185	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	D	0.87319	0.2317	10	0.87932	D	0	.	15.6565	0.77140	0.0:0.0:0.0:1.0	.	3953	O75445	USH2A_HUMAN	C	3953	ENSP00000305941:S3953C;ENSP00000355910:S3953C	ENSP00000305941:S3953C	S	-	1	0	USH2A	213968204	1.000000	0.71417	0.541000	0.28102	0.037000	0.13140	5.957000	0.70323	2.085000	0.62840	0.482000	0.46254	AGT		0.488	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		23	88	0	0	0	1	0	23	88				
PRPF8	10594	broad.mit.edu	37	17	1586992	1586992	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:1586992C>G	ENST00000572621.1	-	2	369	c.104G>C	c.(103-105)cGa>cCa	p.R35P	PRPF8_ENST00000304992.6_Missense_Mutation_p.R35P			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	35					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTGCCATTTTCGAGCTGGAAA	0.537																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(103-105)cGa>cCa		pre-mRNA processing factor 8							104.0	90.0	95.0					17																	1586992		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1586992C>G	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.104G>C	17.37:g.1586992C>G	ENSP00000460348:p.Arg35Pro					PRPF8_ENST00000304992.6_Missense_Mutation_p.R35P	p.R35P			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	2	369	-			35					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.104G>C	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732411	0.89482	.	.	ENSG00000174231	ENST00000304992	D	0.81739	-1.53	5.41	5.41	0.78517	Pre-mRNA-processing-splicing factor 8 (1);	0.000000	0.85682	D	0.000000	D	0.82346	0.5017	M	0.64997	1.995	0.80722	D	1	P	0.37663	0.604	B	0.41036	0.346	D	0.83705	0.0184	10	0.62326	D	0.03	.	19.1993	0.93704	0.0:1.0:0.0:0.0	.	35	Q6P2Q9	PRP8_HUMAN	P	35	ENSP00000304350:R35P	ENSP00000304350:R35P	R	-	2	0	PRPF8	1533742	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	7.260000	0.78391	2.534000	0.85438	0.467000	0.42956	CGA		0.537	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			4	72	0	0	0	1	0	4	72				
CCDC101	112869	broad.mit.edu	37	16	28600485	28600485	+	Splice_Site	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:28600485G>C	ENST00000317058.3	+	5	476	c.289G>C	c.(289-291)Gcg>Ccg	p.A97P		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	97					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						GAGGCGGATTGGTGAGTGGGA	0.587																																						ENST00000317058.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						c.e5+1		coiled-coil domain containing 101							167.0	167.0	167.0					16																	28600485		2197	4300	6497	SO:0001630	splice_region_variant	112869				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding	g.chr16:28600485G>C	AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"""SAGA-associated factor 29 homolog (yeast)"""	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.289+1G>C	16.37:g.28600485G>C							p.A97_splice	NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN			5	476	+			97					Q96MF5	Splice_Site	SNP	ENST00000317058.3	37	c.289_splice	CCDS10635.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940834	0.34283	.	.	ENSG00000176476	ENST00000317058	.	.	.	5.31	5.31	0.75309	.	0.057468	0.64402	D	0.000002	T	0.50667	0.1629	L	0.42245	1.32	0.80722	D	1	D	0.54397	0.966	P	0.47299	0.543	T	0.44143	-0.9347	9	0.31617	T	0.26	.	14.821	0.70074	0.0:0.0:1.0:0.0	.	97	Q96ES7	SGF29_HUMAN	P	97	.	ENSP00000316114:A97P	A	+	1	0	CCDC101	28507986	1.000000	0.71417	0.999000	0.59377	0.477000	0.33069	8.024000	0.88770	2.651000	0.90000	0.563000	0.77884	GCG		0.587	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	NM_138414	Missense_Mutation	35	217	0	0	0	1	0	35	217				
ETNK1	55500	broad.mit.edu	37	12	22826466	22826466	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:22826466G>C	ENST00000266517.4	+	6	1173	c.1084G>C	c.(1084-1086)Gat>Cat	p.D362H		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	362					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCTGTATCCAGATAGAGAACT	0.363																																					Esophageal Squamous(42;87 913 3224 6226 43339)	ENST00000266517.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1084-1086)Gat>Cat		ethanolamine kinase 1							88.0	89.0	89.0					12																	22826466		2203	4300	6503	SO:0001583	missense	55500				phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	g.chr12:22826466G>C	BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.1084G>C	12.37:g.22826466G>C	ENSP00000266517:p.Asp362His						p.D362H	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN			6	1173	+			362					G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	c.1084G>C	CCDS8698.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.37|15.37	2.812116|2.812116	0.50527|0.50527	.|.	.|.	ENSG00000139163|ENSG00000139163	ENST00000266517;ENST00000381409|ENST00000538218	T|.	0.58797|.	0.31|.	5.13|5.13	3.28|3.28	0.37604|0.37604	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);|.	0.370580|.	0.29653|.	N|.	0.011547|.	T|T	0.65375|0.65375	0.2685|0.2685	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	P;P|.	0.49358|.	0.783;0.923|.	P;P|.	0.53954|.	0.617;0.738|.	T|T	0.64368|0.64368	-0.6424|-0.6424	10|5	0.49607|.	T|.	0.09|.	-4.7687|-4.7687	7.1056|7.1056	0.25362|0.25362	0.3218:0.0:0.6782:0.0|0.3218:0.0:0.6782:0.0	.|.	362;362|.	E9PD44;Q9HBU6|.	.;EKI1_HUMAN|.	H|H	362|352	ENSP00000266517:D362H|.	ENSP00000266517:D362H|.	D|Q	+|+	1|3	0|2	ETNK1|ETNK1	22717733|22717733	0.768000|0.768000	0.28519|0.28519	0.945000|0.945000	0.38365|0.38365	0.892000|0.892000	0.51952|0.51952	1.679000|1.679000	0.37597|0.37597	1.154000|1.154000	0.42482|0.42482	0.585000|0.585000	0.79938|0.79938	GAT|CAG		0.363	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638		17	171	0	0	0	1	0	17	171				
GABRE	2564	broad.mit.edu	37	X	151123413	151123413	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:151123413C>G	ENST00000370328.3	-	9	1334	c.1281G>C	c.(1279-1281)caG>caC	p.Q427H	GABRE_ENST00000370325.1_3'UTR|AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	427					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGCTAGGGGGCTGCTGGGCTG	0.607																																						ENST00000370328.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(1279-1281)caG>caC		gamma-aminobutyric acid (GABA) A receptor, epsilon							32.0	29.0	30.0					X																	151123413		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151123413C>G	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1281G>C	X.37:g.151123413C>G	ENSP00000359353:p.Gln427His					GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	p.Q427H	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN			9	1334	-	Acute lymphoblastic leukemia(192;6.56e-05)		427					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.1281G>C	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988865	0.35131	.	.	ENSG00000102287	ENST00000370328	D	0.86030	-2.06	3.9	-1.42	0.08913	Neurotransmitter-gated ion-channel transmembrane domain (2);	4.570250	0.00447	N	0.000092	T	0.79399	0.4439	L	0.27053	0.805	0.09310	N	1	P	0.42941	0.794	P	0.49140	0.601	T	0.64799	-0.6322	10	0.23891	T	0.37	.	1.0402	0.01557	0.169:0.2878:0.3236:0.2196	.	427	P78334	GBRE_HUMAN	H	427	ENSP00000359353:Q427H	ENSP00000359353:Q427H	Q	-	3	2	GABRE	150874069	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.082000	0.14847	-0.475000	0.06852	0.600000	0.82982	CAG		0.607	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		15	6	0	0	0	1	0	15	6				
SCN4A	6329	broad.mit.edu	37	17	62018476	62018476	+	Silent	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:62018476G>C	ENST00000435607.1	-	24	5242	c.5166C>G	c.(5164-5166)ctC>ctG	p.L1722L	SCN4A_ENST00000578147.1_Silent_p.L1722L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1722					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTTCCTCTTGAGGGTGGTGG	0.602																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(5164-5166)ctC>ctG		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						128.0	126.0	127.0					17																	62018476		2104	4224	6328	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018476G>C	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.5166C>G	17.37:g.62018476G>C						SCN4A_ENST00000435607.1_Silent_p.L1722L	p.L1722L			P35499	SCN4A_HUMAN			24	5242	-			1722					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.5166C>G	CCDS45761.1																																																																																				0.602	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		23	136	0	0	0	1	0	23	136				
LY96	23643	broad.mit.edu	37	8	74941282	74941282	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr8:74941282C>G	ENST00000284818.2	+	5	567	c.476C>G	c.(475-477)tCa>tGa	p.S159*	LY96_ENST00000518893.1_Nonsense_Mutation_p.S129*	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	159					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			CAACCTAATTCAAATTAGAAT	0.323																																					GBM(131;1357 1748 34893 50149 52212)	ENST00000284818.2																			0				endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(475-477)tCa>tGa		lymphocyte antigen 96							59.0	59.0	59.0					8																	74941282		2201	4299	6500	SO:0001587	stop_gained	23643				cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	g.chr8:74941282C>G	AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.476C>G	8.37:g.74941282C>G	ENSP00000284818:p.Ser159*					LY96_ENST00000518893.1_Nonsense_Mutation_p.S129*	p.S159*	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)		5	567	+	Breast(64;0.0311)		159					B3Y6A5|E5RJJ7	Nonsense_Mutation	SNP	ENST00000284818.2	37	c.476C>G	CCDS6216.1	.	.	.	.	.	.	.	.	.	.	C	7.637	0.680051	0.14907	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	.	.	.	3.7	0.104	0.14531	.	1.799640	0.02631	N	0.104310	.	.	.	.	.	.	0.23287	N	0.997971	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	5.8154	0.18490	0.0:0.3795:0.0:0.6205	.	.	.	.	X	159;129	.	ENSP00000284818:S159X	S	+	2	0	LY96	75103836	0.000000	0.05858	0.003000	0.11579	0.045000	0.14185	-0.091000	0.11146	0.006000	0.14734	-0.302000	0.09304	TCA		0.323	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	NM_015364		17	104	0	0	0	1	0	17	104				
SLC25A14	9016	broad.mit.edu	37	X	129499634	129499634	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:129499634T>C	ENST00000218197.5	+	8	1066	c.839T>C	c.(838-840)gTt>gCt	p.V280A	SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Missense_Mutation_p.V277A|SLC25A14_ENST00000339231.3_Missense_Mutation_p.V308A|SLC25A14_ENST00000543953.1_3'UTR	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	280					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AAGGGCACTGTTGATGGTATT	0.443																																						ENST00000218197.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						c.(838-840)gTt>gCt		solute carrier family 25 (mitochondrial carrier, brain), member 14							281.0	257.0	265.0					X																	129499634		2203	4300	6503	SO:0001583	missense	9016				aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	g.chrX:129499634T>C	AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.839T>C	X.37:g.129499634T>C	ENSP00000218197:p.Val280Ala					SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Missense_Mutation_p.V277A|SLC25A14_ENST00000543953.1_3'UTR|SLC25A14_ENST00000339231.3_Missense_Mutation_p.V308A	p.V280A	NM_003951.2|NM_022810.1	NP_003942.1|NP_073721.1	O95258	UCP5_HUMAN			8	1066	+			280					D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Missense_Mutation	SNP	ENST00000218197.5	37	c.839T>C	CCDS14623.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.310085	0.23821	.	.	ENSG00000102078	ENST00000218197;ENST00000361980;ENST00000339231	T;T;T	0.79554	-1.28;-1.28;-1.28	5.06	3.87	0.44632	Mitochondrial carrier domain (2);	0.345653	0.28006	N	0.016962	T	0.70622	0.3245	L	0.33668	1.02	0.80722	D	1	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.14023	0.009;0.006;0.01	T	0.64728	-0.6339	10	0.54805	T	0.06	-5.3978	10.2664	0.43457	0.0:0.0:0.1641:0.8359	.	308;277;280	O95258-3;O95258-2;O95258	.;.;UCP5_HUMAN	A	280;277;308	ENSP00000218197:V280A;ENSP00000354455:V277A;ENSP00000342797:V308A	ENSP00000218197:V280A	V	+	2	0	SLC25A14	129327315	1.000000	0.71417	0.885000	0.34714	0.206000	0.24218	7.103000	0.77014	0.731000	0.32448	0.481000	0.45027	GTT		0.443	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951		17	229	0	0	0	1	0	17	229				
PDE4DIP	9659	broad.mit.edu	37	1	144931530	144931530	+	Intron	SNP	C	C	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:144931530C>A	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000529945.1_Missense_Mutation_p.R60L|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R60L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCGATAGATTCGATCAAGCAT	0.507			T	PDGFRB	MPD																																	ENST00000529945.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(178-180)cGa>cTa		phosphodiesterase 4D interacting protein							108.0	111.0	110.0					1																	144931530		2203	4300	6503	SO:0001627	intron_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144931530C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7709G>T	1.37:g.144931530C>A						PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R60L|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000530740.1_Intron	p.R60L			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	618	-			0					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.179G>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154198	0.78114	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.21734	1.99;2.01	5.3	5.3	0.74995	.	.	.	.	.	T	0.39200	0.1069	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.28267	-1.0049	9	0.87932	D	0	.	16.4368	0.83878	0.0:1.0:0.0:0.0	.	60	Q5VU43-2	.	L	60	ENSP00000316434:R60L;ENSP00000433392:R60L	ENSP00000316434:R60L	R	-	2	0	PDE4DIP	143642887	1.000000	0.71417	0.999000	0.59377	0.531000	0.34715	7.818000	0.86416	2.467000	0.83353	0.462000	0.41574	CGA		0.507	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		17	126	1	0	3.52763e-06	1	3.67462e-06	17	126				
RPS26	6231	broad.mit.edu	37	12	56436379	56436379	+	Silent	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:56436379C>G	ENST00000356464.5	+	2	488	c.174C>G	c.(172-174)gtC>gtG	p.V58V	RPS26_ENST00000552361.1_Silent_p.V58V|RP11-603J24.4_ENST00000551846.1_RNA			P62854	RS26_HUMAN	ribosomal protein S26	58					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|small ribosomal subunit (GO:0015935)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAGCGAGCGTCTTCGATGGTA	0.537																																						ENST00000356464.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						c.(172-174)gtC>gtG		ribosomal protein S26							33.0	37.0	36.0					12																	56436379		2010	3967	5977	SO:0001819	synonymous_variant	6231				endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|protein binding|structural constituent of ribosome	g.chr12:56436379C>G	AB007160	CCDS31832.1	12q13	2011-04-06				ENSG00000197728		"""S ribosomal proteins"""	10414	protein-coding gene	gene with protein product	"""40S ribosomal protein S26"""	603701				9582194, 8670309	Standard	NM_001029		Approved	S26	uc001sjf.3	P62854	OTTHUMG00000170139	ENST00000356464.5:c.174C>G	12.37:g.56436379C>G						RPS26_ENST00000552361.1_Silent_p.V58V	p.V58V			P62854	RS26_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		2	488	+			58					P02383|P70394|Q06722|Q3MHD8|Q6IRY4	Silent	SNP	ENST00000356464.5	37	c.174C>G	CCDS31832.1																																																																																				0.537	RPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407616.1	NM_001029		28	72	0	0	0	1	0	28	72				
DNAJB11	51726	broad.mit.edu	37	3	186302363	186302363	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:186302363G>A	ENST00000439351.1	+	10	1926	c.997G>A	c.(997-999)Gag>Aag	p.E333K	DNAJB11_ENST00000265028.3_Missense_Mutation_p.E333K			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	333					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		ACAGTTAACAGAGGAAGCGAG	0.413																																						ENST00000439351.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15						c.(997-999)Gag>Aag		DnaJ (Hsp40) homolog, subfamily B, member 11							95.0	89.0	91.0					3																	186302363		2203	4300	6503	SO:0001583	missense	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186302363G>A	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.997G>A	3.37:g.186302363G>A	ENSP00000414398:p.Glu333Lys					DNAJB11_ENST00000265028.3_Missense_Mutation_p.E333K	p.E333K			Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	10	1926	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		333					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	c.997G>A	CCDS3277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.214352|3.214352	0.58452|0.58452	.|.	.|.	ENSG00000090520|ENSG00000090520	ENST00000439351;ENST00000265028|ENST00000418776	T;T|.	0.42513|.	0.97;0.97|.	5.76|5.76	4.87|4.87	0.63330|0.63330	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);|.	0.354031|.	0.34750|.	N|.	0.003704|.	T|T	0.60779|0.60779	0.2295|0.2295	L|L	0.60012|0.60012	1.86|1.86	0.80722|0.80722	D|D	1|1	B|.	0.26318|.	0.146|.	B|.	0.35353|.	0.201|.	T|T	0.59506|0.59506	-0.7442|-0.7442	10|5	0.25106|.	T|.	0.35|.	-20.6267|-20.6267	8.3196|8.3196	0.32121|0.32121	0.0823:0.1579:0.7598:0.0|0.0823:0.1579:0.7598:0.0	.|.	333|.	Q9UBS4|.	DJB11_HUMAN|.	K|K	333|133	ENSP00000414398:E333K;ENSP00000265028:E333K|.	ENSP00000265028:E333K|.	E|R	+|+	1|2	0|0	DNAJB11|DNAJB11	187785057|187785057	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	2.781000|2.781000	0.47750|0.47750	1.407000|1.407000	0.46875|0.46875	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.413	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			5	150	0	0	0	1	0	5	150				
TMEM192	201931	broad.mit.edu	37	4	166021940	166021940	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:166021940C>G	ENST00000306480.6	-	3	424	c.279G>C	c.(277-279)caG>caC	p.Q93H	TMEM192_ENST00000506087.1_Missense_Mutation_p.Q89H	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	93						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		TTATAACCGTCTGAACTTTCA	0.378																																						ENST00000306480.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(277-279)caG>caC		transmembrane protein 192							127.0	126.0	126.0					4																	166021940		1863	4103	5966	SO:0001583	missense	201931					Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus		g.chr4:166021940C>G	BC036301	CCDS43279.1	4q32.3	2008-04-22			ENSG00000170088	ENSG00000170088			26775	protein-coding gene	gene with protein product						12477932	Standard	NM_001100389		Approved	FLJ38482	uc003iqz.4	Q8IY95	OTTHUMG00000161254	ENST00000306480.6:c.279G>C	4.37:g.166021940C>G	ENSP00000305069:p.Gln93His					TMEM192_ENST00000506087.1_Missense_Mutation_p.Q89H	p.Q93H	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN		GBM - Glioblastoma multiforme(119;0.0926)	3	424	-	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	93					Q7Z3A1|Q8N928	Missense_Mutation	SNP	ENST00000306480.6	37	c.279G>C	CCDS43279.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313356	0.60414	.	.	ENSG00000170088	ENST00000306480;ENST00000506087	.	.	.	5.31	4.47	0.54385	.	0.317188	0.40469	N	0.001098	T	0.70413	0.3221	M	0.72479	2.2	0.36156	D	0.847792	D	0.76494	0.999	D	0.70935	0.971	T	0.72950	-0.4136	9	0.15952	T	0.53	-15.8945	12.9095	0.58173	0.0:0.9219:0.0:0.0781	.	93	Q8IY95	TM192_HUMAN	H	93;89	.	ENSP00000305069:Q93H	Q	-	3	2	TMEM192	166241390	1.000000	0.71417	0.998000	0.56505	0.848000	0.48234	0.476000	0.22180	1.377000	0.46286	0.491000	0.48974	CAG		0.378	TMEM192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364310.3	NM_152681		4	153	0	0	0	1	0	4	153				
KCNQ4	9132	broad.mit.edu	37	1	41303341	41303341	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:41303341G>A	ENST00000347132.5	+	13	1832	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	KCNQ4_ENST00000509682.2_Missense_Mutation_p.D530N|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	584	A-domain (Tetramerization).				inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	CCTTAGGGTGGACCAAATTGT	0.622																																						ENST00000347132.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.(1750-1752)Gac>Aac		potassium voltage-gated channel, KQT-like subfamily, member 4							24.0	27.0	26.0					1																	41303341		2203	4300	6503	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41303341G>A	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1750G>A	1.37:g.41303341G>A	ENSP00000262916:p.Asp584Asn					KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.D530N	p.D584N	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		13	1832	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	584			A-domain (Tetramerization).		O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.1750G>A	CCDS456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	30|30	5.052753|5.052753	0.93793|0.93793	.|.	.|.	ENSG00000117013|ENSG00000117013	ENST00000347132;ENST00000509682|ENST00000443478	D;D|.	0.99886|.	-7.52;-7.52|.	4.64|4.64	4.64|4.64	0.57946|0.57946	Potassium channel, voltage dependent, KCNQ, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79240|0.79240	0.4412|0.4412	M|M	0.86502|0.86502	2.82|2.82	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.996;0.997|.	T|T	0.82596|0.82596	-0.0379|-0.0379	10|5	0.87932|.	D|.	0|.	-26.7471|-26.7471	15.0108|15.0108	0.71547|0.71547	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	530;584|.	P56696-2;P56696|.	.;KCNQ4_HUMAN|.	N|E	584;530|444	ENSP00000262916:D584N;ENSP00000423756:D530N|.	ENSP00000262916:D584N|.	D|G	+|+	1|2	0|0	KCNQ4|KCNQ4	41075928|41075928	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	9.742000|9.742000	0.98846|0.98846	2.140000|2.140000	0.66376|0.66376	0.462000|0.462000	0.41574|0.41574	GAC|GGA		0.622	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		5	21	0	0	0	1	0	5	21				
FAT4	79633	broad.mit.edu	37	4	126369631	126369631	+	Missense_Mutation	SNP	C	C	T	rs144853732	byFrequency	TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:126369631C>T	ENST00000394329.3	+	9	7473	c.7460C>T	c.(7459-7461)gCg>gTg	p.A2487V	FAT4_ENST00000335110.5_Missense_Mutation_p.A785V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2487	Cadherin 24. {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						TTTGTCTTTGCGGTTACAGTC	0.363													C|||	11	0.00219649	0.0	0.0	5008	,	,		18797	0.0		0.0	False		,,,				2504	0.0112					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.(7459-7461)gCg>gTg		FAT atypical cadherin 4							89.0	90.0	89.0					4																	126369631		2203	4299	6502	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126369631C>T	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.7460C>T	4.37:g.126369631C>T	ENSP00000377862:p.Ala2487Val					FAT4_ENST00000335110.5_Missense_Mutation_p.A785V	p.A2487V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			9	7473	+			2487			Cadherin 24.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.7460C>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	34	5.400577	0.96030	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.50813	0.73;0.73	5.92	5.92	0.95590	Cadherin (3);Cadherin-like (1);	0.000000	0.34088	U	0.004273	T	0.46171	0.1379	N	0.16602	0.42	0.80722	D	1	P;D	0.61080	0.846;0.989	B;P	0.54460	0.246;0.753	T	0.19811	-1.0294	10	0.12430	T	0.62	.	20.3343	0.98733	0.0:1.0:0.0:0.0	.	785;2487	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	V	2487;785	ENSP00000377862:A2487V;ENSP00000335169:A785V	ENSP00000335169:A785V	A	+	2	0	FAT4	126589081	1.000000	0.71417	0.974000	0.42286	0.999000	0.98932	7.662000	0.83803	2.822000	0.97130	0.650000	0.86243	GCG		0.363	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		6	281	0	0	0	1	0	6	281				
ITIH4	3700	broad.mit.edu	37	3	52858522	52858522	+	Silent	SNP	G	G	C	rs917693	byFrequency	TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:52858522G>C	ENST00000266041.4	-	8	1032	c.936C>G	c.(934-936)ctC>ctG	p.L312L	ITIH4_ENST00000467462.1_5'Flank|ITIH4-AS1_ENST00000478366.1_RNA|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000346281.5_Silent_p.L312L|ITIH4_ENST00000485816.1_Silent_p.L312L|ITIH4_ENST00000434759.3_Silent_p.L224L|ITIH4_ENST00000406595.1_Silent_p.L312L	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	312	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGAAGACGATGAGGTTGAACT	0.572																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(934-936)ctC>ctG		inter-alpha-trypsin inhibitor heavy chain family, member 4							108.0	105.0	106.0					3																	52858522		2203	4300	6503	SO:0001819	synonymous_variant	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52858522G>C	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.936C>G	3.37:g.52858522G>C						ITIH4_ENST00000346281.5_Silent_p.L312L|ITIH4_ENST00000485816.1_Silent_p.L312L|ITIH4_ENST00000434759.3_Silent_p.L224L|ITIH4_ENST00000406595.1_Silent_p.L312L|ITIH4-AS1_ENST00000478366.1_RNA	p.L312L	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	8	1032	-			312			VWFA.		B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	ENST00000266041.4	37	c.936C>G	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.271880	0.01421	.	.	ENSG00000055955	ENST00000441637	.	.	.	5.35	0.201	0.15186	.	.	.	.	.	T	0.53351	0.1791	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42582	-0.9443	4	.	.	.	-14.9408	6.7777	0.23628	0.4982:0.1878:0.314:0.0	rs917693;rs917693	.	.	.	D	170	.	.	H	-	1	0	ITIH4	52833562	0.001000	0.12720	0.085000	0.20634	0.034000	0.12701	-0.234000	0.09028	0.014000	0.14944	0.561000	0.74099	CAT		0.572	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		17	89	0	0	0	1	0	17	89				
YAF2	10138	broad.mit.edu	37	12	42555436	42555436	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:42555436T>A	ENST00000534854.2	-	3	351	c.284A>T	c.(283-285)aAg>aTg	p.K95M	YAF2_ENST00000380788.3_Missense_Mutation_p.K86M|YAF2_ENST00000327791.4_Missense_Mutation_p.K71M|YAF2_ENST00000380790.4_Missense_Mutation_p.K53M|YAF2_ENST00000442791.3_Missense_Mutation_p.K119M	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	95					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		ATGGCTAttctttttgctagt	0.299																																						ENST00000327791.4																			0				cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8						c.(211-213)aAg>aTg		YY1 associated factor 2							121.0	115.0	117.0					12																	42555436		2203	4300	6503	SO:0001583	missense	10138				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:42555436T>A	U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.284A>T	12.37:g.42555436T>A	ENSP00000439256:p.Lys95Met					YAF2_ENST00000380790.4_Missense_Mutation_p.K53M|YAF2_ENST00000442791.3_Missense_Mutation_p.K119M|YAF2_ENST00000380788.3_Missense_Mutation_p.K86M|YAF2_ENST00000534854.2_Missense_Mutation_p.K95M	p.K71M			Q8IY57	YAF2_HUMAN		GBM - Glioblastoma multiforme(48;0.0514)	4	279	-	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)	95					A8K5P0|B4DFU3|G3V465|Q99710	Missense_Mutation	SNP	ENST00000534854.2	37	c.212A>T	CCDS31775.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207609	0.79240	.	.	ENSG00000015153	ENST00000327791;ENST00000442791;ENST00000534854;ENST00000380790;ENST00000380788	.	.	.	5.73	5.73	0.89815	.	0.042878	0.85682	D	0.000000	T	0.73768	0.3629	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.76494	0.997;0.999;0.999;0.996	D;D;D;P	0.65874	0.912;0.921;0.939;0.819	T	0.76222	-0.3038	9	0.72032	D	0.01	.	16.0064	0.80363	0.0:0.0:0.0:1.0	.	53;86;71;95	B4DFU3;A6NL56;Q8IY57-2;Q8IY57	.;.;.;YAF2_HUMAN	M	71;119;95;53;86	.	ENSP00000328004:K71M	K	-	2	0	YAF2	40841703	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.740000	0.62087	2.171000	0.68590	0.528000	0.53228	AAG		0.299	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403781.1			12	46	0	0	0	1	0	12	46				
RPRD2	23248	broad.mit.edu	37	1	150432681	150432681	+	Silent	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:150432681G>A	ENST00000369068.4	+	9	1303	c.1299G>A	c.(1297-1299)gtG>gtA	p.V433V	RPRD2_ENST00000539519.1_Silent_p.V407V|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Silent_p.V407V	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	433						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAAAGCCTGTGAATACTTCTC	0.468																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1219-1221)gtG>gtA		regulation of nuclear pre-mRNA domain containing 2							94.0	95.0	94.0					1																	150432681		1904	4139	6043	SO:0001819	synonymous_variant	23248						protein binding	g.chr1:150432681G>A	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1299G>A	1.37:g.150432681G>A						RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.V433V|RPRD2_ENST00000539519.1_Silent_p.V407V	p.V407V			Q5VT52	RPRD2_HUMAN			8	1286	+			433					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	ENST00000369068.4	37	c.1221G>A	CCDS44216.1																																																																																				0.468	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		7	45	0	0	0	1	0	7	45				
ZNF607	84775	broad.mit.edu	37	19	38189766	38189766	+	Silent	SNP	T	T	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:38189766T>C	ENST00000355202.4	-	5	1861	c.1266A>G	c.(1264-1266)aaA>aaG	p.K422K	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.K421K	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATTCCTTACATTTGTAGGGTT	0.398																																						ENST00000355202.4																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27						c.(1264-1266)aaA>aaG		zinc finger protein 607							98.0	100.0	99.0					19																	38189766		2203	4300	6503	SO:0001819	synonymous_variant	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38189766T>C	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1266A>G	19.37:g.38189766T>C						CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.K421K	p.K422K	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	1861	-			422					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP	ENST00000355202.4	37	c.1266A>G	CCDS33006.1																																																																																				0.398	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		66	159	0	0	0	1	0	66	159				
BLVRA	644	broad.mit.edu	37	7	43832348	43832348	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:43832348G>A	ENST00000402924.1	+	6	452	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	BLVRA_ENST00000265523.4_Missense_Mutation_p.E97K	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	97					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						CGTCCTTGTGGAATACCCCAT	0.473																																						ENST00000402924.1																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						c.(289-291)Gaa>Aaa		biliverdin reductase A	NADH(DB00157)						95.0	86.0	89.0					7																	43832348		2203	4300	6503	SO:0001583	missense	644				heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding	g.chr7:43832348G>A	BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.289G>A	7.37:g.43832348G>A	ENSP00000385757:p.Glu97Lys					BLVRA_ENST00000265523.4_Missense_Mutation_p.E97K	p.E97K	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN			6	452	+			97					A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	ENST00000402924.1	37	c.289G>A	CCDS5472.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347790	0.82022	.	.	ENSG00000106605	ENST00000265523;ENST00000402924;ENST00000424330	T;T;T	0.63744	-0.06;-0.06;-0.06	4.16	4.16	0.48862	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.86167	0.5868	H	0.98111	4.15	0.45704	D	0.998612	D	0.89917	1.0	D	0.97110	1.0	D	0.91285	0.5054	10	0.87932	D	0	.	14.3298	0.66548	0.0:0.0:1.0:0.0	.	97	P53004	BIEA_HUMAN	K	97	ENSP00000265523:E97K;ENSP00000385757:E97K;ENSP00000412005:E97K	ENSP00000265523:E97K	E	+	1	0	BLVRA	43798873	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.716000	0.68437	2.026000	0.59711	0.484000	0.47621	GAA		0.473	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339006.1	NM_000712		12	83	0	0	0	1	0	12	83				
RBM44	375316	broad.mit.edu	37	2	238727099	238727099	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:238727099G>A	ENST00000409864.1	+	3	1794	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Missense_Mutation_p.E514K			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	513						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATGGCAAAATGAGAAACAAAA	0.378																																						ENST00000316997.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1540-1542)Gag>Aag		RNA binding motif protein 44							56.0	52.0	53.0					2																	238727099		1860	4115	5975	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238727099G>A	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1540G>A	2.37:g.238727099G>A	ENSP00000386727:p.Glu514Lys					RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.E514K	p.E514K	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	1672	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	513					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.1540G>A	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838642	0.51057	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.31510	1.49;1.49	5.86	5.86	0.93980	.	0.469659	0.21606	N	0.071878	T	0.47210	0.1433	M	0.67953	2.075	0.20489	N	0.999896	D	0.63880	0.993	P	0.53266	0.722	T	0.43458	-0.9390	10	0.52906	T	0.07	-7.1978	16.9051	0.86124	0.0:0.0:1.0:0.0	.	513	Q6ZP01	RBM44_HUMAN	K	514	ENSP00000321179:E514K;ENSP00000386727:E514K	ENSP00000321179:E514K	E	+	1	0	RBM44	238391838	0.994000	0.37717	0.090000	0.20809	0.192000	0.23643	3.093000	0.50217	2.777000	0.95525	0.591000	0.81541	GAG		0.378	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		9	57	0	0	0	1	0	9	57				
RFX3	5991	broad.mit.edu	37	9	3275520	3275520	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:3275520G>C	ENST00000382004.3	-	10	1377	c.1066C>G	c.(1066-1068)Ctt>Gtt	p.L356V	RFX3_ENST00000302303.1_Missense_Mutation_p.L356V|RFX3_ENST00000358730.2_Missense_Mutation_p.L356V	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	356					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TCTCTATAAAGACTCTGCAGT	0.388																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1066-1068)Ctt>Gtt		regulatory factor X, 3 (influences HLA class II expression)							122.0	115.0	118.0					9																	3275520		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3275520G>C	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1066C>G	9.37:g.3275520G>C	ENSP00000371434:p.Leu356Val					RFX3_ENST00000358730.2_Missense_Mutation_p.L356V|RFX3_ENST00000302303.1_Missense_Mutation_p.L356V	p.L356V	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	10	1377	-			356					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.1066C>G	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400722	0.42613	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303	T;T;T	0.07567	3.18;3.18;3.18	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.17492	0.0420	L	0.44542	1.39	0.80722	D	1	P;B;B	0.40794	0.729;0.179;0.103	P;B;B	0.49829	0.623;0.121;0.038	T	0.00229	-1.1898	10	0.41790	T	0.15	-10.0088	19.877	0.96880	0.0:0.0:1.0:0.0	.	356;356;356	P48380-3;P48380-2;P48380	.;.;RFX3_HUMAN	V	356	ENSP00000371434:L356V;ENSP00000351574:L356V;ENSP00000303847:L356V	ENSP00000303847:L356V	L	-	1	0	RFX3	3265520	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.696000	0.92011	0.650000	0.86243	CTT		0.388	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		25	85	0	0	0	1	0	25	85				
NHP2L1	4809	broad.mit.edu	37	22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000463675.1_5'UTR	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577																																						ENST00000401959.1																			0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(250-252)Cgc>Tgc		NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)							83.0	76.0	79.0					22																	42071074		2203	4300	6503	SO:0001583	missense	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42071074G>A		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"""	601304	"""non-histone chromosome protein 2 (S. cerevisiae)-like 1"", ""sperm specific antigen 1"""	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.250C>T	22.37:g.42071074G>A	ENSP00000383949:p.Arg84Cys					NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C	p.R84C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN			4	566	-			84						Missense_Mutation	SNP	ENST00000401959.1	37	c.250C>T	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089824	0.55968	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.34	4.33	0.51752	Ribosomal protein L7Ae conserved site (1);Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.046546	0.85682	D	0.000000	T	0.49575	0.1565	L	0.58428	1.81	0.80722	D	1	B	0.25667	0.131	B	0.17722	0.019	T	0.53443	-0.8438	10	0.87932	D	0	.	14.2921	0.66286	0.072:0.0:0.928:0.0	.	84	P55769	NH2L1_HUMAN	C	84;84;84;88	ENSP00000347401:R84C;ENSP00000215956:R84C;ENSP00000383949:R84C;ENSP00000383989:R88C	ENSP00000215956:R84C	R	-	1	0	NHP2L1	40401020	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.467000	0.80930	1.400000	0.46741	-0.229000	0.12294	CGC		0.577	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		4	137	0	0	0	1	0	4	137				
RASGEF1C	255426	broad.mit.edu	37	5	179529143	179529143	+	Splice_Site	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:179529143C>T	ENST00000393371.2	-	12	1600	c.1304G>A	c.(1303-1305)gGt>gAt	p.G435D	RASGEF1C_ENST00000361132.4_Splice_Site_p.G435D|RASGEF1C_ENST00000522500.1_Splice_Site_p.G284D			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	435	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAATAAAGACCTAGACAGAA	0.418																																						ENST00000393371.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.e12-1		RasGEF domain family, member 1C							82.0	76.0	78.0					5																	179529143		2203	4300	6503	SO:0001630	splice_region_variant	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179529143C>T	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.1304-1G>A	5.37:g.179529143C>T						RASGEF1C_ENST00000522500.1_Splice_Site_p.G284_splice|RASGEF1C_ENST00000361132.4_Splice_Site_p.G435_splice	p.G435_splice			Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1600	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	435			Ras-GEF.		D3DWQ7|Q7Z4T0|Q8NA49	Splice_Site	SNP	ENST00000393371.2	37	c.1303_splice	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	C	8.921	0.961118	0.18583	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.26957	1.7;1.7;1.7	4.02	4.02	0.46733	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.064498	0.64402	D	0.000009	T	0.10895	0.0266	N	0.04508	-0.205	0.51233	D	0.999918	B	0.02656	0.0	B	0.09377	0.004	T	0.14868	-1.0457	10	0.17369	T	0.5	.	10.1788	0.42955	0.0:0.7963:0.2037:0.0	.	435	Q8N431	RGF1C_HUMAN	D	435;435;284	ENSP00000354963:G435D;ENSP00000377037:G435D;ENSP00000429114:G284D	ENSP00000354963:G435D	G	-	2	0	RASGEF1C	179461749	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	3.966000	0.56795	1.966000	0.57179	0.462000	0.41574	GGT		0.418	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062	Missense_Mutation	50	117	0	0	0	1	0	50	117				
SEZ6L	23544	broad.mit.edu	37	22	26747060	26747060	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:26747060G>A	ENST00000248933.6	+	12	2545	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	SEZ6L_ENST00000402979.1_Missense_Mutation_p.R590H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R817H|SEZ6L_ENST00000403121.1_Missense_Mutation_p.R590H|SEZ6L_ENST00000411842.2_Missense_Mutation_p.R14H|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000529632.2_Missense_Mutation_p.R817H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R817H			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	817	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CACTCGACCCGCTTAATTTCG	0.547																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(2449-2451)cGc>cAc		seizure related 6 homolog (mouse)-like							117.0	102.0	107.0					22																	26747060		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26747060G>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2450G>A	22.37:g.26747060G>A	ENSP00000248933:p.Arg817His					SEZ6L_ENST00000403121.1_Missense_Mutation_p.R590H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R817H|SEZ6L_ENST00000248933.6_Missense_Mutation_p.R817H|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R590H|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000411842.2_Missense_Mutation_p.R14H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.R817H	p.R817H	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			12	2646	+			817			Sushi 4.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.2450G>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.913610	0.92178	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979;ENST00000411842	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	4.54	4.54	0.55810	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.56097	D	0.000035	T	0.76183	0.3952	M	0.72118	2.19	0.54753	D	0.99998	D;D;D;D;D;D	0.59357	0.961;0.985;0.977;0.978;0.968;0.985	P;P;P;P;P;P	0.62298	0.757;0.9;0.833;0.79;0.828;0.9	T	0.79548	-0.1758	10	0.66056	D	0.02	.	16.5015	0.84257	0.0:0.0:1.0:0.0	.	817;817;590;817;817;817	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	H	817;817;817;817;590;590;14	ENSP00000384772:R817H;ENSP00000437037:R817H;ENSP00000248933:R817H;ENSP00000342661:R817H;ENSP00000384838:R590H;ENSP00000384733:R590H;ENSP00000397274:R14H	ENSP00000248933:R817H	R	+	2	0	SEZ6L	25077060	1.000000	0.71417	0.995000	0.50966	0.697000	0.40408	8.815000	0.91973	2.381000	0.81170	0.539000	0.68188	CGC		0.547	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			4	171	0	0	0	1	0	4	171				
CLCF1	23529	broad.mit.edu	37	11	67132766	67132766	+	Silent	SNP	A	A	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:67132766A>T	ENST00000312438.7	-	3	716	c.519T>A	c.(517-519)ccT>ccA	p.P173P	AP003419.11_ENST00000543494.1_RNA|RN7SKP239_ENST00000364814.1_RNA|CLCF1_ENST00000528474.1_Silent_p.P163P|CLCF1_ENST00000533438.1_Silent_p.P163P	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	173					B cell differentiation (GO:0030183)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)	CNTFR-CLCF1 complex (GO:0097059)|CRLF-CLCF1 complex (GO:0097058)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	ciliary neurotrophic factor receptor binding (GO:0005127)|cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			CACTGTGGGCAGGGCCAGGAG	0.642																																						ENST00000312438.7																			0				endometrium(1)|urinary_tract(1)	2						c.(517-519)ccT>ccA		cardiotrophin-like cytokine factor 1							36.0	35.0	35.0					11																	67132766		2200	4295	6495	SO:0001819	synonymous_variant	23529				B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr11:67132766A>T	BC012939	CCDS31617.1, CCDS53666.1	11q13.3	2014-01-28	2006-07-03		ENSG00000175505	ENSG00000175505			17412	protein-coding gene	gene with protein product	"""B-cell stimulating factor 3"", ""cold-induced sweating syndrome 2"", ""novel neurotrophin-1"""	607672	"""CRLF1 associated cytokine-like factor 1"""			10500198, 10448081, 16782820	Standard	NM_001166212		Approved	NNT1, BSF3, CLC, NR6, CISS2, BSF-3, NNT-1	uc010rpp.2	Q9UBD9	OTTHUMG00000167669	ENST00000312438.7:c.519T>A	11.37:g.67132766A>T						CLCF1_ENST00000533438.1_Silent_p.P163P|CLCF1_ENST00000528474.1_Silent_p.P163P|AP003419.11_ENST00000543494.1_RNA	p.P173P	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.39e-06)		3	716	-			173					B4DNT4|Q6NZA4	Silent	SNP	ENST00000312438.7	37	c.519T>A	CCDS31617.1																																																																																				0.642	CLCF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395478.1	NM_013246		14	53	0	0	0	1	0	14	53				
AR	367	broad.mit.edu	37	X	66765025	66765025	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:66765025C>G	ENST00000374690.3	+	1	561	c.37C>G	c.(37-39)Cgg>Ggg	p.R13G	AR_ENST00000396044.3_Missense_Mutation_p.R13G|AR_ENST00000504326.1_Missense_Mutation_p.R13G|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	13	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	GGTCTACCCTCGGCCGCCGTC	0.607									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67						c.(37-39)Cgg>Ggg		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						63.0	46.0	52.0					X																	66765025		2203	4300	6503	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765025C>G	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.37C>G	X.37:g.66765025C>G	ENSP00000363822:p.Arg13Gly					AR_ENST00000396044.3_Missense_Mutation_p.R13G|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.R13G	p.R13G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	561	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	13			Modulating.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.37C>G	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	c	17.02	3.281791	0.59758	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	D;D;D	0.95821	-3.82;-3.82;-3.82	5.34	3.53	0.40419	.	0.086712	0.49305	D	0.000143	D	0.94915	0.8356	L	0.27053	0.805	0.30931	N	0.726897	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92286	0.5837	10	0.52906	T	0.07	.	9.7565	0.40506	0.3747:0.6253:0.0:0.0	.	13;13	E7EVX6;D3YPQ2	.;.	G	13	ENSP00000363822:R13G;ENSP00000421155:R13G;ENSP00000379359:R13G	ENSP00000363822:R13G	R	+	1	2	AR	66681750	0.967000	0.33354	0.948000	0.38648	0.960000	0.62799	1.948000	0.40303	0.578000	0.29487	0.597000	0.82753	CGG		0.607	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		10	28	0	0	0	1	0	10	28				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		4	54	0	0	0	1	0	4	54				
RBM34	23029	broad.mit.edu	37	1	235295103	235295103	+	Silent	SNP	T	T	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:235295103T>C	ENST00000408888.3	-	11	1448	c.1218A>G	c.(1216-1218)aaA>aaG	p.K406K	RBM34_ENST00000495224.1_5'UTR|TOMM20_ENST00000366607.4_5'Flank|RBM34_ENST00000366606.3_Silent_p.K401K			P42696	RBM34_HUMAN	RNA binding motif protein 34	406						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			GGAGAACAGCTTTTTCTCCAA	0.368																																						ENST00000408888.3																			0				central_nervous_system(1)	1						c.(1216-1218)aaA>aaG		RNA binding motif protein 34							118.0	111.0	113.0					1																	235295103		1824	4082	5906	SO:0001819	synonymous_variant	23029					nucleolus	nucleotide binding|RNA binding	g.chr1:235295103T>C		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.1218A>G	1.37:g.235295103T>C						RBM34_ENST00000495224.1_5'UTR|RBM34_ENST00000366606.3_Silent_p.K401K	p.K406K			P42696	RBM34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		11	1448	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	406					A8K8J7|Q8N2Z8|Q9H5A1	Silent	SNP	ENST00000408888.3	37	c.1218A>G	CCDS41477.2																																																																																				0.368	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		35	136	0	0	0	1	0	35	136				
ZNF808	388558	broad.mit.edu	37	19	53056417	53056417	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:53056417A>G	ENST00000359798.4	+	5	428	c.248A>G	c.(247-249)gAa>gGa	p.E83G		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	83	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GGCAATAGAGAAGTGATCCAC	0.363																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(247-249)gAa>gGa		zinc finger protein 808							155.0	160.0	158.0					19																	53056417		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53056417A>G	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.248A>G	19.37:g.53056417A>G	ENSP00000352846:p.Glu83Gly						p.E83G	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	428	+			83			KRAB.		Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.248A>G	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	11.27	1.589000	0.28357	.	.	ENSG00000198482	ENST00000359798;ENST00000465448;ENST00000486474;ENST00000461779;ENST00000461321	T;T;T;T;T	0.11385	3.31;5.38;2.78;4.75;5.35	1.57	1.57	0.23409	Krueppel-associated box (2);	.	.	.	.	T	0.15392	0.0371	L	0.34521	1.04	0.09310	N	1	D	0.63046	0.992	D	0.63597	0.916	T	0.18304	-1.0341	9	0.30854	T	0.27	.	5.1232	0.14871	1.0:0.0:0.0:0.0	.	83	Q8N4W9	ZN808_HUMAN	G	83;83;14;83;83	ENSP00000352846:E83G;ENSP00000419291:E83G;ENSP00000418528:E14G;ENSP00000417727:E83G;ENSP00000418696:E83G	ENSP00000352846:E83G	E	+	2	0	ZNF808	57748229	0.024000	0.19004	0.003000	0.11579	0.006000	0.05464	0.977000	0.29475	0.701000	0.31803	0.254000	0.18369	GAA		0.363	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		74	354	0	0	0	1	0	74	354				
CHD8	57680	broad.mit.edu	37	14	21870238	21870238	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr14:21870238C>G	ENST00000557364.1	-	20	4203	c.3940G>C	c.(3940-3942)Gcc>Ccc	p.A1314P	CHD8_ENST00000399982.2_Missense_Mutation_p.A1314P|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.A1035P			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1314					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCCATGATGGCTGCATATGCT	0.378																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(3940-3942)Gcc>Ccc		chromodomain helicase DNA binding protein 8							125.0	118.0	120.0					14																	21870238		2019	4212	6231	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21870238C>G	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3940G>C	14.37:g.21870238C>G	ENSP00000451601:p.Ala1314Pro					CHD8_ENST00000430710.3_Missense_Mutation_p.A1035P|CHD8_ENST00000557364.1_Missense_Mutation_p.A1314P|CHD8_ENST00000555962.1_5'UTR	p.A1314P	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	19	4004	-	all_cancers(95;0.00121)		1314					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.3940G>C	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.871842|4.871842	0.91587|0.91587	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.85702|.	-2.02;-2.02;-2.02|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86560|0.86560	0.5962|0.5962	M|M	0.91510|0.91510	3.215|3.215	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.85130|.	0.993;0.997|.	D|D	0.87931|0.87931	0.2710|0.2710	10|5	0.66056|.	D|.	0.02|.	-10.8067|-10.8067	19.6509|19.6509	0.95805|0.95805	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1314;1035|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	P|T	1035;1314;1034;1314|539	ENSP00000406288:A1035P;ENSP00000382863:A1314P;ENSP00000451601:A1314P|.	ENSP00000262707:A1034P|.	A|S	-|-	1|2	0|0	CHD8|CHD8	20940078|20940078	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.776000|7.776000	0.85560|0.85560	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.378	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		18	96	0	0	0	1	0	18	96				
NKD1	85407	broad.mit.edu	37	16	50659473	50659473	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:50659473C>T	ENST00000268459.3	+	6	668	c.444C>T	c.(442-444)aaC>aaT	p.N148N		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	148	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.				eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TTGACAACAACGGCAAGGTCA	0.622																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(442-444)aaC>aaT		naked cuticle homolog 1 (Drosophila)							90.0	79.0	83.0					16																	50659473		2198	4300	6498	SO:0001819	synonymous_variant	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50659473C>T	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.444C>T	16.37:g.50659473C>T							p.N148N	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	6	668	+		all_cancers(37;0.229)	148			EF-hand.|Interaction with DVL1, DVL2 and DVL3 (By similarity).		B2RC39|Q8WZ08	Silent	SNP	ENST00000268459.3	37	c.444C>T	CCDS10743.1																																																																																				0.622	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			17	35	0	0	0	1	0	17	35				
L3MBTL3	84456	broad.mit.edu	37	6	130381184	130381184	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:130381184C>G	ENST00000529410.1	+	12	1242	c.763C>G	c.(763-765)Caa>Gaa	p.Q255E	L3MBTL3_ENST00000533560.1_Missense_Mutation_p.Q230E|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.Q255E|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.Q230E|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.Q255E|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.Q230E			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	255					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ATTTTAGCATCAATCCTTTCC	0.368																																						ENST00000529410.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43						c.(763-765)Caa>Gaa		l(3)mbt-like 3 (Drosophila)							110.0	100.0	103.0					6																	130381184		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130381184C>G	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.763C>G	6.37:g.130381184C>G	ENSP00000431962:p.Gln255Glu					L3MBTL3_ENST00000533560.1_Missense_Mutation_p.Q230E|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.Q255E|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.Q230E|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.Q230E|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.Q255E	p.Q255E			Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	12	1242	+			255					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.763C>G	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362586	0.61403	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	D;D;D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72;-2.72;-2.72	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.91975	0.7458	L	0.46157	1.445	0.58432	D	0.999996	D;P	0.65815	0.995;0.849	D;P	0.74674	0.984;0.731	D	0.88996	0.3418	10	0.23302	T	0.38	.	19.2567	0.93948	0.0:1.0:0.0:0.0	.	230;255	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	E	255;230;255;230;230;255	ENSP00000431962:Q255E;ENSP00000437185:Q230E;ENSP00000354526:Q255E;ENSP00000357121:Q230E;ENSP00000436706:Q230E;ENSP00000357118:Q255E	ENSP00000354526:Q255E	Q	+	1	0	L3MBTL3	130422877	1.000000	0.71417	0.978000	0.43139	0.110000	0.19582	6.857000	0.75455	2.625000	0.88918	0.455000	0.32223	CAA		0.368	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		5	67	0	0	0	1	0	5	67				
NR4A1	3164	broad.mit.edu	37	12	52451243	52451243	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:52451243C>G	ENST00000243050.1	+	7	1783	c.1469C>G	c.(1468-1470)tCa>tGa	p.S490*	NR4A1_ENST00000394824.2_Nonsense_Mutation_p.S490*|RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000394825.1_Nonsense_Mutation_p.S490*|NR4A1_ENST00000545748.1_Nonsense_Mutation_p.S544*|NR4A1_ENST00000550082.1_Nonsense_Mutation_p.S503*|NR4A1_ENST00000360284.3_Nonsense_Mutation_p.S503*	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	490					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTGGCCTTCTCAAGGTCCCTG	0.612																																						ENST00000545748.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(1630-1632)tCa>tGa		nuclear receptor subfamily 4, group A, member 1							149.0	133.0	138.0					12																	52451243		2203	4300	6503	SO:0001587	stop_gained	3164				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52451243C>G	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1469C>G	12.37:g.52451243C>G	ENSP00000243050:p.Ser490*					NR4A1_ENST00000550082.1_Nonsense_Mutation_p.S503*|NR4A1_ENST00000394825.1_Nonsense_Mutation_p.S490*|NR4A1_ENST00000243050.1_Nonsense_Mutation_p.S490*|NR4A1_ENST00000360284.3_Nonsense_Mutation_p.S503*|NR4A1_ENST00000394824.2_Nonsense_Mutation_p.S490*	p.S544*			P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	7	2626	+			490					B4DML7|Q15627|Q53Y00|Q6IBU8	Nonsense_Mutation	SNP	ENST00000243050.1	37	c.1631C>G	CCDS8818.1	.	.	.	.	.	.	.	.	.	.	C	39	7.780928	0.98486	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.8627	0.88786	0.0:1.0:0.0:0.0	.	.	.	.	X	503;544;503;490;490;490	.	ENSP00000243050:S490X	S	+	2	0	NR4A1	50737510	1.000000	0.71417	0.969000	0.41365	0.997000	0.91878	7.604000	0.82830	2.837000	0.97791	0.655000	0.94253	TCA		0.612	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			24	62	0	0	0	1	0	24	62				
PTPRR	5801	broad.mit.edu	37	12	71056307	71056307	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:71056307C>T	ENST00000283228.2	-	11	2028	c.1576G>A	c.(1576-1578)Gat>Aat	p.D526N	PTPRR_ENST00000440835.2_Missense_Mutation_p.D281N|PTPRR_ENST00000342084.4_Missense_Mutation_p.D414N|PTPRR_ENST00000549308.1_Missense_Mutation_p.D281N|PTPRR_ENST00000378778.1_Missense_Mutation_p.D320N|PTPRR_ENST00000537619.2_5'UTR	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	526	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GTGTAGTTATCACATTCATTT	0.363																																						ENST00000283228.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(1576-1578)Gat>Aat		protein tyrosine phosphatase, receptor type, R							127.0	110.0	116.0					12																	71056307		2203	4298	6501	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71056307C>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1576G>A	12.37:g.71056307C>T	ENSP00000283228:p.Asp526Asn					PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000440835.2_Missense_Mutation_p.D281N|PTPRR_ENST00000378778.1_Missense_Mutation_p.D320N|PTPRR_ENST00000549308.1_Missense_Mutation_p.D281N|PTPRR_ENST00000342084.4_Missense_Mutation_p.D414N	p.D526N	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	11	2028	-			526			Tyrosine-protein phosphatase.		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1576G>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294636	0.60086	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.67	4.79	0.61399	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.120588	0.36555	N	0.002530	T	0.22003	0.0530	N	0.21617	0.685	0.50313	D	0.99986	P;B;B;B	0.37176	0.586;0.255;0.001;0.001	B;B;B;B	0.36567	0.228;0.078;0.001;0.002	T	0.04140	-1.0974	10	0.39692	T	0.17	-6.5003	12.835	0.57767	0.0:0.8644:0.0:0.1356	.	375;414;320;526	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	N	281;526;320;414;281	ENSP00000391750:D281N;ENSP00000283228:D526N;ENSP00000368054:D320N;ENSP00000339605:D414N;ENSP00000446943:D281N	ENSP00000283228:D526N	D	-	1	0	PTPRR	69342574	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.342000	0.59341	1.545000	0.49373	-0.136000	0.14681	GAT		0.363	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		25	80	0	0	0	1	0	25	80				
CCDC153	283152	broad.mit.edu	37	11	119061140	119061140	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:119061140C>T	ENST00000503566.2	-	6	501	c.502G>A	c.(502-504)Gcc>Acc	p.A168T	CCDC153_ENST00000415318.1_Missense_Mutation_p.A168T			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	168										lung(3)|stomach(1)	4						CTCAGCTTGGCCAAGAGCCTG	0.567																																						ENST00000503566.2																			0				lung(3)|stomach(1)	4						c.(502-504)Gcc>Acc		coiled-coil domain containing 153							98.0	85.0	89.0					11																	119061140		2200	4295	6495	SO:0001583	missense	283152							g.chr11:119061140C>T		CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.502G>A	11.37:g.119061140C>T	ENSP00000423567:p.Ala168Thr					CCDC153_ENST00000415318.1_Missense_Mutation_p.A168T	p.A168T			Q494R4	CC153_HUMAN			6	501	-			168						Missense_Mutation	SNP	ENST00000503566.2	37	c.502G>A	CCDS44753.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554392	0.45487	.	.	ENSG00000248712	ENST00000503566;ENST00000415318	T;T	0.29397	1.57;1.57	4.68	4.68	0.58851	.	0.085963	0.49916	D	0.000121	T	0.45558	0.1348	L	0.49126	1.545	0.34167	D	0.66936	D	0.89917	1.0	D	0.81914	0.995	T	0.52268	-0.8598	10	0.27785	T	0.31	-31.7736	11.6367	0.51209	0.1773:0.8227:0.0:0.0	.	168	Q494R4	CC153_HUMAN	T	168	ENSP00000423567:A168T;ENSP00000445431:A168T	ENSP00000445431:A168T	A	-	1	0	CCDC153	118566350	1.000000	0.71417	0.993000	0.49108	0.096000	0.18686	1.332000	0.33805	2.453000	0.82957	0.561000	0.74099	GCC		0.567	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388331.2	NM_001033658		4	101	0	0	0	1	0	4	101				
TLR5	7100	broad.mit.edu	37	1	223284667	223284667	+	Silent	SNP	T	T	C	rs572228250		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:223284667T>C	ENST00000540964.1	-	4	2168	c.1707A>G	c.(1705-1707)gtA>gtG	p.V569V	TLR5_ENST00000342210.6_Silent_p.V569V			O60602	TLR5_HUMAN	toll-like receptor 5	569			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CACTAAGTGATACAAATACAT	0.378													T|||	1	0.000199681	0.0	0.0014	5008	,	,		21770	0.0		0.0	False		,,,				2504	0.0					ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1705-1707)gtA>gtG		toll-like receptor 5							67.0	66.0	66.0					1																	223284667		2203	4300	6503	SO:0001819	synonymous_variant	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223284667T>C		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1707A>G	1.37:g.223284667T>C						TLR5_ENST00000342210.6_Silent_p.V569V	p.V569V			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	2168	-			569		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).			B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	37	c.1707A>G	CCDS31033.1																																																																																				0.378	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		23	92	0	0	0	1	0	23	92				
RBM48	84060	broad.mit.edu	37	7	92161777	92161777	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr7:92161777A>G	ENST00000265732.5	+	3	403	c.362A>G	c.(361-363)tAt>tGt	p.Y121C	RBM48_ENST00000481551.1_Missense_Mutation_p.Y121C	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	121	RRM.					nucleus (GO:0005634)	RNA binding (GO:0003723)										CATGTGTGCTATGCTCCAGAA	0.343																																						ENST00000481551.1																			0											c.(361-363)tAt>tGt		RNA binding motif protein 48							147.0	136.0	139.0					7																	92161777		1830	4093	5923	SO:0001583	missense	84060						nucleotide binding	g.chr7:92161777A>G	AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.362A>G	7.37:g.92161777A>G	ENSP00000265732:p.Tyr121Cys					RBM48_ENST00000265732.5_Missense_Mutation_p.Y121C	p.Y121C			Q5RL73	CG064_HUMAN			3	403	+			121					B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Missense_Mutation	SNP	ENST00000265732.5	37	c.362A>G	CCDS43615.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.437186	0.83885	.	.	ENSG00000127993	ENST00000265732;ENST00000481551;ENST00000496410;ENST00000450580	.	.	.	5.2	5.2	0.72013	Nucleotide-binding, alpha-beta plait (1);	0.117853	0.64402	D	0.000013	D	0.83700	0.5311	M	0.87971	2.92	0.80722	D	1	P;D;D	0.89917	0.826;1.0;0.998	P;D;D	0.97110	0.585;1.0;0.962	D	0.86724	0.1944	9	0.66056	D	0.02	.	15.0507	0.71867	1.0:0.0:0.0:0.0	.	121;121;121	B4DGJ6;B7Z2K5;Q5RL73	.;.;CG064_HUMAN	C	121;121;63;121	.	ENSP00000265732:Y121C	Y	+	2	0	C7orf64	91999713	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.676000	0.91199	1.941000	0.56285	0.482000	0.46254	TAT		0.343	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120		67	121	0	0	0	1	0	67	121				
TAAR1	134864	broad.mit.edu	37	6	132966607	132966607	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:132966607C>G	ENST00000275216.1	-	1	535	c.536G>C	c.(535-537)aGa>aCa	p.R179T		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	179					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	GCAACCTCCTCTGCAGTGAAC	0.373																																						ENST00000275216.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18						c.(535-537)aGa>aCa		trace amine associated receptor 1	Amphetamine(DB00182)						79.0	84.0	83.0					6																	132966607		2203	4299	6502	SO:0001583	missense	134864					plasma membrane		g.chr6:132966607C>G	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.536G>C	6.37:g.132966607C>G	ENSP00000275216:p.Arg179Thr						p.R179T	NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	1	535	-	Breast(56;0.135)		179					Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	c.536G>C	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.140303	0.00335	.	.	ENSG00000146399	ENST00000275216	T	0.35789	1.29	5.93	-6.03	0.02185	GPCR, rhodopsin-like superfamily (1);	1.704530	0.02921	N	0.137922	T	0.02888	0.0086	N	0.02539	-0.55	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.16070	-1.0415	10	0.18276	T	0.48	1.0704	0.9269	0.01327	0.3734:0.2609:0.1864:0.1794	.	179	Q96RJ0	TAAR1_HUMAN	T	179	ENSP00000275216:R179T	ENSP00000275216:R179T	R	-	2	0	TAAR1	133008300	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.222000	0.09190	-0.678000	0.05224	-0.410000	0.06199	AGA		0.373	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327		8	145	0	0	0	1	0	8	145				
SLC30A5	64924	broad.mit.edu	37	5	68419115	68419115	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:68419115G>A	ENST00000396591.3	+	14	2471	c.1861G>A	c.(1861-1863)Gct>Act	p.A621T	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	621					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ATGGTTCATCGCTGACCCACT	0.403																																						ENST00000396591.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1861-1863)Gct>Act		solute carrier family 30 (zinc transporter), member 5							133.0	118.0	123.0					5																	68419115		2203	4300	6503	SO:0001583	missense	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68419115G>A	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1861G>A	5.37:g.68419115G>A	ENSP00000379836:p.Ala621Thr					CTC-498J12.3_ENST00000504129.1_RNA	p.A621T	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	14	2471	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	621					B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	c.1861G>A	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	G	33	5.272287	0.95429	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	T	0.67345	-0.26	4.96	4.96	0.65561	.	0.047334	0.85682	D	0.000000	T	0.77246	0.4102	M	0.84773	2.715	0.80722	D	1	P;D;P	0.53885	0.951;0.963;0.944	P;P;P	0.48795	0.59;0.588;0.586	T	0.82474	-0.0439	10	0.66056	D	0.02	.	18.0006	0.89196	0.0:0.0:1.0:0.0	.	450;450;621	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	T	621;216	ENSP00000379836:A621T	ENSP00000379836:A621T	A	+	1	0	SLC30A5	68454871	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.318000	0.96334	2.573000	0.86826	0.650000	0.86243	GCT		0.403	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			5	153	0	0	0	1	0	5	153				
GOLT1A	127845	broad.mit.edu	37	1	204170800	204170800	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:204170800C>T	ENST00000308302.3	-	3	442	c.257G>A	c.(256-258)gGc>gAc	p.G86D	GOLT1A_ENST00000475517.1_5'UTR	NM_198447.1	NP_940849.1			golgi transport 1A											kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			CAGGAACATGCCGAGGAGGGG	0.527																																						ENST00000308302.3																			0				kidney(1)|lung(2)|urinary_tract(1)	4						c.(256-258)gGc>gAc		golgi transport 1A							122.0	129.0	126.0					1																	204170800		2203	4300	6503	SO:0001583	missense	127845				protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		g.chr1:204170800C>T	BC058832	CCDS1443.1	1q32.1	2010-06-24	2010-06-24		ENSG00000174567	ENSG00000174567			24766	protein-coding gene	gene with protein product			"""golgi transport 1 homolog A (S. cerevisiae)"""			12477932	Standard	NM_198447		Approved	FLJ42654, CGI-141, YMR292W, GOT1, MGC62027	uc001has.1	Q6ZVE7	OTTHUMG00000036056	ENST00000308302.3:c.257G>A	1.37:g.204170800C>T	ENSP00000308535:p.Gly86Asp					GOLT1A_ENST00000475517.1_5'UTR	p.G86D	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)		3	442	-	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		86						Missense_Mutation	SNP	ENST00000308302.3	37	c.257G>A	CCDS1443.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689487	0.68271	.	.	ENSG00000174567	ENST00000308302	T	0.52983	0.64	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000007	T	0.78317	0.4264	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84593	0.0668	10	0.87932	D	0	-13.4751	17.9036	0.88912	0.0:1.0:0.0:0.0	.	86	Q6ZVE7	GOT1A_HUMAN	D	86	ENSP00000308535:G86D	ENSP00000308535:G86D	G	-	2	0	GOLT1A	202437423	1.000000	0.71417	0.996000	0.52242	0.086000	0.17979	7.709000	0.84645	2.571000	0.86741	0.650000	0.86243	GGC		0.527	GOLT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087887.1	NM_198447		4	126	0	0	0	1	0	4	126				
INSR	3643	broad.mit.edu	37	19	7117406	7117406	+	Silent	SNP	G	G	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:7117406G>T	ENST00000302850.5	-	22	3952	c.3810C>A	c.(3808-3810)cgC>cgA	p.R1270R	INSR_ENST00000341500.5_Silent_p.R1258R	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GCCAGCACATGCGCATGAGGT	0.607																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(3772-3774)cgC>cgA		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						86.0	76.0	79.0					19																	7117406		2203	4300	6503	SO:0001819	synonymous_variant	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7117406G>T	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3810C>A	19.37:g.7117406G>T						INSR_ENST00000302850.5_Silent_p.R1270R	p.R1258R	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			21	3813	-			1270			Protein kinase.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.3774C>A	CCDS12176.1																																																																																				0.607	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			31	42	1	0	8.4185e-14	1	8.93473e-14	31	42				
KCNT2	343450	broad.mit.edu	37	1	196251476	196251476	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:196251476T>A	ENST00000294725.9	-	24	3623	c.2708A>T	c.(2707-2709)aAg>aTg	p.K903M	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.K829M|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.K829M|KCNT2_ENST00000367433.5_Missense_Mutation_p.K879M			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	903					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CATATAATCCTTCACAAATGA	0.313																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2635-2637)aAg>aTg		potassium channel, subfamily T, member 2							58.0	66.0	63.0					1																	196251476		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196251476T>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2708A>T	1.37:g.196251476T>A	ENSP00000294725:p.Lys903Met					KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.K903M|KCNT2_ENST00000367431.4_Missense_Mutation_p.K829M	p.K879M			Q6UVM3	KCNT2_HUMAN			23	2737	-			903					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2636A>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.474877	0.84640	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.80304	-1.36;-1.36;-1.36	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000003	D	0.90710	0.7085	M	0.87269	2.87	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.999;1.0;1.0;0.998	D;D;D;D;D	0.76575	0.953;0.979;0.988;0.988;0.953	D	0.91133	0.4939	10	0.48119	T	0.1	-22.3078	15.7887	0.78332	0.0:0.0:0.0:1.0	.	903;861;879;829;903	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	M	879;829;903	ENSP00000356403:K879M;ENSP00000356401:K829M;ENSP00000294725:K903M	ENSP00000294725:K903M	K	-	2	0	KCNT2	194518099	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.404000	0.79996	2.367000	0.80283	0.528000	0.53228	AAG		0.313	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		12	55	0	0	0	1	0	12	55				
TRPV1	7442	broad.mit.edu	37	17	3481024	3481024	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:3481024C>T	ENST00000571088.1	-	11	1794	c.1581G>A	c.(1579-1581)gtG>gtA	p.V527V	TRPV1_ENST00000310522.5_Silent_p.V467V|RP11-235E17.3_ENST00000573568.1_RNA|TRPV1_ENST00000174621.6_Silent_p.V525V|TRPV1_ENST00000399759.3_Silent_p.V527V|TRPV1_ENST00000425167.2_Silent_p.V538V|SHPK_ENST00000572705.1_Silent_p.V527V|TRPV1_ENST00000576351.1_Silent_p.V517V|TRPV1_ENST00000399756.4_Silent_p.V527V	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	527					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGTACAGCACCACGGTGGCCA	0.587																																					Melanoma(38;962 1762 15789)	ENST00000174621.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1573-1575)gtG>gtA		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						39.0	44.0	42.0					17																	3481024		2093	4212	6305	SO:0001819	synonymous_variant	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3481024C>T	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1581G>A	17.37:g.3481024C>T						TRPV1_ENST00000576351.1_Silent_p.V517V|TRPV1_ENST00000399759.3_Silent_p.V527V|TRPV1_ENST00000425167.2_Silent_p.V538V|TRPV1_ENST00000399756.4_Silent_p.V527V|TRPV1_ENST00000571088.1_Silent_p.V527V|SHPK_ENST00000572705.1_Silent_p.V527V|TRPV1_ENST00000310522.5_Silent_p.V467V	p.V525V			Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	10	1864	-			527					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Silent	SNP	ENST00000571088.1	37	c.1575G>A	CCDS45576.1																																																																																				0.587	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		13	5	0	0	0	1	0	13	5				
EP300	2033	broad.mit.edu	37	22	41566478	41566478	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:41566478C>T	ENST00000263253.7	+	27	5574	c.4355C>T	c.(4354-4356)cCt>cTt	p.P1452L	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1452	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.P1452H(1)|p.P1452L(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CATTGCCATCCTCCTGACCAG	0.433			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		2	Substitution - Missense(2)	p.P1452H(1)|p.P1452L(1)	upper_aerodigestive_tract(1)|skin(1)	NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(4354-4356)cCt>cTt		E1A binding protein p300							147.0	129.0	135.0					22																	41566478		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41566478C>T	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4355C>T	22.37:g.41566478C>T	ENSP00000263253:p.Pro1452Leu					RP1-85F18.6_ENST00000415054.1_RNA	p.P1452L	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			27	5574	+			1452					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4355C>T	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224257	0.79576	.	.	ENSG00000100393	ENST00000263253	D	0.97924	-4.61	5.5	4.46	0.54185	.	0.140206	0.32287	N	0.006308	D	0.98795	0.9594	H	0.96805	3.885	0.80722	D	1	P	0.51537	0.946	P	0.51974	0.686	D	0.99072	1.0834	10	0.87932	D	0	-6.9834	16.0942	0.81110	0.0:0.8658:0.1342:0.0	.	1452	Q09472	EP300_HUMAN	L	1452	ENSP00000263253:P1452L	ENSP00000263253:P1452L	P	+	2	0	EP300	39896424	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.734000	0.84928	1.276000	0.44395	0.655000	0.94253	CCT		0.433	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		84	75	0	0	0	1	0	84	75				
ZNF189	7743	broad.mit.edu	37	9	104171756	104171756	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:104171756A>C	ENST00000339664.2	+	3	1835	c.1706A>C	c.(1705-1707)aAg>aCg	p.K569T	ZNF189_ENST00000259395.4_Missense_Mutation_p.K527T|ZNF189_ENST00000374861.3_Missense_Mutation_p.K555T	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	569					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAACCTTATAAGTGTGAGAAG	0.438																																						ENST00000374861.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26						c.(1663-1665)aAg>aCg		zinc finger protein 189							70.0	73.0	72.0					9																	104171756		2203	4300	6503	SO:0001583	missense	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104171756A>C	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.1706A>C	9.37:g.104171756A>C	ENSP00000342019:p.Lys569Thr					ZNF189_ENST00000339664.2_Missense_Mutation_p.K569T|ZNF189_ENST00000259395.4_Missense_Mutation_p.K527T	p.K555T	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN			3	1948	+		Acute lymphoblastic leukemia(62;0.0559)	569					O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	c.1664A>C	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	A	9.961	1.222919	0.22457	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.18810	2.19;2.19;2.19	4.59	3.47	0.39725	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.133611	0.34603	N	0.003839	T	0.14787	0.0357	N	0.26162	0.8	0.24385	N	0.994777	B;B;B	0.16396	0.017;0.007;0.003	B;B;B	0.32211	0.044;0.142;0.03	T	0.17048	-1.0382	10	0.49607	T	0.09	.	4.4007	0.11385	0.6944:0.2022:0.1034:0.0	.	554;555;569	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	T	555;569;527	ENSP00000363995:K555T;ENSP00000342019:K569T;ENSP00000259395:K527T	ENSP00000259395:K527T	K	+	2	0	ZNF189	103211577	0.000000	0.05858	0.999000	0.59377	0.997000	0.91878	-0.168000	0.09925	1.099000	0.41499	0.528000	0.53228	AAG		0.438	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		19	99	0	0	0	1	0	19	99				
ZNF512	84450	broad.mit.edu	37	2	27840415	27840415	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:27840415C>T	ENST00000355467.4	+	13	1455	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	ZNF512_ENST00000413371.2_Missense_Mutation_p.H381Y|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Missense_Mutation_p.H457Y|ZNF512_ENST00000416005.2_Missense_Mutation_p.H429Y|ZNF512_ENST00000556601.1_Missense_Mutation_p.H327Y	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	458					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)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					TGTCAAGTATCACATCAACTC	0.403																																						ENST00000355467.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1372-1374)Cac>Tac		zinc finger protein 512							119.0	105.0	109.0					2																	27840415		2203	4300	6503	SO:0001583	missense	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27840415C>T	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.1372C>T	2.37:g.27840415C>T	ENSP00000347648:p.His458Tyr					RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Missense_Mutation_p.H381Y|ZNF512_ENST00000556601.1_Missense_Mutation_p.H327Y|ZNF512_ENST00000416005.2_Missense_Mutation_p.H429Y|ZNF512_ENST00000379717.1_Missense_Mutation_p.H457Y	p.H458Y			Q96ME7	ZN512_HUMAN			13	1455	+	Acute lymphoblastic leukemia(172;0.155)		458					B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP	ENST00000355467.4	37	c.1372C>T	CCDS1758.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840050	0.91117	.	.	ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000556601;ENST00000416005;ENST00000413371	.	.	.	5.68	5.68	0.88126	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.67571	0.2907	L	0.34521	1.04	0.58432	D	0.99999	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.81914	0.995;0.995;0.995	T	0.69928	-0.5012	9	0.87932	D	0	-13.3637	16.5112	0.84286	0.0:1.0:0.0:0.0	.	353;429;458	B4DES6;B4DSM5;Q96ME7	.;.;ZN512_HUMAN	Y	457;458;327;429;381	.	ENSP00000347648:H458Y	H	+	1	0	ZNF512	27693919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.516000	0.73755	2.675000	0.91044	0.655000	0.94253	CAC		0.403	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434		16	89	0	0	0	1	0	16	89				
GPR101	83550	broad.mit.edu	37	X	136113301	136113301	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:136113301C>T	ENST00000298110.1	-	1	532	c.533G>A	c.(532-534)cGc>cAc	p.R178H		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GAGAGCATTGCGCTCATCAAA	0.587																																						ENST00000298110.1																			0				autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42						c.(532-534)cGc>cAc		G protein-coupled receptor 101							50.0	43.0	45.0					X																	136113301		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113301C>T	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.533G>A	X.37:g.136113301C>T	ENSP00000298110:p.Arg178His						p.R178H	NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN			1	532	-	Acute lymphoblastic leukemia(192;0.000127)		178					Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.533G>A	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	7.729	0.698903	0.15106	.	.	ENSG00000165370	ENST00000298110	T	0.36699	1.24	5.13	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.241548	0.21804	N	0.068871	T	0.25791	0.0628	L	0.36672	1.1	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.17930	-1.0353	10	0.52906	T	0.07	-15.2641	6.7532	0.23499	0.0:0.6648:0.0:0.3351	.	178	Q96P66	GP101_HUMAN	H	178	ENSP00000298110:R178H	ENSP00000298110:R178H	R	-	2	0	GPR101	135940967	0.163000	0.22920	0.998000	0.56505	0.996000	0.88848	0.449000	0.21744	0.946000	0.37632	0.600000	0.82982	CGC		0.587	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			33	14	0	0	0	1	0	33	14				
FAR2	55711	broad.mit.edu	37	12	29485599	29485599	+	Nonsense_Mutation	SNP	A	A	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:29485599A>T	ENST00000536681.3	+	11	1570	c.1324A>T	c.(1324-1326)Aaa>Taa	p.K442*	FAR2_ENST00000547116.1_Nonsense_Mutation_p.K345*|FAR2_ENST00000182377.4_Nonsense_Mutation_p.K442*	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	442					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TTTGGGAGTTAAAAAATACTT	0.358																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(1324-1326)Aaa>Taa		fatty acyl CoA reductase 2							69.0	70.0	70.0					12																	29485599		2203	4300	6503	SO:0001587	stop_gained	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29485599A>T	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.1324A>T	12.37:g.29485599A>T	ENSP00000443291:p.Lys442*					FAR2_ENST00000536681.2_Nonsense_Mutation_p.K442*|FAR2_ENST00000547116.1_Nonsense_Mutation_p.K345*	p.K442*	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			11	1592	+			442					F8VV73|Q9H0D5|Q9NVW8	Nonsense_Mutation	SNP	ENST00000536681.3	37	c.1324A>T	CCDS8717.1	.	.	.	.	.	.	.	.	.	.	A	37	6.097569	0.97281	.	.	ENSG00000064763	ENST00000536681;ENST00000182377;ENST00000547116;ENST00000551193	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-15.0394	12.6275	0.56638	1.0:0.0:0.0:0.0	.	.	.	.	X	442;442;345;30	.	ENSP00000182377:K442X	K	+	1	0	FAR2	29376866	1.000000	0.71417	0.982000	0.44146	0.002000	0.02628	8.850000	0.92190	2.137000	0.66172	0.533000	0.62120	AAA		0.358	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		36	76	0	0	0	1	0	36	76				
MFNG	4242	broad.mit.edu	37	22	37876266	37876266	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:37876266C>T	ENST00000356998.3	-	3	599	c.376G>A	c.(376-378)Gag>Aag	p.E126K	MFNG_ENST00000416983.3_Missense_Mutation_p.E112K	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	126					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					GTGTCGAACTCAGCAGCCATC	0.597																																						ENST00000356998.3																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(376-378)Gag>Aag		MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							103.0	84.0	90.0					22																	37876266		2203	4300	6503	SO:0001583	missense	4242				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr22:37876266C>T	BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"""Beta 3-glycosyltransferases"""	7038	protein-coding gene	gene with protein product		602577	"""manic fringe (Drosophila) homolog"", ""manic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.376G>A	22.37:g.37876266C>T	ENSP00000349490:p.Glu126Lys					MFNG_ENST00000416983.3_Missense_Mutation_p.E112K	p.E126K	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN			3	599	-	Melanoma(58;0.0574)		126					B4DLT6|O43730|Q504S9	Missense_Mutation	SNP	ENST00000356998.3	37	c.376G>A	CCDS13947.1	.	.	.	.	.	.	.	.	.	.	C	35	5.452883	0.96223	.	.	ENSG00000100060	ENST00000416983;ENST00000356998;ENST00000436341;ENST00000442496	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.82728	0.5100	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86332	0.1699	10	0.87932	D	0	-28.8464	17.5083	0.87753	0.0:1.0:0.0:0.0	.	112;126	B4DLT6;O00587	.;MFNG_HUMAN	K	112;126;4;4	ENSP00000413855:E112K;ENSP00000349490:E126K;ENSP00000394081:E4K;ENSP00000389274:E4K	ENSP00000349490:E126K	E	-	1	0	MFNG	36206212	1.000000	0.71417	0.707000	0.30419	0.936000	0.57629	7.111000	0.77077	2.434000	0.82447	0.462000	0.41574	GAG		0.597	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405		21	61	0	0	0	1	0	21	61				
OR11A1	26531	broad.mit.edu	37	6	29394830	29394830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:29394830G>A	ENST00000377149.1	-	5	1061	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Nonsense_Mutation_p.Q197*|OR11A1_ENST00000377148.1_Nonsense_Mutation_p.Q197*			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GTTGTCACCTGAGCCACTCTG	0.512																																						ENST00000377149.1																			0				cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(589-591)Cag>Tag		olfactory receptor, family 11, subfamily A, member 1							51.0	50.0	50.0					6																	29394830		1509	2707	4216	SO:0001587	stop_gained	26531				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29394830G>A		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.589C>T	6.37:g.29394830G>A	ENSP00000366354:p.Gln197*					OR11A1_ENST00000377147.2_Nonsense_Mutation_p.Q197*|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Nonsense_Mutation_p.Q197*	p.Q197*			Q9GZK7	O11A1_HUMAN			5	1061	-			197					A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Nonsense_Mutation	SNP	ENST00000377149.1	37	c.589C>T	CCDS34363.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136512	0.94517	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	.	.	.	3.81	3.81	0.43845	.	0.991291	0.08170	N	0.987117	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-1.9431	10.0408	0.42158	0.0:0.3412:0.6588:0.0	.	.	.	.	X	197	.	ENSP00000366352:Q197X	Q	-	1	0	OR11A1	29502809	0.003000	0.15002	1.000000	0.80357	0.207000	0.24258	0.998000	0.29744	1.931000	0.55961	0.411000	0.27672	CAG		0.512	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			9	38	0	0	0	1	0	9	38				
TLR4	7099	broad.mit.edu	37	9	120475135	120475135	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:120475135G>T	ENST00000355622.6	+	3	830	c.729G>T	c.(727-729)atG>atT	p.M243I	TLR4_ENST00000394487.4_Missense_Mutation_p.M203I|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	243					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TAAATGTAATGAAAACTTGTA	0.348																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(727-729)atG>atT		toll-like receptor 4							58.0	64.0	62.0					9																	120475135		2183	4293	6476	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475135G>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.729G>T	9.37:g.120475135G>T	ENSP00000363089:p.Met243Ile					TLR4_ENST00000394487.4_Missense_Mutation_p.M203I|TLR4_ENST00000472304.1_3'UTR	p.M243I	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	830	+			243					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.729G>T	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967252	0.53507	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.36520	1.56;1.25	5.71	4.81	0.61882	.	0.131649	0.56097	D	0.000040	T	0.45357	0.1338	M	0.77486	2.375	0.37171	D	0.903062	P	0.42871	0.792	B	0.44315	0.446	T	0.54180	-0.8332	10	0.37606	T	0.19	.	14.1151	0.65149	0.0719:0.0:0.9281:0.0	.	243	O00206	TLR4_HUMAN	I	203;243	ENSP00000377997:M203I;ENSP00000363089:M243I	ENSP00000363089:M243I	M	+	3	0	TLR4	119514956	1.000000	0.71417	0.997000	0.53966	0.840000	0.47671	4.259000	0.58828	2.694000	0.91930	0.609000	0.83330	ATG		0.348	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		74	54	1	0	9.98788e-38	1	1.09091e-37	74	54				
FRG1B	284802	broad.mit.edu	37	20	29628270	29628270	+	Missense_Mutation	SNP	G	G	A	rs545391756	byFrequency	TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr20:29628270G>A	ENST00000278882.3	+	6	652	c.272G>A	c.(271-273)tGc>tAc	p.C91Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.C96Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.C91Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	91										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTTATTAGATGCAATGAAGCA	0.363													.|||	3	0.000599042	0.0	0.0029	5008	,	,		60821	0.001		0.0	False		,,,				2504	0.0					ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(271-273)tGc>tAc																																						SO:0001583	missense	284802							g.chr20:29628270G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.272G>A	20.37:g.29628270G>A	ENSP00000278882:p.Cys91Tyr					FRG1B_ENST00000439954.2_Missense_Mutation_p.C96Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.C91Y	p.C91Y							6	652	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.272G>A		.	.	.	.	.	.	.	.	.	.	g	4.726	0.135070	0.09032	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.43294	0.95	2.08	2.08	0.27032	Actin cross-linking (1);	0.051706	0.85682	D	0.000000	T	0.39545	0.1082	.	.	.	0.29852	N	0.828316	B;P	0.40970	0.008;0.734	B;P	0.46850	0.036;0.529	T	0.31668	-0.9935	9	0.34782	T	0.22	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	96;91	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	Y	91;96;91	ENSP00000408863:C96Y	ENSP00000278882:C91Y	C	+	2	0	FRG1B	28241931	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.129000	0.64739	1.475000	0.48197	0.423000	0.28283	TGC		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	182	0	0	0	1	0	7	182				
FBXO8	26269	broad.mit.edu	37	4	175162265	175162265	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr4:175162265G>C	ENST00000393674.2	-	4	1423	c.561C>G	c.(559-561)atC>atG	p.I187M	FBXO8_ENST00000503293.1_Missense_Mutation_p.I146M	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	187	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		CATCAAGATAGATTCTCAGTT	0.299																																						ENST00000393674.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(559-561)atC>atG		F-box protein 8							99.0	94.0	96.0					4																	175162265		2202	4297	6499	SO:0001583	missense	26269				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	g.chr4:175162265G>C	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"""F-boxes /  ""other"""""	13587	protein-coding gene	gene with protein product		605649	"""F-box only protein 8"""			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.561C>G	4.37:g.175162265G>C	ENSP00000377280:p.Ile187Met					FBXO8_ENST00000503293.1_Missense_Mutation_p.I146M	p.I187M	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	4	1423	-		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	187			SEC7.		B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Missense_Mutation	SNP	ENST00000393674.2	37	c.561C>G	CCDS3820.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018599	0.35606	.	.	ENSG00000164117	ENST00000393674;ENST00000503293;ENST00000296517	T;T	0.54479	0.57;0.57	5.25	3.53	0.40419	SEC7-like (4);	0.055536	0.64402	D	0.000001	T	0.44953	0.1318	L	0.47716	1.5	0.43522	D	0.99579	P;P	0.42161	0.613;0.772	B;B	0.37780	0.118;0.258	T	0.46816	-0.9164	10	0.87932	D	0	.	12.1864	0.54241	0.1404:0.0:0.8596:0.0	.	146;187	G5E9Z0;Q9NRD0	.;FBX8_HUMAN	M	187;146;100	ENSP00000377280:I187M;ENSP00000422905:I146M	ENSP00000296517:I100M	I	-	3	3	FBXO8	175398840	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.590000	0.46154	0.714000	0.32081	0.650000	0.86243	ATC		0.299	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180		10	63	0	0	0	1	0	10	63				
PHF1	5252	broad.mit.edu	37	6	33383663	33383663	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:33383663T>C	ENST00000374516.3	+	15	1763	c.1492T>C	c.(1492-1494)Tcc>Ccc	p.S498P	CUTA_ENST00000492510.1_5'Flank|PHF1_ENST00000374512.3_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	498					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TGCCTCATCTTCCTCAGTTTC	0.567																																						ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1492-1494)Tcc>Ccc		PHD finger protein 1							130.0	114.0	120.0					6																	33383663		2203	4300	6503	SO:0001583	missense	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33383663T>C	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1492T>C	6.37:g.33383663T>C	ENSP00000363640:p.Ser498Pro					PHF1_ENST00000374512.3_3'UTR	p.S498P	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			15	1763	+		Ovarian(999;0.0443)	498					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	c.1492T>C	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	T	12.31	1.900633	0.33535	.	.	ENSG00000112511	ENST00000374516;ENST00000427826	T	0.25749	1.78	4.69	4.69	0.59074	.	0.205380	0.33938	N	0.004416	T	0.09291	0.0229	N	0.14661	0.345	0.34765	D	0.733138	D	0.54964	0.969	P	0.47573	0.55	T	0.09530	-1.0670	9	.	.	.	-15.9376	10.4807	0.44691	0.0:0.0:0.0:1.0	.	498	O43189	PHF1_HUMAN	P	498;112	ENSP00000363640:S498P	.	S	+	1	0	PHF1	33491641	0.794000	0.28838	1.000000	0.80357	0.965000	0.64279	0.826000	0.27407	1.981000	0.57761	0.533000	0.62120	TCC		0.567	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			4	206	0	0	0	1	0	4	206				
SASH3	54440	broad.mit.edu	37	X	128927005	128927005	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:128927005T>G	ENST00000356892.3	+	7	956	c.842T>G	c.(841-843)cTg>cGg	p.L281R	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	281	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						TACCAGACACTGGAAGACTTC	0.597																																						ENST00000356892.3																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(841-843)cTg>cGg		SAM and SH3 domain containing 3							101.0	77.0	85.0					X																	128927005		2203	4300	6503	SO:0001583	missense	54440							g.chrX:128927005T>G	BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	15975	protein-coding gene	gene with protein product		300441	"""chromosome X open reading frame 9"""	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.842T>G	X.37:g.128927005T>G	ENSP00000349359:p.Leu281Arg						p.L281R	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN			7	956	+			281			SAM.		A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	ENST00000356892.3	37	c.842T>G	CCDS14614.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.421046	0.83559	.	.	ENSG00000122122	ENST00000443760;ENST00000356892	D	0.85955	-2.05	5.66	5.66	0.87406	Src homology-3 domain (1);Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.070349	0.64402	D	0.000014	D	0.93311	0.7868	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.94432	0.7650	10	0.87932	D	0	-23.033	14.6255	0.68618	0.0:0.0:0.0:1.0	.	299;281	B4DKQ0;O75995	.;SASH3_HUMAN	R	299;281	ENSP00000349359:L281R	ENSP00000349359:L281R	L	+	2	0	SASH3	128754686	1.000000	0.71417	0.940000	0.37924	0.879000	0.50718	7.698000	0.84413	1.914000	0.55421	0.430000	0.28490	CTG		0.597	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058208.1	NM_018990		57	29	0	0	0	1	0	57	29				
PYGL	5836	broad.mit.edu	37	14	51376671	51376671	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr14:51376671C>G	ENST00000216392.7	-	17	2451	c.2119G>C	c.(2119-2121)Gag>Cag	p.E707Q	RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000532462.1_Missense_Mutation_p.E707Q|PYGL_ENST00000544180.2_Missense_Mutation_p.E673Q	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	707					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	AACAGGTTCTCTTCCCCAGCT	0.507																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(2119-2121)Gag>Cag		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						255.0	237.0	243.0					14																	51376671		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51376671C>G		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2119G>C	14.37:g.51376671C>G	ENSP00000216392:p.Glu707Gln					PYGL_ENST00000532462.1_Missense_Mutation_p.E707Q|PYGL_ENST00000544180.2_Missense_Mutation_p.E673Q	p.E707Q	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			17	2451	-	all_epithelial(31;0.00825)|Breast(41;0.148)		707					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.2119G>C	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086725	0.76642	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.94280	-3.39;-3.39;-3.39	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.94338	0.8180	M	0.82630	2.6	0.58432	D	0.999999	B;B;P	0.34522	0.272;0.319;0.455	B;B;B	0.36922	0.152;0.236;0.185	D	0.93803	0.7103	10	0.59425	D	0.04	-29.5808	18.7866	0.91957	0.0:1.0:0.0:0.0	.	673;673;707	F5H816;B4DUB7;P06737	.;.;PYGL_HUMAN	Q	707;673;707	ENSP00000431657:E707Q;ENSP00000443787:E673Q;ENSP00000216392:E707Q	ENSP00000216392:E707Q	E	-	1	0	PYGL	50446421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.789000	0.95967	0.655000	0.94253	GAG		0.507	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		6	319	0	0	0	1	0	6	319				
NLGN1	22871	broad.mit.edu	37	3	173998628	173998628	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:173998628A>C	ENST00000457714.1	+	7	2436	c.2007A>C	c.(2005-2007)caA>caC	p.Q669H	NLGN1_ENST00000361589.4_Missense_Mutation_p.Q669H|NLGN1_ENST00000545397.1_Missense_Mutation_p.Q669H|NLGN1_ENST00000401917.3_Missense_Mutation_p.Q709H	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	686					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAGTGGATCAAAGGGACTACT	0.458																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2005-2007)caA>caC		neuroligin 1							99.0	102.0	101.0					3																	173998628		2203	4299	6502	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998628A>C	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2007A>C	3.37:g.173998628A>C	ENSP00000392500:p.Gln669His					NLGN1_ENST00000401917.3_Missense_Mutation_p.Q709H|NLGN1_ENST00000361589.4_Missense_Mutation_p.Q669H|NLGN1_ENST00000545397.1_Missense_Mutation_p.Q669H	p.Q669H	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2436	+	Ovarian(172;0.0025)		686					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.2007A>C	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.094413	0.76870	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.66995	-0.23;-0.23;-0.23;-0.24	5.69	-1.1	0.09872	.	0.000000	0.85682	D	0.000000	T	0.67869	0.2939	L	0.40543	1.245	0.47905	D	0.999545	B	0.27882	0.192	P	0.49276	0.605	T	0.64765	-0.6330	10	0.54805	T	0.06	.	10.7049	0.45950	0.6962:0.0:0.3038:0.0	.	669	Q8N2Q7-2	.	H	669;669;669;709	ENSP00000392500:Q669H;ENSP00000354541:Q669H;ENSP00000441108:Q669H;ENSP00000385750:Q709H	ENSP00000354541:Q669H	Q	+	3	2	NLGN1	175481322	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	1.981000	0.40628	-0.326000	0.08564	-0.993000	0.02533	CAA		0.458	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		10	162	0	0	0	1	0	10	162				
KIAA1429	25962	broad.mit.edu	37	8	95508575	95508575	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr8:95508575T>A	ENST00000297591.5	-	18	4439	c.4364A>T	c.(4363-4365)gAa>gTa	p.E1455V	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1455					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTTCTCTAGTTCAAGGAACAA	0.373																																						ENST00000297591.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(4363-4365)gAa>gTa		KIAA1429							73.0	68.0	70.0					8																	95508575		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95508575T>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4364A>T	8.37:g.95508575T>A	ENSP00000297591:p.Glu1455Val					KIAA1429_ENST00000437199.1_3'UTR	p.E1455V	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		18	4439	-	Breast(36;3.29e-05)		1455					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.4364A>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	T	13.00	2.104918	0.37145	.	.	ENSG00000164944	ENST00000297591	T	0.67865	-0.29	5.47	5.47	0.80525	.	0.422956	0.25903	N	0.027555	T	0.54727	0.1876	N	0.22421	0.69	0.80722	D	1	B	0.25609	0.13	B	0.28232	0.087	T	0.51317	-0.8721	10	0.28530	T	0.3	-5.6995	15.5275	0.75923	0.0:0.0:0.0:1.0	.	1455	Q69YN4	VIR_HUMAN	V	1455	ENSP00000297591:E1455V	ENSP00000297591:E1455V	E	-	2	0	KIAA1429	95577751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.505000	0.66981	2.071000	0.62044	0.528000	0.53228	GAA		0.373	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		90	64	0	0	0	1	0	90	64				
SIK3	23387	broad.mit.edu	37	11	116767020	116767020	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:116767020G>A	ENST00000292055.4	-	6	675	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	SIK3_ENST00000434315.2_Missense_Mutation_p.R113W|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Missense_Mutation_p.R272W|SIK3_ENST00000542607.1_Missense_Mutation_p.R214W|SIK3_ENST00000446921.2_Missense_Mutation_p.R272W	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ACGCGGGCCCGCAGATTCTGC	0.512																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(814-816)Cgg>Tgg		SIK family kinase 3							98.0	94.0	95.0					11																	116767020		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116767020G>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.640C>T	11.37:g.116767020G>A	ENSP00000292055:p.Arg214Trp					SIK3_ENST00000542607.1_Missense_Mutation_p.R214W|SIK3_ENST00000446921.2_Missense_Mutation_p.R272W|SIK3_ENST00000434315.2_Missense_Mutation_p.R113W|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000292055.4_Missense_Mutation_p.R214W	p.R272W			Q9Y2K2	SIK3_HUMAN			6	819	-			214					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.814C>T	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.382086|5.382086	0.95967|0.95967	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921;ENST00000413553|ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	.|T;T;T;T	.|0.65364	.|-0.15;-0.15;-0.15;-0.15	5.49|5.49	5.49|5.49	0.81192|0.81192	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.38492	.|U	.|0.001667	T|T	0.78000|0.78000	0.4215|0.4215	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.999;1.0	T|T	0.79657|0.79657	-0.1712|-0.1712	5|10	.|0.87932	.|D	.|0	.|.	18.1137|18.1137	0.89543|0.89543	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|214;113;214	.|A1A5A8;A1A5A9;Q9Y2K2	.|.;.;SIK3_HUMAN	V|W	265;236;174|272;214;214;113	.|ENSP00000364449:R272W;ENSP00000292055:R214W;ENSP00000438108:R214W;ENSP00000415873:R113W	.|ENSP00000292055:R214W	A|R	-|-	2|1	0|2	SIK3|SIK3	116272230|116272230	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	6.364000|6.364000	0.73086|0.73086	2.580000|2.580000	0.87095|0.87095	0.563000|0.563000	0.77884|0.77884	GCG|CGG		0.512	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		5	155	0	0	0	1	0	5	155				
SYCN	342898	broad.mit.edu	37	19	39694707	39694707	+	Missense_Mutation	SNP	C	C	T	rs374430683		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:39694707C>T	ENST00000318438.6	-	1	199	c.188G>A	c.(187-189)gGc>gAc	p.G63D		NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	syncollin	63					exocytosis (GO:0006887)	secretory granule membrane (GO:0030667)				endometrium(1)|kidney(1)	2	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CAGGTCTGCGCCCGACTCCAG	0.667																																						ENST00000318438.6																			0				endometrium(1)|kidney(1)	2						c.(187-189)gGc>gAc		syncollin		C	ASP/GLY	0,4118		0,0,2059	18.0	22.0	21.0		188	0.5	0.1	19		21	1,8355		0,1,4177	no	missense	SYCN	NM_001080468.2	94	0,1,6236	TT,TC,CC		0.012,0.0,0.0080	benign	63/135	39694707	1,12473	2059	4178	6237	SO:0001583	missense	342898				exocytosis	transport vesicle membrane		g.chr19:39694707C>T	BC039541	CCDS46070.1	19q13.2	2008-02-05	2005-05-26			ENSG00000179751			18442	protein-coding gene	gene with protein product			"""insulin synthesis associated 1"""	INSSA1		11839820	Standard	NM_001080468		Approved	SYL, FLJ27441	uc002okr.2	Q0VAF6		ENST00000318438.6:c.188G>A	19.37:g.39694707C>T	ENSP00000325564:p.Gly63Asp						p.G63D	NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	199	-	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		63						Missense_Mutation	SNP	ENST00000318438.6	37	c.188G>A	CCDS46070.1	.	.	.	.	.	.	.	.	.	.	C	7.537	0.659814	0.14645	0.0	1.2E-4	ENSG00000179751	ENST00000318438	T	0.48522	0.81	3.97	0.495	0.16890	.	0.372534	0.23489	N	0.047630	T	0.33904	0.0879	L	0.41710	1.295	0.09310	N	0.999997	B	0.12630	0.006	B	0.12156	0.007	T	0.25328	-1.0135	10	0.59425	D	0.04	-2.3931	6.9764	0.24677	0.0:0.6559:0.0:0.3441	.	63	Q0VAF6	SYCN_HUMAN	D	63	ENSP00000325564:G63D	ENSP00000325564:G63D	G	-	2	0	SYCN	44386547	0.000000	0.05858	0.051000	0.19133	0.669000	0.39330	0.288000	0.18939	-0.001000	0.14495	0.491000	0.48974	GGC		0.667	SYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463830.1			8	53	0	0	0	1	0	8	53				
SLC5A11	115584	broad.mit.edu	37	16	24902354	24902354	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:24902354G>C	ENST00000347898.3	+	9	1451	c.829G>C	c.(829-831)Gga>Cga	p.G277R	SLC5A11_ENST00000545376.1_Missense_Mutation_p.G207R|SLC5A11_ENST00000539472.1_Missense_Mutation_p.G213R|SLC5A11_ENST00000565769.1_Missense_Mutation_p.G213R|SLC5A11_ENST00000567758.1_Missense_Mutation_p.G242R|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000568579.1_Missense_Mutation_p.G207R|SLC5A11_ENST00000424767.2_Missense_Mutation_p.G242R|SLC5A11_ENST00000569071.1_Intron	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GGTCCTATTTGGAATGTCCAT	0.562																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(829-831)Gga>Cga		solute carrier family 5 (sodium/inositol cotransporter), member 11							121.0	116.0	118.0					16																	24902354		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24902354G>C	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.829G>C	16.37:g.24902354G>C	ENSP00000289932:p.Gly277Arg					SLC5A11_ENST00000565769.1_Missense_Mutation_p.G213R|SLC5A11_ENST00000568579.1_Missense_Mutation_p.G207R|SLC5A11_ENST00000424767.2_Missense_Mutation_p.G242R|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000567758.1_Missense_Mutation_p.G242R|SLC5A11_ENST00000545376.1_Missense_Mutation_p.G207R|SLC5A11_ENST00000539472.1_Missense_Mutation_p.G213R|SLC5A11_ENST00000569071.1_Intron	p.G277R	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	9	1451	+			277						Missense_Mutation	SNP	ENST00000347898.3	37	c.829G>C	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138101	0.94560	.	.	ENSG00000158865	ENST00000347898;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	H	0.98542	4.26	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.967;1.0;1.0	D	0.98650	1.0679	10	0.66056	D	0.02	.	17.0849	0.86609	0.0:0.0:1.0:0.0	.	207;242;277	B7Z329;Q8WWX8-2;Q8WWX8	.;.;SC5AB_HUMAN	R	277;242;207;213	ENSP00000289932:G277R;ENSP00000416782:G242R;ENSP00000441384:G207R;ENSP00000441018:G213R	ENSP00000289932:G277R	G	+	1	0	SLC5A11	24809855	1.000000	0.71417	0.977000	0.42913	0.968000	0.65278	9.687000	0.98667	2.643000	0.89663	0.650000	0.86243	GGA		0.562	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		66	180	0	0	0	1	0	66	180				
CACNA1G	8913	broad.mit.edu	37	17	48646541	48646541	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:48646541A>G	ENST00000359106.5	+	3	370	c.370A>G	c.(370-372)Atc>Gtc	p.I124V	CACNA1G_ENST00000505165.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000510115.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000507510.2_Missense_Mutation_p.I124V|CACNA1G_ENST00000515411.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000514717.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000507336.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000513689.2_Missense_Mutation_p.I124V|CACNA1G_ENST00000515765.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000507609.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000514079.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000354983.4_Missense_Mutation_p.I124V|CACNA1G_ENST00000515165.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000360761.4_Missense_Mutation_p.I124V|CACNA1G_ENST00000429973.2_Missense_Mutation_p.I124V|CACNA1G_ENST00000352832.5_Missense_Mutation_p.I124V|CACNA1G_ENST00000358244.5_Missense_Mutation_p.I124V|CACNA1G_ENST00000442258.2_Missense_Mutation_p.I124V|CACNA1G_ENST00000507896.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000510366.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000513964.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000512389.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000502264.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000503485.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000416767.4_Missense_Mutation_p.I124V|CACNA1G_ENST00000514181.1_Missense_Mutation_p.I124V	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	124					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGATGACTTCATCTTTGCCTT	0.532																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(370-372)Atc>Gtc		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						132.0	125.0	127.0					17																	48646541		1998	4161	6159	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48646541A>G	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.370A>G	17.37:g.48646541A>G	ENSP00000352011:p.Ile124Val					CACNA1G_ENST00000360761.4_Missense_Mutation_p.I124V|CACNA1G_ENST00000514181.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000515165.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000515411.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000502264.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000507896.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000507510.2_Missense_Mutation_p.I124V|CACNA1G_ENST00000416767.4_Missense_Mutation_p.I124V|CACNA1G_ENST00000354983.4_Missense_Mutation_p.I124V|CACNA1G_ENST00000507336.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000358244.5_Missense_Mutation_p.I124V|CACNA1G_ENST00000507609.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000503485.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000510115.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000510366.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000505165.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000442258.2_Missense_Mutation_p.I124V|CACNA1G_ENST00000515765.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000513689.2_Missense_Mutation_p.I124V|CACNA1G_ENST00000514717.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000512389.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000514079.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000429973.2_Missense_Mutation_p.I124V|CACNA1G_ENST00000513964.1_Missense_Mutation_p.I124V|CACNA1G_ENST00000359106.5_Missense_Mutation_p.I124V	p.I124V	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		3	742	+	Breast(11;6.7e-17)		124					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.370A>G	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	a	19.47	3.833825	0.71258	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89	5.07	5.07	0.68467	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98178	0.9398	L	0.42245	1.32	0.58432	D	0.999999	P;P;D;P;D;P;P;D;P;P;D;D;D;P;P;P;D;D;D;D;P;D;D;D;D;D	0.89917	0.884;0.936;0.992;0.836;0.996;0.56;0.903;0.992;0.903;0.877;0.996;0.998;1.0;0.553;0.943;0.841;0.976;0.993;0.996;0.998;0.856;0.998;0.992;0.986;0.983;0.97	D;D;D;D;D;P;D;D;D;P;D;D;D;P;D;D;P;D;D;D;P;D;D;D;D;P	0.91635	0.911;0.959;0.996;0.955;0.996;0.615;0.941;0.996;0.941;0.739;0.994;0.998;0.999;0.705;0.941;0.911;0.73;0.984;0.996;0.999;0.881;0.999;0.994;0.953;0.981;0.61	D	0.98948	1.0793	10	0.49607	T	0.09	.	14.821	0.70074	1.0:0.0:0.0:0.0	.	124;124;124;124;124;124;124;124;124;124;124;124;124;124;124;124;124;124;124;124;124;124;124;124;124;124	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	V	124	ENSP00000353990:I124V;ENSP00000339302:I124V;ENSP00000392390:I124V;ENSP00000347078:I124V;ENSP00000409759:I124V;ENSP00000425522:I124V;ENSP00000426261:I124V;ENSP00000425451:I124V;ENSP00000422407:I124V;ENSP00000426814:I124V;ENSP00000427238:I124V;ENSP00000423112:I124V;ENSP00000420918:I124V;ENSP00000426172:I124V;ENSP00000423045:I124V;ENSP00000427173:I124V;ENSP00000426098:I124V;ENSP00000425698:I124V;ENSP00000426232:I124V;ENSP00000423317:I124V;ENSP00000350979:I124V;ENSP00000352011:I124V;ENSP00000414388:I124V;ENSP00000423155:I124V;ENSP00000422268:I124V;ENSP00000421518:I124V	ENSP00000339302:I124V	I	+	1	0	CACNA1G	46001540	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.323000	0.96364	1.913000	0.55393	0.334000	0.21626	ATC		0.532	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		23	36	0	0	0	1	0	23	36				
GTF3C1	2975	broad.mit.edu	37	16	27475887	27475887	+	Missense_Mutation	SNP	C	C	T	rs144086944		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:27475887C>T	ENST00000356183.4	-	34	5641	c.5626G>A	c.(5626-5628)Gag>Aag	p.E1876K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E1876K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1876					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGGGTGCCCTCGGCGTCGGTC	0.692													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13569	0.0		0.0	False		,,,				2504	0.0					ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(5626-5628)Gag>Aag		general transcription factor IIIC, polypeptide 1, alpha 220kDa		C	LYS/GLU	0,4394		0,0,2197	46.0	57.0	53.0		5626	0.4	0.0	16	dbSNP_134	53	5,8595	4.3+/-15.6	0,5,4295	yes	missense	GTF3C1	NM_001520.3	56	0,5,6492	TT,TC,CC		0.0581,0.0,0.0385	benign	1876/2110	27475887	5,12989	2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27475887C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5626G>A	16.37:g.27475887C>T	ENSP00000348510:p.Glu1876Lys					GTF3C1_ENST00000561623.1_Missense_Mutation_p.E1876K	p.E1876K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			34	5641	-			1876					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.5626G>A	CCDS32414.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.55	1.972864	0.34848	0.0	5.81E-4	ENSG00000077235	ENST00000356183	T	0.26957	1.7	4.65	0.38	0.16222	.	1.127780	0.06620	N	0.757258	T	0.17662	0.0424	L	0.38838	1.175	0.09310	N	1	B;B	0.32526	0.032;0.374	B;B	0.23419	0.003;0.046	T	0.23261	-1.0193	10	0.52906	T	0.07	-22.4553	5.2632	0.15586	0.0:0.6076:0.1508:0.2415	.	1876;1876	Q12789;Q12789-3	TF3C1_HUMAN;.	K	1876	ENSP00000348510:E1876K	ENSP00000348510:E1876K	E	-	1	0	GTF3C1	27383388	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.254000	0.18314	-0.154000	0.11118	0.407000	0.27541	GAG		0.692	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		29	141	0	0	0	1	0	29	141				
GABRE	2564	broad.mit.edu	37	X	151123412	151123412	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrX:151123412G>A	ENST00000370328.3	-	9	1335	c.1282C>T	c.(1282-1284)Ccc>Tcc	p.P428S	GABRE_ENST00000370325.1_3'UTR|AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	428					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGGCTAGGGGGCTGCTGGGCT	0.607																																						ENST00000370328.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(1282-1284)Ccc>Tcc		gamma-aminobutyric acid (GABA) A receptor, epsilon							32.0	29.0	30.0					X																	151123412		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151123412G>A	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1282C>T	X.37:g.151123412G>A	ENSP00000359353:p.Pro428Ser					GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	p.P428S	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN			9	1335	-	Acute lymphoblastic leukemia(192;6.56e-05)		428					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.1282C>T	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.580792	0.00879	.	.	ENSG00000102287	ENST00000370328	D	0.84589	-1.87	3.9	-7.8	0.01214	Neurotransmitter-gated ion-channel transmembrane domain (2);	4.501070	0.00508	N	0.000160	T	0.68943	0.3056	N	0.25332	0.735	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.61574	-0.7035	10	0.13470	T	0.59	.	1.8414	0.03150	0.169:0.4167:0.1874:0.2269	.	428	P78334	GBRE_HUMAN	S	428	ENSP00000359353:P428S	ENSP00000359353:P428S	P	-	1	0	GABRE	150874068	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.508000	0.06344	-2.380000	0.00594	-0.354000	0.07668	CCC		0.607	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		16	6	0	0	0	1	0	16	6				
TECTA	7007	broad.mit.edu	37	11	120998954	120998954	+	Silent	SNP	G	G	A	rs200686885		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:120998954G>A	ENST00000392793.1	+	9	2539	c.2268G>A	c.(2266-2268)aaG>aaA	p.K756K	TECTA_ENST00000264037.2_Silent_p.K756K			O75443	TECTA_HUMAN	tectorin alpha	756	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACATCAACAAGAAGAAGCCCG	0.602																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(2266-2268)aaG>aaA		tectorin alpha							66.0	70.0	69.0					11																	120998954		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120998954G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2268G>A	11.37:g.120998954G>A						TECTA_ENST00000264037.2_Silent_p.K756K	p.K756K			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	9	2539	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	756			VWFD 2.			Silent	SNP	ENST00000392793.1	37	c.2268G>A	CCDS8434.1																																																																																				0.602	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		5	88	0	0	0	1	0	5	88				
A1CF	29974	broad.mit.edu	37	10	52595975	52595975	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr10:52595975C>T	ENST00000373993.1	-	4	507	c.463G>A	c.(463-465)Gag>Aag	p.E155K	A1CF_ENST00000373995.3_Missense_Mutation_p.E163K|A1CF_ENST00000395495.1_Missense_Mutation_p.E155K|A1CF_ENST00000374001.2_Missense_Mutation_p.E155K|A1CF_ENST00000395489.2_Missense_Mutation_p.E148K|A1CF_ENST00000373997.3_Missense_Mutation_p.E155K|A1CF_ENST00000282641.2_Missense_Mutation_p.E155K			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	155	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTTTCATCTCCGATAAGATT	0.468																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(442-444)Gag>Aag		APOBEC1 complementation factor							133.0	131.0	131.0					10																	52595975		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52595975C>T	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.463G>A	10.37:g.52595975C>T	ENSP00000363105:p.Glu155Lys					A1CF_ENST00000282641.2_Missense_Mutation_p.E155K|A1CF_ENST00000373997.3_Missense_Mutation_p.E155K|A1CF_ENST00000373995.3_Missense_Mutation_p.E163K|A1CF_ENST00000374001.1_Missense_Mutation_p.E155K|A1CF_ENST00000373993.1_Missense_Mutation_p.E155K|A1CF_ENST00000395495.1_Missense_Mutation_p.E155K	p.E148K	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			8	838	-			155			RRM 2.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.442G>A	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	35	5.467698	0.96257	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489;ENST00000414883	T;T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38	6.04	6.04	0.98038	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.45836	0.1362	M	0.77820	2.39	0.80722	D	1	P;P;D;P	0.76494	0.863;0.775;0.999;0.933	P;P;D;P	0.87578	0.848;0.807;0.998;0.894	T	0.23297	-1.0192	10	0.52906	T	0.07	-10.9411	18.0887	0.89466	0.0:1.0:0.0:0.0	.	148;155;155;163	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	K	155;155;155;163;155;155;138;148;155	ENSP00000363113:E155K;ENSP00000363105:E155K;ENSP00000363109:E155K;ENSP00000363107:E163K;ENSP00000282641:E155K;ENSP00000378873:E155K;ENSP00000378868:E148K;ENSP00000397953:E155K	ENSP00000282641:E155K	E	-	1	0	A1CF	52265981	1.000000	0.71417	0.972000	0.41901	0.874000	0.50279	7.731000	0.84895	2.873000	0.98535	0.563000	0.77884	GAG		0.468	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		25	369	0	0	0	1	0	25	369				
C17orf74	201243	broad.mit.edu	37	17	7330661	7330661	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:7330661A>T	ENST00000333870.3	+	3	1425	c.1351A>T	c.(1351-1353)Aat>Tat	p.N451Y	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	451						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACTCAGCCGGAATCCAGGGGG	0.642																																						ENST00000333870.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22						c.(1351-1353)Aat>Tat		chromosome 17 open reading frame 74							41.0	46.0	44.0					17																	7330661		2077	4198	6275	SO:0001583	missense	201243					integral to membrane		g.chr17:7330661A>T	BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.1351A>T	17.37:g.7330661A>T	ENSP00000328061:p.Asn451Tyr					C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	p.N451Y	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN			3	1425	+		Prostate(122;0.157)	451						Missense_Mutation	SNP	ENST00000333870.3	37	c.1351A>T	CCDS42255.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992679	0.54041	.	.	ENSG00000184560	ENST00000333870	T	0.39229	1.09	4.68	4.68	0.58851	.	0.996321	0.08122	N	0.994542	T	0.51193	0.1660	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.63192	0.912	T	0.38887	-0.9640	10	0.87932	D	0	-7.2248	10.6783	0.45799	1.0:0.0:0.0:0.0	.	451	Q0P670	CQ074_HUMAN	Y	451	ENSP00000328061:N451Y	ENSP00000328061:N451Y	N	+	1	0	C17orf74	7271385	0.975000	0.34042	0.880000	0.34516	0.960000	0.62799	2.607000	0.46300	2.094000	0.63399	0.402000	0.26972	AAT		0.642	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440933.2	NM_175734		33	32	0	0	0	1	0	33	32				
PRUNE2	158471	broad.mit.edu	37	9	79323209	79323209	+	Silent	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr9:79323209C>T	ENST00000376718.3	-	8	4104	c.3981G>A	c.(3979-3981)gaG>gaA	p.E1327E	PRUNE2_ENST00000428286.1_Silent_p.E968E	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1327					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGCTTCCTTCTCACTTTCAC	0.522																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(2902-2904)gaG>gaA		prune homolog 2 (Drosophila)							63.0	59.0	60.0					9																	79323209		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79323209C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.3981G>A	9.37:g.79323209C>T						PRUNE2_ENST00000376718.3_Silent_p.E1327E	p.E968E			Q8WUY3	PRUN2_HUMAN			8	4104	-			1327					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.2904G>A	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	C	3.329	-0.137023	0.06711	.	.	ENSG00000106772	ENST00000426088	T	0.54675	0.56	5.45	-1.64	0.08318	.	0.417097	0.20178	N	0.097581	T	0.42585	0.1209	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39396	-0.9616	7	0.72032	D	0.01	-11.5849	2.5824	0.04822	0.1152:0.1929:0.1984:0.4935	.	.	.	.	K	649	ENSP00000389706:E649K	ENSP00000389706:E649K	E	-	1	0	PRUNE2	78513029	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.352000	0.02619	0.008000	0.14787	0.650000	0.86243	GAA		0.522	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		33	42	0	0	0	1	0	33	42				
TYK2	7297	broad.mit.edu	37	19	10461534	10461534	+	Silent	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:10461534G>A	ENST00000525621.1	-	25	4021	c.3540C>T	c.(3538-3540)gcC>gcT	p.A1180A	TYK2_ENST00000524462.1_Silent_p.A995A|TYK2_ENST00000264818.6_Silent_p.A1180A|TYK2_ENST00000529422.1_5'UTR	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1180					cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			ACACTGAAGGGGCCTGGCCTT	0.592																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3538-3540)gcC>gcT		tyrosine kinase 2							87.0	77.0	81.0					19																	10461534		2203	4300	6503	SO:0001819	synonymous_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10461534G>A		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3540C>T	19.37:g.10461534G>A						TYK2_ENST00000264818.6_Silent_p.A1180A|TYK2_ENST00000524462.1_Silent_p.A995A|TYK2_ENST00000529422.1_5'UTR	p.A1180A	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		25	4021	-			1180					Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.3540C>T	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	G	8.694	0.908143	0.17833	.	.	ENSG00000105397	ENST00000525976	.	.	.	5.56	-4.91	0.03085	.	.	.	.	.	T	0.41604	0.1166	.	.	.	0.35422	D	0.793289	.	.	.	.	.	.	T	0.51849	-0.8653	4	.	.	.	-24.9145	6.4687	0.21995	0.0672:0.4145:0.3316:0.1867	.	.	.	.	L	57	.	.	P	-	2	0	TYK2	10322534	0.598000	0.26882	0.703000	0.30354	0.701000	0.40568	-0.687000	0.05156	-0.211000	0.10124	0.591000	0.81541	CCC		0.592	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			21	67	0	0	0	1	0	21	67				
KMT2A	4297	broad.mit.edu	37	11	118361956	118361956	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr11:118361956A>G	ENST00000389506.5	+	14	4742	c.4742A>G	c.(4741-4743)tAt>tGt	p.Y1581C	KMT2A_ENST00000534358.1_Missense_Mutation_p.Y1581C|KMT2A_ENST00000354520.4_Missense_Mutation_p.Y1543C			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1581					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GATGATGACTATGAGAGTAAG	0.403																																						ENST00000534358.1																			0											c.(4741-4743)tAt>tGt		lysine (K)-specific methyltransferase 2A							219.0	198.0	205.0					11																	118361956		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118361956A>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4742A>G	11.37:g.118361956A>G	ENSP00000374157:p.Tyr1581Cys					KMT2A_ENST00000354520.4_Missense_Mutation_p.Y1543C|KMT2A_ENST00000389506.5_Missense_Mutation_p.Y1581C	p.Y1581C	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					14	4765	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.4742A>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753585	0.49362	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	D;D;D;D	0.87412	-1.89;-1.89;-1.89;-2.25	5.52	5.52	0.82312	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.134947	0.50627	D	0.000102	D	0.87553	0.6206	L	0.41961	1.31	0.48830	D	0.999719	B;B	0.31769	0.339;0.265	B;B	0.43950	0.437;0.156	D	0.86231	0.1637	10	0.42905	T	0.14	.	15.6631	0.77203	1.0:0.0:0.0:0.0	.	1581;1581	E9PQG7;Q03164	.;MLL1_HUMAN	C	1581;1581;1543;491;293	ENSP00000436786:Y1581C;ENSP00000374157:Y1581C;ENSP00000346516:Y1543C;ENSP00000376612:Y293C	ENSP00000346516:Y1543C	Y	+	2	0	MLL	117867166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.195000	0.65131	2.088000	0.63022	0.533000	0.62120	TAT		0.403	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		50	55	0	0	0	1	0	50	55				
MGAT5	4249	broad.mit.edu	37	2	135095868	135095868	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr2:135095868G>T	ENST00000409645.1	+	7	936	c.684G>T	c.(682-684)atG>atT	p.M228I	MGAT5_ENST00000281923.2_Missense_Mutation_p.M228I			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	228					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TCTACAGTATGATGAAAAAGC	0.388																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(682-684)atG>atT		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							54.0	59.0	58.0					2																	135095868		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135095868G>T	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.684G>T	2.37:g.135095868G>T	ENSP00000386377:p.Met228Ile					MGAT5_ENST00000281923.2_Missense_Mutation_p.M228I	p.M228I			Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	7	936	+			228					D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.684G>T	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145379	0.37825	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.87	4.98	0.66077	.	0.243797	0.49916	N	0.000129	T	0.29256	0.0728	N	0.03324	-0.35	0.45806	D	0.998687	B	0.02656	0.0	B	0.01281	0.0	T	0.08229	-1.0732	9	0.34782	T	0.22	-18.7241	12.0365	0.53427	0.0:0.1312:0.7324:0.1365	.	228	Q09328	MGT5A_HUMAN	I	228	.	ENSP00000281923:M228I	M	+	3	0	MGAT5	134812338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.749000	0.47492	1.582000	0.49881	0.655000	0.94253	ATG		0.388	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		40	81	1	0	4.67007e-22	1	5.02758e-22	40	81				
KIAA0195	9772	broad.mit.edu	37	17	73487865	73487865	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:73487865C>T	ENST00000314256.7	+	14	1874	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S	KIAA0195_ENST00000579208.1_Missense_Mutation_p.P145S|KIAA0195_ENST00000375248.5_Missense_Mutation_p.P504S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	494						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGCGAGGCTCCCAAGCCCCC	0.627																																						ENST00000314256.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42						c.(1480-1482)Ccc>Tcc		KIAA0195							64.0	57.0	60.0					17																	73487865		2203	4300	6503	SO:0001583	missense	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73487865C>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1480C>T	17.37:g.73487865C>T	ENSP00000313885:p.Pro494Ser					KIAA0195_ENST00000375248.5_Missense_Mutation_p.P504S|KIAA0195_ENST00000579208.1_Missense_Mutation_p.P145S	p.P494S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		14	1874	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		494					O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	c.1480C>T	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	C	7.459	0.644353	0.14451	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.42131	0.99;0.98	5.69	3.68	0.42216	.	0.439272	0.26439	N	0.024369	T	0.29321	0.0730	L	0.36672	1.1	0.33462	D	0.585116	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.31166	-0.9953	10	0.19590	T	0.45	-23.0286	8.8422	0.35148	0.0:0.7674:0.0:0.2326	.	504;504;494	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	S	494;504	ENSP00000313885:P494S;ENSP00000364397:P504S	ENSP00000313885:P494S	P	+	1	0	KIAA0195	70999460	0.001000	0.12720	0.650000	0.29550	0.269000	0.26545	0.380000	0.20602	0.734000	0.32515	0.561000	0.74099	CCC		0.627	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		6	67	0	0	0	1	0	6	67				
NBPF12	149013	broad.mit.edu	37	1	146397451	146397451	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:146397451G>C	ENST00000442909.2	+	6	1104	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Missense_Mutation_p.E90Q			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	0	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				ovary(2)	2						GAAACAAGCTGAGGAGCTCAG	0.517																																						ENST00000442909.2																			0				ovary(2)	2						c.(268-270)Gag>Cag		neuroblastoma breakpoint family, member 12																																				SO:0001583	missense	149013							g.chr1:146397451G>C	BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.268G>C	1.37:g.146397451G>C	ENSP00000391116:p.Glu90Gln					NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Missense_Mutation_p.E90Q	p.E90Q							6	1104	+								O95877	Missense_Mutation	SNP	ENST00000442909.2	37	c.268G>C		.	.	.	.	.	.	.	.	.	.	N	11.26	1.586177	0.28268	.	.	ENSG00000186275	ENST00000446760;ENST00000442909	T;T	0.03065	4.06;4.11	1.23	1.23	0.21249	.	.	.	.	.	T	0.04227	0.0117	M	0.80616	2.505	0.09310	N	0.999998	.	.	.	.	.	.	T	0.29458	-1.0011	7	0.72032	D	0.01	.	6.0095	0.19567	0.0:0.0:1.0:0.0	.	.	.	.	Q	90	ENSP00000396525:E90Q;ENSP00000391116:E90Q	ENSP00000391116:E90Q	E	+	1	0	NBPF12	144766712	0.001000	0.12720	0.002000	0.10522	0.040000	0.13550	0.041000	0.13927	1.017000	0.39495	0.369000	0.22263	GAG		0.517	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000102086.3	XM_003119146		29	368	0	0	0	1	0	29	368				
RSL1D1	26156	broad.mit.edu	37	16	11931942	11931942	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr16:11931942G>A	ENST00000571133.1	-	9	1247	c.1175C>T	c.(1174-1176)tCt>tTt	p.S392F	RSL1D1_ENST00000542106.1_Missense_Mutation_p.S172F	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	392					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						CTTTGCTGGAGACTTCTTTCC	0.438																																						ENST00000571133.1																			0				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						c.(1174-1176)tCt>tTt		ribosomal L1 domain containing 1							139.0	149.0	146.0					16																	11931942		2194	4298	6492	SO:0001583	missense	26156				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr16:11931942G>A	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.1175C>T	16.37:g.11931942G>A	ENSP00000460871:p.Ser392Phe					RSL1D1_ENST00000542106.1_Missense_Mutation_p.S172F	p.S392F	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN			9	1247	-			392					B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	37	c.1175C>T	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178352	0.38511	.	.	ENSG00000171490	ENST00000355674;ENST00000396503;ENST00000542106	T;T	0.53640	0.9;0.61	4.8	3.75	0.43078	.	0.926193	0.09110	N	0.847218	T	0.58409	0.2120	L	0.54323	1.7	0.32662	N	0.517913	D;D	0.67145	0.996;0.991	P;P	0.59703	0.862;0.862	T	0.58222	-0.7674	10	0.40728	T	0.16	-2.8043	10.2748	0.43504	0.0:0.2006:0.7994:0.0	.	392;392	Q32Q62;O76021	.;RL1D1_HUMAN	F	391;392;172	ENSP00000347897:S391F;ENSP00000442089:S172F	ENSP00000347897:S391F	S	-	2	0	RSL1D1	11839443	0.993000	0.37304	0.630000	0.29268	0.047000	0.14425	2.424000	0.44714	2.586000	0.87340	0.563000	0.77884	TCT		0.438	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659		5	404	0	0	0	1	0	5	404				
SNCB	6620	broad.mit.edu	37	5	176056546	176056546	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr5:176056546A>G	ENST00000310112.3	-	3	360	c.110T>C	c.(109-111)gTc>gCc	p.V37A	SNCB_ENST00000393693.2_Missense_Mutation_p.V37A|SNCB_ENST00000510387.1_Missense_Mutation_p.V37A|EIF4E1B_ENST00000318682.6_5'Flank|MIR4281_ENST00000580852.1_RNA|SNCB_ENST00000506696.1_Missense_Mutation_p.V37A	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	37	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).				dopamine metabolic process (GO:0042417)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)|phospholipase inhibitor activity (GO:0004859)			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACGTAGAGGACGCCCTCCTT	0.687																																						ENST00000310112.3																			0				breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(109-111)gTc>gCc		synuclein, beta							42.0	35.0	37.0					5																	176056546		2203	4300	6503	SO:0001583	missense	6620						calcium ion binding|phospholipase inhibitor activity	g.chr5:176056546A>G	AF053134	CCDS4406.1	5q35	2008-07-18			ENSG00000074317	ENSG00000074317			11140	protein-coding gene	gene with protein product		602569				7558013, 9806846	Standard	NM_003085		Approved		uc003meq.3	Q16143	OTTHUMG00000130661	ENST00000310112.3:c.110T>C	5.37:g.176056546A>G	ENSP00000308057:p.Val37Ala					SNCB_ENST00000393693.2_Missense_Mutation_p.V37A|SNCB_ENST00000510387.1_Missense_Mutation_p.V37A|SNCB_ENST00000506696.1_Missense_Mutation_p.V37A	p.V37A	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	360	-	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	37			4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).		Q6IAX7	Missense_Mutation	SNP	ENST00000310112.3	37	c.110T>C	CCDS4406.1	.	.	.	.	.	.	.	.	.	.	A	16.21	3.060040	0.55325	.	.	ENSG00000074317	ENST00000310112;ENST00000393693;ENST00000510387;ENST00000506696	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	3.37	3.37	0.38596	.	0.148276	0.44688	D	0.000434	D	0.91123	0.7205	M	0.66378	2.025	0.80722	D	1	D;B	0.76494	0.999;0.1	D;B	0.80764	0.994;0.038	D	0.90142	0.4214	10	0.41790	T	0.15	-5.4767	11.1976	0.48722	1.0:0.0:0.0:0.0	.	37;37	G4Y815;Q16143	.;SYUB_HUMAN	A	37	ENSP00000308057:V37A;ENSP00000377296:V37A;ENSP00000424073:V37A;ENSP00000422223:V37A	ENSP00000308057:V37A	V	-	2	0	SNCB	175989152	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	8.729000	0.91490	1.532000	0.49169	0.379000	0.24179	GTC		0.687	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253152.2	NM_001001502		12	24	0	0	0	1	0	12	24				
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs9424678|rs11370361|rs142440425		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											aaaccaaaaacaaaAAAAAAAG	0.416																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109312_145109313insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109322_145109322dupA										O75396	SC22B_HUMAN			0	512	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.416	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		2	4						2	4	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129546680	129546682	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:129546680_129546682delGCA	ENST00000393238.3	-	3	880_882	c.540_542delTGC	c.(538-543)gctgca>gca	p.180_181AA>A	TMCC1_ENST00000426664.2_In_Frame_Del_p.66_67AA>A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	180						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TGGTAGACATgcagcagcagcag	0.483																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(538-543)gca>gc		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129546680_129546682delGCA	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.540_542delTGC	3.37:g.129546689_129546691delGCA	ENSP00000376930:p.Ala181del					TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del	p.AA180del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	880_882	-			180					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.540_542delTGC	CCDS33855.1																																																																																				0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		7	164						7	164	---	---	---	---
SLC35G2	80723	broad.mit.edu	37	3	136574081	136574081	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr3:136574081delT	ENST00000446465.2	+	2	1407	c.779delT	c.(778-780)atgfs	p.M260fs	RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Frame_Shift_Del_p.M260fs	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		GGGTACACCATGACTGTGATG	0.428																																						ENST00000446465.2																			0											c.(778-780)agfs		solute carrier family 35, member G2							223.0	208.0	213.0					3																	136574081		2203	4300	6503	SO:0001589	frameshift_variant	80723					Golgi apparatus|integral to membrane		g.chr3:136574081delT	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.779delT	3.37:g.136574081delT	ENSP00000400839:p.Met260fs					RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Frame_Shift_Del_p.M260fs|RP11-85F14.5_ENST00000474250.1_RNA	p.M260fs	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN			2	1407	+			260						Frame_Shift_Del	DEL	ENST00000446465.2	37	c.779delT	CCDS3091.1																																																																																				0.428	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	NM_025246		227	473						227	473	---	---	---	---
MTHFD1L	25902	broad.mit.edu	37	6	151243429	151243430	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr6:151243429_151243430delCT	ENST00000367321.3	+	10	1347_1348	c.1073_1074delCT	c.(1072-1074)cctfs	p.P358fs		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	358	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CCTCTCTCCCCTGTGCCAAGGT	0.51																																						ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(1072-1074)cfs		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like																																				SO:0001589	frameshift_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151243429_151243430delCT	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1073_1074delCT	6.37:g.151243429_151243430delCT	ENSP00000356290:p.Pro358fs						p.P358fs	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	10	1347_1348	+		Ovarian(120;0.128)	358			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Frame_Shift_Del	DEL	ENST00000367321.3	37	c.1073_1074delCT	CCDS5228.1																																																																																				0.510	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		14	88						14	88	---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21178840	21178845	+	In_Frame_Del	DEL	CTTATC	CTTATC	-	rs71578975	byFrequency	TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr10:21178840_21178845delCTTATC	ENST00000377122.4	-	3	583_588	c.187_192delGATAAG	c.(187-192)gataagdel	p.DK63del	NEBL_ENST00000377119.1_In_Frame_Del_p.DK63del|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	63					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAAATGTACACTTATCCTTGGACTTT	0.32																																						ENST00000377122.4																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(187-192)del		nebulette																																				SO:0001651	inframe_deletion	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21178840_21178845delCTTATC	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.187_192delGATAAG	10.37:g.21178840_21178845delCTTATC	ENSP00000366326:p.Asp63_Lys64del					NEBL_ENST00000377159.4_Intron|NEBL_ENST00000377119.1_In_Frame_Del_p.DK63del|NEBL_ENST00000417816.2_Intron	p.DK63del	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			3	583_588	-			63					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	In_Frame_Del	DEL	ENST00000377122.4	37	c.187_192delGATAAG	CCDS7134.1																																																																																				0.320	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		24	64						24	64	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49434900	49434900	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:49434900delG	ENST00000301067.7	-	31	6652	c.6653delC	c.(6652-6654)cctfs	p.P2218fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2218	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCCAGCCCCAGGACGAGATGA	0.697																																						ENST00000301067.7																			0											c.(6652-6654)ctfs		lysine (K)-specific methyltransferase 2D							23.0	26.0	25.0					12																	49434900		1878	4101	5979	SO:0001589	frameshift_variant	8085							g.chr12:49434900delG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6653delC	12.37:g.49434900delG	ENSP00000301067:p.Pro2218fs						p.P2218fs	NM_003482.3	NP_003473.3					31	6652	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.6653delC	CCDS44873.1																																																																																				0.697	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			10	39						10	39	---	---	---	---
DDIT3	1649	broad.mit.edu	37	12	57911229	57911229	+	Intron	DEL	A	A	-			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr12:57911229delA	ENST00000346473.3	-	3	148				DDIT3_ENST00000547303.1_Intron|MIR616_ENST00000385293.1_RNA|DDIT3_ENST00000551116.1_Frame_Shift_Del_p.Y10fs|DDIT3_ENST00000552740.1_Frame_Shift_Del_p.Y10fs	NM_001195057.1|NM_004083.5	NP_001181986.1|NP_004074.2	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|blood vessel maturation (GO:0001955)|cell cycle arrest (GO:0007050)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of determination of dorsal identity (GO:2000016)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|regulation of transcription, DNA-templated (GO:0006355)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to starvation (GO:0042594)|response to unfolded protein (GO:0006986)|Wnt signaling pathway (GO:0016055)	late endosome (GO:0005770)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						CATCTGCAGGATAATGGGGAG	0.507			T	FUS	liposarcoma																																GBM(112;1383 1547 7626 23045 28770)	ENST00000551116.1				Dom	yes		12	12q13.1-q13.2	1649	T	DNA-damage-inducible transcript 3			M	FUS		liposarcoma	EWSR1/DDIT3(45)|FUS/DDIT3(631)	0				central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						c.(28-30)tafs		DNA-damage-inducible transcript 3							39.0	37.0	37.0					12																	57911229		2203	4300	6503	SO:0001627	intron_variant	1649				cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr12:57911229delA	BC003637	CCDS8943.1, CCDS55838.1	12q13.1-q13.2	2008-02-05				ENSG00000175197			2726	protein-coding gene	gene with protein product	"""C/EBP zeta"""	126337				1990262	Standard	NM_001195053		Approved	CHOP10, GADD153, CHOP	uc021qzk.1	P35638		ENST00000346473.3:c.32-8T>-	12.37:g.57911229delA						DDIT3_ENST00000346473.3_Intron|DDIT3_ENST00000552740.1_Frame_Shift_Del_p.Y10fs|DDIT3_ENST00000547303.1_Intron	p.Y10fs	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN			3	297	-			0	FGTLS -> SDTV (in Ref. 1; AAB22646).				F8VS99	Frame_Shift_Del	DEL	ENST00000346473.3	37	c.30delT	CCDS8943.1																																																																																				0.507	DDIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407137.1	NM_004083		15	46						15	46	---	---	---	---
PPM1D	8493	broad.mit.edu	37	17	58740401	58740402	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr17:58740401_58740402insT	ENST00000305921.3	+	6	1538_1539	c.1306_1307insT	c.(1306-1308)atafs	p.I436fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	436					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TAAGGACCATATACCTGCCCTG	0.406											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1306-1308)accfs		protein phosphatase, Mg2+/Mn2+ dependent, 1D																																				SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740401_58740402insT	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1307dupT	17.37:g.58740402_58740402dupT	ENSP00000306682:p.Ile436fs		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033		p.T436fs	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1538_1539	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		436					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Ins	INS	ENST00000305921.3	37	c.1306_1307insT	CCDS11625.1																																																																																				0.406	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		132	117						132	117	---	---	---	---
NPIPB1P	729602	broad.mit.edu	37	18	11625378	11625379	+	RNA	INS	-	-	A	rs141097667	byFrequency	TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr18:11625378_11625379insA	ENST00000547442.1	-	0	621									nuclear pore complex interacting protein family, member B1, pseudogene																		CTCTTCCCCCGAAAAATGACAA	0.401													aaaaaa|AAAAA|AAAAAA|deletion	3507	0.70028	0.3805	0.8501	5008	,	,		12701	0.8056		0.7843	False		,,,				2504	0.8313					ENST00000547442.1																			0																																																			729602							g.chr18:11625378_11625379insA			18p11.21	2013-06-11			ENSG00000257513	ENSG00000257513			37452	pseudogene	pseudogene							Standard	NG_023368		Approved				OTTHUMG00000170512		18.37:g.11625383_11625383dupA														0	621	-									RNA	INS	ENST00000547442.1	37																																																																																						0.401	NPIPB1P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000409451.1	NG_023368		3	6						3	6	---	---	---	---
ZNF724P	440519	broad.mit.edu	37	19	23405909	23405909	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:23405909delT	ENST00000418100.1	-	4	1255	c.1138delA	c.(1138-1140)actfs	p.T380fs				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TGAGTAAGAGTTGAGGACACG	0.388																																						ENST00000418100.1																			0				endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						c.(1138-1140)ctfs																																						SO:0001589	frameshift_variant	440519							g.chr19:23405909delT			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.1138delA	19.37:g.23405909delT	ENSP00000413411:p.Thr380fs						p.T380fs							4	1255	-									Frame_Shift_Del	DEL	ENST00000418100.1	37	c.1138delA																																																																																					0.388	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000465743.1			9	47						9	47	---	---	---	---
ZNF526	116115	broad.mit.edu	37	19	42728938	42728938	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr19:42728938delA	ENST00000301215.3	+	3	608	c.383delA	c.(382-384)gatfs	p.D128fs		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	128					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GCCCACCAGGATGCCCACCTC	0.657																																						ENST00000301215.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22						c.(382-384)gtfs		zinc finger protein 526							73.0	75.0	74.0					19																	42728938		2203	4300	6503	SO:0001589	frameshift_variant	116115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42728938delA	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.383delA	19.37:g.42728938delA	ENSP00000301215:p.Asp128fs						p.D128fs	NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN			3	608	+		Prostate(69;0.0704)	128					B3KV29|Q69YI2|Q96E24	Frame_Shift_Del	DEL	ENST00000301215.3	37	c.383delA	CCDS12598.1																																																																																				0.657	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463681.2	XM_057401		38	106						38	106	---	---	---	---
SEPT5	5413	broad.mit.edu	37	22	19706319	19706319	+	Intron	DEL	C	C	-			TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chr22:19706319delC	ENST00000455784.2	+	3	179				SEPT5_ENST00000383045.3_Frame_Shift_Del_p.T20fs|SEPT5_ENST00000406395.1_Intron|SEPT5_ENST00000490204.1_3'UTR|SEPT5_ENST00000438754.2_Frame_Shift_Del_p.T20fs	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5						cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TCGCCGCGGACCCAGGCCCAG	0.761																																						ENST00000438754.2																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(58-60)acfs		septin 5							3.0	3.0	3.0					22																	19706319		715	1685	2400	SO:0001627	intron_variant	5413				cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr22:19706319delC	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.55-806C>-	22.37:g.19706319delC						SEPT5_ENST00000455784.2_Intron|SEPT5_ENST00000383045.3_Frame_Shift_Del_p.T20fs|SEPT5_ENST00000490204.1_3'UTR|SEPT5_ENST00000406395.1_Intron	p.T20fs	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN			1	339	+	Colorectal(54;0.0993)		0					O15251|Q96MY5	Frame_Shift_Del	DEL	ENST00000455784.2	37	c.59delC	CCDS13764.1																																																																																				0.761	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317937.1	NM_002688		2	4						2	4	---	---	---	---
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-	rs373540942		TCGA-P3-A6T4-01A-11D-A34J-08	TCGA-P3-A6T4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543e3ea1-ec9f-49c2-a6e6-f8ac0b1c9288	7972338c-6b3b-4f41-9683-5e2ecb636522	g.chrY:10037863delC	ENST00000515896.1	+	0	100									RNA, 5.8S ribosomal pseudogene 6																		ATCGACACTTCGAACGCACTT	0.552																																						ENST00000515896.1																			0																																																			100873336							g.chrY:10037863delC			Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037863delC														0	100	+									RNA	DEL	ENST00000515896.1	37																																																																																						0.552	RNA5-8SP6-201	KNOWN	basic	rRNA	rRNA				7	31						7	31	---	---	---	---
