#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZC3H12A	80149	broad.mit.edu	37	1	37949128	37949128	+	Silent	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:37949128G>C	ENST00000373087.6	+	6	1832	c.1716G>C	c.(1714-1716)gtG>gtC	p.V572V		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGAGGCTGTGATGGGGCGCT	0.657																																						uc001cbb.3		NA																	0				ovary(2)	2						c.(1714-1716)GTG>GTC		zinc finger CCCH-type containing 12A							35.0	38.0	37.0					1																	37949128		2203	4300	6503	SO:0001819	synonymous_variant	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37949128G>C		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1716G>C	1.37:g.37949128G>C						ZC3H12A_uc001cbc.1_Silent_p.V367V	p.V572V	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN			6	1866	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	572						Silent	SNP	ENST00000373087.6	37	c.1716G>C	CCDS417.1																																																																																				0.657	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		8	46	0	0	0	0	8	46				
CYP4A22	284541	broad.mit.edu	37	1	47610609	47610609	+	Missense_Mutation	SNP	G	G	A	rs141856283		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:47610609G>A	ENST00000371891.3	+	9	1220	c.1189G>A	c.(1189-1191)Gtc>Atc	p.V397I	CYP4A22_ENST00000294337.3_Missense_Mutation_p.V397I|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.V299I|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	397						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGCACTCCCGTCACCTTCCC	0.582																																					Pancreas(88;1240 1470 2099 14214 37557)	uc001cqv.1		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(1189-1191)GTC>ATC		cytochrome P450, family 4, subfamily A,		G	ILE/VAL	0,4406		0,0,2203	114.0	96.0	102.0		1189	-1.8	0.9	1	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYP4A22	NM_001010969.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	397/520	47610609	1,13005	2203	4300	6503	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47610609G>A		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1189G>A	1.37:g.47610609G>A	ENSP00000360958:p.Val397Ile					CYP4A22_uc009vyo.2_Missense_Mutation_p.V397I|CYP4A22_uc009vyp.2_Missense_Mutation_p.V299I	p.V397I	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN			9	1240	+			397					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.1189G>A	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	g	0.839	-0.742698	0.03088	0.0	1.16E-4	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.68765	-0.35;-0.35;-0.35	1.51	-1.82	0.07857	.	0.530988	0.22090	N	0.064765	T	0.30448	0.0765	N	0.04724	-0.175	0.30924	N	0.727679	B;B	0.24768	0.111;0.01	B;B	0.20184	0.028;0.012	T	0.40346	-0.9568	10	0.02654	T	1	.	4.6192	0.12442	0.474:0.2625:0.2635:0.0	.	299;397	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	I	299;397;397	ENSP00000360957:V299I;ENSP00000360958:V397I;ENSP00000294337:V397I	ENSP00000294337:V397I	V	+	1	0	CYP4A22	47383196	0.001000	0.12720	0.942000	0.38095	0.527000	0.34593	-0.528000	0.06193	-0.079000	0.12707	0.194000	0.17425	GTC		0.582	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		7	58	0	0	0	0	7	58				
CACHD1	57685	broad.mit.edu	37	1	65099811	65099811	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:65099811G>A	ENST00000371073.2	+	7	874	c.874G>A	c.(874-876)Gag>Aag	p.E292K	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.E241K			Q5VU97	CAHD1_HUMAN	cache domain containing 1	292	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGCCACCAGTGAGACAAAAAG	0.473																																						uc001dbo.1		NA																	0				ovary(2)	2						c.(721-723)GAG>AAG		cache domain containing 1							87.0	77.0	80.0					1																	65099811		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65099811G>A	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.874G>A	1.37:g.65099811G>A	ENSP00000360113:p.Glu292Lys					CACHD1_uc001dbp.1_5'UTR|CACHD1_uc001dbq.1_5'UTR	p.E241K	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN			7	826	+			292			Extracellular (Potential).|VWFA.		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.721G>A		.	.	.	.	.	.	.	.	.	.	G	23.4	4.414962	0.83449	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.21031	2.03;2.03	5.77	5.77	0.91146	von Willebrand factor, type A (2);	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	N	0.19112	0.55	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.03706	-1.1011	10	0.22109	T	0.4	-28.2251	19.982	0.97329	0.0:0.0:1.0:0.0	.	292	Q5VU97	CAHD1_HUMAN	K	292;241	ENSP00000360113:E292K;ENSP00000290039:E241K	ENSP00000290039:E241K	E	+	1	0	CACHD1	64872399	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.434000	0.97515	2.737000	0.93849	0.561000	0.74099	GAG		0.473	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		7	70	0	0	0	0	7	70				
PDE4B	5142	broad.mit.edu	37	1	66833700	66833700	+	Silent	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:66833700T>C	ENST00000329654.4	+	15	1801	c.1614T>C	c.(1612-1614)gtT>gtC	p.V538V	PDE4B_ENST00000371049.3_Silent_p.V538V|PDE4B_ENST00000423207.2_Silent_p.V523V|PDE4B_ENST00000371045.5_Silent_p.V366V|PDE4B_ENST00000480109.2_Silent_p.V305V	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	538					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	CGAAGAAAGTTACAAGTTCAG	0.388																																						uc001dcn.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1612-1614)GTT>GTC		phosphodiesterase 4B isoform 1	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						91.0	90.0	90.0					1																	66833700		2203	4300	6503	SO:0001819	synonymous_variant	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66833700T>C	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1614T>C	1.37:g.66833700T>C						PDE4B_uc009war.2_Silent_p.V446V|PDE4B_uc001dco.2_Silent_p.V538V|PDE4B_uc001dcp.2_Silent_p.V523V|PDE4B_uc001dcq.2_Silent_p.V366V|PDE4B_uc009was.2_Silent_p.V305V	p.V538V	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN			15	1805	+			538					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Silent	SNP	ENST00000329654.4	37	c.1614T>C	CCDS632.1																																																																																				0.388	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		12	90	0	0	0	0	12	90				
COL11A1	1301	broad.mit.edu	37	1	103355090	103355090	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:103355090C>G	ENST00000370096.3	-	59	4697	c.4385G>C	c.(4384-4386)gGt>gCt	p.G1462A	COL11A1_ENST00000353414.4_Missense_Mutation_p.G1423A|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1346A|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1474A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1462	Collagen-like 7.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCTGGAGGACCAATCAGGCC	0.388																																						uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(4384-4386)GGT>GCT		alpha 1 type XI collagen isoform A							67.0	63.0	64.0					1																	103355090		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103355090C>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4385G>C	1.37:g.103355090C>G	ENSP00000359114:p.Gly1462Ala					COL11A1_uc001duk.2_Missense_Mutation_p.G658A|COL11A1_uc001dum.2_Missense_Mutation_p.G1474A|COL11A1_uc001dun.2_Missense_Mutation_p.G1423A|COL11A1_uc009weh.2_Missense_Mutation_p.G1346A	p.G1462A	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	59	4703	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1462			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4385G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106108	0.77096	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.99802	0.9915	H	0.95079	3.62	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.995;0.998;0.998;0.999;0.998	D	0.97323	0.9945	10	0.59425	D	0.04	.	19.3074	0.94169	0.0:1.0:0.0:0.0	.	1346;1423;1474;1462;682	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	A	1462;1474;1423;682;1346	ENSP00000359114:G1462A;ENSP00000351163:G1474A;ENSP00000302551:G1423A;ENSP00000426533:G1346A	ENSP00000302551:G1423A	G	-	2	0	COL11A1	103127678	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.560000	0.86352	0.563000	0.77884	GGT		0.388	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		14	156	0	0	0	0	14	156				
KCNA3	3738	broad.mit.edu	37	1	111216803	111216803	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:111216803G>A	ENST00000369769.2	-	1	852	c.629C>T	c.(628-630)cCc>cTc	p.P210L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	210					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GCGGGGCAAGGGCCGCTCCTC	0.677																																						uc001dzv.1		NA																	0				ovary(4)|pancreas(1)	5						c.(628-630)CCC>CTC		potassium voltage-gated channel, shaker-related							33.0	39.0	37.0					1																	111216803		2202	4300	6502	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216803G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.629C>T	1.37:g.111216803G>A	ENSP00000358784:p.Pro210Leu						p.P210L	NM_002232	NP_002223	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	853	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	210					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.629C>T	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351607	0.41700	.	.	ENSG00000177272	ENST00000369769	D	0.97114	-4.25	4.8	4.8	0.61643	.	0.276160	0.34750	U	0.003704	D	0.93471	0.7917	L	0.49350	1.555	0.80722	D	1	B	0.18610	0.029	B	0.23574	0.047	D	0.91176	0.4972	10	0.29301	T	0.29	.	17.82	0.88648	0.0:0.0:1.0:0.0	.	210	P22001	KCNA3_HUMAN	L	210	ENSP00000358784:P210L	ENSP00000358784:P210L	P	-	2	0	KCNA3	111018326	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.840000	0.86819	2.209000	0.71365	0.561000	0.74099	CCC		0.677	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		4	55	0	0	0	0	4	55				
PTGFRN	5738	broad.mit.edu	37	1	117487601	117487601	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:117487601C>T	ENST00000393203.2	+	3	866	c.719C>T	c.(718-720)gCc>gTc	p.A240V		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	240	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)		GCTCTGTCTGCCGACCAGGGC	0.657																																						uc001egv.1		NA																	0				liver(1)	1						c.(718-720)GCC>GTC		prostaglandin F2 receptor negative regulator							36.0	36.0	36.0					1																	117487601		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117487601C>T	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.719C>T	1.37:g.117487601C>T	ENSP00000376899:p.Ala240Val						p.A240V	NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	3	856	+	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)	240			Ig-like C2-type 2.|Extracellular (Potential).		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.719C>T	CCDS890.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069813	0.36566	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.02837	4.14	5.23	1.89	0.25635	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.376195	0.30210	N	0.010157	T	0.00496	0.0016	N	0.04508	-0.205	0.09310	N	1	B	0.20261	0.043	B	0.16722	0.016	T	0.50048	-0.8873	10	0.56958	D	0.05	-16.8927	4.2667	0.10766	0.1623:0.5839:0.1579:0.0959	.	240	Q9P2B2	FPRP_HUMAN	V	240;99	ENSP00000376899:A240V	ENSP00000376899:A240V	A	+	2	0	PTGFRN	117289124	0.003000	0.15002	0.019000	0.16419	0.993000	0.82548	0.547000	0.23299	1.190000	0.43042	0.561000	0.74099	GCC		0.657	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		3	55	0	0	0	0	3	55				
NBPF7	343505	broad.mit.edu	37	1	120378772	120378772	+	IGR	SNP	G	G	A	rs76727176	byFrequency	TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:120378772G>A								REG4 (24489 upstream) : ADAM30 (57383 downstream)																							ACAAGAAGTCGTAACCCTTTC	0.488													a|||	3	0.000599042	0.0	0.0	5008	,	,		21609	0.001		0.002	False		,,,				2504	0.0					uc010oxk.1		NA																	0				ovary(1)|skin(1)	2						c.(973-975)ACG>ATG		hypothetical protein LOC343505		A	MET/THR	0,3960		0,0,1980	93.0	94.0	94.0		974	-1.2	0.0	1	dbSNP_131	94	9,8345		0,9,4168	yes	missense	NBPF7	NM_001047980.1	81	0,9,6148	AA,AG,GG		0.1077,0.0,0.0731	possibly-damaging	325/422	120378772	9,12305	1980	4177	6157	SO:0001628	intergenic_variant	343505					cytoplasm		g.chr1:120378772G>A																													1.37:g.120378772G>A							p.T325M	NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)	7	1595	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)	325			NBPF 2.			Missense_Mutation	SNP		37	c.974C>T																																																																																				0	0.488									4	85	0	0	0	0	4	85				
PDE4DIP	9659	broad.mit.edu	37	1	144952292	144952292	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:144952292T>C	ENST00000369354.3	-	4	616	c.427A>G	c.(427-429)Aaa>Gaa	p.K143E	PDE4DIP_ENST00000369347.4_Missense_Mutation_p.K143E|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.K143E|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.K143E|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K280E|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K143E|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K209E|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.K280E|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.K280E			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	143			K -> E (in dbSNP:rs1747958).		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)		CCCTTCAGTTTCTCTGAGAGC	0.532			T	PDGFRB	MPD																																	uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(427-429)AAA>GAA		phosphodiesterase 4D interacting protein isoform							31.0	33.0	32.0					1																	144952292		2199	4276	6475	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144952292T>C	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.427A>G	1.37:g.144952292T>C	ENSP00000358360:p.Lys143Glu					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.K209E|PDE4DIP_uc001emc.1_Missense_Mutation_p.K143E|PDE4DIP_uc001emd.1_Missense_Mutation_p.K143E|PDE4DIP_uc001emg.1_Missense_Mutation_p.K143E|PDE4DIP_uc001emh.2_Missense_Mutation_p.K280E	p.K143E	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	4	718	-			143					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.427A>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.787754	0.31593	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078;ENST00000534536;ENST00000369347;ENST00000369348;ENST00000533259	T;T;T;T;T;T;T;T;T;T;T	0.42131	4.68;4.78;4.78;4.79;4.79;3.78;3.79;2.01;2.01;2.85;0.98	4.78	4.78	0.61160	.	.	.	.	.	T	0.24198	0.0586	L	0.40543	1.245	0.37832	D	0.928748	B;B;B	0.34181	0.006;0.43;0.44	B;B;B	0.36766	0.014;0.232;0.05	T	0.22800	-1.0206	9	0.87932	D	0	.	12.3006	0.54872	0.0:0.0:0.0:1.0	.	143;209;143	Q5VU43-7;Q5VU43-3;Q5VU43	.;.;MYOME_HUMAN	E	209;143;143;280;280;143;143;209;146;143;280;66	ENSP00000327209:K209E;ENSP00000358360:K143E;ENSP00000358363:K143E;ENSP00000435654:K280E;ENSP00000358366:K280E;ENSP00000358357:K143E;ENSP00000358355:K143E;ENSP00000435920:K146E;ENSP00000358353:K143E;ENSP00000358354:K280E;ENSP00000437202:K66E	ENSP00000327209:K209E	K	-	1	0	PDE4DIP	143663649	1.000000	0.71417	0.974000	0.42286	0.926000	0.56050	4.301000	0.59086	2.007000	0.58848	0.459000	0.35465	AAA		0.532	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		3	122	0	0	0	0	3	122				
NES	10763	broad.mit.edu	37	1	156640663	156640663	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:156640663C>A	ENST00000368223.3	-	4	3449	c.3317G>T	c.(3316-3318)gGa>gTa	p.G1106V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1106	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCCAGCCCTCCCACCCCCTG	0.657																																						uc001fpq.2		NA																	0				ovary(6)	6						c.(3316-3318)GGA>GTA		nestin							21.0	25.0	24.0					1																	156640663		2197	4295	6492	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156640663C>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3317G>T	1.37:g.156640663C>A	ENSP00000357206:p.Gly1106Val						p.G1106V	NM_006617	NP_006608	P48681	NEST_HUMAN			4	3450	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1106			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.3317G>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	5.600	0.295411	0.10622	.	.	ENSG00000132688	ENST00000368223	D	0.84730	-1.89	4.44	-3.54	0.04653	.	1.645600	0.04435	N	0.369978	T	0.49218	0.1544	N	0.11255	0.115	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43507	-0.9387	10	0.33940	T	0.23	.	7.4759	0.27376	0.3056:0.5077:0.1867:0.0	.	1106	P48681	NEST_HUMAN	V	1106	ENSP00000357206:G1106V	ENSP00000357206:G1106V	G	-	2	0	NES	154907287	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.556000	0.02168	-0.563000	0.06078	-1.121000	0.02013	GGA		0.657	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		12	62	1	0	1.58e-08	1.85e-08	12	62				
ACKR1	2532	broad.mit.edu	37	1	159176142	159176142	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:159176142G>A	ENST00000368122.2	+	2	1592	c.913G>A	c.(913-915)Gcc>Acc	p.A305T	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Missense_Mutation_p.A307T|DARC_ENST00000537147.1_Missense_Mutation_p.A305T	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		305					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CCTGCTCCTCGCCCTATTCTG	0.592																																						uc001fto.2		NA																	0				ovary(1)|lung(1)	2						c.(913-915)GCC>ACC		Duffy blood group antigen isoform b							182.0	197.0	192.0					1																	159176142		2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159176142G>A																												ENST00000368122.2:c.913G>A	1.37:g.159176142G>A	ENSP00000357104:p.Ala305Thr					DARC_uc001ftp.3_Missense_Mutation_p.A307T	p.A305T	NM_002036	NP_002027	Q16570	DUFFY_HUMAN			2	1153	+	all_hematologic(112;0.0429)		305			Helical; Name=7; (Potential).		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.913G>A	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562777	0.65538	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000368121	T;T;T	0.38240	1.15;1.15;1.15	5.4	5.4	0.78164	.	0.000000	0.31976	U	0.006779	T	0.19127	0.0459	L	0.47190	1.495	0.38878	D	0.956846	P;P	0.37352	0.591;0.591	B;B	0.28385	0.089;0.089	T	0.11348	-1.0591	10	0.72032	D	0.01	-13.1798	15.0408	0.71788	0.0:0.0:1.0:0.0	.	307;305	Q5Y7A1;Q16570	.;DUFFY_HUMAN	T	305;305;305;307	ENSP00000357104:A305T;ENSP00000441985:A305T;ENSP00000357103:A307T	ENSP00000352341:A305T	A	+	1	0	DARC	157442766	1.000000	0.71417	0.997000	0.53966	0.738000	0.42128	4.289000	0.59013	2.688000	0.91661	0.655000	0.94253	GCC		0.592	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			97	539	0	0	0	0	97	539				
TOR3A	64222	broad.mit.edu	37	1	179064256	179064256	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:179064256T>C	ENST00000367627.3	+	6	1849	c.1097T>C	c.(1096-1098)aTa>aCa	p.I366T	TOR3A_ENST00000352445.6_Intron	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	366					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						CTGGATGAAATAGCCCAGATG	0.507																																						uc001gmd.2		NA																	0				pancreas(1)	1						c.(1096-1098)ATA>ACA		torsin family 3, member A precursor							176.0	170.0	172.0					1																	179064256		2203	4300	6503	SO:0001583	missense	64222				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding	g.chr1:179064256T>C	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.1097T>C	1.37:g.179064256T>C	ENSP00000356599:p.Ile366Thr					TOR3A_uc010pnd.1_Missense_Mutation_p.I150T	p.I366T	NM_022371	NP_071766	Q9H497	TOR3A_HUMAN			6	1249	+			366					B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	c.1097T>C	CCDS1329.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.234695	0.39498	.	.	ENSG00000186283	ENST00000367627	T	0.36157	1.27	5.91	5.91	0.95273	.	0.427454	0.26680	N	0.023047	T	0.41419	0.1158	M	0.77103	2.36	0.80722	D	1	P	0.38922	0.651	B	0.33521	0.165	T	0.47598	-0.9105	10	0.62326	D	0.03	-6.0655	15.5295	0.75942	0.0:0.0:0.0:1.0	.	366	Q9H497	TOR3A_HUMAN	T	366	ENSP00000356599:I366T	ENSP00000356599:I366T	I	+	2	0	TOR3A	177330879	1.000000	0.71417	0.036000	0.18154	0.113000	0.19764	7.698000	0.84413	2.254000	0.74563	0.533000	0.62120	ATA		0.507	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		27	311	0	0	0	0	27	311				
KIF14	9928	broad.mit.edu	37	1	200529861	200529861	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:200529861C>A	ENST00000367350.4	-	26	4657	c.4219G>T	c.(4219-4221)Gcc>Tcc	p.A1407S		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1407	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TGGACACTGGCAGCTTTATTG	0.383																																						uc010ppk.1		NA																	0				breast(3)|ovary(2)|skin(2)	7						c.(4219-4221)GCC>TCC		kinesin family member 14							180.0	170.0	173.0					1																	200529861		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200529861C>A	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4219G>T	1.37:g.200529861C>A	ENSP00000356319:p.Ala1407Ser					KIF14_uc010ppj.1_Missense_Mutation_p.A916S	p.A1407S	NM_014875	NP_055690	Q15058	KIF14_HUMAN			26	4658	-			1407			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.4219G>T	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252016	0.39797	.	.	ENSG00000118193	ENST00000367350	T	0.72394	-0.65	5.42	0.0372	0.14195	.	1.089930	0.06910	N	0.807524	T	0.43545	0.1252	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21415	-1.0246	10	0.10111	T	0.7	.	3.8013	0.08760	0.2715:0.3294:0.0:0.3991	.	1407	Q15058	KIF14_HUMAN	S	1407	ENSP00000356319:A1407S	ENSP00000356319:A1407S	A	-	1	0	KIF14	198796484	0.000000	0.05858	0.000000	0.03702	0.809000	0.45718	-0.308000	0.08156	-0.163000	0.10946	0.536000	0.68110	GCC		0.383	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		23	188	1	0	3.84e-06	4.37e-06	23	188				
CAMK1G	57172	broad.mit.edu	37	1	209786185	209786185	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:209786185C>T	ENST00000009105.1	+	12	1641	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	CAMK1G_ENST00000361322.2_Missense_Mutation_p.R466W			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	466						calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTCCCACTGCCGGGCAGGGCA	0.502																																					Ovarian(163;530 1939 9680 28669 48710)	uc001hhd.2		NA																	0				breast(1)	1						c.(1396-1398)CGG>TGG		calcium/calmodulin-dependent protein kinase IG							85.0	86.0	86.0					1																	209786185		2203	4300	6503	SO:0001583	missense	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209786185C>T		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.1396C>T	1.37:g.209786185C>T	ENSP00000009105:p.Arg466Trp					CAMK1G_uc001hhe.2_Missense_Mutation_p.R466W	p.R466W	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	12	1498	+			466					Q86UH5|Q9Y3J7	Missense_Mutation	SNP	ENST00000009105.1	37	c.1396C>T	CCDS1486.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962002	0.74016	.	.	ENSG00000008118	ENST00000009105;ENST00000361322	T;T	0.69561	-0.41;-0.41	5.29	5.29	0.74685	.	0.000000	0.52532	D	0.000077	T	0.57007	0.2024	N	0.19112	0.55	0.36662	D	0.878019	D	0.61080	0.989	P	0.46629	0.522	T	0.68432	-0.5410	10	0.66056	D	0.02	.	13.6159	0.62108	0.0:0.7157:0.2843:0.0	.	466	Q96NX5	KCC1G_HUMAN	W	466	ENSP00000009105:R466W;ENSP00000354861:R466W	ENSP00000009105:R466W	R	+	1	2	CAMK1G	207852808	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.861000	0.56002	2.478000	0.83669	0.561000	0.74099	CGG		0.502	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439		8	121	0	0	0	0	8	121				
AHCTF1	25909	broad.mit.edu	37	1	247059207	247059207	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:247059207T>C	ENST00000391829.2	-	13	1767	c.1644A>G	c.(1642-1644)atA>atG	p.I548M	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.I557M|AHCTF1_ENST00000366508.1_Missense_Mutation_p.I583M			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	548	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTGCTGACAATATAGCTTCTA	0.368																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1		NA																	0				ovary(5)|skin(2)	7						c.(1642-1644)ATA>ATG		transcription factor ELYS							115.0	115.0	115.0					1																	247059207		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247059207T>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.1644A>G	1.37:g.247059207T>C	ENSP00000375705:p.Ile548Met					AHCTF1_uc001ibv.1_Missense_Mutation_p.I557M|AHCTF1_uc009xgs.1_Translation_Start_Site	p.I548M	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		12	1651	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	548			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.1644A>G		.	.	.	.	.	.	.	.	.	.	T	14.42	2.530430	0.45073	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.39229	1.09;1.09;1.09	5.64	3.32	0.38043	.	0.160629	0.53938	D	0.000047	T	0.26484	0.0647	L	0.27053	0.805	0.42411	D	0.992604	P;P	0.37207	0.587;0.512	B;B	0.36464	0.225;0.15	T	0.07578	-1.0765	10	0.59425	D	0.04	-15.008	5.1564	0.15036	0.1496:0.1585:0.0:0.6919	.	583;548	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	M	583;557;548	ENSP00000355464:I583M;ENSP00000355465:I557M;ENSP00000375705:I548M	ENSP00000355465:I557M	I	-	3	3	AHCTF1	245125830	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.985000	0.29578	0.928000	0.37168	0.528000	0.53228	ATA		0.368	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		17	200	0	0	0	0	17	200				
OR2T33	391195	broad.mit.edu	37	1	248436962	248436962	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:248436962C>T	ENST00000318021.2	-	1	176	c.155G>A	c.(154-156)cGg>cAg	p.R52Q		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CGTGTGGAGCCGGTGGTCCCA	0.527																																						uc010pzi.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(154-156)CGG>CAG		olfactory receptor, family 2, subfamily T,							61.0	59.0	59.0					1																	248436962		2195	4286	6481	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436962C>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.155G>A	1.37:g.248436962C>T	ENSP00000324687:p.Arg52Gln						p.R52Q	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	155	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		52			Cytoplasmic (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.155G>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	0.153	-1.088947	0.01873	.	.	ENSG00000177212	ENST00000318021	T	0.00374	7.72	2.7	-2.82	0.05787	GPCR, rhodopsin-like superfamily (1);	0.549739	0.13424	U	0.388883	T	0.00178	0.0005	N	0.25094	0.71	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.15206	-1.0445	10	0.21014	T	0.42	.	8.1406	0.31080	0.0:0.5265:0.0:0.4735	.	52	Q8NG76	O2T33_HUMAN	Q	52	ENSP00000324687:R52Q	ENSP00000324687:R52Q	R	-	2	0	OR2T33	246503585	0.000000	0.05858	0.002000	0.10522	0.090000	0.18270	-1.049000	0.03514	-0.537000	0.06290	-0.450000	0.05554	CGG		0.527	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		33	200	0	0	0	0	33	200				
OR2M7	391196	broad.mit.edu	37	1	248486986	248486986	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:248486986C>A	ENST00000317965.2	-	1	913	c.885G>T	c.(883-885)aaG>aaT	p.K295N		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGTCACTTCCTTGTTGCGGA	0.423																																						uc010pzk.1		NA																	0				skin(2)	2						c.(883-885)AAG>AAT		olfactory receptor, family 2, subfamily M,							78.0	76.0	77.0					1																	248486986		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248486986C>A	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.885G>T	1.37:g.248486986C>A	ENSP00000324557:p.Lys295Asn						p.K295N	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	885	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		295			Cytoplasmic (Potential).		B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.885G>T	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	C	3.704	-0.060980	0.07317	.	.	ENSG00000177186	ENST00000317965	T	0.45668	0.89	1.55	-0.391	0.12446	.	.	.	.	.	T	0.42988	0.1227	M	0.81112	2.525	0.25142	N	0.990497	B	0.26775	0.159	B	0.30105	0.111	T	0.48681	-0.9014	9	0.87932	D	0	.	5.9318	0.19142	0.0:0.4288:0.0:0.5712	.	295	Q8NG81	OR2M7_HUMAN	N	295	ENSP00000324557:K295N	ENSP00000324557:K295N	K	-	3	2	OR2M7	246553609	0.000000	0.05858	0.799000	0.32177	0.090000	0.18270	-1.791000	0.01758	0.005000	0.14708	0.194000	0.17425	AAG		0.423	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		13	108	1	0	1.05e-09	1.24e-09	13	108				
COL13A1	1305	broad.mit.edu	37	10	71707080	71707080	+	Silent	SNP	C	C	T	rs555259357		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr10:71707080C>T	ENST00000398978.3	+	37	2499	c.2007C>T	c.(2005-2007)ccC>ccT	p.P669P	COL13A1_ENST00000398969.3_Silent_p.P597P|COL13A1_ENST00000398974.3_Silent_p.P657P|COL13A1_ENST00000398968.3_Silent_p.P650P|COL13A1_ENST00000398972.3_Silent_p.P655P|COL13A1_ENST00000354547.3_Silent_p.P647P|COL13A1_ENST00000398971.3_Silent_p.P654P|COL13A1_ENST00000356340.3_Silent_p.P669P|COL13A1_ENST00000522165.1_Silent_p.P638P|COL13A1_ENST00000357811.3_Silent_p.P635P|COL13A1_ENST00000517713.1_Silent_p.P620P|COL13A1_ENST00000398973.3_Silent_p.P643P|COL13A1_ENST00000520267.1_Silent_p.P597P|COL13A1_ENST00000398966.3_Silent_p.P647P|COL13A1_ENST00000520133.1_Silent_p.P591P|COL13A1_ENST00000398964.3_Silent_p.P640P	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						ATGGACCACCCGGGGACAAGG	0.517																																						uc001jpr.1		NA																	0				ovary(1)	1						c.(2005-2007)CCC>CCT		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						86.0	87.0	87.0					10																	71707080		1908	4121	6029	SO:0001819	synonymous_variant	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71707080C>T	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.2007C>T	10.37:g.71707080C>T						COL13A1_uc001jqj.1_Silent_p.P642P|COL13A1_uc001jps.1_Silent_p.P640P|COL13A1_uc001jpt.1_Silent_p.P628P|COL13A1_uc001jpu.1_Silent_p.P638P|COL13A1_uc001jpv.1_Silent_p.P643P|COL13A1_uc001jpx.1_Silent_p.P620P|COL13A1_uc001jpw.1_Silent_p.P616P|COL13A1_uc001jpy.1_Silent_p.P607P|COL13A1_uc001jpz.1_Silent_p.P612P|COL13A1_uc001jqa.1_Silent_p.P609P|COL13A1_uc001jqc.1_Silent_p.P654P|COL13A1_uc001jqb.1_Silent_p.P591P|COL13A1_uc001jql.2_Silent_p.P669P|COL13A1_uc001jqd.1_Silent_p.P657P|COL13A1_uc001jqe.1_Silent_p.P652P|COL13A1_uc001jqf.1_Silent_p.P650P|COL13A1_uc001jqg.1_Silent_p.P647P|COL13A1_uc001jqh.1_Silent_p.P657P|COL13A1_uc001jqi.1_Silent_p.P655P|COL13A1_uc010qjf.1_Silent_p.P444P	p.P669P	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			36	2543	+			669			Extracellular (Potential).|Triple-helical region 3 (COL3).			Silent	SNP	ENST00000398978.3	37	c.2007C>T	CCDS44419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.384|9.384	1.073749|1.073749	0.20147|0.20147	.|.	.|.	ENSG00000197467|ENSG00000197467	ENST00000398975|ENST00000456019	D|.	0.96685|.	-4.09|.	6.03|6.03	-0.601|-0.601	0.11638|0.11638	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|T	0.38852|0.38852	0.1056|0.1056	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.25984|0.25984	-1.0116|-1.0116	7|4	0.72032|.	D|.	0.01|.	-5.8174|-5.8174	0.2096|0.2096	0.00155|0.00155	0.2355:0.1986:0.2307:0.3352|0.2355:0.1986:0.2307:0.3352	.|.	.|.	.|.	.|.	L|W	199|126	ENSP00000381947:P199L|.	ENSP00000381947:P199L|.	P|R	+|+	2|1	0|2	COL13A1|COL13A1	71377086|71377086	0.005000|0.005000	0.15991|0.15991	0.996000|0.996000	0.52242|0.52242	0.995000|0.995000	0.86356|0.86356	-1.494000|-1.494000	0.02296|0.02296	-0.079000|-0.079000	0.12707|0.12707	-0.137000|-0.137000	0.14449|0.14449	CCG|CGG		0.517	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		4	80	0	0	0	0	4	80				
KIF20B	9585	broad.mit.edu	37	10	91476203	91476203	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr10:91476203G>C	ENST00000371728.3	+	9	1016	c.951G>C	c.(949-951)tgG>tgC	p.W317C	KIF20B_ENST00000394289.2_Missense_Mutation_p.W317C|KIF20B_ENST00000416354.1_Missense_Mutation_p.W317C|KIF20B_ENST00000260753.4_Missense_Mutation_p.W317C	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	317	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATCTACAATGGATTCAAGTAT	0.303																																						uc001kgs.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(949-951)TGG>TGC		M-phase phosphoprotein 1							24.0	25.0	25.0					10																	91476203		2203	4291	6494	SO:0001583	missense	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91476203G>C	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.951G>C	10.37:g.91476203G>C	ENSP00000360793:p.Trp317Cys					KIF20B_uc001kgr.1_Missense_Mutation_p.W317C	p.W317C	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			9	1023	+			317			Kinesin-motor.		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37	c.951G>C		.	.	.	.	.	.	.	.	.	.	G	19.70	3.875861	0.72180	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	5.21	5.21	0.72293	Kinesin, motor domain (4);	0.000000	0.47093	D	0.000257	D	0.83229	0.5209	L	0.47716	1.5	0.80722	D	1	D;B	0.89917	1.0;0.104	D;B	0.91635	0.999;0.057	D	0.83795	0.0233	10	0.56958	D	0.05	-3.9146	19.1145	0.93332	0.0:0.0:1.0:0.0	.	317;317	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	C	317	ENSP00000260753:W317C;ENSP00000411545:W317C;ENSP00000377830:W317C;ENSP00000360793:W317C	ENSP00000260753:W317C	W	+	3	0	KIF20B	91466183	1.000000	0.71417	0.994000	0.49952	0.928000	0.56348	9.111000	0.94308	2.597000	0.87782	0.591000	0.81541	TGG		0.303	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		5	46	0	0	0	0	5	46				
CYP26C1	340665	broad.mit.edu	37	10	94824176	94824176	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr10:94824176G>A	ENST00000285949.5	+	4	744	c.744G>A	c.(742-744)gaG>gaA	p.E248E		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	248					anterior/posterior pattern specification (GO:0009952)|central nervous system development (GO:0007417)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|organelle fusion (GO:0048284)|oxidation-reduction process (GO:0055114)|retinoic acid catabolic process (GO:0034653)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GGCACCTGGAGGGGGCCATTT	0.612																																						uc010qns.1		NA																	0				central_nervous_system(1)	1						c.(742-744)GAG>GAA		cytochrome P450, family 26, subfamily C,							61.0	58.0	59.0					10																	94824176		2203	4300	6503	SO:0001819	synonymous_variant	340665				anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94824176G>A		CCDS7425.1	10q23.33	2003-11-20			ENSG00000187553	ENSG00000187553		"""Cytochrome P450s"""	20577	protein-coding gene	gene with protein product		608428					Standard	XR_246086		Approved		uc010qns.2	Q6V0L0	OTTHUMG00000018766	ENST00000285949.5:c.744G>A	10.37:g.94824176G>A						CYP26C1_uc009xud.2_Intron	p.E248E	NM_183374	NP_899230	Q6V0L0	CP26C_HUMAN			4	744	+		Colorectal(252;0.122)	248					Q5VXH6	Silent	SNP	ENST00000285949.5	37	c.744G>A	CCDS7425.1																																																																																				0.612	CYP26C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049409.2	NM_183374		3	66	0	0	0	0	3	66				
PDZD7	79955	broad.mit.edu	37	10	102781636	102781636	+	Silent	SNP	G	G	A	rs148746572	byFrequency	TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr10:102781636G>A	ENST00000370215.3	-	6	1011	c.786C>T	c.(784-786)aaC>aaT	p.N262N		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	262	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		ACCTGACACCGTTGGCTGCCA	0.622													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18935	0.0		0.001	False		,,,				2504	0.0					uc001kso.1		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(784-786)AAC>AAT		PDZ domain containing 7		G	,	0,4406		0,0,2203	193.0	145.0	161.0		786,786	-2.2	1.0	10	dbSNP_134	161	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous	PDZD7	NM_001195263.1,NM_024895.4	,	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	,	262/1034,262/518	102781636	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	79955					cilium|nucleus	protein binding	g.chr10:102781636G>A	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.786C>T	10.37:g.102781636G>A						PDZD7_uc001ksn.2_Silent_p.N262N	p.N262N	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	6	1001	-			262			PDZ 2.		D5FJ77|Q8N321	Silent	SNP	ENST00000370215.3	37	c.786C>T	CCDS31269.1																																																																																				0.622	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		24	160	0	0	0	0	24	160				
HTRA1	5654	broad.mit.edu	37	10	124266371	124266371	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr10:124266371G>A	ENST00000368984.3	+	4	1070	c.942G>A	c.(940-942)atG>atA	p.M314I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	314	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ACTCAGACATGGACTACATCC	0.602																																						uc001lgj.2		NA																	0					0						c.(940-942)ATG>ATA		HtrA serine peptidase 1 precursor							83.0	61.0	68.0					10																	124266371		2203	4300	6503	SO:0001583	missense	5654				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr10:124266371G>A	AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.942G>A	10.37:g.124266371G>A	ENSP00000357980:p.Met314Ile						p.M314I	NM_002775	NP_002766	Q92743	HTRA1_HUMAN			4	1070	+		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)	314			Serine protease.		D3DRE4|Q9UNS5	Missense_Mutation	SNP	ENST00000368984.3	37	c.942G>A	CCDS7630.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453785	0.63290	.	.	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	D;D	0.88509	-2.34;-2.39	5.24	5.24	0.73138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.036206	0.85682	D	0.000000	T	0.78355	0.4270	N	0.01410	-0.885	0.80722	D	1	P	0.35821	0.523	B	0.41571	0.36	T	0.81360	-0.0968	10	0.38643	T	0.18	-6.7134	18.8615	0.92273	0.0:0.0:1.0:0.0	.	314	Q92743	HTRA1_HUMAN	I	314;281;55	ENSP00000357980:M314I;ENSP00000412676:M55I	ENSP00000357980:M314I	M	+	3	0	HTRA1	124256361	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.631000	0.83237	2.456000	0.83038	0.655000	0.94253	ATG		0.602	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775		15	78	0	0	0	0	15	78				
OR5P2	120065	broad.mit.edu	37	11	7817810	7817810	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:7817810G>T	ENST00000329434.2	-	1	710	c.680C>A	c.(679-681)aCt>aAt	p.T227N	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGCCCCTCAGTGGAGCGCAT	0.483																																						uc001mfp.1		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(679-681)ACT>AAT		olfactory receptor, family 5, subfamily P,							111.0	113.0	112.0					11																	7817810		2107	4292	6399	SO:0001583	missense	120065				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7817810G>T	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.680C>A	11.37:g.7817810G>T	ENSP00000331823:p.Thr227Asn						p.T227N	NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	680	-			227			Cytoplasmic (Potential).		Q3MIS8	Missense_Mutation	SNP	ENST00000329434.2	37	c.680C>A	CCDS7782.1	.	.	.	.	.	.	.	.	.	.	G	4.677	0.125880	0.08931	.	.	ENSG00000183303	ENST00000329434	T	0.00130	8.69	5.5	1.25	0.21368	GPCR, rhodopsin-like superfamily (1);	0.664334	0.14587	N	0.310490	T	0.00178	0.0005	L	0.46885	1.475	0.09310	N	1	B	0.18310	0.027	B	0.27262	0.078	T	0.21518	-1.0243	10	0.66056	D	0.02	-17.6852	9.4842	0.38919	0.0:0.2424:0.4751:0.2825	.	227	Q8WZ92	OR5P2_HUMAN	N	227	ENSP00000331823:T227N	ENSP00000331823:T227N	T	-	2	0	OR5P2	7774386	0.000000	0.05858	0.195000	0.23364	0.272000	0.26649	0.060000	0.14342	0.391000	0.25143	-1.175000	0.01729	ACT		0.483	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1	NM_153444		7	122	1	0	0.00198382	0.00215053	7	122				
SPON1	10418	broad.mit.edu	37	11	14282159	14282159	+	RNA	SNP	A	A	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:14282159A>T	ENST00000534587.1	-	0	480				SPON1_ENST00000310358.7_RNA																							TGCTGTCCCCATGGTCCGAGT	0.547																																						uc001mle.2		NA																	0					0						c.(1855-1857)CCA>CCT		spondin 1, extracellular matrix protein							97.0	97.0	97.0					11																	14282159		2087	4215	6302			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14282159A>T																													11.37:g.14282159A>T							p.P619P	NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	15	2395	+			619			TSP type-1 4.			Silent	SNP	ENST00000534587.1	37	c.1857A>T																																																																																					0.547	RP11-21L19.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000386031.1			10	85	0	0	0	0	10	85				
CELF1	10658	broad.mit.edu	37	11	47508744	47508744	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:47508744C>G	ENST00000358597.3	-	2	227	c.228G>C	c.(226-228)caG>caC	p.Q76H	CELF1_ENST00000395292.2_Missense_Mutation_p.Q76H|CELF1_ENST00000310513.5_Missense_Mutation_p.Q76H|CELF1_ENST00000361904.3_Missense_Mutation_p.Q76H|CELF1_ENST00000395290.2_Missense_Mutation_p.Q76H|CELF1_ENST00000532048.1_Missense_Mutation_p.Q103H|CELF1_ENST00000531165.1_Missense_Mutation_p.Q103H|AC090559.1_ENST00000578625.1_RNA			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	76	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						GAAGAGCATTCTGAGCTTCTA	0.373																																					Pancreas(163;1949 1966 9906 43218 43785)	uc001nfl.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(226-228)CAG>CAC		CUG triplet repeat, RNA-binding protein 1							113.0	116.0	115.0					11																	47508744		2201	4298	6499	SO:0001583	missense	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47508744C>G	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.228G>C	11.37:g.47508744C>G	ENSP00000351409:p.Gln76His					CELF1_uc001nfm.2_Missense_Mutation_p.Q76H|CELF1_uc001nfn.2_Missense_Mutation_p.Q76H|CELF1_uc001nfo.1_Missense_Mutation_p.Q103H|CELF1_uc010rhm.1_Missense_Mutation_p.Q76H|CELF1_uc001nfp.2_Missense_Mutation_p.Q103H|CELF1_uc001nfq.1_Missense_Mutation_p.Q76H|CELF1_uc001nfr.1_Missense_Mutation_p.Q76H	p.Q76H	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN			2	238	-			76			RRM 1.		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	c.228G>C	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625008	0.87560	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048;ENST00000530151;ENST00000528434;ENST00000525841;ENST00000543178;ENST00000535982	T;T;T;T;T;T;T;T;T;T;T;T	0.35048	2.36;2.36;2.36;2.36;2.36;2.36;2.36;2.36;2.36;2.36;2.36;1.33	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	0.57446	0.2054	L	0.48877	1.53	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.998;0.998;0.999;0.998	D;D;D;D;D;D	0.85130	0.997;0.997;0.98;0.98;0.989;0.988	T	0.54139	-0.8338	10	0.66056	D	0.02	-7.1075	20.5948	0.99439	0.0:1.0:0.0:0.0	.	76;103;103;76;76;76	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	H	76;76;76;76;76;103;103;76;103;76;76;103	ENSP00000378705:Q76H;ENSP00000351409:Q76H;ENSP00000378706:Q76H;ENSP00000308386:Q76H;ENSP00000354639:Q76H;ENSP00000436864:Q103H;ENSP00000435926:Q103H;ENSP00000433986:Q76H;ENSP00000435320:Q103H;ENSP00000436191:Q76H;ENSP00000444825:Q76H;ENSP00000438044:Q103H	ENSP00000308386:Q76H	Q	-	3	2	CELF1	47465320	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.563000	0.53784	2.873000	0.98535	0.563000	0.77884	CAG		0.373	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		4	187	0	0	0	0	4	187				
OR5R1	219479	broad.mit.edu	37	11	56185534	56185534	+	Missense_Mutation	SNP	T	T	A	rs202091524		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:56185534T>A	ENST00000312253.1	-	1	174	c.175A>T	c.(175-177)Atg>Ttg	p.M59L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AAATAGTACATAGGTGTGTGG	0.438																																						uc010rji.1		NA																	0				ovary(2)	2						c.(175-177)ATG>TTG		olfactory receptor, family 5, subfamily R,							142.0	132.0	135.0					11																	56185534		2201	4296	6497	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185534T>A	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.175A>T	11.37:g.56185534T>A	ENSP00000308595:p.Met59Leu						p.M59L	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	175	-	Esophageal squamous(21;0.00448)		59			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000312253.1	37	c.175A>T	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.182533	0.57800	.	.	ENSG00000174942	ENST00000312253	T	0.08458	3.09	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.185676	0.25596	U	0.029597	T	0.22322	0.0538	M	0.93763	3.455	0.32953	D	0.520057	B	0.10296	0.003	B	0.12837	0.008	T	0.28073	-1.0055	10	0.72032	D	0.01	-13.9358	15.4677	0.75416	0.0:0.0:0.0:1.0	.	59	Q8NH85	OR5R1_HUMAN	L	59	ENSP00000308595:M59L	ENSP00000308595:M59L	M	-	1	0	OR5R1	55942110	1.000000	0.71417	0.933000	0.37362	0.589000	0.36550	4.873000	0.63057	2.144000	0.66660	0.247000	0.18012	ATG		0.438	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		10	73	0	0	0	0	10	73				
SSRP1	6749	broad.mit.edu	37	11	57094220	57094220	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:57094220G>A	ENST00000278412.2	-	16	2281	c.2015C>T	c.(2014-2016)tCt>tTt	p.S672F	RP11-872D17.4_ENST00000534162.1_RNA|snoU13_ENST00000459327.1_RNA|TNKS1BP1_ENST00000358252.3_5'Flank	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	672	Ser-rich.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CTCTCCCGAAGAGCTCTCATC	0.552																																					Colon(89;1000 1340 6884 23013 41819)	uc001njt.2		NA																	0				ovary(2)	2						c.(2014-2016)TCT>TTT		structure specific recognition protein 1							147.0	139.0	141.0					11																	57094220		2201	4296	6497	SO:0001583	missense	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57094220G>A	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.2015C>T	11.37:g.57094220G>A	ENSP00000278412:p.Ser672Phe					TNKS1BP1_uc001njs.2_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	p.S672F	NM_003146	NP_003137	Q08945	SSRP1_HUMAN			16	2282	-			672			Ser-rich.		Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.2015C>T	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428421	0.62844	.	.	ENSG00000149136	ENST00000278412	D	0.93604	-3.25	5.06	5.06	0.68205	.	0.146627	0.48767	D	0.000172	D	0.95411	0.8510	L	0.47716	1.5	0.80722	D	1	D	0.58970	0.984	D	0.72982	0.979	D	0.95953	0.8956	10	0.72032	D	0.01	.	18.0292	0.89278	0.0:0.0:1.0:0.0	.	672	Q08945	SSRP1_HUMAN	F	672	ENSP00000278412:S672F	ENSP00000278412:S672F	S	-	2	0	SSRP1	56850796	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	8.107000	0.89557	2.352000	0.79861	0.462000	0.41574	TCT		0.552	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		6	146	0	0	0	0	6	146				
CTNND1	1500	broad.mit.edu	37	11	57569359	57569359	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:57569359G>T	ENST00000399050.4	+	7	1647	c.1111G>T	c.(1111-1113)Gtg>Ttg	p.V371L	CTNND1_ENST00000415361.2_Missense_Mutation_p.V270L|CTNND1_ENST00000361796.4_Missense_Mutation_p.V371L|CTNND1_ENST00000532787.1_Missense_Mutation_p.V270L|CTNND1_ENST00000361332.4_Missense_Mutation_p.V371L|CTNND1_ENST00000530748.1_Missense_Mutation_p.V317L|CTNND1_ENST00000360682.6_Missense_Mutation_p.V371L|CTNND1_ENST00000534579.1_Missense_Mutation_p.V317L|CTNND1_ENST00000528621.1_Missense_Mutation_p.V317L|CTNND1_ENST00000532463.1_Missense_Mutation_p.V270L|CTNND1_ENST00000529919.1_Missense_Mutation_p.V371L|CTNND1_ENST00000529873.1_Missense_Mutation_p.V317L|CTNND1_ENST00000528232.1_Missense_Mutation_p.V270L|CTNND1_ENST00000533667.1_Missense_Mutation_p.V48L|CTNND1_ENST00000530094.1_Missense_Mutation_p.V270L|CTNND1_ENST00000532245.1_Missense_Mutation_p.V270L|CTNND1_ENST00000358694.6_Missense_Mutation_p.V371L|CTNND1_ENST00000527467.1_Missense_Mutation_p.V48L|CTNND1_ENST00000526938.1_Missense_Mutation_p.V371L|CTNND1_ENST00000529526.1_Missense_Mutation_p.V317L|CTNND1_ENST00000524630.1_Missense_Mutation_p.V371L|CTNND1_ENST00000428599.2_Missense_Mutation_p.V371L|CTNND1_ENST00000525902.1_Missense_Mutation_p.V48L|CTNND1_ENST00000426142.2_Missense_Mutation_p.V270L|CTNND1_ENST00000526357.1_Missense_Mutation_p.V317L|CTNND1_ENST00000529986.1_Missense_Mutation_p.V270L|CTNND1_ENST00000361391.6_Missense_Mutation_p.V371L|CTNND1_ENST00000531014.1_Missense_Mutation_p.V48L|CTNND1_ENST00000532844.1_Missense_Mutation_p.V317L|CTNND1_ENST00000399039.4_Missense_Mutation_p.V371L|CTNND1_ENST00000532649.1_Missense_Mutation_p.V317L|CTNND1_ENST00000526772.1_Missense_Mutation_p.V48L	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	371					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GCTGCCAGAGGTGATCGCCAT	0.537																																						uc001nmc.3		NA																	0				breast(4)|ovary(1)|kidney(1)	6						c.(1111-1113)GTG>TTG		catenin, delta 1 isoform 1ABC							87.0	87.0	87.0					11																	57569359		2042	4198	6240	SO:0001583	missense	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57569359G>T	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1111G>T	11.37:g.57569359G>T	ENSP00000382004:p.Val371Leu					CTNND1_uc001nlh.1_Missense_Mutation_p.V371L|CTNND1_uc001nlu.3_Missense_Mutation_p.V270L|CTNND1_uc001nlt.3_Missense_Mutation_p.V270L|CTNND1_uc001nls.3_Missense_Mutation_p.V270L|CTNND1_uc001nlw.3_Missense_Mutation_p.V270L|CTNND1_uc001nmf.3_Missense_Mutation_p.V371L|CTNND1_uc001nmd.3_Missense_Mutation_p.V317L|CTNND1_uc001nlk.3_Missense_Mutation_p.V317L|CTNND1_uc001nme.3_Missense_Mutation_p.V371L|CTNND1_uc001nll.3_Missense_Mutation_p.V317L|CTNND1_uc001nmg.3_Missense_Mutation_p.V317L|CTNND1_uc001nlj.3_Missense_Mutation_p.V317L|CTNND1_uc001nlr.3_Missense_Mutation_p.V317L|CTNND1_uc001nlp.3_Missense_Mutation_p.V317L|CTNND1_uc001nlx.3_Missense_Mutation_p.V48L|CTNND1_uc001nlz.3_Missense_Mutation_p.V48L|CTNND1_uc009ymn.2_Missense_Mutation_p.V48L|CTNND1_uc001nlm.3_Missense_Mutation_p.V371L|CTNND1_uc001nly.3_Missense_Mutation_p.V48L|CTNND1_uc001nmb.3_Missense_Mutation_p.V48L|CTNND1_uc001nma.3_Missense_Mutation_p.V48L|CTNND1_uc001nmi.3_Missense_Mutation_p.V270L|CTNND1_uc001nmh.3_Missense_Mutation_p.V371L|CTNND1_uc001nlq.3_Missense_Mutation_p.V270L|CTNND1_uc001nln.3_Missense_Mutation_p.V371L|CTNND1_uc001nli.3_Missense_Mutation_p.V371L|CTNND1_uc001nlo.3_Missense_Mutation_p.V270L|CTNND1_uc001nlv.3_Missense_Mutation_p.V270L	p.V371L	NM_001085458	NP_001078927	O60716	CTND1_HUMAN			7	1682	+		all_epithelial(135;0.155)	371			ARM 1.		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.1111G>T	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074997	0.94000	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000533189;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.35789	1.48;1.48;1.48;1.29;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.58	5.58	0.84498	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58133	0.2101	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.67145	0.996;0.996;0.994;0.996;0.996;0.996;0.98;0.996;0.994	D;D;D;D;D;D;D;D;D	0.77557	0.99;0.99;0.978;0.99;0.99;0.99;0.973;0.99;0.978	T	0.59043	-0.7528	10	0.87932	D	0	-6.6298	19.1878	0.93651	0.0:0.0:1.0:0.0	.	371;371;371;270;317;317;371;371;371	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	L	371;371;371;48;371;371;317;270;371;371;371;270;270;371;270;48;317;317;317;371;48;270;48;48;317;48;317;317;270;270;270;317;371	ENSP00000436543:V371L;ENSP00000434808:V371L;ENSP00000381996:V371L;ENSP00000435242:V48L;ENSP00000353902:V371L;ENSP00000354907:V371L;ENSP00000436323:V317L;ENSP00000409930:V270L;ENSP00000382004:V371L;ENSP00000354785:V371L;ENSP00000354823:V371L;ENSP00000432075:V270L;ENSP00000437156:V270L;ENSP00000351527:V371L;ENSP00000434949:V270L;ENSP00000437051:V48L;ENSP00000435379:V317L;ENSP00000432243:V317L;ENSP00000436744:V317L;ENSP00000413586:V371L;ENSP00000434900:V48L;ENSP00000435266:V270L;ENSP00000432623:V48L;ENSP00000433158:V48L;ENSP00000435494:V317L;ENSP00000434672:V48L;ENSP00000433276:V317L;ENSP00000433334:V317L;ENSP00000437327:V270L;ENSP00000403518:V270L;ENSP00000434017:V270L;ENSP00000435789:V317L;ENSP00000432041:V371L	ENSP00000351527:V371L	V	+	1	0	CTNND1	57325935	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.367000	0.97148	2.618000	0.88619	0.557000	0.71058	GTG		0.537	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		6	104	1	0	0.000157383	0.000175021	6	104				
INTS5	80789	broad.mit.edu	37	11	62416747	62416747	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:62416747G>C	ENST00000330574.2	-	2	857	c.805C>G	c.(805-807)Cag>Gag	p.Q269E	GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	269					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GAGGGGGTCTGAGAAGAGCTT	0.577																																						uc001nud.2		NA																	0				ovary(2)	2						c.(805-807)CAG>GAG		integrator complex subunit 5							56.0	63.0	61.0					11																	62416747		2202	4299	6501	SO:0001583	missense	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416747G>C	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.805C>G	11.37:g.62416747G>C	ENSP00000327889:p.Gln269Glu					GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank	p.Q269E	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN			2	858	-			269					Q8N6W5|Q9C0G5	Missense_Mutation	SNP	ENST00000330574.2	37	c.805C>G	CCDS8027.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664689	0.29604	.	.	ENSG00000185085	ENST00000330574	.	.	.	4.56	3.6	0.41247	.	0.000000	0.39834	N	0.001254	T	0.22085	0.0532	N	0.08118	0	0.26761	N	0.97	B	0.14438	0.01	B	0.04013	0.001	T	0.12218	-1.0556	9	0.41790	T	0.15	.	10.6735	0.45772	0.0:0.1926:0.8074:0.0	.	269	Q6P9B9	INT5_HUMAN	E	269	.	ENSP00000327889:Q269E	Q	-	1	0	INTS5	62173323	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	3.117000	0.50407	2.378000	0.81104	0.650000	0.86243	CAG		0.577	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		4	70	0	0	0	0	4	70				
CCND1	595	broad.mit.edu	37	11	69457891	69457891	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:69457891C>T	ENST00000227507.2	+	2	518	c.291C>T	c.(289-291)agC>agT	p.S97S	CCND1_ENST00000536559.1_Intron	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	97	Cyclin N-terminal.				canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	TGAAAAAGAGCCGCCTGCAGC	0.602			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	uc001opa.2		NA		Dom	yes		11	11q13	595	T	cyclin D1			"""L, E"""	IGH@|FSTL3		CLL|B-ALL|breast		0				ovary(1)|lung(1)	2						c.(289-291)AGC>AGT		cyclin D1	Arsenic trioxide(DB01169)						38.0	38.0	38.0					11																	69457891		2197	4293	6490	SO:0001819	synonymous_variant	595				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	g.chr11:69457891C>T	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"""parathyroid adenomatosis 1"", ""B-cell CLL/lymphoma 1"", ""G1/S-specific cyclin D1"""	168461	"""cyclin D1 (PRAD1: parathyroid adenomatosis 1)"""	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.291C>T	11.37:g.69457891C>T		Multiple Myeloma(6;0.086)					p.S97S	NM_053056	NP_444284	P24385	CCND1_HUMAN	Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		2	500	+	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		97			Cyclin N-terminal.		Q6LEF0	Silent	SNP	ENST00000227507.2	37	c.291C>T	CCDS8191.1																																																																																				0.602	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2	NM_053056		4	101	0	0	0	0	4	101				
ORAOV1	220064	broad.mit.edu	37	11	69482751	69482751	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:69482751A>G	ENST00000535657.1	-	4	338	c.257T>C	c.(256-258)aTt>aCt	p.I86T	ORAOV1_ENST00000539414.1_Missense_Mutation_p.I86T|ORAOV1_ENST00000536870.1_Missense_Mutation_p.I27T|ORAOV1_ENST00000279147.4_Missense_Mutation_p.I86T			Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	86										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			GATCATTCCAATCAATGATTC	0.403																																						uc001opc.2		NA																	0					0						c.(256-258)ATT>ACT		oral cancer overexpressed 1							161.0	151.0	155.0					11																	69482751		2200	4294	6494	SO:0001583	missense	220064							g.chr11:69482751A>G		CCDS8192.1	11q13.2	2010-11-23			ENSG00000149716	ENSG00000149716			17589	protein-coding gene	gene with protein product	"""oral cancer overexpressed protein 1-A"""	607224				12172009	Standard	NM_153451		Approved	TAOS1	uc001opc.3	Q8WV07		ENST00000535657.1:c.257T>C	11.37:g.69482751A>G	ENSP00000446129:p.Ile86Thr					ORAOV1_uc010rqi.1_Missense_Mutation_p.I86T|ORAOV1_uc009ysm.2_RNA|ORAOV1_uc001opd.2_Missense_Mutation_p.I27T	p.I86T	NM_153451	NP_703152	Q8WV07	ORAV1_HUMAN	Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		4	415	-	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		86					B2R4R2|Q8NFK0	Missense_Mutation	SNP	ENST00000535657.1	37	c.257T>C	CCDS8192.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.660114	0.67586	.	.	ENSG00000149716	ENST00000538554;ENST00000376587;ENST00000279147;ENST00000536870;ENST00000535657;ENST00000539414	T;T;T;T;T	0.46063	0.93;0.96;0.88;0.96;0.98	4.62	4.62	0.57501	.	0.283676	0.29119	N	0.013086	T	0.55130	0.1901	M	0.71581	2.175	0.80722	D	1	D;D;P	0.65815	0.995;0.988;0.828	P;P;B	0.58721	0.829;0.844;0.197	T	0.53265	-0.8463	10	0.20519	T	0.43	-25.6893	12.6174	0.56584	1.0:0.0:0.0:0.0	.	86;27;86	B4DFA5;F5GWS9;Q8WV07	.;.;ORAV1_HUMAN	T	86;86;86;27;86;86	ENSP00000446428:I86T;ENSP00000279147:I86T;ENSP00000441984:I27T;ENSP00000446129:I86T;ENSP00000444112:I86T	ENSP00000279147:I86T	I	-	2	0	ORAOV1	69191932	0.995000	0.38212	0.016000	0.15963	0.973000	0.67179	6.706000	0.74649	1.717000	0.51406	0.448000	0.29417	ATT		0.403	ORAOV1-009	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000396821.1	NM_153451		9	699	0	0	0	0	9	699				
TAGLN	6876	broad.mit.edu	37	11	117075006	117075006	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:117075006G>A	ENST00000532870.1	+	4	1678	c.537G>A	c.(535-537)atG>atA	p.M179I	TAGLN_ENST00000392951.4_Missense_Mutation_p.M179I|TAGLN_ENST00000530649.1_Missense_Mutation_p.M179I|PCSK7_ENST00000529458.1_5'Flank			Q01995	TAGL_HUMAN	transgelin	179				M -> V (in Ref. 2; AAA58375). {ECO:0000305}.	epithelial cell differentiation (GO:0030855)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)				central_nervous_system(1)|large_intestine(4)|lung(1)|urinary_tract(1)	7	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)		GCCTTCAGATGGGCAGCAACA	0.587																																						uc001pqm.2		NA																	0					0						c.(535-537)ATG>ATA		transgelin							82.0	86.0	85.0					11																	117075006		2201	4296	6497	SO:0001583	missense	6876				muscle organ development	cytoplasm	actin binding	g.chr11:117075006G>A	M95787	CCDS8381.1	11q23.2	2008-07-21				ENSG00000149591			11553	protein-coding gene	gene with protein product	"""SM22-alpha"", ""transgelin variant 2"""	600818				8117285, 1520290	Standard	NM_003186		Approved	SM22, WS3-10, TAGLN1, SMCC, DKFZp686P11128	uc001pqm.3	Q01995		ENST00000532870.1:c.537G>A	11.37:g.117075006G>A	ENSP00000432282:p.Met179Ile					uc001pqk.1_5'Flank|TAGLN_uc001pql.1_Intron|TAGLN_uc001pqn.2_Missense_Mutation_p.M179I|TAGLN_uc001pqo.2_Missense_Mutation_p.M179I|TAGLN_uc001pqp.2_Missense_Mutation_p.M179I|uc001pqq.1_5'Flank	p.M179I	NM_003186	NP_003177	Q01995	TAGL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|Epithelial(105;5.49e-05)|all cancers(92;0.000435)	5	658	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	179	M -> V (in Ref. 2; AAA58375).		Calponin-like.		O15542	Missense_Mutation	SNP	ENST00000532870.1	37	c.537G>A	CCDS8381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.658258|4.658258	0.88154|0.88154	.|.	.|.	ENSG00000149591|ENSG00000149591	ENST00000392951;ENST00000525531;ENST00000278968;ENST00000530649;ENST00000532870|ENST00000529622	T;T;T;T;T|.	0.58940|.	0.3;0.3;0.3;0.3;0.3|.	4.63|4.63	4.63|4.63	0.57726|0.57726	Calponin homology domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87362|.	0.6158|.	H|H	0.96111|0.96111	3.77|3.77	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.73380|.	0.98|.	D|.	0.91514|.	0.5229|.	10|.	0.56958|.	D|.	0.05|.	.|.	16.2375|16.2375	0.82384|0.82384	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	179|.	Q01995|.	TAGL_HUMAN|.	I|X	179|129	ENSP00000376678:M179I;ENSP00000432054:M179I;ENSP00000278968:M179I;ENSP00000431941:M179I;ENSP00000432282:M179I|.	ENSP00000278968:M179I|.	M|W	+|+	3|2	0|0	TAGLN|TAGLN	116580216|116580216	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.208000|9.208000	0.95075|0.95075	2.411000|2.411000	0.81874|0.81874	0.491000|0.491000	0.48974|0.48974	ATG|TGG		0.587	TAGLN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392864.1	NM_001001522		3	99	0	0	0	0	3	99				
HYOU1	10525	broad.mit.edu	37	11	118921809	118921809	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:118921809C>T	ENST00000404233.3	-	14	1727	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	HYOU1_ENST00000525859.1_Missense_Mutation_p.E535K|HYOU1_ENST00000543287.1_Missense_Mutation_p.E448K|HYOU1_ENST00000529972.1_Missense_Mutation_p.E535K	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	535					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)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.E535K(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CCCTTGGACTCGTAGTCAGGA	0.527																																						uc001puu.2		NA																	1	Substitution - Missense(1)		prostate(1)		0						c.(1603-1605)GAG>AAG		hypoxia up-regulated 1 precursor							182.0	150.0	161.0					11																	118921809		2200	4295	6495	SO:0001583	missense	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118921809C>T	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.1603G>A	11.37:g.118921809C>T	ENSP00000384144:p.Glu535Lys					HYOU1_uc001put.2_Missense_Mutation_p.E500K|HYOU1_uc010ryu.1_Missense_Mutation_p.E555K|HYOU1_uc010ryv.1_Missense_Mutation_p.E424K|HYOU1_uc001pux.3_Missense_Mutation_p.E535K|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.E535K	p.E535K	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	14	1796	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	535					A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	c.1603G>A	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	C	35	5.586377	0.96578	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.02197	4.89;4.88;4.88;4.4;4.63	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	L	0.60012	1.86	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.968;0.992;0.992	T	0.00243	-1.1884	10	0.72032	D	0.01	-36.5392	19.2125	0.93763	0.0:1.0:0.0:0.0	.	526;579;535;535	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	K	535;526;535;535;384;535;578;448;535	ENSP00000384144:E535K;ENSP00000437313:E535K;ENSP00000433397:E535K;ENSP00000442727:E448K;ENSP00000431874:E535K	ENSP00000278752:E526K	E	-	1	0	HYOU1	118427019	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	7.278000	0.78587	2.840000	0.97914	0.655000	0.94253	GAG		0.527	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		6	81	0	0	0	0	6	81				
CD163	9332	broad.mit.edu	37	12	7637727	7637727	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:7637727G>C	ENST00000359156.4	-	11	2946	c.2744C>G	c.(2743-2745)gCc>gGc	p.A915G	CD163_ENST00000432237.2_Missense_Mutation_p.A915G|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000541972.1_Missense_Mutation_p.A903G|CD163_ENST00000396620.3_Missense_Mutation_p.A948G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	915	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CGAGGGGCTGGCCAGTCTCTT	0.517																																						uc001qsz.3		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(2743-2745)GCC>GGC		CD163 antigen isoform a							114.0	117.0	116.0					12																	7637727		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7637727G>C	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2744C>G	12.37:g.7637727G>C	ENSP00000352071:p.Ala915Gly					CD163_uc001qta.3_Missense_Mutation_p.A915G|CD163_uc009zfw.2_Missense_Mutation_p.A948G	p.A915G	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			11	2872	-			915			SRCR 8.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.2744C>G	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	9.979	1.227657	0.22542	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.54	2.61	0.31194	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.658410	0.03341	N	0.194789	T	0.41236	0.1150	L	0.39898	1.24	0.09310	N	1	P;P;P	0.48998	0.863;0.906;0.918	P;P;P	0.49252	0.604;0.6;0.604	T	0.26916	-1.0089	10	0.48119	T	0.1	.	8.3168	0.32104	0.0842:0.301:0.6148:0.0	.	948;915;915	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	G	915;903;948;915	ENSP00000352071:A915G;ENSP00000444071:A903G;ENSP00000379863:A948G;ENSP00000403885:A915G	ENSP00000352071:A915G	A	-	2	0	CD163	7528994	0.011000	0.17503	0.004000	0.12327	0.001000	0.01503	0.097000	0.15168	0.791000	0.33826	-0.181000	0.13052	GCC		0.517	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		18	214	0	0	0	0	18	214				
EPS8	2059	broad.mit.edu	37	12	15776179	15776179	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:15776179G>T	ENST00000281172.5	-	20	2704	c.2268C>A	c.(2266-2268)ttC>ttA	p.F756L	EPS8_ENST00000543612.1_Missense_Mutation_p.F756L|EPS8_ENST00000540613.1_Missense_Mutation_p.F496L|EPS8_ENST00000542903.1_Missense_Mutation_p.F496L|EPS8_ENST00000543523.1_Missense_Mutation_p.F756L	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	756	Effector region. {ECO:0000250}.|Helix bundle 2. {ECO:0000250}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TATTGAGAGAGAAAAGTTGTG	0.378																																						uc009zif.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(2266-2268)TTC>TTA		epidermal growth factor receptor pathway							118.0	120.0	119.0					12																	15776179		2203	4300	6503	SO:0001583	missense	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15776179G>T	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.2268C>A	12.37:g.15776179G>T	ENSP00000281172:p.Phe756Leu					EPS8_uc001rdb.2_Missense_Mutation_p.F756L|EPS8_uc009zig.2_Missense_Mutation_p.F496L|EPS8_uc010shv.1_Missense_Mutation_p.F496L	p.F756L	NM_004447	NP_004438	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	20	2362	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	756					A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.2268C>A	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615314	0.87359	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.66	2.83	0.33086	.	0.000000	0.85682	D	0.000000	T	0.31918	0.0812	L	0.45422	1.42	0.53005	D	0.999965	D	0.53151	0.958	P	0.55161	0.77	T	0.02132	-1.1208	10	0.45353	T	0.12	-14.1933	9.7503	0.40473	0.2234:0.0:0.7766:0.0	.	756	Q12929	EPS8_HUMAN	L	756;756;756;496;496	ENSP00000441867:F756L;ENSP00000281172:F756L;ENSP00000442388:F756L;ENSP00000441888:F496L;ENSP00000437806:F496L	ENSP00000281172:F756L	F	-	3	2	EPS8	15667446	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	3.491000	0.53252	0.735000	0.32537	-0.142000	0.14014	TTC		0.378	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			19	120	1	0	1.68e-08	1.96e-08	19	120				
OR6C70	390327	broad.mit.edu	37	12	55863666	55863666	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:55863666C>T	ENST00000327335.4	-	1	256	c.257G>A	c.(256-258)aGg>aAg	p.R86K	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GGTCTTTTCCCTGGTAACAAT	0.378																																						uc010spn.1		NA																	0				skin(1)	1						c.(256-258)AGG>AAG		olfactory receptor, family 6, subfamily C,							62.0	61.0	61.0					12																	55863666		2203	4300	6503	SO:0001583	missense	390327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55863666C>T		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.257G>A	12.37:g.55863666C>T	ENSP00000329153:p.Arg86Lys						p.R86K	NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN			1	257	-			86			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000327335.4	37	c.257G>A	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	C	1.351	-0.591438	0.03799	.	.	ENSG00000184954	ENST00000327335	T	0.02890	4.12	4.06	-5.94	0.02247	GPCR, rhodopsin-like superfamily (1);	0.774860	0.11381	N	0.569788	T	0.01320	0.0043	N	0.02736	-0.51	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46555	-0.9183	10	0.44086	T	0.13	.	10.7859	0.46405	0.0:0.1854:0.1106:0.704	.	86	A6NIJ9	O6C70_HUMAN	K	86	ENSP00000329153:R86K	ENSP00000329153:R86K	R	-	2	0	OR6C70	54149933	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.967000	0.03821	-1.613000	0.01577	-0.793000	0.03317	AGG		0.378	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1			18	131	0	0	0	0	18	131				
DNAJC14	85406	broad.mit.edu	37	12	56221277	56221277	+	Missense_Mutation	SNP	C	C	T	rs548413242		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:56221277C>T	ENST00000357606.3	-	3	1455	c.1166G>A	c.(1165-1167)cGg>cAg	p.R389Q	DNAJC14_ENST00000317269.3_Missense_Mutation_p.R389Q|TMEM198B_ENST00000478241.1_RNA|RP11-762I7.5_ENST00000546837.1_Silent_p.A18A|DNAJC14_ENST00000317287.5_Missense_Mutation_p.R389Q			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	389					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TCTTACCAGCCGCTGCCATGG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		18349	0.0		0.0	False		,,,				2504	0.001					uc001shx.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(1165-1167)CGG>CAG		dopamine receptor interacting protein							76.0	77.0	77.0					12																	56221277		2203	4300	6503	SO:0001583	missense	85406				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:56221277C>T	AF141342	CCDS8894.1	12q12	2011-09-02				ENSG00000135392		"""Heat shock proteins / DNAJ (HSP40)"""	24581	protein-coding gene	gene with protein product		606092				11331877, 11984006	Standard	NM_032364		Approved	DNAJ, DRIP78, HDJ3, LIP6, FLJ32792	uc001shu.2	Q6Y2X3		ENST00000357606.3:c.1166G>A	12.37:g.56221277C>T	ENSP00000350223:p.Arg389Gln					DNAJC14_uc001shu.1_Missense_Mutation_p.R389Q|DNAJC14_uc009zob.1_Missense_Mutation_p.R389Q|DNAJC14_uc001shy.1_Missense_Mutation_p.R389Q	p.R389Q	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN			2	1370	-			389					A5YM67|Q17RY2|Q66K17|Q96N59|Q96T63	Missense_Mutation	SNP	ENST00000357606.3	37	c.1166G>A	CCDS8894.1	.	.	.	.	.	.	.	.	.	.	C	1.384	-0.582724	0.03827	.	.	ENSG00000135392	ENST00000357606;ENST00000317269;ENST00000537962;ENST00000317287	T;T;T	0.33438	1.41;1.41;1.41	5.47	3.0	0.34707	.	0.231489	0.30620	N	0.009234	T	0.08179	0.0204	N	0.01576	-0.805	0.25573	N	0.98688	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37337	-0.9710	10	0.02654	T	1	-2.3595	6.3091	0.21154	0.0:0.2674:0.0:0.7326	.	389;389	Q6Y2X3;A8K5A7	DJC14_HUMAN;.	Q	389;389;99;389	ENSP00000350223:R389Q;ENSP00000316240:R389Q;ENSP00000317500:R389Q	ENSP00000316240:R389Q	R	-	2	0	DNAJC14	54507544	0.990000	0.36364	1.000000	0.80357	0.503000	0.33858	0.429000	0.21412	1.013000	0.39391	-0.290000	0.09829	CGG		0.547	DNAJC14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409095.1	NM_032364		7	157	0	0	0	0	7	157				
TIMELESS	8914	broad.mit.edu	37	12	56814387	56814387	+	Missense_Mutation	SNP	C	C	T	rs555662252		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:56814387C>T	ENST00000553532.1	-	26	3344	c.3194G>A	c.(3193-3195)cGc>cAc	p.R1065H	TIMELESS_ENST00000229201.4_Missense_Mutation_p.R1064H|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R562H					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCCTAGCTTGCGCAACAGCTG	0.517													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21350	0.0		0.0	False		,,,				2504	0.0					uc001slf.2		NA																	0				ovary(5)|breast(2)|pancreas(1)	8						c.(3193-3195)CGC>CAC		timeless homolog							127.0	106.0	113.0					12																	56814387		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56814387C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.3194G>A	12.37:g.56814387C>T	ENSP00000450607:p.Arg1065His						p.R1065H	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			26	3362	-			1065						Missense_Mutation	SNP	ENST00000553532.1	37	c.3194G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974761	0.74360	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.13657	2.57;2.57;2.57	5.34	3.52	0.40303	Timeless C-terminal (1);	0.346038	0.29980	N	0.010710	T	0.27594	0.0678	M	0.69823	2.125	0.22737	N	0.998797	D	0.58970	0.984	P	0.57468	0.821	T	0.05289	-1.0894	10	0.59425	D	0.04	-0.3321	8.9025	0.35503	0.0:0.7645:0.0:0.2355	.	1065	Q9UNS1	TIM_HUMAN	H	1064;1065;562	ENSP00000229201:R1064H;ENSP00000450607:R1065H;ENSP00000450848:R562H	ENSP00000229201:R1065H	R	-	2	0	TIMELESS	55100654	0.996000	0.38824	0.990000	0.47175	0.867000	0.49689	1.574000	0.36482	0.753000	0.32945	-0.258000	0.10820	CGC		0.517	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		11	148	0	0	0	0	11	148				
TIMELESS	8914	broad.mit.edu	37	12	56814831	56814831	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:56814831C>T	ENST00000553532.1	-	24	3106	c.2956G>A	c.(2956-2958)Gaa>Aaa	p.E986K	TIMELESS_ENST00000229201.4_Missense_Mutation_p.E985K|TIMELESS_ENST00000554616.1_Missense_Mutation_p.E483K					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCCCCTTCTTCTTCCTCTTCG	0.478																																						uc001slf.2		NA																	0				ovary(5)|breast(2)|pancreas(1)	8						c.(2956-2958)GAA>AAA		timeless homolog							128.0	123.0	124.0					12																	56814831		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56814831C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2956G>A	12.37:g.56814831C>T	ENSP00000450607:p.Glu986Lys						p.E986K	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			24	3124	-			986						Missense_Mutation	SNP	ENST00000553532.1	37	c.2956G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	0.991	-0.693996	0.03303	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.12255	2.7;2.7;2.7	5.53	5.53	0.82687	Timeless C-terminal (1);	0.748570	0.12961	N	0.424967	T	0.05456	0.0144	N	0.01576	-0.805	0.20926	N	0.999829	B	0.24317	0.101	B	0.25506	0.061	T	0.12760	-1.0535	10	0.05721	T	0.95	-1.229	15.336	0.74255	0.0:1.0:0.0:0.0	.	986	Q9UNS1	TIM_HUMAN	K	985;986;483	ENSP00000229201:E985K;ENSP00000450607:E986K;ENSP00000450848:E483K	ENSP00000229201:E986K	E	-	1	0	TIMELESS	55101098	0.622000	0.27085	0.124000	0.21820	0.037000	0.13140	4.812000	0.62613	2.771000	0.95319	0.561000	0.74099	GAA		0.478	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		13	236	0	0	0	0	13	236				
TIMELESS	8914	broad.mit.edu	37	12	56815188	56815188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:56815188C>A	ENST00000553532.1	-	23	2965	c.2815G>T	c.(2815-2817)Gag>Tag	p.E939*	TIMELESS_ENST00000229201.4_Nonsense_Mutation_p.E938*|TIMELESS_ENST00000554616.1_Nonsense_Mutation_p.E436*					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCCCGCCGCTCAGCCACCAGC	0.512																																						uc001slf.2		NA																	0				ovary(5)|breast(2)|pancreas(1)	8						c.(2815-2817)GAG>TAG		timeless homolog							115.0	113.0	114.0					12																	56815188		2203	4300	6503	SO:0001587	stop_gained	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56815188C>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2815G>T	12.37:g.56815188C>A	ENSP00000450607:p.Glu939*						p.E939*	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			23	2983	-			939						Nonsense_Mutation	SNP	ENST00000553532.1	37	c.2815G>T	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	41	8.923776	0.99004	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	.	.	.	4.99	4.1	0.47936	.	0.061099	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.1762	12.9305	0.58284	0.0:0.9179:0.0:0.0821	.	.	.	.	X	938;939;436	.	ENSP00000229201:E939X	E	-	1	0	TIMELESS	55101455	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	5.432000	0.66514	1.417000	0.47077	0.555000	0.69702	GAG		0.512	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		11	205	1	0	4.38e-07	5.03e-07	11	205				
PIP4K2C	79837	broad.mit.edu	37	12	57992919	57992919	+	Silent	SNP	C	C	T	rs147041101		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:57992919C>T	ENST00000354947.5	+	5	601	c.585C>T	c.(583-585)aaC>aaT	p.N195N	PIP4K2C_ENST00000550465.1_Silent_p.N177N|PIP4K2C_ENST00000422156.3_Silent_p.N147N|PIP4K2C_ENST00000540759.2_Silent_p.N195N			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	195	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GTGTGGACAACGAAGACAGCT	0.512																																						uc001sou.2		NA																	0				central_nervous_system(2)|lung(1)	3						c.(583-585)AAC>AAT		phosphatidylinositol-5-phosphate 4-kinase, type		C	,,,	1,4405	2.1+/-5.4	0,1,2202	179.0	140.0	153.0		585,531,441,585	-10.8	0.1	12	dbSNP_134	153	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PIP4K2C	NM_001146258.1,NM_001146259.1,NM_001146260.1,NM_024779.4	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	195/422,177/404,147/374,195/422	57992919	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57992919C>T	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.585C>T	12.37:g.57992919C>T						PIP4K2C_uc001sot.2_Silent_p.N195N|PIP4K2C_uc010srs.1_Silent_p.N177N|PIP4K2C_uc010srt.1_Silent_p.N147N	p.N195N	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN			5	716	+	Melanoma(17;0.122)		195			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Silent	SNP	ENST00000354947.5	37	c.585C>T	CCDS8946.1	.	.	.	.	.	.	.	.	.	.	c	8.199	0.797715	0.16327	2.27E-4	0.0	ENSG00000166908	ENST00000548264	.	.	.	5.39	-10.8	0.00216	.	.	.	.	.	T	0.64918	0.2642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77197	-0.2676	4	.	.	.	-11.4979	19.9952	0.97382	0.0:0.2463:0.0:0.7537	.	.	.	.	M	16	.	.	T	+	2	0	PIP4K2C	56279186	0.000000	0.05858	0.092000	0.20876	0.982000	0.71751	-5.439000	0.00122	-2.476000	0.00526	-0.611000	0.04053	ACG		0.512	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		14	138	0	0	0	0	14	138				
TMTC2	160335	broad.mit.edu	37	12	83251023	83251023	+	Silent	SNP	C	C	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:83251023C>A	ENST00000321196.3	+	2	1025	c.318C>A	c.(316-318)tcC>tcA	p.S106S	TMTC2_ENST00000549919.1_Silent_p.S100S|TMTC2_ENST00000548305.1_Silent_p.S106S	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	106					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CAAGCTTCTCCAAGATCCTCC	0.522																																						uc001szt.2		NA																	0				ovary(2)	2						c.(316-318)TCC>TCA		transmembrane and tetratricopeptide repeat							137.0	132.0	134.0					12																	83251023		2203	4300	6503	SO:0001819	synonymous_variant	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83251023C>A	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.318C>A	12.37:g.83251023C>A						TMTC2_uc001szr.1_Silent_p.S106S|TMTC2_uc001szs.1_Silent_p.S106S|TMTC2_uc010suk.1_Intron	p.S106S	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			2	750	+			106					B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	37	c.318C>A	CCDS9025.1																																																																																				0.522	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588		16	141	1	0	2.63e-14	3.16e-14	16	141				
GCN1L1	10985	broad.mit.edu	37	12	120597955	120597955	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:120597955C>T	ENST00000300648.6	-	23	2553	c.2541G>A	c.(2539-2541)cgG>cgA	p.R847R		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	847					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCCTGCAGCCGCCTCCGGA	0.612																																						uc001txo.2		NA																	0				ovary(4)	4						c.(2539-2541)CGG>CGA		GCN1 general control of amino-acid synthesis							73.0	78.0	76.0					12																	120597955		2077	4201	6278	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120597955C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.2541G>A	12.37:g.120597955C>T							p.R847R	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			23	2554	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		847					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.2541G>A	CCDS41847.1																																																																																				0.612	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			4	86	0	0	0	0	4	86				
SETDB2	83852	broad.mit.edu	37	13	50054403	50054403	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr13:50054403C>T	ENST00000317257.8	+	8	1779	c.954C>T	c.(952-954)tcC>tcT	p.S318S	SETDB2_ENST00000354234.4_Silent_p.S306S|SETDB2_ENST00000258672.5_Silent_p.S306S	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	318	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		CCAAAACTTCCCCCTTGTCAA	0.408																																						uc001vcz.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(952-954)TCC>TCT		SET domain, bifurcated 2 isoform a							130.0	134.0	133.0					13																	50054403		2203	4300	6503	SO:0001819	synonymous_variant	83852				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding	g.chr13:50054403C>T	AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.954C>T	13.37:g.50054403C>T						SETDB2_uc010adg.2_Silent_p.S294S|SETDB2_uc001vcy.3_Silent_p.S306S|SETDB2_uc010adh.2_Silent_p.S306S|SETDB2_uc001vda.2_Silent_p.S306S	p.S318S	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)	8	1860	+		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	318			Pre-SET.		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Silent	SNP	ENST00000317257.8	37	c.954C>T	CCDS9417.1																																																																																				0.408	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044925.1	NM_031915		23	270	0	0	0	0	23	270				
ATP4B	496	broad.mit.edu	37	13	114307336	114307336	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr13:114307336T>C	ENST00000335288.4	-	4	448	c.407A>G	c.(406-408)tAc>tGc	p.Y136C		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	136					cell adhesion (GO:0007155)|hydrogen ion transmembrane transport (GO:1902600)|ion transmembrane transport (GO:0034220)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	hydrogen:potassium-exchanging ATPase activity (GO:0008900)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)			CTGGAAGAAGTACTGCTCGGA	0.617																																						uc001vtz.2		NA																	0				ovary(1)	1						c.(406-408)TAC>TGC		hydrogen/potassium-exchanging ATPase 4B	Rabeprazole(DB01129)						111.0	97.0	102.0					13																	114307336		2203	4300	6503	SO:0001583	missense	496				ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity	g.chr13:114307336T>C		CCDS9539.1	13q34	2011-08-01			ENSG00000186009	ENSG00000186009	3.6.3.10	"""ATPases / P-type"""	820	protein-coding gene	gene with protein product		137217				1330887, 15057823	Standard	NM_000705		Approved	ATP6B	uc001vtz.3	P51164	OTTHUMG00000140234	ENST00000335288.4:c.407A>G	13.37:g.114307336T>C	ENSP00000334216:p.Tyr136Cys					ATP4B_uc010agy.1_Missense_Mutation_p.Y136C	p.Y136C	NM_000705	NP_000696	P51164	ATP4B_HUMAN	all cancers(43;0.171)		4	449	-	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	136			Extracellular (Potential).		B1B0N8	Missense_Mutation	SNP	ENST00000335288.4	37	c.407A>G	CCDS9539.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304223	0.40795	.	.	ENSG00000186009	ENST00000335288	T	0.34275	1.37	4.61	3.39	0.38822	.	0.496381	0.19599	N	0.110428	T	0.60444	0.2269	M	0.90483	3.12	0.43426	D	0.995582	D	0.71674	0.998	D	0.64877	0.93	T	0.60796	-0.7192	10	0.45353	T	0.12	-3.5918	8.518	0.33257	0.173:0.0:0.0:0.827	.	136	P51164	ATP4B_HUMAN	C	136	ENSP00000334216:Y136C	ENSP00000334216:Y136C	Y	-	2	0	ATP4B	113355337	1.000000	0.71417	0.843000	0.33291	0.322000	0.28314	4.187000	0.58344	0.680000	0.31366	0.402000	0.26972	TAC		0.617	ATP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276703.2	NM_000705		5	96	0	0	0	0	5	96				
GPATCH2L	55668	broad.mit.edu	37	14	76644359	76644359	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr14:76644359C>G	ENST00000261530.7	+	7	1147	c.1081C>G	c.(1081-1083)Cct>Gct	p.P361A	GPATCH2L_ENST00000312858.5_Intron|GPATCH2L_ENST00000553588.1_5'Flank	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	361																	TTCTGATTTTCCTCACATTTC	0.338																																						uc001xsh.2		NA																	0				ovary(2)|skin(1)	3						c.(1081-1083)CCT>GCT		hypothetical protein LOC55668 isoform 1							175.0	179.0	178.0					14																	76644359		2202	4300	6502	SO:0001583	missense	55668							g.chr14:76644359C>G	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.1081C>G	14.37:g.76644359C>G	ENSP00000261530:p.Pro361Ala					C14orf118_uc001xsi.2_Intron|C14orf118_uc001xsl.2_Intron	p.P361A	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0172)	7	1167	+			361					B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	ENST00000261530.7	37	c.1081C>G	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	C	9.736	1.163529	0.21538	.	.	ENSG00000089916	ENST00000261530	T	0.44482	0.92	5.2	4.32	0.51571	.	1.074330	0.07272	N	0.869352	T	0.25717	0.0626	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.18561	0.022	T	0.09207	-1.0685	10	0.45353	T	0.12	-36.0317	7.0532	0.25085	0.0:0.7014:0.1427:0.1559	.	361	Q9NWQ4	CN118_HUMAN	A	361	ENSP00000261530:P361A	ENSP00000261530:P361A	P	+	1	0	C14orf118	75714112	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.161000	0.31773	1.323000	0.45263	0.655000	0.94253	CCT		0.338	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		3	125	0	0	0	0	3	125				
ANGEL1	23357	broad.mit.edu	37	14	77269772	77269772	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr14:77269772G>A	ENST00000251089.2	-	7	1672	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	ANGEL1_ENST00000557179.1_Silent_p.I85I	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	520										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCTGACAAGCGATGCTGCAGA	0.473																																						uc001xsv.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1558-1560)ATC>ATT		angel homolog 1							117.0	111.0	113.0					14																	77269772		2203	4300	6503	SO:0001819	synonymous_variant	23357							g.chr14:77269772G>A	AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1560C>T	14.37:g.77269772G>A						ANGEL1_uc010tvf.1_Intron	p.I520I	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)	7	1673	-			520					B4DWL7|O94859|Q8NCS9	Silent	SNP	ENST00000251089.2	37	c.1560C>T	CCDS9852.1																																																																																				0.473	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413712.2	NM_015305		5	91	0	0	0	0	5	91				
TMEM63C	57156	broad.mit.edu	37	14	77685844	77685844	+	Missense_Mutation	SNP	G	G	A	rs576313695		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr14:77685844G>A	ENST00000298351.4	+	4	298	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	RP11-463C8.4_ENST00000557752.1_3'UTR	NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	52					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCTGTAGCTCGTCCTTGTGGT	0.592																																						uc001xtf.2		NA																	0					0						c.(154-156)GTC>ATC		transmembrane protein 63C							120.0	128.0	125.0					14																	77685844		2122	4232	6354	SO:0001583	missense	57156					integral to membrane		g.chr14:77685844G>A		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.154G>A	14.37:g.77685844G>A	ENSP00000298351:p.Val52Ile					TMEM63C_uc010asq.1_Missense_Mutation_p.V52I	p.V52I	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	4	366	+			52			Helical; (Potential).		B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	ENST00000298351.4	37	c.154G>A	CCDS45141.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175802	0.57692	.	.	ENSG00000165548	ENST00000554766;ENST00000298351	T;T	0.36520	1.25;1.25	4.14	-1.98	0.07480	.	0.311639	0.29964	N	0.010747	T	0.12860	0.0312	N	0.04043	-0.29	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.12785	-1.0534	10	0.38643	T	0.18	-12.3159	5.2614	0.15576	0.3079:0.1695:0.5226:0.0	.	52	Q9P1W3	TM63C_HUMAN	I	52	ENSP00000451842:V52I;ENSP00000298351:V52I	ENSP00000298351:V52I	V	+	1	0	TMEM63C	76755597	0.797000	0.28877	0.083000	0.20561	0.964000	0.63967	0.791000	0.26915	-0.036000	0.13669	0.471000	0.43371	GTC		0.592	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			17	155	0	0	0	0	17	155				
AVEN	57099	broad.mit.edu	37	15	34163164	34163164	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr15:34163164C>T	ENST00000306730.3	-	4	713	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	AVEN_ENST00000558136.1_5'UTR	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	195					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	intracellular (GO:0005622)|membrane (GO:0016020)				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)		AACGTTGAGTCGGAGGCAGAG	0.443																																						uc001zhj.2		NA																	0				kidney(1)	1						c.(583-585)CGA>CAA		cell death regulator aven							56.0	50.0	52.0					15																	34163164		2201	4298	6499	SO:0001583	missense	57099				anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding	g.chr15:34163164C>T	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.584G>A	15.37:g.34163164C>T	ENSP00000306822:p.Arg195Gln						p.R195Q	NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)	4	640	-		all_lung(180;1.78e-08)	195						Missense_Mutation	SNP	ENST00000306730.3	37	c.584G>A	CCDS10030.1	.	.	.	.	.	.	.	.	.	.	C	34	5.410940	0.96072	.	.	ENSG00000169857	ENST00000306730	T	0.63255	-0.03	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.78142	0.4237	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78597	-0.2142	10	0.72032	D	0.01	-11.897	18.671	0.91512	0.0:1.0:0.0:0.0	.	195	Q9NQS1	AVEN_HUMAN	Q	195	ENSP00000306822:R195Q	ENSP00000306822:R195Q	R	-	2	0	AVEN	31950456	1.000000	0.71417	0.946000	0.38457	0.917000	0.54804	4.248000	0.58760	2.885000	0.99019	0.655000	0.94253	CGA		0.443	AVEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251523.2	NM_020371		5	46	0	0	0	0	5	46				
HERC1	8925	broad.mit.edu	37	15	64067311	64067311	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr15:64067311G>A	ENST00000443617.2	-	2	599	c.512C>T	c.(511-513)gCg>gTg	p.A171V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	171					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCTTAGAAGCGCAAATAATAA	0.448																																						uc002amp.2		NA																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(511-513)GCG>GTG		hect domain and RCC1-like domain 1							229.0	229.0	229.0					15																	64067311		1961	4156	6117	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64067311G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.512C>T	15.37:g.64067311G>A	ENSP00000390158:p.Ala171Val					HERC1_uc010uil.1_Missense_Mutation_p.A171V|HERC1_uc010bgt.1_Missense_Mutation_p.A171V|HERC1_uc002amq.1_Missense_Mutation_p.A171V	p.A171V	NM_003922	NP_003913	Q15751	HERC1_HUMAN			2	660	-			171					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.512C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	34	5.357791	0.95854	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.00518	6.86	5.64	5.64	0.86602	.	0.000000	0.64402	U	0.000001	T	0.01695	0.0054	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.996	D;P;P	0.69307	0.963;0.558;0.665	T	0.67738	-0.5593	10	0.66056	D	0.02	.	19.7186	0.96134	0.0:0.0:1.0:0.0	.	171;171;171	B4DKS2;C9JUT5;Q15751	.;.;HERC1_HUMAN	V	171	ENSP00000390158:A171V	ENSP00000389613:A171V	A	-	2	0	HERC1	61854364	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.796000	0.99103	2.659000	0.90383	0.655000	0.94253	GCG		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		5	387	0	0	0	0	5	387				
ISLR2	57611	broad.mit.edu	37	15	74427051	74427051	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr15:74427051C>T	ENST00000361742.3	+	4	2725	c.1956C>T	c.(1954-1956)ctC>ctT	p.L652L	ISLR2_ENST00000419208.1_Silent_p.L652L|ISLR2_ENST00000445793.1_Silent_p.L652L|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Silent_p.L652L|ISLR2_ENST00000565159.1_Silent_p.L652L|ISLR2_ENST00000565540.1_Silent_p.L652L|ISLR2_ENST00000435464.1_Silent_p.L652L	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	652					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CTTCGTACCTCGAGTCCGAGA	0.677											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002axd.2		NA																	0					0						c.(1954-1956)CTC>CTT		immunoglobulin superfamily containing							34.0	39.0	38.0					15																	74427051		2197	4295	6492	SO:0001819	synonymous_variant	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74427051C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1956C>T	15.37:g.74427051C>T			OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1152	ISLR2_uc002axe.2_Silent_p.L652L|ISLR2_uc010bjg.2_Silent_p.L652L|ISLR2_uc010bjf.2_Silent_p.L652L	p.L652L	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	2725	+			652			Cytoplasmic (Potential).		A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	c.1956C>T	CCDS10259.1																																																																																				0.677	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		8	101	0	0	0	0	8	101				
PTPN9	5780	broad.mit.edu	37	15	75815511	75815511	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr15:75815511G>C	ENST00000306726.2	-	4	885	c.373C>G	c.(373-375)Cat>Gat	p.H125D		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	125	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTACCACATGTTGGACTGAC	0.428																																						uc002bal.2		NA																	0				lung(1)|skin(1)	2						c.(373-375)CAT>GAT		protein tyrosine phosphatase, non-receptor type							108.0	106.0	107.0					15																	75815511		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75815511G>C		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.373C>G	15.37:g.75815511G>C	ENSP00000303554:p.His125Asp						p.H125D	NM_002833	NP_002824	P43378	PTN9_HUMAN			4	881	-			125			CRAL-TRIO.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.373C>G	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358259	0.82243	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	T	0.74002	-0.8	5.57	5.57	0.84162	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	N	0.16368	0.405	0.80722	D	1	B	0.33777	0.425	B	0.34418	0.182	T	0.64846	-0.6311	10	0.46703	T	0.11	.	18.1021	0.89509	0.0:0.0:1.0:0.0	.	125	P43378	PTN9_HUMAN	D	125;115	ENSP00000303554:H125D	ENSP00000303554:H125D	H	-	1	0	PTPN9	73602566	1.000000	0.71417	0.953000	0.39169	0.983000	0.72400	9.010000	0.93611	2.632000	0.89209	0.561000	0.74099	CAT		0.428	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			5	62	0	0	0	0	5	62				
AKAP13	11214	broad.mit.edu	37	15	86122930	86122930	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr15:86122930A>T	ENST00000394518.2	+	7	1726	c.1631A>T	c.(1630-1632)gAt>gTt	p.D544V	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.D544V	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	544					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGTTCCCTGGATGGTAACAAA	0.468																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1		NA																	0				central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(1630-1632)GAT>GTT		A-kinase anchor protein 13 isoform 2							86.0	93.0	90.0					15																	86122930		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86122930A>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1631A>T	15.37:g.86122930A>T	ENSP00000378026:p.Asp544Val					AKAP13_uc002blt.1_Missense_Mutation_p.D544V|AKAP13_uc002blu.1_Missense_Mutation_p.D544V	p.D544V	NM_007200	NP_009131	Q12802	AKP13_HUMAN			7	1801	+			544					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.1631A>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320475	0.60634	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.11821	2.74;2.74	5.87	-11.7	0.00046	.	.	.	.	.	T	0.06188	0.0160	N	0.24115	0.695	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.39860	-0.9593	9	0.66056	D	0.02	.	4.1181	0.10092	0.3789:0.1637:0.3757:0.0816	.	544;544	Q12802;Q12802-2	AKP13_HUMAN;.	V	544;544;543;543	ENSP00000354718:D544V;ENSP00000378026:D544V	ENSP00000354718:D544V	D	+	2	0	AKAP13	83923934	0.000000	0.05858	0.000000	0.03702	0.599000	0.36880	-1.307000	0.02733	-2.332000	0.00632	-0.177000	0.13119	GAT		0.468	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		15	126	0	0	0	0	15	126				
FANCI	55215	broad.mit.edu	37	15	89836226	89836226	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr15:89836226C>G	ENST00000310775.7	+	22	2309	c.2223C>G	c.(2221-2223)atC>atG	p.I741M	FANCI_ENST00000300027.8_Missense_Mutation_p.I741M	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	741					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AAAATAATATCTGTGCTTTTC	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc010bnp.1		NA																	0				ovary(2)	2						c.(2221-2223)ATC>ATG	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group I isoform							117.0	118.0	118.0					15																	89836226		2199	4299	6498	SO:0001583	missense	55215	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89836226C>G	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.2223C>G	15.37:g.89836226C>G	ENSP00000310842:p.Ile741Met					FANCI_uc002bnm.1_Missense_Mutation_p.I741M|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.I562M|FANCI_uc002bnq.1_Missense_Mutation_p.I154M	p.I741M	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN			22	2313	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		741					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.2223C>G	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382447	0.61845	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.32753	1.44;1.44;1.44	5.9	3.99	0.46301	.	0.045714	0.85682	D	0.000000	T	0.40119	0.1104	M	0.74881	2.28	0.80722	D	1	P;P;P	0.48089	0.842;0.905;0.905	P;P;P	0.49637	0.617;0.617;0.617	T	0.26744	-1.0094	10	0.62326	D	0.03	-2.899	6.7826	0.23654	0.1329:0.6716:0.128:0.0675	.	741;741;741	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	M	741	ENSP00000300027:I741M;ENSP00000310842:I741M;ENSP00000413249:I741M	ENSP00000300027:I741M	I	+	3	3	FANCI	87637230	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	1.386000	0.34419	0.807000	0.34208	0.563000	0.77884	ATC		0.313	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		15	139	0	0	0	0	15	139				
C16orf91	283951	broad.mit.edu	37	16	1478469	1478469	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr16:1478469G>A	ENST00000310355.1	-	2	181	c.182C>T	c.(181-183)gCg>gTg	p.A61V				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GTCCACCTGCGCCCGAAGCCT	0.672																																						uc010uvd.1		NA																	0					0						c.(181-183)GCG>GTG		hypothetical protein LOC283951							34.0	34.0	34.0					16																	1478469		2191	4297	6488	SO:0001583	missense	283951					integral to membrane		g.chr16:1478469G>A	BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"""cattle cerebrum and skeletal muscle-specific protein 1 family member"""						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000310355.1:c.182C>T	16.37:g.1478469G>A	ENSP00000311390:p.Ala61Val						p.A61V	NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN			2	182	-			Error:Variant_position_missing_in_Q4G0I0_after_alignment					Q96RZ0	Missense_Mutation	SNP	ENST00000310355.1	37	c.182C>T	CCDS32360.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178555	0.38511	.	.	ENSG00000174109	ENST00000310355	.	.	.	1.36	-2.71	0.05986	.	.	.	.	.	T	0.35970	0.0950	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41592	-0.9500	5	0.87932	D	0	.	4.6329	0.12511	0.1901:0.2585:0.5514:0.0	.	.	.	.	V	61	.	ENSP00000311390:A61V	A	-	2	0	C16orf91	1418470	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.904000	0.04080	-0.881000	0.03992	-0.333000	0.08304	GCG		0.672	C16orf91-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001010878		4	27	0	0	0	0	4	27				
UMOD	7369	broad.mit.edu	37	16	20352551	20352551	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr16:20352551G>A	ENST00000570689.1	-	7	1585	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	UMOD_ENST00000396134.2_Missense_Mutation_p.S513F|UMOD_ENST00000396142.2_Missense_Mutation_p.S480F|UMOD_ENST00000424589.1_Missense_Mutation_p.S513F|UMOD_ENST00000302509.4_Missense_Mutation_p.S480F|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396138.4_Missense_Mutation_p.S529F			P07911	UROM_HUMAN	uromodulin	480	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGCCTCAGTGGACAGTGTCAC	0.587																																						uc002dgz.2		NA																	0				ovary(1)|skin(1)	2						c.(1438-1440)TCC>TTC		uromodulin precursor							92.0	72.0	78.0					16																	20352551		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20352551G>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1439C>T	16.37:g.20352551G>A	ENSP00000460548:p.Ser480Phe					UMOD_uc002dha.2_Missense_Mutation_p.S480F|UMOD_uc002dhb.2_Missense_Mutation_p.S513F	p.S480F	NM_003361	NP_003352	P07911	UROM_HUMAN			7	1568	-			480			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1439C>T	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295188	0.81025	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.34	5.34	0.76211	Zona pellucida sperm-binding protein (3);	0.581257	0.15647	N	0.251614	D	0.92156	0.7513	M	0.86420	2.815	0.38112	D	0.937585	D;D	0.62365	0.991;0.966	D;D	0.68483	0.93;0.958	D	0.93478	0.6825	10	0.72032	D	0.01	-20.5847	16.9011	0.86114	0.0:0.0:1.0:0.0	.	513;480	E9PEA4;P07911	.;UROM_HUMAN	F	480;513;513;480;458;480	ENSP00000379438:S513F;ENSP00000416346:S513F;ENSP00000306279:S480F;ENSP00000379446:S480F	ENSP00000306279:S480F	S	-	2	0	UMOD	20260052	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	6.938000	0.75904	2.646000	0.89796	0.655000	0.94253	TCC		0.587	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			7	65	0	0	0	0	7	65				
E2F4	1874	broad.mit.edu	37	16	67234439	67234439	+	IGR	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr16:67234439C>T	ENST00000379378.3	+	0	2096				MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000477898.1_Missense_Mutation_p.P54S|ELMO3_ENST00000393997.2_Missense_Mutation_p.P220S|ELMO3_ENST00000360833.1_Missense_Mutation_p.P203S|ELMO3_ENST00000571638.1_3'UTR	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		TCTGAGCATCCCCTTTGTGAG	0.647																																						uc002esa.2		NA																	0					0						c.(658-660)CCC>TCC		engulfment and cell motility 3							48.0	49.0	49.0					16																	67234439		2031	4172	6203	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67234439C>T	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67234439C>T						ELMO3_uc002esb.2_Missense_Mutation_p.P203S|ELMO3_uc002esc.2_Missense_Mutation_p.P54S	p.P220S	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	6	701	+		Ovarian(137;0.0563)	167					A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.658C>T	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	C	0.929	-0.713359	0.03206	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.44881	0.91;0.91	4.62	2.48	0.30137	Armadillo-type fold (1);	0.505506	0.23512	N	0.047384	T	0.11153	0.0272	N	0.02011	-0.69	0.23585	N	0.997359	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.31833	-0.9929	10	0.02654	T	1	-13.8347	2.102	0.03682	0.3082:0.4311:0.1526:0.1081	.	167;203;220	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	S	203;220	ENSP00000354077:P203S;ENSP00000377566:P220S	ENSP00000354077:P203S	P	+	1	0	ELMO3	65791940	0.041000	0.20044	1.000000	0.80357	0.694000	0.40290	1.016000	0.29976	1.143000	0.42306	0.462000	0.41574	CCC		0.647	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950		14	109	0	0	0	0	14	109				
TSNAXIP1	55815	broad.mit.edu	37	16	67854801	67854801	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr16:67854801G>C	ENST00000388833.3	+	3	422	c.45G>C	c.(43-45)caG>caC	p.Q15H	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.Q69H|TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000415766.3_Intron	NM_018430.2	NP_060900.2			translin-associated factor X interacting protein 1											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CCAGTGGCCAGACCATTTTGC	0.577																																						uc002euj.2		NA																	0					0						c.(43-45)CAG>CAC		translin-associated factor X interacting protein							206.0	207.0	207.0					16																	67854801		1987	4149	6136	SO:0001583	missense	55815				cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		g.chr16:67854801G>C	AF132730	CCDS10846.2, CCDS73903.1, CCDS73904.1	16q22.2	2008-02-05			ENSG00000102904	ENSG00000102904			18586	protein-coding gene	gene with protein product		607720				12036294	Standard	XM_005256051		Approved	TXI1	uc002euj.3	Q2TAA8	OTTHUMG00000137545	ENST00000388833.3:c.45G>C	16.37:g.67854801G>C	ENSP00000373485:p.Gln15His					TSNAXIP1_uc010cep.2_5'UTR|TSNAXIP1_uc010vjz.1_Intron|TSNAXIP1_uc002euf.3_Intron|TSNAXIP1_uc010vka.1_Missense_Mutation_p.Q69H|TSNAXIP1_uc010vkb.1_Intron|TSNAXIP1_uc002eug.3_Intron|TSNAXIP1_uc002euh.3_Intron|TSNAXIP1_uc002eui.3_Intron|TSNAXIP1_uc002euk.2_5'Flank	p.Q15H	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)	3	439	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	15						Missense_Mutation	SNP	ENST00000388833.3	37	c.45G>C	CCDS10846.2	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688573	0.68271	.	.	ENSG00000102904	ENST00000388833	.	.	.	4.99	4.01	0.46588	.	0.091877	0.45361	D	0.000375	T	0.58821	0.2149	M	0.62723	1.935	0.32127	N	0.587222	D;D	0.55385	0.971;0.971	P;P	0.60473	0.875;0.875	T	0.66716	-0.5853	9	0.87932	D	0	-23.5652	9.5495	0.39301	0.159:0.0:0.841:0.0	.	69;15	B4DXD0;Q2TAA8	.;TXIP1_HUMAN	H	15	.	ENSP00000373485:Q15H	Q	+	3	2	TSNAXIP1	66412302	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.656000	0.37355	2.597000	0.87782	0.643000	0.83706	CAG		0.577	TSNAXIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268876.2	NM_018430		41	489	0	0	0	0	41	489				
CTDNEP1	23399	broad.mit.edu	37	17	7150389	7150389	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:7150389G>C	ENST00000573600.1	-	4	703	c.282C>G	c.(280-282)atC>atG	p.I94M	CTDNEP1_ENST00000574322.1_Missense_Mutation_p.I94M|CTDNEP1_ENST00000318988.6_Missense_Mutation_p.I94M|RP1-4G17.5_ENST00000577138.1_3'UTR|CTDNEP1_ENST00000572043.1_De_novo_Start_InFrame|CTD-2545G14.7_ENST00000570760.2_5'Flank			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	94	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						ACACCTTGAGGATGAAGTCAG	0.562																																						uc002gfd.2		NA																	0					0						c.(280-282)ATC>ATG		dullard homolog							97.0	89.0	91.0					17																	7150389		2203	4300	6503	SO:0001583	missense	23399				nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity	g.chr17:7150389G>C	AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	19085	protein-coding gene	gene with protein product	"""C-terminal domain nuclear envelope phosphatase 1"""	610684	"""dullard homolog (Xenopus laevis)"""	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.282C>G	17.37:g.7150389G>C	ENSP00000461749:p.Ile94Met					DULLARD_uc002gfe.2_Missense_Mutation_p.I94M|DULLARD_uc002gff.2_Missense_Mutation_p.I94M|DULLARD_uc002gfc.2_RNA	p.I94M	NM_001143775	NP_001137247	O95476	CNEP1_HUMAN			3	662	-			94			FCP1 homology.		D3DTN7|Q96GQ9	Missense_Mutation	SNP	ENST00000573600.1	37	c.282C>G	CCDS11093.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793534	0.31685	.	.	ENSG00000175826	ENST00000318988	T	0.17528	2.27	5.34	1.14	0.20703	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.11239	0.0274	L	0.31157	0.91	0.80722	D	1	B	0.25667	0.131	B	0.32393	0.145	T	0.14117	-1.0484	10	0.46703	T	0.11	-12.0118	3.9099	0.09199	0.3492:0.0:0.4942:0.1566	.	94	O95476	CNEP1_HUMAN	M	94	ENSP00000321732:I94M	ENSP00000321732:I94M	I	-	3	3	CTDNEP1	7091113	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	2.075000	0.41538	0.101000	0.17610	-0.145000	0.13849	ATC		0.562	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1	NM_015343		41	159	0	0	0	0	41	159				
ARHGAP44	9912	broad.mit.edu	37	17	12812249	12812249	+	Silent	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:12812249G>C	ENST00000379672.5	+	4	534	c.234G>C	c.(232-234)ctG>ctC	p.L78L	ARHGAP44_ENST00000262444.9_Silent_p.L78L|ARHGAP44_ENST00000340825.3_Silent_p.L78L	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	78	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CTCAGTGTCTGATGGAGGGGT	0.428																																						uc002gnr.3		NA																	0					0						c.(232-234)CTG>CTC		Rho GTPase-activating protein RICH2							213.0	213.0	213.0					17																	12812249		1979	4151	6130	SO:0001819	synonymous_variant	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12812249G>C		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.234G>C	17.37:g.12812249G>C						RICH2_uc010vvk.1_Silent_p.L78L|RICH2_uc010vvl.1_Silent_p.L78L|RICH2_uc002gns.3_5'UTR|RICH2_uc010vvm.1_Silent_p.L78L|RICH2_uc010vvn.1_RNA	p.L78L	NM_014859	NP_055674	Q17R89	RHG44_HUMAN			4	561	+			78			BAR.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Silent	SNP	ENST00000379672.5	37	c.234G>C	CCDS45616.1																																																																																				0.428	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		21	337	0	0	0	0	21	337				
SUZ12	23512	broad.mit.edu	37	17	30321584	30321584	+	Splice_Site	SNP	A	A	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:30321584A>G	ENST00000322652.5	+	13	1668	c.1439A>G	c.(1438-1440)tAt>tGt	p.Y480C	SUZ12_ENST00000580398.1_Splice_Site_p.Y457C	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	480					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TTGTTGCAGTATCATCCAAAA	0.323			T	JAZF1	endometrial stromal tumours																																	uc002hgs.2		NA		Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	JAZF1/SUZ12(131)	0				soft_tissue(98)|endometrium(33)	131						c.(1438-1440)TAT>TGT		joined to JAZF1							69.0	61.0	64.0					17																	30321584		2203	4300	6503	SO:0001630	splice_region_variant	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30321584A>G	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.1438-1A>G	17.37:g.30321584A>G						SUZ12_uc002hgt.2_Missense_Mutation_p.Y457C	p.Y480C	NM_015355	NP_056170	Q15022	SUZ12_HUMAN			13	1661	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	480					Q96BD9	Missense_Mutation	SNP	ENST00000322652.5	37	c.1439A>G	CCDS11270.1	.	.	.	.	.	.	.	.	.	.	a	10.33	1.319592	0.23994	.	.	ENSG00000178691	ENST00000322652	T	0.44083	0.93	5.08	4.0	0.46444	.	0.115862	0.64402	D	0.000011	T	0.25717	0.0626	N	0.14661	0.345	0.50467	D	0.999872	P;B	0.45078	0.85;0.0	B;B	0.40101	0.319;0.001	T	0.02868	-1.1100	10	0.41790	T	0.15	-3.256	10.7329	0.46107	0.9242:0.0:0.0758:0.0	.	480;480	A8K1U9;Q15022	.;SUZ12_HUMAN	C	480	ENSP00000316578:Y480C	ENSP00000316578:Y480C	Y	+	2	0	SUZ12	27345697	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.657000	0.74402	0.762000	0.33152	0.523000	0.50628	TAT		0.323	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	NM_015355	Missense_Mutation	7	75	0	0	0	0	7	75				
HOXB3	3213	broad.mit.edu	37	17	46627999	46627999	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:46627999C>T	ENST00000470495.1	-	2	2440	c.993G>A	c.(991-993)ccG>ccA	p.P331P	HOXB3_ENST00000489475.1_Silent_p.P258P|HOXB3_ENST00000490677.1_Silent_p.P197P|HOXB3_ENST00000498678.1_Silent_p.P331P|HOXB3_ENST00000485909.2_Silent_p.P199P|HOXB3_ENST00000460160.1_Silent_p.P199P|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Silent_p.P258P|HOXB3_ENST00000476342.1_Silent_p.P331P|HOXB3_ENST00000311626.4_Silent_p.P331P			P14651	HXB3_HUMAN	homeobox B3	331					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGAGGACGTGCGGCTCATACT	0.716											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002inn.2		NA																	0					0						c.(991-993)CCG>CCA		homeobox B3							21.0	28.0	26.0					17																	46627999		2197	4287	6484	SO:0001819	synonymous_variant	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46627999C>T		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.993G>A	17.37:g.46627999C>T			OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	940	HOXB3_uc010wlm.1_Silent_p.P258P|HOXB3_uc010dbf.2_Silent_p.P331P|HOXB3_uc010dbg.2_Silent_p.P331P|HOXB3_uc002ino.2_Silent_p.P331P|HOXB3_uc010wlk.1_Silent_p.P199P|HOXB3_uc010wll.1_Silent_p.P258P	p.P331P	NM_002146	NP_002137	P14651	HXB3_HUMAN			2	1393	-			331					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	37	c.993G>A	CCDS11528.1																																																																																				0.716	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			3	70	0	0	0	0	3	70				
MTMR4	9110	broad.mit.edu	37	17	56582201	56582201	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:56582201C>T	ENST00000323456.5	-	12	1362	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	MTMR4_ENST00000579925.1_Missense_Mutation_p.R413H	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	413	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.|Substrate binding. {ECO:0000250}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGCGGTGTGCGGTCCCAGCC	0.532																																						uc002iwj.2		NA																	0				skin(1)	1						c.(1237-1239)CGC>CAC		myotubularin related protein 4							131.0	124.0	127.0					17																	56582201		2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56582201C>T	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1238G>A	17.37:g.56582201C>T	ENSP00000325285:p.Arg413His						p.R413H	NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN			12	1348	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		413			Myotubularin phosphatase.|Substrate binding (By similarity).		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.1238G>A	CCDS11608.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211568	0.95069	.	.	ENSG00000108389	ENST00000323456	D	0.91740	-2.9	5.58	4.61	0.57282	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.050255	0.85682	N	0.000000	D	0.97892	0.9307	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98781	1.0732	10	0.87932	D	0	.	13.7194	0.62717	0.0:0.9259:0.0:0.0741	.	413	Q9NYA4	MTMR4_HUMAN	H	413	ENSP00000325285:R413H	ENSP00000325285:R413H	R	-	2	0	MTMR4	53937200	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	1.503000	0.48686	0.591000	0.81541	CGC		0.532	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		4	215	0	0	0	0	4	215				
PTRH2	51651	broad.mit.edu	37	17	57775074	57775074	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:57775074G>A	ENST00000470557.2	-	1	3712	c.266C>T	c.(265-267)gCt>gTt	p.A89V	PTRH2_ENST00000537860.1_Missense_Mutation_p.A89V|PTRH2_ENST00000409433.2_Missense_Mutation_p.A90V|PTRH2_ENST00000393038.2_Missense_Mutation_p.A89V|PTRH2_ENST00000579915.1_5'Flank			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	89					apoptotic process (GO:0006915)|negative regulation of anoikis (GO:2000811)|negative regulation of gene expression (GO:0010629)|positive regulation of anoikis (GO:2000210)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGAAACAGCAGCATGAGAGCA	0.478																																						uc002ixt.2		NA																	0					0						c.(265-267)GCT>GTT		Bcl-2 inhibitor of transcription precursor							175.0	160.0	165.0					17																	57775074		2203	4300	6503	SO:0001583	missense	51651				apoptosis|translation	mitochondrion	aminoacyl-tRNA hydrolase activity	g.chr17:57775074G>A	AF151905	CCDS11618.1	17q23.2	2014-07-18			ENSG00000141378	ENSG00000141378			24265	protein-coding gene	gene with protein product	"""Bcl-2 inhibitor of transcription"", ""cilia and flagella associated protein 37"""	608625				10810093, 15006356, 14660562	Standard	XM_005257447		Approved	BIT1, CGI-147, PTH2, CFAP37	uc002ixt.3	Q9Y3E5	OTTHUMG00000154532	ENST00000470557.2:c.266C>T	17.37:g.57775074G>A	ENSP00000464327:p.Ala89Val					PTRH2_uc002ixs.2_RNA	p.A89V	NM_016077	NP_057161	Q9Y3E5	PTH2_HUMAN			2	391	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		89					B3KUY4|Q9NTE5	Missense_Mutation	SNP	ENST00000470557.2	37	c.266C>T	CCDS11618.1	.	.	.	.	.	.	.	.	.	.	G	35	5.573387	0.96553	.	.	ENSG00000141378	ENST00000393038;ENST00000409433;ENST00000537860	.	.	.	5.82	5.82	0.92795	Peptidyl-tRNA hydrolase II domain (2);	0.000000	0.85682	U	0.000000	D	0.90031	0.6887	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92382	0.5914	9	0.87932	D	0	-11.9499	20.0953	0.97838	0.0:0.0:1.0:0.0	.	89	Q9Y3E5	PTH2_HUMAN	V	89;90;89	.	ENSP00000376758:A89V	A	-	2	0	PTRH2	55129856	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.672000	0.98629	2.767000	0.95098	0.655000	0.94253	GCT		0.478	PTRH2-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000448482.1	NM_016077		35	251	0	0	0	0	35	251				
PITPNC1	26207	broad.mit.edu	37	17	65688860	65688860	+	Silent	SNP	C	C	T	rs146560406	byFrequency	TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:65688860C>T	ENST00000581322.1	+	9	855	c.855C>T	c.(853-855)ccC>ccT	p.P285P	PITPNC1_ENST00000335257.6_Silent_p.P285P|PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000299954.9_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	285					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CAGACGCACCCGAATTTCTGT	0.557													C|||	5	0.000998403	0.0038	0.0	5008	,	,		15413	0.0		0.0	False		,,,				2504	0.0					uc002jgc.2		NA																	0				skin(1)	1						c.(853-855)CCC>CCT		phosphatidylinositol transfer protein,		C	,	18,3828		0,18,1905	100.0	104.0	103.0		855,	-10.9	0.3	17	dbSNP_134	103	0,8234		0,0,4117	no	coding-synonymous,utr-3	PITPNC1	NM_012417.2,NM_181671.1	,	0,18,6022	TT,TC,CC		0.0,0.468,0.149	,	285/333,	65688860	18,12062	1923	4117	6040	SO:0001819	synonymous_variant	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65688860C>T	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.855C>T	17.37:g.65688860C>T						PITPNC1_uc002jgb.2_3'UTR	p.P285P	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		9	1202	+	all_cancers(12;3.03e-10)		285					A8K473|J3QR20|Q96I07	Silent	SNP	ENST00000581322.1	37	c.855C>T	CCDS58588.1																																																																																				0.557	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417		7	170	0	0	0	0	7	170				
ABCA7	10347	broad.mit.edu	37	19	1043251	1043251	+	Splice_Site	SNP	G	G	A	rs553895954	byFrequency	TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:1043251G>A	ENST00000263094.6	+	8	1021		c.e8+1		ABCA7_ENST00000435683.2_Splice_Site|ABCA7_ENST00000433129.1_Splice_Site	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7						apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGCCTGAGTGAGTGACTG	0.657																																						uc002lqw.3		NA																	0				pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.e8+1		ATP-binding cassette, sub-family A, member 7							50.0	61.0	57.0					19																	1043251		2203	4299	6502	SO:0001630	splice_region_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1043251G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.790+1G>A	19.37:g.1043251G>A						ABCA7_uc010dsb.1_Splice_Site_p.S126_splice	p.S264_splice	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1021	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)						Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Splice_Site	SNP	ENST00000263094.6	37	c.790_splice	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848393	0.32699	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.174	0.54176	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCA7	994251	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	7.116000	0.77119	2.019000	0.59389	0.313000	0.20887	.		0.657	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	Intron	17	168	0	0	0	0	17	168				
MPND	84954	broad.mit.edu	37	19	4345805	4345805	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:4345805A>T	ENST00000262966.8	+	3	425	c.358A>T	c.(358-360)Acc>Tcc	p.T120S	MPND_ENST00000599840.1_Missense_Mutation_p.T120S|AC007292.7_ENST00000598582.1_RNA|MPND_ENST00000359935.4_Missense_Mutation_p.T120S|AC007292.4_ENST00000594776.1_RNA	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	120							peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCGGGCAGACCTTCAACTC	0.622																																						uc002mae.2		NA																	0				breast(1)	1						c.(358-360)ACC>TCC		MPN domain containing isoform 1							49.0	57.0	54.0					19																	4345805		2092	4196	6288	SO:0001583	missense	84954						peptidase activity	g.chr19:4345805A>T		CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.358A>T	19.37:g.4345805A>T	ENSP00000262966:p.Thr120Ser					MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.T120S|MPND_uc002maf.2_Missense_Mutation_p.T120S|MPND_uc002mah.2_Missense_Mutation_p.T8S|MPND_uc002mai.2_Missense_Mutation_p.T8S	p.T120S	NM_032868	NP_116257	Q8N594	MPND_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	3	425	+			120					Q96SJ0|Q9Y2P1|Q9Y2P2	Missense_Mutation	SNP	ENST00000262966.8	37	c.358A>T	CCDS42470.1	.	.	.	.	.	.	.	.	.	.	N	10.37	1.332464	0.24167	.	.	ENSG00000008382	ENST00000262966;ENST00000359935	T;T	0.42900	0.96;0.96	4.24	1.87	0.25490	.	0.294597	0.32028	N	0.006683	T	0.25754	0.0627	N	0.24115	0.695	0.19775	N	0.99996	B;B;B	0.28636	0.088;0.136;0.218	B;B;B	0.24006	0.05;0.05;0.05	T	0.17623	-1.0363	10	0.66056	D	0.02	-12.0428	8.7652	0.34698	0.1999:0.0:0.8001:0.0	.	120;120;120	Q8N594-2;A6NI36;Q8N594	.;.;MPND_HUMAN	S	120	ENSP00000262966:T120S;ENSP00000353015:T120S	ENSP00000262966:T120S	T	+	1	0	MPND	4296805	1.000000	0.71417	0.992000	0.48379	0.222000	0.24845	3.140000	0.50585	0.329000	0.23460	-0.608000	0.04076	ACC		0.622	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458292.1	NM_032868		9	86	0	0	0	0	9	86				
MPND	84954	broad.mit.edu	37	19	4357346	4357346	+	Missense_Mutation	SNP	G	G	A	rs61730129	byFrequency	TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:4357346G>A	ENST00000262966.8	+	9	1160	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	MPND_ENST00000599840.1_Missense_Mutation_p.A365T|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000359935.4_Missense_Mutation_p.A315T	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	365	MPN.						peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACATCGACGCACAGATGGA	0.672													G|||	5	0.000998403	0.0038	0.0	5008	,	,		16087	0.0		0.0	False		,,,				2504	0.0					uc002mae.2		NA																	0				breast(1)	1						c.(1093-1095)GCA>ACA		MPN domain containing isoform 1		G	THR/ALA,THR/ALA	17,4019		0,17,2001	22.0	24.0	23.0		943,1093	-4.9	0.0	19	dbSNP_129	23	1,8365		0,1,4182	yes	missense,missense	MPND	NM_001159846.1,NM_032868.4	58,58	0,18,6183	AA,AG,GG		0.012,0.4212,0.1451	benign,benign	315/452,365/472	4357346	18,12384	2018	4183	6201	SO:0001583	missense	84954						peptidase activity	g.chr19:4357346G>A		CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.1093G>A	19.37:g.4357346G>A	ENSP00000262966:p.Ala365Thr					MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.A315T|MPND_uc002maf.2_Missense_Mutation_p.A365T|MPND_uc002mah.2_Missense_Mutation_p.A253T|MPND_uc002mai.2_Missense_Mutation_p.A224T	p.A365T	NM_032868	NP_116257	Q8N594	MPND_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1160	+			365			MPN.		Q96SJ0|Q9Y2P1|Q9Y2P2	Missense_Mutation	SNP	ENST00000262966.8	37	c.1093G>A	CCDS42470.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	N	0.170	-1.072349	0.01918	0.004212	1.2E-4	ENSG00000008382	ENST00000262966;ENST00000359935	T;T	0.43294	0.95;0.95	3.67	-4.9	0.03094	.	0.547987	0.18785	N	0.131202	T	0.11196	0.0273	N	0.04669	-0.19	0.09310	N	1	B;B;B	0.29188	0.236;0.137;0.147	B;B;B	0.22753	0.016;0.041;0.029	T	0.36040	-0.9764	10	0.05833	T	0.94	-2.8931	4.9433	0.13976	0.4547:0.0:0.4064:0.1388	.	315;365;365	Q8N594-2;A6NI36;Q8N594	.;.;MPND_HUMAN	T	365;315	ENSP00000262966:A365T;ENSP00000353015:A315T	ENSP00000262966:A365T	A	+	1	0	MPND	4308346	0.014000	0.17966	0.006000	0.13384	0.254000	0.26022	0.231000	0.17872	-0.982000	0.03515	-0.448000	0.05591	GCA		0.672	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458292.1	NM_032868		9	41	0	0	0	0	9	41				
RFX1	5989	broad.mit.edu	37	19	14079491	14079491	+	Splice_Site	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:14079491G>T	ENST00000254325.4	-	12	1852	c.1618C>A	c.(1618-1620)Ctc>Atc	p.L540I		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	540					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			ATGGGCTTGAGCCTGGAGTAG	0.692																																						uc002mxv.2		NA																	0				lung(1)|pancreas(1)	2						c.(1618-1620)CTC>ATC		regulatory factor X1							44.0	46.0	45.0					19																	14079491		2202	4299	6501	SO:0001630	splice_region_variant	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14079491G>T		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1617-1C>A	19.37:g.14079491G>T							p.L540I	NM_002918	NP_002909	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		12	1890	-			540						Missense_Mutation	SNP	ENST00000254325.4	37	c.1618C>A	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357286	0.41801	.	.	ENSG00000132005	ENST00000254325	T	0.60424	0.19	5.33	5.33	0.75918	.	0.108718	0.49305	D	0.000157	T	0.45716	0.1356	L	0.34521	1.04	0.45995	D	0.998808	B	0.31968	0.349	B	0.22152	0.038	T	0.37220	-0.9715	10	0.25751	T	0.34	-29.0415	17.7795	0.88519	0.0:0.0:1.0:0.0	.	540	P22670	RFX1_HUMAN	I	540	ENSP00000254325:L540I	ENSP00000254325:L540I	L	-	1	0	RFX1	13940491	0.989000	0.36119	1.000000	0.80357	0.793000	0.44817	0.724000	0.25954	2.503000	0.84419	0.561000	0.74099	CTC		0.692	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918	Missense_Mutation	6	52	1	0	2.77e-08	3.22e-08	6	52				
MED26	9441	broad.mit.edu	37	19	16687957	16687957	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:16687957C>T	ENST00000263390.3	-	3	946	c.684G>A	c.(682-684)ccG>ccA	p.P228P	CTC-429P9.4_ENST00000593962.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Silent_p.P236P	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	228	Pro-rich.				gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						AGCTGGTGTGCGGTCGCACGG	0.682																																						uc002nen.1		NA																	0				ovary(2)	2						c.(682-684)CCG>CCA		mediator complex subunit 26							36.0	40.0	39.0					19																	16687957		2203	4300	6503	SO:0001819	synonymous_variant	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16687957C>T	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.684G>A	19.37:g.16687957C>T						MED26_uc002nee.2_RNA	p.P228P	NM_004831	NP_004822	O95402	MED26_HUMAN			3	945	-			228			Pro-rich.		A1A4S3|Q0VGB6	Silent	SNP	ENST00000263390.3	37	c.684G>A	CCDS12347.1																																																																																				0.682	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		8	113	0	0	0	0	8	113				
LSR	51599	broad.mit.edu	37	19	35758624	35758624	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:35758624G>A	ENST00000361790.3	+	9	2060	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H	LSR_ENST00000427250.1_Missense_Mutation_p.R478H|AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000354900.3_Missense_Mutation_p.R615H|LSR_ENST00000602122.1_Missense_Mutation_p.R614H|LSR_ENST00000347609.4_Missense_Mutation_p.R576H|USF2_ENST00000594064.1_5'Flank|USF2_ENST00000343550.5_5'Flank|USF2_ENST00000222305.3_5'Flank|USF2_ENST00000595068.1_5'Flank|USF2_ENST00000379134.3_5'Flank|LSR_ENST00000360798.3_Missense_Mutation_p.R566H	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	634					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCCCGAGAGCGCAGGCTCAAG	0.692																																						uc002nyl.2		NA																	0					0						c.(1900-1902)CGC>CAC		lipolysis stimulated lipoprotein receptor							47.0	56.0	53.0					19																	35758624		2201	4298	6499	SO:0001583	missense	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35758624G>A	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1901G>A	19.37:g.35758624G>A	ENSP00000354575:p.Arg634His					LSR_uc002nym.2_Missense_Mutation_p.R615H|LSR_uc002nyn.2_Missense_Mutation_p.R566H|LSR_uc002nyo.2_Missense_Mutation_p.R614H|LSR_uc010xsr.1_Missense_Mutation_p.R526H|LSR_uc002nyp.2_Missense_Mutation_p.R576H|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank	p.R634H	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		9	2124	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		634			Cytoplasmic (Potential).		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.1901G>A	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560953	0.65538	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609;ENST00000427250	T;T;T;T;T	0.66099	0.42;0.58;0.23;0.28;-0.19	4.9	3.78	0.43462	.	0.322034	0.30285	N	0.009967	T	0.62233	0.2411	N	0.24115	0.695	0.25088	N	0.990878	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999;0.999	D;D;D;D;D;D	0.83275	0.987;0.927;0.994;0.996;0.987;0.987	T	0.51718	-0.8670	10	0.72032	D	0.01	-21.1728	6.4299	0.21790	0.0987:0.1867:0.7146:0.0	.	573;576;614;566;615;634	Q9BT33;Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;.;LSR_HUMAN	H	634;615;566;576;478	ENSP00000354575:R634H;ENSP00000346976:R615H;ENSP00000354034:R566H;ENSP00000262627:R576H;ENSP00000394479:R478H	ENSP00000262627:R576H	R	+	2	0	LSR	40450464	0.990000	0.36364	0.996000	0.52242	0.263000	0.26337	1.999000	0.40806	2.441000	0.82636	0.485000	0.47835	CGC		0.692	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		4	151	0	0	0	0	4	151				
SUPT5H	6829	broad.mit.edu	37	19	39964120	39964120	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:39964120G>C	ENST00000599117.1	+	26	2818	c.2451G>C	c.(2449-2451)caG>caC	p.Q817H	SUPT5H_ENST00000359191.6_Missense_Mutation_p.Q813H|SUPT5H_ENST00000598725.1_Missense_Mutation_p.Q817H|SUPT5H_ENST00000402194.2_Missense_Mutation_p.Q813H|SUPT5H_ENST00000432763.2_Missense_Mutation_p.Q817H			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	817	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTCCTGCCCAGAGTGGGGCCT	0.632																																						uc002olo.3		NA																	0				ovary(3)|pancreas(1)	4						c.(2449-2451)CAG>CAC		suppressor of Ty 5 homolog isoform a							71.0	70.0	70.0					19																	39964120		2203	4300	6503	SO:0001583	missense	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39964120G>C	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2451G>C	19.37:g.39964120G>C	ENSP00000470252:p.Gln817His					SUPT5H_uc002olp.3_Missense_Mutation_p.Q817H|SUPT5H_uc002olq.3_Missense_Mutation_p.Q813H|SUPT5H_uc002oln.3_Missense_Mutation_p.Q817H|SUPT5H_uc002olr.3_Missense_Mutation_p.Q817H|SUPT5H_uc002ols.1_Missense_Mutation_p.Q440H|SUPT5H_uc010egp.1_3'UTR	p.Q817H	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		25	2630	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		817			CTR1-9.|9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.		O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	c.2451G>C	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301727	0.23736	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.64	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	N	0.25890	0.77	0.80722	D	1	B;B;B	0.17852	0.001;0.019;0.024	B;B;B	0.21708	0.004;0.026;0.036	T	0.25328	-1.0135	8	.	.	.	-18.9302	11.9585	0.52995	0.0888:0.0:0.9112:0.0	.	609;813;817	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	H	817;813;795;817	.	.	Q	+	3	2	SUPT5H	44655960	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.283000	0.65621	2.136000	0.66102	0.462000	0.41574	CAG		0.632	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		13	107	0	0	0	0	13	107				
RPS19	6223	broad.mit.edu	37	19	42373230	42373230	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:42373230G>A	ENST00000598742.1	+	4	674	c.302G>A	c.(301-303)cGc>cAc	p.R101H	RPS19_ENST00000593863.1_Missense_Mutation_p.R101H|RPS19_ENST00000221975.2_Missense_Mutation_p.R27H	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	101			R -> H (in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit). {ECO:0000269|PubMed:10590074, ECO:0000269|PubMed:15384984}.		cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|monocyte chemotaxis (GO:0002548)|mRNA metabolic process (GO:0016071)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleolus organization (GO:0007000)|positive regulation of cellular component movement (GO:0051272)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|protein tetramerization (GO:0051262)|response to extracellular stimulus (GO:0009991)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|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)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						AGTGTGGCCCGCCGGGTCCTC	0.617									Diamond-Blackfan Anemia																													uc002ort.2		NA																	0					0	GRCh37	CM993208	RPS19	M		c.(301-303)CGC>CAC		ribosomal protein S19							30.0	34.0	32.0					19																	42373230		2202	4300	6502	SO:0001583	missense	6223	Diamond-Blackfan_Anemia	Familial Cancer Database	DBA, Congenital Hypoplastic Anemia, Blackfan-Diamond Anemia, incl.: Aase syndrome	endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr19:42373230G>A	BC000023	CCDS12588.1	19q13.2	2011-04-05				ENSG00000105372		"""S ribosomal proteins"""	10402	protein-coding gene	gene with protein product	"""Diamond-Blackfan anemia"""	603474				9582194	Standard	NM_001022		Approved	DBA, S19	uc002ort.3	P39019		ENST00000598742.1:c.302G>A	19.37:g.42373230G>A	ENSP00000470972:p.Arg101His						p.R101H	NM_001022	NP_001013	P39019	RS19_HUMAN			4	674	+			101		R -> H (in DBA1; increased protein degradation; affects assembly into a functional ribosomal subunit).				Missense_Mutation	SNP	ENST00000598742.1	37	c.302G>A	CCDS12588.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508965	0.44660	.	.	ENSG00000105372	ENST00000221975	.	.	.	4.3	4.3	0.51218	Ribosomal protein S19e, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.54078	0.1836	M	0.70903	2.155	0.80722	D	1	P	0.36974	0.576	B	0.29077	0.098	T	0.64054	-0.6497	9	0.59425	D	0.04	6.0E-4	15.0706	0.72034	0.0:0.0:1.0:0.0	.	101	P39019	RS19_HUMAN	H	101	.	ENSP00000221975:R101H	R	+	2	0	RPS19	47065070	1.000000	0.71417	0.987000	0.45799	0.080000	0.17528	6.749000	0.74883	2.334000	0.79466	0.462000	0.41574	CGC		0.617	RPS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463049.1	NM_001022		6	59	0	0	0	0	6	59				
ZNF574	64763	broad.mit.edu	37	19	42583864	42583864	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:42583864G>T	ENST00000600245.1	+	2	1761	c.1106G>T	c.(1105-1107)tGt>tTt	p.C369F	ZNF574_ENST00000222339.7_Missense_Mutation_p.C459F|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.C369F			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C369Y(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				TGTGTAGACTGTGGCCTGGCC	0.592																																						uc002osm.3		NA																	1	Substitution - Missense(1)		stomach(1)		0						c.(1105-1107)TGT>TTT		zinc finger protein 574							73.0	69.0	70.0					19																	42583864		2203	4300	6503	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42583864G>T	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1106G>T	19.37:g.42583864G>T	ENSP00000469029:p.Cys369Phe					ZNF574_uc002osk.3_Missense_Mutation_p.C459F	p.C369F	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN			2	1275	+		Prostate(69;0.059)	369			C2H2-type 7.		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.1106G>T	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	g	17.60	3.429679	0.62844	.	.	ENSG00000105732	ENST00000222339;ENST00000359044	T;T	0.58358	0.34;0.34	4.7	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.82779	0.5111	H	0.97983	4.12	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89580	0.3820	10	0.87932	D	0	-8.7843	16.5824	0.84717	0.0:0.0:1.0:0.0	.	369;458	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	F	459;369	ENSP00000222339:C459F;ENSP00000351939:C369F	ENSP00000222339:C459F	C	+	2	0	ZNF574	47275704	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.106000	0.94253	2.434000	0.82447	0.645000	0.84053	TGT		0.592	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		8	96	1	0	0.000274275	0.000302406	8	96				
PSG4	5672	broad.mit.edu	37	19	43699348	43699348	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:43699348C>T	ENST00000405312.3	-	4	1024	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.E170K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	263	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTCTTAGGTTCACAGGTGAAG	0.453																																						uc002ovy.2		NA																	0				ovary(1)	1						c.(787-789)GAA>AAA		pregnancy specific beta-1-glycoprotein 4 isoform							210.0	229.0	223.0					19																	43699348		2202	4295	6497	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43699348C>T		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.787G>A	19.37:g.43699348C>T	ENSP00000384770:p.Glu263Lys					PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Missense_Mutation_p.E170K|PSG4_uc002ovz.2_Intron	p.E263K	NM_002780	NP_002771	Q00888	PSG4_HUMAN			4	889	-		Prostate(69;0.00682)	263			Ig-like C2-type 2.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.787G>A	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	c	13.13	2.145179	0.37825	.	.	ENSG00000243137	ENST00000405312;ENST00000433626	T;T	0.12255	2.7;2.7	1.49	-1.76	0.08006	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23766	0.0575	M	0.67625	2.065	0.09310	N	1	P;D	0.54207	0.899;0.965	D;P	0.63283	0.913;0.854	T	0.15838	-1.0423	9	0.52906	T	0.07	.	1.7428	0.02955	0.3266:0.4252:0.0:0.2482	.	170;263	E7EX79;Q00888	.;PSG4_HUMAN	K	263;170	ENSP00000384770:E263K;ENSP00000387864:E170K	ENSP00000384770:E263K	E	-	1	0	PSG4	48391188	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	-0.798000	0.04565	-0.030000	0.13804	0.524000	0.50904	GAA		0.453	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		39	416	0	0	0	0	39	416				
ERCC2	2068	broad.mit.edu	37	19	45860923	45860923	+	Silent	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:45860923T>C	ENST00000391945.4	-	13	1349	c.1272A>G	c.(1270-1272)agA>agG	p.R424R	ERCC2_ENST00000391944.3_Silent_p.R346R	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	424					7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGGTCGGGGTTCTGTCGTCAA	0.637			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NA	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(2)|pancreas(1)	3						c.(1270-1272)AGA>AGG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							141.0	131.0	134.0					19																	45860923		2203	4300	6503	SO:0001819	synonymous_variant	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45860923T>C		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1272A>G	19.37:g.45860923T>C						ERCC2_uc002pbh.2_5'UTR|ERCC2_uc002pbi.2_Silent_p.R117R|ERCC2_uc010ejz.2_Silent_p.R346R|ERCC2_uc002pbk.2_Silent_p.R400R	p.R424R	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	13	1319	-		Ovarian(192;0.0728)|all_neural(266;0.112)	424					Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Silent	SNP	ENST00000391945.4	37	c.1272A>G	CCDS33049.1																																																																																				0.637	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2	NM_000400		8	65	0	0	0	0	8	65				
ZC3H4	23211	broad.mit.edu	37	19	47588318	47588318	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:47588318T>C	ENST00000253048.5	-	8	1139	c.1102A>G	c.(1102-1104)Atg>Gtg	p.M368V	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	368	Gly-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CTCACGCCCATGTCCTCGTCA	0.532																																						uc002pga.3		NA																	0				skin(4)|ovary(2)	6						c.(1102-1104)ATG>GTG		zinc finger CCCH-type containing 4							285.0	301.0	296.0					19																	47588318		2136	4229	6365	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47588318T>C	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1102A>G	19.37:g.47588318T>C	ENSP00000253048:p.Met368Val					ZC3H4_uc002pgb.1_Intron	p.M368V	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	8	1140	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	368			Gly-rich.		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.1102A>G	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.704340	0.48412	.	.	ENSG00000130749	ENST00000253048	T	0.17370	2.28	5.86	4.85	0.62838	.	0.447210	0.27531	N	0.018956	T	0.17023	0.0409	L	0.52573	1.65	0.36731	D	0.881733	B	0.06786	0.001	B	0.08055	0.003	T	0.05289	-1.0894	10	0.56958	D	0.05	.	9.7821	0.40653	0.0:0.0794:0.0:0.9206	.	368	Q9UPT8	ZC3H4_HUMAN	V	368	ENSP00000253048:M368V	ENSP00000253048:M368V	M	-	1	0	ZC3H4	52280158	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.883000	0.48554	1.034000	0.39945	0.459000	0.35465	ATG		0.532	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			56	331	0	0	0	0	56	331				
RASIP1	54922	broad.mit.edu	37	19	49224087	49224087	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:49224087G>A	ENST00000222145.4	-	12	3064	c.2860C>T	c.(2860-2862)Cgc>Tgc	p.R954C	MAMSTR_ENST00000377367.3_5'Flank|MAMSTR_ENST00000318083.6_5'Flank|MAMSTR_ENST00000419611.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	954					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)		GGCCCATGGCGATAATTGGCT	0.612																																						uc002pki.2		NA																	0				pancreas(1)	1						c.(2860-2862)CGC>TGC		Ras-interacting protein 1							91.0	95.0	94.0					19																	49224087		2203	4300	6503	SO:0001583	missense	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49224087G>A	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.2860C>T	19.37:g.49224087G>A	ENSP00000222145:p.Arg954Cys					MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.2_Missense_Mutation_p.R215C	p.R954C	NM_017805	NP_060275	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)	12	3057	-		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)	954					Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	c.2860C>T	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005256	0.93287	.	.	ENSG00000105538	ENST00000222145	T	0.30981	1.51	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.42268	0.1195	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	P	0.56474	0.799	T	0.17501	-1.0367	10	0.62326	D	0.03	-14.1256	15.2701	0.73693	0.0:0.0:1.0:0.0	.	954	Q5U651	RAIN_HUMAN	C	954	ENSP00000222145:R954C	ENSP00000222145:R954C	R	-	1	0	RASIP1	53915899	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	5.278000	0.65592	2.771000	0.95319	0.655000	0.94253	CGC		0.612	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		12	246	0	0	0	0	12	246				
ZNF473	25888	broad.mit.edu	37	19	50549541	50549541	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:50549541C>G	ENST00000595661.1	+	6	2336	c.1841C>G	c.(1840-1842)tCt>tGt	p.S614C	CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.S614C|ZNF473_ENST00000270617.3_Missense_Mutation_p.S614C|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.S602C			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	614					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGAATCCACTCTAGAGTGAGG	0.488																																						uc002prn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1840-1842)TCT>TGT		zinc finger protein 473							74.0	68.0	70.0					19																	50549541		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549541C>G	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.1841C>G	19.37:g.50549541C>G	ENSP00000472808:p.Ser614Cys					ZNF473_uc002prm.2_Missense_Mutation_p.S614C|ZNF473_uc010ybo.1_Missense_Mutation_p.S602C	p.S614C	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	5	2078	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	614					A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.1841C>G	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216935	0.39201	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.09163	3.02;3.02;3.01	4.45	3.39	0.38822	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.172440	0.28296	N	0.015876	T	0.17789	0.0427	M	0.87097	2.86	0.23906	N	0.996508	B	0.28055	0.199	B	0.23716	0.048	T	0.15636	-1.0430	10	0.87932	D	0	-3.9305	11.0983	0.48160	0.0:0.6361:0.3639:0.0	.	614	Q8WTR7	ZN473_HUMAN	C	614;614;602	ENSP00000270617:S614C;ENSP00000375697:S614C;ENSP00000388961:S602C	ENSP00000270617:S614C	S	+	2	0	ZNF473	55241353	0.000000	0.05858	0.040000	0.18447	0.206000	0.24218	0.836000	0.27545	1.436000	0.47453	0.609000	0.83330	TCT		0.488	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		7	74	0	0	0	0	7	74				
ZFP28	140612	broad.mit.edu	37	19	57065936	57065936	+	Silent	SNP	C	C	T	rs61734808	byFrequency	TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:57065936C>T	ENST00000301318.3	+	8	1853	c.1782C>T	c.(1780-1782)tgC>tgT	p.C594C	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	594					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GTAAAGAGTGCGGAAAAGCTT	0.413													C|||	4	0.000798722	0.0	0.0	5008	,	,		21609	0.0		0.004	False		,,,				2504	0.0				Ovarian(124;554 1662 19430 21141 52494)	uc002qnj.2		NA																	0				ovary(1)	1						c.(1780-1782)TGC>TGT		zinc finger protein 28		C		2,4404	4.2+/-10.8	0,2,2201	89.0	96.0	94.0		1782	-2.0	0.9	19	dbSNP_129	94	19,8581	14.0+/-48.4	0,19,4281	no	coding-synonymous	ZFP28	NM_020828.1		0,21,6482	TT,TC,CC		0.2209,0.0454,0.1615		594/869	57065936	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57065936C>T		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1782C>T	19.37:g.57065936C>T						uc002qnk.1_Intron	p.C594C	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	1853	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	594			C2H2-type 7.		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	SNP	ENST00000301318.3	37	c.1782C>T	CCDS12946.1																																																																																				0.413	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		4	238	0	0	0	0	4	238				
ZNF606	80095	broad.mit.edu	37	19	58489924	58489924	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:58489924G>A	ENST00000341164.4	-	7	2744	c.2124C>T	c.(2122-2124)taC>taT	p.Y708Y	ZNF606_ENST00000536132.1_Silent_p.Y618Y	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	708					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CATTACACCTGTATGGTTTCT	0.393																																						uc002qqw.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2122-2124)TAC>TAT		zinc finger protein 606							109.0	110.0	110.0					19																	58489924		2203	4300	6503	SO:0001819	synonymous_variant	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58489924G>A	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.2124C>T	19.37:g.58489924G>A						ZNF606_uc010yhp.1_Silent_p.Y618Y	p.Y708Y	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	2742	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	708			C2H2-type 14.		A8KAN2|Q8NE04|Q96JH5	Silent	SNP	ENST00000341164.4	37	c.2124C>T	CCDS12968.1																																																																																				0.393	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		23	147	0	0	0	0	23	147				
ZNF329	79673	broad.mit.edu	37	19	58639690	58639690	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:58639690G>A	ENST00000598312.1	-	4	1414	c.1181C>T	c.(1180-1182)tCt>tTt	p.S394F	ZNF329_ENST00000358067.4_Missense_Mutation_p.S394F	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	394					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)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TTTCTCCCCAGAATGGATCTT	0.468																																						uc002qrn.2		NA																	0				skin(1)	1						c.(1180-1182)TCT>TTT		zinc finger protein 329							77.0	72.0	74.0					19																	58639690		2203	4300	6503	SO:0001583	missense	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639690G>A	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1181C>T	19.37:g.58639690G>A	ENSP00000470008:p.Ser394Phe					ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	p.S394F	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1418	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	394					B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	c.1181C>T	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414978	0.42817	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.19806	2.12;2.12	4.31	4.31	0.51392	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37906	N	0.001881	T	0.33876	0.0878	L	0.41824	1.3	0.47949	D	0.999552	D	0.54397	0.966	P	0.58331	0.837	T	0.07424	-1.0773	10	0.87932	D	0	-14.5328	16.7502	0.85483	0.0:0.0:1.0:0.0	.	394	Q86UD4	ZN329_HUMAN	F	394	ENSP00000350773:S394F;ENSP00000439527:S394F	ENSP00000350773:S394F	S	-	2	0	ZNF329	63331502	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.705000	0.54823	2.691000	0.91804	0.655000	0.94253	TCT		0.468	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1	NM_024620		18	177	0	0	0	0	18	177				
ZSCAN22	342945	broad.mit.edu	37	19	58849700	58849700	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:58849700G>C	ENST00000329665.4	+	3	631	c.484G>C	c.(484-486)Gag>Cag	p.E162Q		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	162					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(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		AAATGTCACTGAGACCCTCAT	0.567																																						uc002qsc.2		NA																	0				pancreas(1)	1						c.(484-486)GAG>CAG		zinc finger and SCAN domain containing 22							87.0	80.0	82.0					19																	58849700		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58849700G>C	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.484G>C	19.37:g.58849700G>C	ENSP00000332433:p.Glu162Gln					ZSCAN22_uc010yhz.1_Silent_p.L156L	p.E162Q	NM_181846	NP_862829	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	631	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	162					Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.484G>C	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.641090	0.29157	.	.	ENSG00000182318	ENST00000329665	T	0.08370	3.1	4.02	2.96	0.34315	.	.	.	.	.	T	0.05640	0.0148	N	0.19112	0.55	0.09310	N	1	B	0.25235	0.121	B	0.21546	0.035	T	0.41875	-0.9484	9	0.22109	T	0.4	.	9.3692	0.38244	0.0:0.2189:0.7811:0.0	.	162	P10073	ZSC22_HUMAN	Q	162	ENSP00000332433:E162Q	ENSP00000332433:E162Q	E	+	1	0	ZSCAN22	63541512	0.061000	0.20836	0.007000	0.13788	0.943000	0.58893	2.436000	0.44819	0.866000	0.35629	0.313000	0.20887	GAG		0.567	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		13	141	0	0	0	0	13	141				
ADCY3	109	broad.mit.edu	37	2	25062774	25062774	+	Silent	SNP	T	T	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:25062774T>A	ENST00000260600.5	-	6	2174	c.1323A>T	c.(1321-1323)gtA>gtT	p.V441V	ADCY3_ENST00000405392.1_Silent_p.V52V	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	441					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCTTGTTGGCTACAGTGACAT	0.672																																						uc002rfs.3		NA																	0				breast(3)|ovary(1)	4						c.(1321-1323)GTA>GTT		adenylate cyclase 3							120.0	101.0	108.0					2																	25062774		2203	4300	6503	SO:0001819	synonymous_variant	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25062774T>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1323A>T	2.37:g.25062774T>A						ADCY3_uc002rfr.3_Silent_p.V52V|ADCY3_uc010ykm.1_Silent_p.V441V	p.V441V	NM_004036	NP_004027	O60266	ADCY3_HUMAN			6	1522	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		441			Cytoplasmic (Potential).		B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	37	c.1323A>T	CCDS1715.1																																																																																				0.672	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			26	152	0	0	0	0	26	152				
EMILIN1	11117	broad.mit.edu	37	2	27306220	27306220	+	Missense_Mutation	SNP	G	G	A	rs200339477		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:27306220G>A	ENST00000380320.4	+	4	2280	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	594					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAACTAGGCCGCCTTCGGGAT	0.697																																						uc002rii.3		NA																	0				pancreas(1)	1						c.(1780-1782)CGC>CAC		elastin microfibril interfacer 1 precursor		G	HIS/ARG	1,4375		0,1,2187	32.0	39.0	37.0		1781	3.6	1.0	2		37	2,8576		0,2,4287	yes	missense	EMILIN1	NM_007046.3	29	0,3,6474	AA,AG,GG		0.0233,0.0229,0.0232	probably-damaging	594/1017	27306220	3,12951	2188	4289	6477	SO:0001583	missense	11117				cell adhesion	collagen		g.chr2:27306220G>A	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.1781G>A	2.37:g.27306220G>A	ENSP00000369677:p.Arg594His					EMILIN1_uc002rik.3_5'Flank	p.R594H	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN			4	2209	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		594			Potential.		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	c.1781G>A	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551178	0.65311	2.29E-4	2.33E-4	ENSG00000138080	ENST00000380320	T	0.65732	-0.17	4.5	3.6	0.41247	.	0.143807	0.30850	N	0.008750	T	0.52125	0.1715	N	0.19112	0.55	0.32851	D	0.506627	D	0.65815	0.995	P	0.53146	0.719	T	0.56968	-0.7891	10	0.25106	T	0.35	-14.5474	8.5464	0.33424	0.1081:0.0:0.8919:0.0	.	594	Q9Y6C2	EMIL1_HUMAN	H	594	ENSP00000369677:R594H	ENSP00000369677:R594H	R	+	2	0	EMILIN1	27159724	0.989000	0.36119	1.000000	0.80357	0.990000	0.78478	2.276000	0.43408	2.338000	0.79540	0.561000	0.74099	CGC		0.697	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		19	97	0	0	0	0	19	97				
CNGA3	1261	broad.mit.edu	37	2	99012566	99012566	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:99012566C>T	ENST00000272602.2	+	7	972	c.933C>T	c.(931-933)ctC>ctT	p.L311L	CNGA3_ENST00000409937.1_Silent_p.L315L|CNGA3_ENST00000393504.1_Silent_p.L311L|CNGA3_ENST00000436404.2_Silent_p.L293L			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	311					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGTACATTCTCATCATCATCC	0.458																																						uc002syt.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(931-933)CTC>CTT		cyclic nucleotide gated channel alpha 3 isoform							116.0	117.0	117.0					2																	99012566		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99012566C>T	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.933C>T	2.37:g.99012566C>T						CNGA3_uc002syu.2_Silent_p.L293L|CNGA3_uc010fij.2_Silent_p.L315L	p.L311L	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			8	1350	+			311			Helical; (Potential).		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.933C>T	CCDS2034.1																																																																																				0.458	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		17	175	0	0	0	0	17	175				
AFF3	3899	broad.mit.edu	37	2	100623856	100623856	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:100623856C>G	ENST00000409236.2	-	4	353	c.241G>C	c.(241-243)Gac>Cac	p.D81H	AFF3_ENST00000409579.1_Missense_Mutation_p.D106H|AFF3_ENST00000356421.2_Missense_Mutation_p.D106H|AFF3_ENST00000317233.4_Missense_Mutation_p.D81H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	81					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GTTAAAAAGTCTTTCATTTCA	0.418																																						uc002tag.2		NA																	0				ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(241-243)GAC>CAC		AF4/FMR2 family, member 3 isoform 1							87.0	91.0	89.0					2																	100623856		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100623856C>G	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.241G>C	2.37:g.100623856C>G	ENSP00000387207:p.Asp81His					AFF3_uc002taf.2_Missense_Mutation_p.D106H|AFF3_uc010fiq.1_Missense_Mutation_p.D81H|AFF3_uc010yvr.1_Missense_Mutation_p.D235H|AFF3_uc002tah.1_Missense_Mutation_p.D106H|AFF3_uc010fir.1_Missense_Mutation_p.D158H|AFF3_uc002tai.2_Missense_Mutation_p.D3H	p.D81H	NM_002285	NP_002276	P51826	AFF3_HUMAN			5	477	-			81					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.241G>C	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625349	0.87560	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288;ENST00000432037;ENST00000423966;ENST00000441400;ENST00000424600;ENST00000416492	T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.51	5.51	0.81932	.	0.131649	0.49916	D	0.000125	T	0.81009	0.4734	M	0.61703	1.905	0.53005	D	0.999967	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79784	0.993;0.988;0.987;0.99;0.977	T	0.82289	-0.0531	10	0.87932	D	0	.	19.4109	0.94671	0.0:1.0:0.0:0.0	.	235;235;81;81;106	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	H	81;106;106;81;81;235;106;81;81;81;81;81	ENSP00000317421:D81H;ENSP00000348793:D106H;ENSP00000386834:D106H;ENSP00000387207:D81H;ENSP00000406484:D81H;ENSP00000396582:D81H;ENSP00000399795:D81H;ENSP00000411383:D81H;ENSP00000395068:D81H	ENSP00000317421:D81H	D	-	1	0	AFF3	99990288	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.635000	0.83286	2.579000	0.87056	0.585000	0.79938	GAC		0.418	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		32	161	0	0	0	0	32	161				
SCN9A	6335	broad.mit.edu	37	2	167055509	167055509	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:167055509G>C	ENST00000409435.1	-	26	5639	c.5640C>G	c.(5638-5640)atC>atG	p.I1880M	SCN9A_ENST00000375387.4_Missense_Mutation_p.I1881M|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.I1869M|SCN9A_ENST00000303354.6_Missense_Mutation_p.I1881M			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1880					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTGTGGTTGTGATGGGTTCAT	0.428																																						uc010fpl.2		NA																	0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.(5605-5607)ATC>ATG		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						179.0	195.0	190.0					2																	167055509		2203	4300	6503	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055509G>C	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5640C>G	2.37:g.167055509G>C	ENSP00000386330:p.Ile1880Met					uc002udp.2_Intron	p.I1869M	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			27	5948	-			1880					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.5607C>G	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598238	0.46318	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96856	-4.12;-4.15;-4.15;-4.15	6.17	0.881	0.19166	.	0.000000	0.64402	D	0.000002	D	0.97914	0.9314	M	0.93375	3.41	0.43471	D	0.995683	D	0.89917	1.0	D	0.76575	0.988	D	0.96298	0.9219	10	0.87932	D	0	.	5.9834	0.19419	0.406:0.0:0.467:0.127	.	1869	E7EUN6	.	M	1869;1881;1881;1880	ENSP00000386306:I1869M;ENSP00000364536:I1881M;ENSP00000304748:I1881M;ENSP00000386330:I1880M	ENSP00000304748:I1881M	I	-	3	3	SCN9A	166763755	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	0.954000	0.29175	0.366000	0.24427	-0.137000	0.14449	ATC		0.428	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		29	177	0	0	0	0	29	177				
LRP2	4036	broad.mit.edu	37	2	170042510	170042510	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:170042510G>T	ENST00000263816.3	-	50	9633	c.9348C>A	c.(9346-9348)gaC>gaA	p.D3116E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3116	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGATTGAAGGGTCATGGCATT	0.418																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(9346-9348)GAC>GAA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						59.0	59.0	59.0					2																	170042510		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170042510G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9348C>A	2.37:g.170042510G>T	ENSP00000263816:p.Asp3116Glu						p.D3116E	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	50	9561	-			3116			EGF-like 11.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.9348C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	3.006	-0.204926	0.06180	.	.	ENSG00000081479	ENST00000263816	T	0.77620	-1.11	5.88	-0.189	0.13260	Growth factor, receptor (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.044947	0.85682	D	0.000000	T	0.56863	0.2014	L	0.28694	0.88	0.80722	D	1	B	0.09022	0.002	B	0.16722	0.016	T	0.39781	-0.9597	10	0.06891	T	0.86	.	6.2436	0.20805	0.3083:0.0:0.5776:0.114	.	3116	P98164	LRP2_HUMAN	E	3116	ENSP00000263816:D3116E	ENSP00000263816:D3116E	D	-	3	2	LRP2	169750756	1.000000	0.71417	0.001000	0.08648	0.126000	0.20510	1.988000	0.40697	-0.342000	0.08363	-0.137000	0.14449	GAC		0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		19	76	1	0	2.39e-15	2.89e-15	19	76				
FASTKD1	79675	broad.mit.edu	37	2	170403114	170403114	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:170403114T>A	ENST00000453153.2	-	8	1661	c.1315A>T	c.(1315-1317)Att>Ttt	p.I439F	FASTKD1_ENST00000453929.2_Missense_Mutation_p.I439F	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	439					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						ACGGCTTCAATTCGGGATATC	0.408																																						uc002uev.3		NA																	0				ovary(4)	4						c.(1315-1317)ATT>TTT		FAST kinase domains 1							66.0	69.0	68.0					2																	170403114		2203	4300	6503	SO:0001583	missense	79675				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:170403114T>A	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.1315A>T	2.37:g.170403114T>A	ENSP00000400513:p.Ile439Phe					FASTKD1_uc002uew.3_RNA|FASTKD1_uc002uex.3_Missense_Mutation_p.I425F	p.I439F	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN			8	1703	-			439					Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	37	c.1315A>T	CCDS33318.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509894	0.64522	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.23348	1.91;1.92	4.44	0.821	0.18799	.	0.458728	0.24256	N	0.040139	T	0.32912	0.0845	M	0.67953	2.075	0.27216	N	0.959792	P;P	0.50272	0.933;0.89	P;P	0.51385	0.668;0.467	T	0.11842	-1.0571	10	0.48119	T	0.1	-18.6467	8.013	0.30363	0.0:0.3657:0.0:0.6343	.	439;439	Q53R41-2;Q53R41	.;FAKD1_HUMAN	F	439	ENSP00000400513:I439F;ENSP00000403229:I439F	ENSP00000400513:I439F	I	-	1	0	FASTKD1	170111360	0.601000	0.26907	0.370000	0.25965	0.938000	0.57974	1.426000	0.34870	0.326000	0.23384	0.460000	0.39030	ATT		0.408	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	NM_024622		13	105	0	0	0	0	13	105				
ANKAR	150709	broad.mit.edu	37	2	190608094	190608094	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:190608094C>G	ENST00000520309.1	+	21	3992	c.3904C>G	c.(3904-3906)Cag>Gag	p.Q1302E	ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.Q1231E|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000313581.4_Missense_Mutation_p.Q1302E	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1302						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TAAACCTAATCAGTTCATTCG	0.368																																						uc002uqw.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(3691-3693)CAG>GAG		ankyrin and armadillo repeat containing							84.0	80.0	82.0					2																	190608094		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190608094C>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3904C>G	2.37:g.190608094C>G	ENSP00000427882:p.Gln1302Glu					ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_Intron	p.Q1231E	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		20	3691	+			1302					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.3691C>G	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	16.57	3.161080	0.57368	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000431575	T;T;T	0.24723	1.84;1.84;1.84	5.05	5.05	0.67936	.	0.414201	0.21631	N	0.071495	T	0.40247	0.1109	L	0.57536	1.79	0.80722	D	1	.	.	.	.	.	.	T	0.20538	-1.0272	8	0.72032	D	0.01	-11.0932	12.8383	0.57786	0.0:0.9191:0.0:0.0809	.	.	.	.	E	1302;1302;1231	ENSP00000427882:Q1302E;ENSP00000313513:Q1302E;ENSP00000393043:Q1231E	ENSP00000313513:Q1302E	Q	+	1	0	ANKAR	190316339	0.988000	0.35896	1.000000	0.80357	0.924000	0.55760	2.902000	0.48703	2.324000	0.78689	0.557000	0.71058	CAG		0.368	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		12	78	0	0	0	0	12	78				
PIKFYVE	200576	broad.mit.edu	37	2	209138378	209138378	+	Silent	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:209138378G>T	ENST00000264380.4	+	3	401	c.243G>T	c.(241-243)tcG>tcT	p.S81S	PIKFYVE_ENST00000392202.3_Silent_p.S81S|PIKFYVE_ENST00000407449.1_Silent_p.S81S|PIKFYVE_ENST00000308862.6_Silent_p.S81S	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	81					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGCTCCCTTCGAGGACACAGT	0.493																																						uc002vcz.2		NA																	0				ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(241-243)TCG>TCT		phosphatidylinositol-3-phosphate 5-kinase type							103.0	98.0	100.0					2																	209138378		2203	4300	6503	SO:0001819	synonymous_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209138378G>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.243G>T	2.37:g.209138378G>T						PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Silent_p.S81S|PIKFYVE_uc002vcv.2_Silent_p.S81S|PIKFYVE_uc002vcw.2_Silent_p.S81S|PIKFYVE_uc002vcx.2_Silent_p.S81S	p.S81S	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			3	401	+			81					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	c.243G>T	CCDS2382.1																																																																																				0.493	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		10	122	1	0	0.000442599	0.000486608	10	122				
VIL1	7429	broad.mit.edu	37	2	219314035	219314035	+	Silent	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:219314035C>G	ENST00000248444.5	+	20	2548	c.2460C>G	c.(2458-2460)ctC>ctG	p.L820L	VIL1_ENST00000392114.2_Silent_p.L509L	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	820	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.|Headpiece.|LPA/PIP2-binding site 3.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACAAAACCTCAAGAAAGAAA	0.448																																						uc002via.2		NA																	0				ovary(1)	1						c.(2458-2460)CTC>CTG		villin 1							153.0	161.0	158.0					2																	219314035		2203	4300	6503	SO:0001819	synonymous_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219314035C>G	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.2460C>G	2.37:g.219314035C>G						VIL1_uc010zke.1_Silent_p.L509L|VIL1_uc002vib.2_Silent_p.L820L	p.L820L	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	20	2525	+		Renal(207;0.0474)	820			Headpiece.|HP.|LPA/PIP2-binding site 3.		B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	c.2460C>G	CCDS2417.1																																																																																				0.448	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		34	245	0	0	0	0	34	245				
WDFY1	57590	broad.mit.edu	37	2	224809872	224809872	+	Missense_Mutation	SNP	C	C	T	rs550293700	byFrequency	TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr2:224809872C>T	ENST00000233055.4	-	1	232	c.130G>A	c.(130-132)Gag>Aag	p.E44K		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	44						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TACCTGTCCTCGCTGGCCGTG	0.751													C|||	2	0.000399361	0.0	0.0	5008	,	,		10909	0.0		0.0	False		,,,				2504	0.002					uc002vnq.2		NA																	0				lung(1)	1						c.(130-132)GAG>AAG		WD repeat and FYVE domain containing 1							10.0	11.0	11.0					2																	224809872		2179	4268	6447	SO:0001583	missense	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224809872C>T	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.130G>A	2.37:g.224809872C>T	ENSP00000233055:p.Glu44Lys						p.E44K	NM_020830	NP_065881	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	1	181	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	44			WD 1.		Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	ENST00000233055.4	37	c.130G>A	CCDS33387.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293952	0.81025	.	.	ENSG00000085449	ENST00000233055;ENST00000429915	T;T	0.59906	0.23;0.23	3.95	3.95	0.45737	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.49167	0.1541	L	0.46819	1.47	0.80722	D	1	P	0.39282	0.666	B	0.36134	0.218	T	0.49570	-0.8926	10	0.24483	T	0.36	-29.1439	15.7963	0.78412	0.0:1.0:0.0:0.0	.	44	Q8IWB7	WDFY1_HUMAN	K	44	ENSP00000233055:E44K;ENSP00000395416:E44K	ENSP00000233055:E44K	E	-	1	0	WDFY1	224518116	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	4.690000	0.61731	2.002000	0.58637	0.655000	0.94253	GAG		0.751	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		5	26	0	0	0	0	5	26				
MKKS	8195	broad.mit.edu	37	20	10393770	10393770	+	Silent	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:10393770G>C	ENST00000347364.3	-	3	1155	c.393C>G	c.(391-393)ctC>ctG	p.L131L	MKKS_ENST00000399054.2_Silent_p.L131L	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	131					artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TCTCAGACTTGAGATAACTGA	0.398																																					Melanoma(79;1979 2212 6640)	uc002wnt.1		NA																	0					0						c.(391-393)CTC>CTG		McKusick-Kaufman syndrome protein							89.0	83.0	85.0					20																	10393770		2203	4300	6503	SO:0001819	synonymous_variant	8195	Bardet-Biedl_syndrome			brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding	g.chr20:10393770G>C	AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"""Heat Shock Proteins / Chaperonins"""	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.393C>G	20.37:g.10393770G>C						MKKS_uc002wnu.1_Silent_p.L131L|MKKS_uc010zrd.1_Intron	p.L131L	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN			3	1280	-			131					A8K7B0|D3DW18	Silent	SNP	ENST00000347364.3	37	c.393C>G	CCDS13111.1																																																																																				0.398	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3			5	87	0	0	0	0	5	87				
MKKS	8195	broad.mit.edu	37	20	10393844	10393844	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:10393844G>C	ENST00000347364.3	-	3	1081	c.319C>G	c.(319-321)Cag>Gag	p.Q107E	MKKS_ENST00000399054.2_Missense_Mutation_p.Q107E	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	107					artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						CCTAATCTCTGAACATTTTCA	0.393																																					Melanoma(79;1979 2212 6640)	uc002wnt.1		NA																	0					0						c.(319-321)CAG>GAG		McKusick-Kaufman syndrome protein							105.0	97.0	100.0					20																	10393844		2203	4300	6503	SO:0001583	missense	8195	Bardet-Biedl_syndrome			brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding	g.chr20:10393844G>C	AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"""Heat Shock Proteins / Chaperonins"""	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.319C>G	20.37:g.10393844G>C	ENSP00000246062:p.Gln107Glu					MKKS_uc002wnu.1_Missense_Mutation_p.Q107E|MKKS_uc010zrd.1_Intron	p.Q107E	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN			3	1206	-			107					A8K7B0|D3DW18	Missense_Mutation	SNP	ENST00000347364.3	37	c.319C>G	CCDS13111.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276218	0.23307	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	T;T	0.77098	-1.07;-1.07	5.93	5.93	0.95920	.	0.230396	0.44902	D	0.000411	T	0.66557	0.2801	M	0.68317	2.08	0.09310	N	0.999999	P	0.35894	0.526	B	0.27715	0.082	T	0.60979	-0.7155	10	0.02654	T	1	-21.5051	9.4211	0.38553	0.073:0.0:0.7738:0.1532	.	107	Q9NPJ1	MKKS_HUMAN	E	107	ENSP00000246062:Q107E;ENSP00000382008:Q107E	ENSP00000246062:Q107E	Q	-	1	0	MKKS	10341844	0.984000	0.35163	0.989000	0.46669	0.928000	0.56348	3.023000	0.49666	2.803000	0.96430	0.585000	0.79938	CAG		0.393	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3			10	90	0	0	0	0	10	90				
MKKS	8195	broad.mit.edu	37	20	10393971	10393971	+	Silent	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:10393971G>C	ENST00000347364.3	-	3	954	c.192C>G	c.(190-192)ctC>ctG	p.L64L	MKKS_ENST00000399054.2_Silent_p.L64L	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	64					artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						AAAGGTGACTGAGCAGAGCTG	0.468																																					Melanoma(79;1979 2212 6640)	uc002wnt.1		NA																	0					0						c.(190-192)CTC>CTG		McKusick-Kaufman syndrome protein							166.0	143.0	151.0					20																	10393971		2203	4300	6503	SO:0001819	synonymous_variant	8195	Bardet-Biedl_syndrome			brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding	g.chr20:10393971G>C	AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"""Heat Shock Proteins / Chaperonins"""	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.192C>G	20.37:g.10393971G>C						MKKS_uc002wnu.1_Silent_p.L64L|MKKS_uc010zrd.1_Intron	p.L64L	NM_018848	NP_061336	Q9NPJ1	MKKS_HUMAN			3	1079	-			64					A8K7B0|D3DW18	Silent	SNP	ENST00000347364.3	37	c.192C>G	CCDS13111.1																																																																																				0.468	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3			10	112	0	0	0	0	10	112				
L3MBTL1	26013	broad.mit.edu	37	20	42144745	42144745	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:42144745G>C	ENST00000427442.2	+	7	883	c.724G>C	c.(724-726)Gaa>Caa	p.E242Q	L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.E174Q|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.E174Q|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.E174Q|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.E242Q			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	174					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GAAGCAAGAAGAAGGAAAGGA	0.552																																						uc010zwh.1		NA																	0					0						c.(724-726)GAA>CAA		l(3)mbt-like isoform I							76.0	66.0	69.0					20																	42144745		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42144745G>C	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.724G>C	20.37:g.42144745G>C	ENSP00000402107:p.Glu242Gln					L3MBTL_uc010ggk.1_Missense_Mutation_p.E174Q|L3MBTL_uc002xkl.2_Missense_Mutation_p.E174Q|L3MBTL_uc002xkm.2_Missense_Mutation_p.E174Q|L3MBTL_uc010ggl.2_Missense_Mutation_p.E174Q	p.E242Q	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		7	770	+		Myeloproliferative disorder(115;0.00452)	174					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.724G>C	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837040	0.50951	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134	T;T;T;T;T	0.19532	2.18;2.18;2.14;2.15;2.15	5.38	4.43	0.53597	.	0.837751	0.10735	N	0.640093	T	0.17323	0.0416	L	0.28115	0.83	0.34798	D	0.736467	B;B;P;B	0.39216	0.202;0.361;0.664;0.302	B;B;B;B	0.37989	0.034;0.08;0.262;0.165	T	0.17440	-1.0369	10	0.49607	T	0.09	.	11.2632	0.49095	0.0858:0.0:0.9142:0.0	.	242;174;174;174	Q9Y468-5;Q9Y468;Q9Y468-2;Q9Y468-1	.;LMBL1_HUMAN;.;.	Q	242;242;174;174;174	ENSP00000402107:E242Q;ENSP00000398516:E242Q;ENSP00000362227:E174Q;ENSP00000403316:E174Q;ENSP00000362226:E174Q	ENSP00000362226:E174Q	E	+	1	0	L3MBTL1	41578159	1.000000	0.71417	0.995000	0.50966	0.882000	0.50991	3.981000	0.56902	1.285000	0.44548	0.655000	0.94253	GAA		0.552	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		5	73	0	0	0	0	5	73				
HNF4A	3172	broad.mit.edu	37	20	43030122	43030122	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:43030122G>A	ENST00000316099.4	+	1	199	c.110G>A	c.(109-111)gGc>gAc	p.G37D	HNF4A_ENST00000316673.4_Intron|HNF4A_ENST00000415691.2_Missense_Mutation_p.G37D|HNF4A_ENST00000443598.2_Missense_Mutation_p.G37D|HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000609795.1_Intron	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	37					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TTGACGATGGGCAATGGTAGG	0.587																																					Colon(79;2 1269 8820 14841 52347)	uc002xma.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(109-111)GGC>GAC		hepatocyte nuclear factor 4 alpha isoform b							125.0	96.0	106.0					20																	43030122		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43030122G>A	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.110G>A	20.37:g.43030122G>A	ENSP00000312987:p.Gly37Asp					HNF4A_uc010zwo.1_Intron|HNF4A_uc002xlt.2_Intron|HNF4A_uc002xlu.2_Intron|HNF4A_uc002xlv.2_Intron|uc002xlw.1_Intron|HNF4A_uc002xly.2_Missense_Mutation_p.G37D|HNF4A_uc002xlz.2_Missense_Mutation_p.G37D|HNF4A_uc010ggq.2_5'UTR	p.G37D	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	199	+		Myeloproliferative disorder(115;0.0122)	37					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.110G>A	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968670	0.53614	.	.	ENSG00000101076	ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D	0.92397	-2.97;-3.03;-2.97	5.23	5.23	0.72850	.	0.630966	0.18135	N	0.150581	D	0.88724	0.6514	L	0.42245	1.32	0.53688	D	0.999976	B;B;B	0.20052	0.013;0.006;0.041	B;B;B	0.22753	0.027;0.013;0.041	D	0.85507	0.1195	10	0.56958	D	0.05	.	11.8742	0.52537	0.0805:0.0:0.9195:0.0	.	37;37;37	P41235;F1D8S2;P41235-3	HNF4A_HUMAN;.;.	D	37	ENSP00000312987:G37D;ENSP00000410911:G37D;ENSP00000412111:G37D	ENSP00000312987:G37D	G	+	2	0	HNF4A	42463536	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.351000	0.66022	2.440000	0.82611	0.555000	0.69702	GGC		0.587	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			10	96	0	0	0	0	10	96				
SLPI	6590	broad.mit.edu	37	20	43882277	43882277	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:43882277C>T	ENST00000338380.2	-	2	203	c.183G>A	c.(181-183)aaG>aaA	p.K61K		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	61	Trypsin inhibitory domain.|WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				GACAACATCTCTTCTTCCCTG	0.517																																					GBM(64;162 1089 31780 33427 34538)	uc002xnm.1		NA																	0				ovary(1)	1						c.(181-183)AAG>AAA		secretory leukocyte peptidase inhibitor							113.0	98.0	103.0					20																	43882277		2203	4300	6503	SO:0001819	synonymous_variant	6590					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:43882277C>T	X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"""WAP four-disulfide core domain containing"""	11092	protein-coding gene	gene with protein product	"""antileukoproteinase"""	107285	"""secretory leukocyte protease inhibitor (antileukoproteinase)"""			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.183G>A	20.37:g.43882277C>T							p.K61K	NM_003064	NP_003055	P03973	SLPI_HUMAN			2	205	-		Myeloproliferative disorder(115;0.0122)	61			Trypsin inhibitory domain.|WAP 1.		B2R5H8|P07757	Silent	SNP	ENST00000338380.2	37	c.183G>A	CCDS13347.1																																																																																				0.517	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080494.3			5	74	0	0	0	0	5	74				
PES1	23481	broad.mit.edu	37	22	30985250	30985250	+	Missense_Mutation	SNP	C	C	T	rs529713663		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr22:30985250C>T	ENST00000354694.7	-	2	138	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	PES1_ENST00000335214.6_Missense_Mutation_p.R11Q|PES1_ENST00000405677.1_5'UTR|PES1_ENST00000402284.3_Missense_Mutation_p.R11Q|PES1_ENST00000402281.1_5'UTR	NM_001243225.1|NM_014303.3	NP_001230154.1|NP_055118.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GGCCGAGCCTCGTTCATACTG	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21136	0.0		0.0	False		,,,				2504	0.0					uc003aij.1		NA																	0					0						c.(31-33)CGA>CAA		pescadillo homolog 1, containing BRCT domain							69.0	58.0	62.0					22																	30985250		2203	4300	6503	SO:0001583	missense	23481				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)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30985250C>T	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000354694.7:c.32G>A	22.37:g.30985250C>T	ENSP00000346725:p.Arg11Gln					PES1_uc003aik.1_Missense_Mutation_p.R11Q|PES1_uc003ail.1_Missense_Mutation_p.R11Q|PES1_uc003aim.1_Missense_Mutation_p.R11Q|PES1_uc003ain.1_5'UTR|PES1_uc003aio.1_5'UTR	p.R11Q	NM_014303	NP_055118	O00541	PESC_HUMAN			2	106	-			11			Sufficient for nucleolar localization.|Required for 28S ribosomal RNA processing.			Missense_Mutation	SNP	ENST00000354694.7	37	c.32G>A	CCDS13880.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215870	0.95104	.	.	ENSG00000100029	ENST00000354694;ENST00000402284;ENST00000335214;ENST00000433575	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.6	5.6	0.85130	.	0.182670	0.48286	D	0.000199	T	0.53658	0.1810	M	0.72118	2.19	0.80722	D	1	D;P;D;D	0.58620	0.983;0.946;0.974;0.983	P;P;B;P	0.48770	0.589;0.545;0.376;0.589	T	0.57539	-0.7794	10	0.54805	T	0.06	-4.7931	18.2207	0.89901	0.0:1.0:0.0:0.0	.	11;11;11;11	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	Q	11	ENSP00000346725:R11Q;ENSP00000384252:R11Q;ENSP00000334612:R11Q;ENSP00000388071:R11Q	ENSP00000334612:R11Q	R	-	2	0	PES1	29315250	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	6.906000	0.75719	2.639000	0.89480	0.650000	0.86243	CGA		0.498	PES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321188.3	NM_014303		4	49	0	0	0	0	4	49				
MYH9	4627	broad.mit.edu	37	22	36712581	36712581	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr22:36712581G>A	ENST00000216181.5	-	12	1591	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	454	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCGAAGCCGGCAATGTCCAG	0.562			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NA		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(1360-1362)GCC>GTC		myosin, heavy polypeptide 9, non-muscle							117.0	116.0	117.0					22																	36712581		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36712581G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1361C>T	22.37:g.36712581G>A	ENSP00000216181:p.Ala454Val					MYH9_uc003aph.1_Missense_Mutation_p.A318V	p.A454V	NM_002473	NP_002464	P35579	MYH9_HUMAN			12	1592	-			454			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1361C>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259092	0.95368	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.72282	-0.64	5.1	5.1	0.69264	Myosin head, motor domain (3);	0.054303	0.64402	D	0.000001	D	0.87525	0.6199	H	0.98833	4.345	0.80722	D	1	D	0.63880	0.993	P	0.50314	0.637	D	0.92979	0.6404	10	0.87932	D	0	.	18.5469	0.91050	0.0:0.0:1.0:0.0	.	454	P35579	MYH9_HUMAN	V	318;454	ENSP00000216181:A454V	ENSP00000216181:A454V	A	-	2	0	MYH9	35042527	1.000000	0.71417	0.973000	0.42090	0.848000	0.48234	9.869000	0.99810	2.538000	0.85594	0.585000	0.79938	GCC		0.562	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		4	236	0	0	0	0	4	236				
GRIP2	80852	broad.mit.edu	37	3	14562009	14562009	+	RNA	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:14562009C>T	ENST00000273083.3	-	0	813							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TTGACTATTTCCACCATCAAG	0.552																																						uc011avi.1		NA																	0				pancreas(1)	1						c.(1039-1041)GAA>AAA		glutamate receptor interacting protein 2							69.0	75.0	73.0					3																	14562009		2042	4190	6232			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14562009C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14562009C>T						GRIP2_uc011avh.1_5'UTR	p.E347K	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			9	1039	-			250			PDZ 3.		Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37	c.1039G>A																																																																																					0.552	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		4	38	0	0	0	0	4	38				
THRB	7068	broad.mit.edu	37	3	24174936	24174936	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:24174936T>G	ENST00000356447.4	-	8	1040	c.756A>C	c.(754-756)caA>caC	p.Q252H	THRB_ENST00000396671.2_Missense_Mutation_p.Q252H|THRB_ENST00000416420.1_Missense_Mutation_p.Q252H|THRB_ENST00000280696.5_Missense_Mutation_p.Q267H	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	252	Interaction with NR2F6.|Ligand-binding.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CTATTGGTGCTTGTCCAATGT	0.393																																					Melanoma(21;896 1043 15021 37958)	uc003ccx.3		NA																	0				skin(2)|pancreas(1)	3						c.(754-756)CAA>CAC		thyroid hormone receptor, beta	Levothyroxine(DB00451)|Liothyronine(DB00279)						91.0	91.0	91.0					3																	24174936		2203	4300	6503	SO:0001583	missense	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24174936T>G		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.756A>C	3.37:g.24174936T>G	ENSP00000348827:p.Gln252His					THRB_uc010hfe.2_Missense_Mutation_p.Q252H|THRB_uc003ccy.3_Missense_Mutation_p.Q252H|THRB_uc003ccz.3_Missense_Mutation_p.Q247H	p.Q252H	NM_001128176	NP_001121648	P10828	THB_HUMAN			9	1105	-			252			Ligand-binding.|Interaction with NR2F6.		B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Missense_Mutation	SNP	ENST00000356447.4	37	c.756A>C	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.067810	0.36470	.	.	ENSG00000151090	ENST00000396671;ENST00000356447;ENST00000416420;ENST00000280696	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	5.93	3.58	0.41010	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.64402	D	0.000002	D	0.92264	0.7546	M	0.66939	2.045	0.48236	D	0.999616	B	0.02656	0.0	B	0.04013	0.001	D	0.87550	0.2464	10	0.56958	D	0.05	.	9.9131	0.41417	0.0:0.1964:0.0:0.8036	.	252	P10828	THB_HUMAN	H	252;252;252;267	ENSP00000379904:Q252H;ENSP00000348827:Q252H;ENSP00000414444:Q252H;ENSP00000280696:Q267H	ENSP00000280696:Q267H	Q	-	3	2	THRB	24149940	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	2.156000	0.42310	0.510000	0.28216	-0.353000	0.07706	CAA		0.393	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		5	82	0	0	0	0	5	82				
TCAIM	285343	broad.mit.edu	37	3	44437946	44437946	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:44437946C>T	ENST00000342649.4	+	7	1177	c.750C>T	c.(748-750)agC>agT	p.S250S	TCAIM_ENST00000417237.1_Silent_p.S250S	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	250						mitochondrion (GO:0005739)											ATAGTTTAAGCCGCTTAGCAC	0.438																																						uc010him.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(748-750)AGC>AGT		hypothetical protein LOC285343 isoform 1							44.0	40.0	42.0					3																	44437946		2203	4300	6503	SO:0001819	synonymous_variant	285343					mitochondrion		g.chr3:44437946C>T		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.750C>T	3.37:g.44437946C>T						C3orf23_uc003cnd.3_Silent_p.S250S|C3orf23_uc003cne.3_Silent_p.S106S	p.S250S	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	7	995	+			250					A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Silent	SNP	ENST00000342649.4	37	c.750C>T	CCDS2712.1																																																																																				0.438	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		3	40	0	0	0	0	3	40				
ZNF660	285349	broad.mit.edu	37	3	44635868	44635868	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:44635868G>A	ENST00000322734.2	+	3	516	c.183G>A	c.(181-183)caG>caA	p.Q61Q	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	61					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CCTTTAGTCAGAGTGCAAACC	0.438																																						uc003cnl.1		NA																	0					0						c.(181-183)CAG>CAA		zinc finger protein 660							101.0	98.0	99.0					3																	44635868		2203	4300	6503	SO:0001819	synonymous_variant	285349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44635868G>A	AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"""Zinc fingers, C2H2-type"""	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.183G>A	3.37:g.44635868G>A							p.Q61Q	NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	3	516	+			61			C2H2-type 1.		Q7Z331|Q8N9M8	Silent	SNP	ENST00000322734.2	37	c.183G>A	CCDS2716.1																																																																																				0.438	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256756.4	NM_173658		6	63	0	0	0	0	6	63				
NME6	10201	broad.mit.edu	37	3	48336722	48336722	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:48336722C>T	ENST00000452211.1	-	6	474	c.237G>A	c.(235-237)ggG>ggA	p.G79G	ZNF589_ENST00000412564.1_Intron|NME6_ENST00000415053.1_Silent_p.G79G|NME6_ENST00000451657.1_Missense_Mutation_p.G66D|NME6_ENST00000421967.1_Silent_p.G87G|NME6_ENST00000435684.1_Missense_Mutation_p.G66D|NME6_ENST00000450160.1_Missense_Mutation_p.G66D|NME6_ENST00000415644.1_Intron|NME6_ENST00000426723.1_Intron|NME6_ENST00000444069.1_5'UTR|NME6_ENST00000447314.1_Silent_p.G34G|NME6_ENST00000426689.2_Silent_p.G79G|NME6_ENST00000442597.1_Silent_p.G79G			O75414	NDK6_HUMAN	NME/NM23 nucleoside diphosphate kinase 6	79					apoptotic process (GO:0006915)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|negative regulation of cell growth (GO:0030308)|negative regulation of mitosis (GO:0045839)|UTP biosynthetic process (GO:0006228)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			breast(1)|large_intestine(5)	6				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CTCGGATTGGCCCGCTGTGAA	0.552																																						uc003csp.3		NA																	0					0						c.(235-237)GGG>GGA		nucleoside diphosphate kinase type 6							42.0	37.0	39.0					3																	48336722		2203	4300	6503	SO:0001819	synonymous_variant	10201				anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process	mitochondrion	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr3:48336722C>T	AF051941	CCDS2763.1	3p21.31	2012-05-18	2012-05-18		ENSG00000172113	ENSG00000172113			20567	protein-coding gene	gene with protein product		608294	"""non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase)"""			10453732, 19852809	Standard	NM_005793		Approved	NM23-H6, IPIA-ALPHA	uc003cso.3	O75414	OTTHUMG00000133531	ENST00000452211.1:c.237G>A	3.37:g.48336722C>T						NME6_uc003cso.2_Silent_p.G87G|NME6_uc011bbh.1_Missense_Mutation_p.G66D|NME6_uc010hju.2_5'UTR|NME6_uc011bbi.1_Intron	p.G79G	NM_005793	NP_005784	O75414	NDK6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)	5	288	-			79					B4DGW7|B4DM99|Q53HM5|Q96E73|Q9BQ63	Silent	SNP	ENST00000452211.1	37	c.237G>A		.	.	.	.	.	.	.	.	.	.	C	13.32	2.203019	0.38905	.	.	ENSG00000172113	ENST00000450160;ENST00000451657;ENST00000435684	.	.	.	4.66	0.631	0.17699	.	0.000000	0.85682	D	0.000000	T	0.27278	0.0669	.	.	.	0.26180	N	0.979735	B	0.17038	0.02	B	0.16722	0.016	T	0.17868	-1.0355	8	0.66056	D	0.02	-4.9563	4.2435	0.10660	0.0:0.4642:0.1638:0.372	.	66	O75414-3	.	D	66	.	ENSP00000393261:G66D	G	-	2	0	NME6	48311726	0.905000	0.30787	1.000000	0.80357	0.816000	0.46133	-0.066000	0.11598	0.304000	0.22809	-0.136000	0.14681	GGC		0.552	NME6-005	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000346107.1	NM_005793		3	37	0	0	0	0	3	37				
PBRM1	55193	broad.mit.edu	37	3	52643617	52643617	+	Missense_Mutation	SNP	C	C	T	rs199976998		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:52643617C>T	ENST00000296302.7	-	16	2280	c.2279G>A	c.(2278-2280)cGc>cAc	p.R760H	PBRM1_ENST00000409114.3_Missense_Mutation_p.R775H|PBRM1_ENST00000394830.3_Missense_Mutation_p.R760H|PBRM1_ENST00000409767.1_Missense_Mutation_p.R775H|PBRM1_ENST00000410007.1_Missense_Mutation_p.R760H|PBRM1_ENST00000356770.4_Missense_Mutation_p.R728H|PBRM1_ENST00000337303.4_Missense_Mutation_p.R760H|PBRM1_ENST00000409057.1_Missense_Mutation_p.R760H			Q86U86	PB1_HUMAN	polybromo 1	760					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CAGGTCTCTGCGTGTTTCAAG	0.423			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								C|||	1	0.000199681	0.0	0.0	5008	,	,		22196	0.0		0.001	False		,,,				2504	0.0					uc003des.2		NA		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		0				kidney(136)|breast(4)	140						c.(2278-2280)CGC>CAC		polybromo 1 isoform 4		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	83.0	82.0	82.0		2183,2279,2279	6.2	1.0	3		82	0,8600		0,0,4300	yes	missense,missense,missense	PBRM1	NM_018165.4,NM_018313.4,NM_181042.3	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	728/1603,760/1583,760/1583	52643617	1,13005	2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52643617C>T	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2279G>A	3.37:g.52643617C>T	ENSP00000296302:p.Arg760His					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.R760H|PBRM1_uc003der.2_Missense_Mutation_p.R728H|PBRM1_uc003det.2_Missense_Mutation_p.R775H|PBRM1_uc003deu.2_Missense_Mutation_p.R775H|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.R760H|PBRM1_uc010hmk.1_Missense_Mutation_p.R760H|PBRM1_uc003dey.2_Missense_Mutation_p.R760H|PBRM1_uc003dez.1_Missense_Mutation_p.R760H|PBRM1_uc003dfb.1_Missense_Mutation_p.R673H|PBRM1_uc003dfa.1_Missense_Mutation_p.R106H|PBRM1_uc003dfc.2_Missense_Mutation_p.R127H	p.R760H	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	16	2291	-			760					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.2279G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.82	3.899007	0.72754	2.27E-4	0.0	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16	6.17	6.17	0.99709	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	L	0.60455	1.87	0.53688	D	0.99997	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;1.0;0.997;1.0;0.999;0.999;0.999	D;D;D;P;D;D;P;D;P;D;D	0.85130	0.993;0.954;0.951;0.786;0.962;0.989;0.601;0.997;0.764;0.985;0.985	T	0.21314	-1.0249	10	0.72032	D	0.01	0.028	20.8794	0.99867	0.0:1.0:0.0:0.0	.	760;135;760;760;760;760;775;775;760;728;760	Q86U86-9;Q6IRX1;Q86U86-6;E7EVG2;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;.;.;PB1_HUMAN;.;.	H	728;760;760;760;760;760;775;775;760;719	ENSP00000349213:R728H;ENSP00000378307:R760H;ENSP00000296302:R760H;ENSP00000338302:R760H;ENSP00000386593:R760H;ENSP00000386529:R760H;ENSP00000386643:R775H;ENSP00000386601:R775H;ENSP00000387775:R760H;ENSP00000397662:R719H	ENSP00000296302:R760H	R	-	2	0	PBRM1	52618657	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.915000	0.63355	2.941000	0.99782	0.655000	0.94253	CGC		0.423	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		19	124	0	0	0	0	19	124				
MYH15	22989	broad.mit.edu	37	3	108147437	108147437	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:108147437G>A	ENST00000273353.3	-	28	3720	c.3664C>T	c.(3664-3666)Cta>Tta	p.L1222L		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1222						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACCTGCTGTAGATTTTCTACC	0.488																																						uc003dxa.1		NA																	0				ovary(5)|central_nervous_system(2)	7						c.(3664-3666)CTA>TTA		myosin, heavy polypeptide 15							169.0	158.0	161.0					3																	108147437		1942	4143	6085	SO:0001819	synonymous_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108147437G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3664C>T	3.37:g.108147437G>A							p.L1222L	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			28	3721	-			1222			Potential.			Silent	SNP	ENST00000273353.3	37	c.3664C>T	CCDS43127.1																																																																																				0.488	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		16	213	0	0	0	0	16	213				
SLC9C1	285335	broad.mit.edu	37	3	111981806	111981806	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:111981806C>T	ENST00000305815.5	-	10	1414	c.1162G>A	c.(1162-1164)Gat>Aat	p.D388N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.D340N	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	388					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AAATAAAGATCAGAGTAGGCA	0.333																																						uc003dyu.2		NA																	0				ovary(3)|breast(2)	5						c.(1162-1164)GAT>AAT		sperm-specific sodium proton exchanger							70.0	68.0	69.0					3																	111981806		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111981806C>T	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1162G>A	3.37:g.111981806C>T	ENSP00000306627:p.Asp388Asn					SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Missense_Mutation_p.D340N	p.D388N	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			10	1384	-			388					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.1162G>A	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453361	0.43531	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.78924	2.42;-1.22	5.78	3.03	0.35002	Cation/H+ exchanger (1);	0.851711	0.10481	N	0.669550	T	0.78097	0.4230	L	0.38838	1.175	0.09310	N	1	D;D	0.64830	0.994;0.968	P;P	0.59221	0.854;0.773	T	0.63839	-0.6546	10	0.48119	T	0.1	-26.4367	6.978	0.24688	0.0:0.7278:0.0:0.2722	.	340;388	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	N	388;340	ENSP00000306627:D388N;ENSP00000420688:D340N	ENSP00000306627:D388N	D	-	1	0	SLC9A10	113464496	0.364000	0.24997	0.388000	0.26195	0.205000	0.24178	0.868000	0.27982	0.784000	0.33661	0.543000	0.68304	GAT		0.333	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		7	68	0	0	0	0	7	68				
RHO	6010	broad.mit.edu	37	3	129251462	129251462	+	Missense_Mutation	SNP	C	C	G	rs199583468		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:129251462C>G	ENST00000296271.3	+	4	877	c.783C>G	c.(781-783)ttC>ttG	p.F261L		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	261					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TCATCGCTTTCCTGATCTGCT	0.592																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	uc003emt.2		NA																	0					0						c.(781-783)TTC>TTG		rhodopsin	Halothane(DB01159)						225.0	163.0	184.0					3																	129251462		2203	4300	6503	SO:0001583	missense	6010				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129251462C>G	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.783C>G	3.37:g.129251462C>G	ENSP00000296271:p.Phe261Leu						p.F261L	NM_000539	NP_000530	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	4	878	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	261			Helical; Name=6; (Potential).		Q16414|Q2M249	Missense_Mutation	SNP	ENST00000296271.3	37	c.783C>G	CCDS3063.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368331	0.95900	.	.	ENSG00000163914	ENST00000296271	T	0.56611	0.45	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.046249	0.85682	D	0.000000	T	0.72211	0.3432	M	0.92604	3.325	0.80722	D	1	P	0.46220	0.874	P	0.48141	0.568	T	0.80320	-0.1432	10	0.87932	D	0	.	19.0257	0.92931	0.0:1.0:0.0:0.0	.	261	P08100	OPSD_HUMAN	L	261	ENSP00000296271:F261L	ENSP00000296271:F261L	F	+	3	2	RHO	130734152	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	4.968000	0.63728	2.595000	0.87683	0.561000	0.74099	TTC		0.592	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539		7	109	0	0	0	0	7	109				
IGSF10	285313	broad.mit.edu	37	3	151164902	151164903	+	Missense_Mutation	DNP	GT	GT	TC			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:151164902_151164903GT>TC	ENST00000282466.3	-	4	2865_2866	c.2866_2867AC>GA	c.(2866-2868)ACa>GAa	p.T956E		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	956					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTTACAGATGTCTGATGACTA	0.396																																						uc011bod.1		NA																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(2866-2868)ACA>GAA		immunoglobulin superfamily, member 10 precursor																																				SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151164902_151164903GT>TC	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2866_2867delinsTC	3.37:g.151164902_151164903delinsTC	ENSP00000282466:p.Thr956Glu						p.T956E	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2866_2867	-			956					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	DNP	ENST00000282466.3	37	c.2866_2867AC>GA	CCDS3160.1																																																																																				0.396	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		112	260	0	0	0	0	112	260				
GOLIM4	27333	broad.mit.edu	37	3	167742808	167742808	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:167742808G>A	ENST00000470487.1	-	13	2388	c.1699C>T	c.(1699-1701)Caa>Taa	p.Q567*	GOLIM4_ENST00000309027.4_Nonsense_Mutation_p.Q539*	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	567	Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCTCTCACTTGCTCGGCTTCT	0.373																																						uc003ffe.2		NA																	0				breast(4)|skin(1)	5						c.(1699-1701)CAA>TAA		golgi integral membrane protein 4							178.0	162.0	167.0					3																	167742808		2202	4300	6502	SO:0001587	stop_gained	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167742808G>A	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1699C>T	3.37:g.167742808G>A	ENSP00000417354:p.Gln567*					GOLIM4_uc011bpe.1_Nonsense_Mutation_p.Q568*|GOLIM4_uc011bpf.1_Nonsense_Mutation_p.Q540*|GOLIM4_uc011bpg.1_Nonsense_Mutation_p.Q539*	p.Q567*	NM_014498	NP_055313	O00461	GOLI4_HUMAN			13	2043	-			567			Glu-rich.|Lumenal (Potential).			Nonsense_Mutation	SNP	ENST00000470487.1	37	c.1699C>T	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	G	45	11.572231	0.99578	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	6.0	6.0	0.97389	.	0.098992	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-21.5329	20.5595	0.99322	0.0:0.0:1.0:0.0	.	.	.	.	X	567;539	.	ENSP00000309893:Q539X	Q	-	1	0	GOLIM4	169225502	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	5.604000	0.67626	2.868000	0.98415	0.555000	0.69702	CAA		0.373	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			29	269	0	0	0	0	29	269				
PSMD2	5708	broad.mit.edu	37	3	184023708	184023708	+	Silent	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:184023708C>G	ENST00000310118.4	+	13	2250	c.1692C>G	c.(1690-1692)ctC>ctG	p.L564L	PSMD2_ENST00000435761.1_Silent_p.L405L|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.L434L	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	564					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GACTGGGTCTCAACCACCTGG	0.493											OREG0015947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(24;313 636 6917 9932 15554)	uc003fnn.1		NA																	0					0						c.(1690-1692)CTC>CTG		proteasome 26S non-ATPase subunit 2	Bortezomib(DB00188)						117.0	102.0	107.0					3																	184023708		2203	4300	6503	SO:0001819	synonymous_variant	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184023708C>G	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.1692C>G	3.37:g.184023708C>G			OREG0015947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1988	PSMD2_uc011brj.1_Silent_p.L405L|PSMD2_uc011brk.1_Silent_p.L434L	p.L564L	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		13	1725	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		564			PC 5.		B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Silent	SNP	ENST00000310118.4	37	c.1692C>G	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	C	8.992	0.977947	0.18812	.	.	ENSG00000175166	ENST00000432855	.	.	.	5.83	3.07	0.35406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.6219	6.3101	0.21161	0.111:0.4244:0.3914:0.0731	.	.	.	.	X	25	.	.	S	+	2	0	PSMD2	185506402	0.772000	0.28567	1.000000	0.80357	0.997000	0.91878	-0.112000	0.10791	0.371000	0.24564	0.603000	0.83216	TCA		0.493	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		6	132	0	0	0	0	6	132				
WDR53	348793	broad.mit.edu	37	3	196281368	196281368	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr3:196281368T>C	ENST00000332629.5	-	4	1358	c.791A>G	c.(790-792)aAg>aGg	p.K264R	WDR53_ENST00000433160.1_Missense_Mutation_p.K105R|WDR53_ENST00000429115.1_Missense_Mutation_p.K103R	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	264										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		CAACGTGATCTTCCCATCATT	0.468																																						uc003fwt.2		NA																	0				breast(1)|skin(1)	2						c.(790-792)AAG>AGG		WD repeat domain 53							190.0	173.0	179.0					3																	196281368		2203	4300	6503	SO:0001583	missense	348793							g.chr3:196281368T>C	BC054030	CCDS3318.1	3q29	2013-01-09			ENSG00000185798	ENSG00000185798		"""WD repeat domain containing"""	28786	protein-coding gene	gene with protein product		615110				12477932	Standard	NM_182627		Approved	MGC64882, MGC12928	uc003fwt.3	Q7Z5U6	OTTHUMG00000155572	ENST00000332629.5:c.791A>G	3.37:g.196281368T>C	ENSP00000328079:p.Lys264Arg						p.K264R	NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	4	1262	-	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		264			WD 5.		A0MNP1	Missense_Mutation	SNP	ENST00000332629.5	37	c.791A>G	CCDS3318.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.173705	0.38413	.	.	ENSG00000185798	ENST00000332629;ENST00000429115;ENST00000433160	T;T;T	0.60548	0.18;0.18;0.18	5.95	2.06	0.26882	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.336075	0.35096	N	0.003445	T	0.38161	0.1030	N	0.20401	0.57	0.26130	N	0.980435	B	0.14012	0.009	B	0.17433	0.018	T	0.30119	-0.9989	10	0.72032	D	0.01	-17.0565	6.5406	0.22378	0.1164:0.129:0.0:0.7546	.	264	Q7Z5U6	WDR53_HUMAN	R	264;103;105	ENSP00000328079:K264R;ENSP00000396668:K103R;ENSP00000410677:K105R	ENSP00000328079:K264R	K	-	2	0	WDR53	197765765	1.000000	0.71417	0.818000	0.32626	0.970000	0.65996	1.644000	0.37228	0.107000	0.17824	0.528000	0.53228	AAG		0.468	WDR53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340689.1	NM_182627		19	220	0	0	0	0	19	220				
UGT2B27P	54569	broad.mit.edu	37	4	69884067	69884067	+	IGR	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr4:69884067C>G								UGT2A3 (66558 upstream) : UGT2B7 (33126 downstream)																							AGCCATATGTCAGCTTTTCCC	0.363																																						uc011cao.1		NA																	0				skin(3)|ovary(2)	5						c.(646-648)GAC>CAC		RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;							131.0	109.0	116.0					4																	69884067		692	1590	2282	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69884067C>G																													4.37:g.69884067C>G						UGT2B10_uc011can.1_Missense_Mutation_p.D132H	p.D216H			P36537	UDB10_HUMAN			5	782	-			253						Missense_Mutation	SNP		37	c.646G>C																																																																																				0	0.363									33	256	0	0	0	0	33	256				
CDS1	1040	broad.mit.edu	37	4	85538789	85538789	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr4:85538789C>T	ENST00000295887.5	+	4	838	c.415C>T	c.(415-417)Cta>Tta	p.L139L		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TTCTTATGATCTACCATGGTT	0.338																																						uc011ccv.1		NA																	0				large_intestine(2)|ovary(1)|breast(1)	4						c.(415-417)CTA>TTA		CDP-diacylglycerol synthase 1							127.0	122.0	124.0					4																	85538789		2203	4296	6499	SO:0001819	synonymous_variant	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85538789C>T	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.415C>T	4.37:g.85538789C>T							p.L139L	NM_001263	NP_001254	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	4	913	+		Hepatocellular(203;0.114)	139					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000295887.5	37	c.415C>T	CCDS3608.1																																																																																				0.338	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			7	113	0	0	0	0	7	113				
ADH5	128	broad.mit.edu	37	4	100003182	100003182	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr4:100003182T>C	ENST00000296412.8	-	3	250	c.200A>G	c.(199-201)cAt>cGt	p.H67R	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3			alcohol dehydrogenase 5 (class III), chi polypeptide											endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)		AGCACCTTCATGTCCCAAGAT	0.453																																						uc003hui.2		NA																	0				ovary(1)	1						c.(199-201)CAT>CGT		class III alcohol dehydrogenase, chi subunit	NADH(DB00157)						73.0	69.0	70.0					4																	100003182		1909	4129	6038	SO:0001583	missense	128				ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding	g.chr4:100003182T>C	M29872	CCDS47111.1	4q23	2012-07-13	2003-06-19		ENSG00000197894	ENSG00000197894	1.1.1.284	"""Alcohol dehydrogenases"""	253	protein-coding gene	gene with protein product		103710	"""formaldehyde dehydrogenase"""	FDH		1446828, 6424546	Standard	NM_000671		Approved	ADH-3, ADHX	uc003hui.3	P11766	OTTHUMG00000161230	ENST00000296412.8:c.200A>G	4.37:g.100003182T>C	ENSP00000296412:p.His67Arg					ADH5_uc003huk.1_Missense_Mutation_p.H67R|ADH5_uc003huj.2_5'UTR	p.H67R	NM_000671	NP_000662	P11766	ADHX_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	3	280	-			67				Zinc 1; catalytic.		Missense_Mutation	SNP	ENST00000296412.8	37	c.200A>G	CCDS47111.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.676466	0.88445	.	.	ENSG00000197894	ENST00000296412;ENST00000503130	T;T	0.19806	2.12;2.12	5.18	5.18	0.71444	GroES-like (1);Alcohol dehydrogenase GroES-like (1);Alcohol dehydrogenase, zinc-type, conserved site (1);	0.096495	0.64402	D	0.000001	T	0.64091	0.2567	H	0.99058	4.415	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.68353	0.957;0.957	T	0.80139	-0.1507	9	.	.	.	.	15.1973	0.73104	0.0:0.0:0.0:1.0	.	67;67	Q5U043;P11766	.;ADHX_HUMAN	R	67;63	ENSP00000296412:H67R;ENSP00000427049:H63R	.	H	-	2	0	ADH5	100222205	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.365000	0.79537	2.185000	0.69588	0.528000	0.53228	CAT		0.453	ADH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364224.1	NM_000671		15	74	0	0	0	0	15	74				
TMEM184C	55751	broad.mit.edu	37	4	148539207	148539207	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr4:148539207G>A	ENST00000296582.3	+	1	674	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	RP11-425A23.1_ENST00000508072.1_RNA|TMEM184C_ENST00000508208.1_Missense_Mutation_p.V34M	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	34						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TCCCCTATGCGTGTGGGAATT	0.502											OREG0016353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ila.3		NA																	0					0						c.(100-102)GTG>ATG		transmembrane protein 184C							254.0	225.0	235.0					4																	148539207		2203	4300	6503	SO:0001583	missense	55751					integral to membrane		g.chr4:148539207G>A	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.100G>A	4.37:g.148539207G>A	ENSP00000296582:p.Val34Met		OREG0016353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1718		p.V34M	NM_018241	NP_060711	Q9NVA4	T184C_HUMAN			1	669	+			34			Helical; (Potential).		D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	c.100G>A	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518400	0.64634	.	.	ENSG00000164168	ENST00000296582;ENST00000508208	.	.	.	5.45	2.79	0.32731	.	0.229118	0.41712	D	0.000832	T	0.28267	0.0698	L	0.40543	1.245	0.32572	N	0.529703	P	0.52316	0.952	B	0.40285	0.325	T	0.39313	-0.9620	9	0.46703	T	0.11	-7.9604	4.6695	0.12682	0.2986:0.0:0.5612:0.1401	.	34	Q9NVA4	T184C_HUMAN	M	34	.	ENSP00000296582:V34M	V	+	1	0	TMEM184C	148758657	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	2.208000	0.42797	0.361000	0.24292	-0.259000	0.10710	GTG		0.502	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		14	278	0	0	0	0	14	278				
CLCN3	1182	broad.mit.edu	37	4	170628124	170628124	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr4:170628124G>T	ENST00000513761.1	+	11	2415	c.1856G>T	c.(1855-1857)tGg>tTg	p.W619L	CLCN3_ENST00000360642.3_Missense_Mutation_p.W592L|CLCN3_ENST00000347613.4_Missense_Mutation_p.W619L|CLCN3_ENST00000504131.2_Missense_Mutation_p.W602L	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	619					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ACCAGTAAATGGGTTGGAGAT	0.438																																						uc003isi.2		NA																	0				breast(2)|ovary(1)	3						c.(1855-1857)TGG>TTG		chloride channel 3 isoform b							156.0	144.0	148.0					4																	170628124		2203	4300	6503	SO:0001583	missense	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170628124G>T	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1856G>T	4.37:g.170628124G>T	ENSP00000424603:p.Trp619Leu					CLCN3_uc003ish.2_Missense_Mutation_p.W619L|CLCN3_uc011cjz.1_Missense_Mutation_p.W602L|CLCN3_uc011cka.1_Missense_Mutation_p.W592L|CLCN3_uc003isj.1_Missense_Mutation_p.W592L	p.W619L	NM_001829	NP_001820	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	11	2365	+		Prostate(90;0.00601)|Renal(120;0.0183)	619			Helical; (By similarity).		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.1856G>T	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017121	0.93404	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25	5.48	5.48	0.80851	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96784	0.8950	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D	0.89917	0.975;0.975;1.0;0.999;0.987	D;D;D;D;D	0.87578	0.951;0.951;0.998;0.995;0.925	D	0.97098	0.9795	10	0.87932	D	0	-3.4144	19.3596	0.94431	0.0:0.0:1.0:0.0	.	592;602;592;619;619	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	L	619;619;592;602;592	ENSP00000424603:W619L;ENSP00000261514:W619L;ENSP00000353857:W592L;ENSP00000424540:W602L;ENSP00000425323:W592L	ENSP00000261514:W619L	W	+	2	0	CLCN3	170864699	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.734000	0.98822	2.568000	0.86640	0.655000	0.94253	TGG		0.438	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			6	130	1	0	1.13e-05	1.28e-05	6	130				
SPCS3	60559	broad.mit.edu	37	4	177249416	177249416	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr4:177249416G>T	ENST00000503362.1	+	5	591	c.478G>T	c.(478-480)Gtg>Ttg	p.V160L	SPCS3_ENST00000507001.1_3'UTR	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	160					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		TCTACCTCTTGTGACAGGATC	0.348																																						uc003iur.3		NA																	0				ovary(1)	1						c.(478-480)GTG>TTG		signal peptidase complex subunit 3							109.0	99.0	102.0					4																	177249416		1858	4102	5960	SO:0001583	missense	60559				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity	g.chr4:177249416G>T	AK092634	CCDS54823.1	4q34.2	2008-02-05				ENSG00000129128			26212	protein-coding gene	gene with protein product						12477932	Standard	NM_021928		Approved	FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567	uc003iur.4	P61009		ENST00000503362.1:c.478G>T	4.37:g.177249416G>T	ENSP00000427463:p.Val160Leu						p.V160L	NM_021928	NP_068747	P61009	SPCS3_HUMAN		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)	5	616	+		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	160			Lumenal (Potential).		P12280|Q9H0S7	Missense_Mutation	SNP	ENST00000503362.1	37	c.478G>T	CCDS54823.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577812	0.65878	.	.	ENSG00000129128	ENST00000503362	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.77313	2.365	0.80722	D	1	B	0.13145	0.007	B	0.18263	0.021	T	0.65545	-0.6142	9	0.11485	T	0.65	-4.5645	19.2393	0.93875	0.0:0.0:1.0:0.0	.	160	P61009	SPCS3_HUMAN	L	160	.	ENSP00000427463:V160L	V	+	1	0	SPCS3	177486410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.155000	0.94700	2.611000	0.88343	0.650000	0.86243	GTG		0.348	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362329.1	NM_021928		13	90	1	0	1.58e-08	1.85e-08	13	90				
MROH2B	133558	broad.mit.edu	37	5	41009477	41009477	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr5:41009477C>T	ENST00000399564.4	-	32	3775	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E664K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1109																	GCTGGCTTTTCAGCCAGCGCC	0.498																																						uc003jmj.3		NA																	0				ovary(6)|central_nervous_system(2)	8						c.(3325-3327)GAA>AAA		HEAT repeat family member 7B2							91.0	95.0	94.0					5																	41009477		1852	4104	5956	SO:0001583	missense	133558						binding	g.chr5:41009477C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3325G>A	5.37:g.41009477C>T	ENSP00000382476:p.Glu1109Lys					HEATR7B2_uc003jmi.3_Missense_Mutation_p.E664K	p.E1109K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			32	3815	-			1109					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3325G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	6.980	0.550878	0.13374	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.04809	3.55;3.55	6.06	3.23	0.37069	Armadillo-type fold (1);	0.188110	0.37761	N	0.001941	T	0.04907	0.0132	M	0.62723	1.935	0.29912	N	0.823458	P	0.34587	0.458	B	0.31869	0.137	T	0.13602	-1.0503	10	0.06365	T	0.9	.	8.5709	0.33569	0.0:0.633:0.2888:0.0783	.	1109	Q7Z745	HTRB2_HUMAN	K	664;814;1109	ENSP00000441504:E664K;ENSP00000382476:E1109K	ENSP00000296803:E814K	E	-	1	0	HEATR7B2	41045234	1.000000	0.71417	0.999000	0.59377	0.239000	0.25481	2.152000	0.42272	0.890000	0.36211	-0.175000	0.13238	GAA		0.498	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		11	114	0	0	0	0	11	114				
HTR1A	3350	broad.mit.edu	37	5	63257049	63257049	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr5:63257049G>A	ENST00000323865.3	-	1	731	c.498C>T	c.(496-498)ctC>ctT	p.L166L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	166					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGATAGAGATGAGGAAGCCAA	0.607																																						uc011cqt.1		NA																	0				ovary(2)|pancreas(2)	4						c.(496-498)CTC>CTT		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						87.0	103.0	97.0					5																	63257049		2203	4299	6502	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257049G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.498C>T	5.37:g.63257049G>A							p.L166L	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	498	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	166			Helical; Name=4; (By similarity).		Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.498C>T	CCDS34168.1																																																																																				0.607	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		8	99	0	0	0	0	8	99				
EBF1	1879	broad.mit.edu	37	5	158223429	158223429	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr5:158223429G>A	ENST00000313708.6	-	9	1115	c.833C>T	c.(832-834)gCg>gTg	p.A278V	EBF1_ENST00000380654.4_Missense_Mutation_p.A247V|EBF1_ENST00000517373.1_Missense_Mutation_p.A270V|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	278	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|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)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATCACAGTCGCACCTCCCGT	0.463			T	HMGA2	lipoma																																	uc010jip.2		NA		Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(832-834)GCG>GTG		early B-cell factor							141.0	113.0	122.0					5																	158223429		2203	4300	6503	SO:0001583	missense	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158223429G>A	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.833C>T	5.37:g.158223429G>A	ENSP00000322898:p.Ala278Val					EBF1_uc011ddw.1_Missense_Mutation_p.A146V|EBF1_uc011ddx.1_Missense_Mutation_p.A279V|EBF1_uc003lxl.3_Missense_Mutation_p.A247V	p.A278V	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1135	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	278			IPT/TIG.		Q8IW11	Missense_Mutation	SNP	ENST00000313708.6	37	c.833C>T	CCDS4343.1	.	.	.	.	.	.	.	.	.	.	G	35	5.445729	0.96187	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.76839	0.92;-1.05;-1.05	5.68	5.68	0.88126	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85703	0.5758	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	0.965;1.0;0.997;0.997	B;D;P;P	0.64144	0.26;0.922;0.603;0.622	D	0.86070	0.1537	10	0.87932	D	0	-5.4704	20.1615	0.98135	0.0:0.0:1.0:0.0	.	278;265;278;247	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	V	278;278;247;270	ENSP00000322898:A278V;ENSP00000370029:A247V;ENSP00000428020:A270V	ENSP00000322898:A278V	A	-	2	0	EBF1	158156007	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.813000	0.99286	2.835000	0.97688	0.650000	0.86243	GCG		0.463	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		8	89	0	0	0	0	8	89				
FLT4	2324	broad.mit.edu	37	5	180048861	180048861	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr5:180048861C>A	ENST00000261937.6	-	13	1779	c.1701G>T	c.(1699-1701)gaG>gaT	p.E567D	FLT4_ENST00000502649.1_Missense_Mutation_p.E567D|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.E567D	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	567	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTCTAGTAGCTCCTCGGATG	0.622																																					Colon(97;1075 1466 27033 27547 35871)	uc003mma.3		NA																	0				lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(1699-1701)GAG>GAT		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						82.0	91.0	88.0					5																	180048861		2203	4300	6503	SO:0001583	missense	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048861C>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1701G>T	5.37:g.180048861C>A	ENSP00000261937:p.Glu567Asp					FLT4_uc003mlz.3_Missense_Mutation_p.E567D|FLT4_uc003mmb.1_Missense_Mutation_p.E100D|FLT4_uc011dgy.1_Missense_Mutation_p.E567D	p.E567D	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	1780	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	567			Ig-like C2-type 6.|Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.1701G>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	5.637	0.302213	0.10678	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.12569	2.67;2.67;2.67	4.64	-0.845	0.10737	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07999	0.0200	N	0.25647	0.755	0.32378	N	0.554962	B;B;B;B	0.13145	0.007;0.0;0.001;0.001	B;B;B;B	0.13407	0.009;0.008;0.005;0.005	T	0.30534	-0.9975	9	0.29301	T	0.29	.	5.367	0.16119	0.3724:0.4455:0.1146:0.0676	.	567;377;567;567	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	D	567;567;567;377	ENSP00000261937:E567D;ENSP00000377016:E567D;ENSP00000426057:E567D	ENSP00000261937:E567D	E	-	3	2	FLT4	179981467	0.312000	0.24545	0.624000	0.29186	0.128000	0.20619	-0.333000	0.07894	-0.441000	0.07201	-0.224000	0.12420	GAG		0.622	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			11	97	1	0	0.00010058	0.000112498	11	97				
DST	667	broad.mit.edu	37	6	56504792	56504792	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:56504792G>T	ENST00000361203.3	-	15	1928	c.1921C>A	c.(1921-1923)Cat>Aat	p.H641N	DST_ENST00000370769.4_Missense_Mutation_p.H641N|DST_ENST00000370754.5_Missense_Mutation_p.H819N|DST_ENST00000244364.6_Missense_Mutation_p.H315N|DST_ENST00000518935.1_Missense_Mutation_p.H315N|DST_ENST00000312431.6_Missense_Mutation_p.H641N|DST_ENST00000370788.2_Missense_Mutation_p.H641N|DST_ENST00000446842.2_Missense_Mutation_p.H315N|DST_ENST00000370765.6_Missense_Mutation_p.H315N|DST_ENST00000421834.2_Missense_Mutation_p.H641N			Q03001	DYST_HUMAN	dystonin	641					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACATTTTTATGATTTTCTAAA	0.308																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(2455-2457)CAT>AAT		dystonin isoform 2							56.0	62.0	60.0					6																	56504792		2202	4300	6502	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56504792G>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1921C>A	6.37:g.56504792G>T	ENSP00000354508:p.His641Asn					DST_uc003pcz.3_Missense_Mutation_p.H641N|DST_uc011dxj.1_Missense_Mutation_p.H670N|DST_uc011dxk.1_Missense_Mutation_p.H681N|DST_uc011dxl.1_Missense_Mutation_p.H670N|DST_uc003pcy.3_Missense_Mutation_p.H315N|DST_uc003pdb.2_Missense_Mutation_p.H315N|DST_uc003pdc.3_Missense_Mutation_p.H315N|DST_uc003pdd.3_Missense_Mutation_p.H315N|DST_uc003pde.2_Missense_Mutation_p.H757N	p.H819N	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		18	2483	-	Lung NSC(77;0.103)		641					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.2455C>A		.	.	.	.	.	.	.	.	.	.	G	25.5	4.649146	0.87958	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	5.45	5.45	0.79879	.	0.000000	0.51477	D	0.000096	D	0.95723	0.8609	M	0.75615	2.305	0.30683	N	0.752173	D;P;D;P;D;D;D;D;P;D	0.89917	0.995;0.631;0.995;0.753;0.994;0.998;0.991;1.0;0.753;0.993	D;P;D;P;D;D;D;D;P;D	0.91635	0.993;0.513;0.993;0.513;0.952;0.989;0.972;0.999;0.688;0.991	D	0.95314	0.8414	9	0.66056	D	0.02	.	19.4735	0.94973	0.0:0.0:1.0:0.0	.	670;641;641;819;757;315;315;315;641;315	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	N	315;819;641;641;315;641;641;641;315;681;315;315	ENSP00000244364:H315N;ENSP00000359790:H819N;ENSP00000359805:H641N;ENSP00000400883:H641N;ENSP00000393645:H315N;ENSP00000307959:H641N;ENSP00000359824:H641N;ENSP00000354508:H641N;ENSP00000404924:H315N;ENSP00000431030:H681N;ENSP00000359801:H315N;ENSP00000431003:H315N	ENSP00000244364:H315N	H	-	1	0	DST	56612751	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.836000	0.97738	0.655000	0.94253	CAT		0.308	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		7	116	1	0	0.000157383	0.000175021	7	116				
DST	667	broad.mit.edu	37	6	56505116	56505116	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:56505116G>C	ENST00000361203.3	-	14	1689	c.1682C>G	c.(1681-1683)tCa>tGa	p.S561*	DST_ENST00000370769.4_Nonsense_Mutation_p.S561*|DST_ENST00000370754.5_Nonsense_Mutation_p.S739*|DST_ENST00000244364.6_Nonsense_Mutation_p.S235*|DST_ENST00000518935.1_Nonsense_Mutation_p.S235*|DST_ENST00000312431.6_Nonsense_Mutation_p.S561*|DST_ENST00000370788.2_Nonsense_Mutation_p.S561*|DST_ENST00000446842.2_Nonsense_Mutation_p.S235*|DST_ENST00000370765.6_Nonsense_Mutation_p.S235*|DST_ENST00000421834.2_Nonsense_Mutation_p.S561*			Q03001	DYST_HUMAN	dystonin	561					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACTAATCCTGATGGGAAACC	0.453																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(2215-2217)TCA>TGA		dystonin isoform 2							108.0	110.0	109.0					6																	56505116		2203	4300	6503	SO:0001587	stop_gained	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56505116G>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1682C>G	6.37:g.56505116G>C	ENSP00000354508:p.Ser561*					DST_uc003pcz.3_Nonsense_Mutation_p.S561*|DST_uc011dxj.1_Nonsense_Mutation_p.S590*|DST_uc011dxk.1_Nonsense_Mutation_p.S601*|DST_uc011dxl.1_Nonsense_Mutation_p.S590*|DST_uc003pcy.3_Nonsense_Mutation_p.S235*|DST_uc003pdb.2_Nonsense_Mutation_p.S235*|DST_uc003pdc.3_Nonsense_Mutation_p.S235*|DST_uc003pdd.3_Nonsense_Mutation_p.S235*|DST_uc003pde.2_Nonsense_Mutation_p.S677*	p.S739*	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		17	2244	-	Lung NSC(77;0.103)		561					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	ENST00000361203.3	37	c.2216C>G		.	.	.	.	.	.	.	.	.	.	G	21.2	4.120768	0.77436	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	.	.	.	5.53	4.67	0.58626	.	0.152597	0.30830	N	0.008790	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	14.3591	0.66757	0.0704:0.0:0.9296:0.0	.	.	.	.	X	235;739;561;561;235;561;561;561;235;601;235;235	.	ENSP00000244364:S235X	S	-	2	0	DST	56613075	1.000000	0.71417	0.996000	0.52242	0.925000	0.55904	8.675000	0.91195	1.566000	0.49654	0.655000	0.94253	TCA		0.453	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		9	140	0	0	0	0	9	140				
DST	667	broad.mit.edu	37	6	56505121	56505121	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:56505121G>T	ENST00000361203.3	-	14	1684	c.1677C>A	c.(1675-1677)ttC>ttA	p.F559L	DST_ENST00000370769.4_Missense_Mutation_p.F559L|DST_ENST00000370754.5_Missense_Mutation_p.F737L|DST_ENST00000244364.6_Missense_Mutation_p.F233L|DST_ENST00000518935.1_Missense_Mutation_p.F233L|DST_ENST00000312431.6_Missense_Mutation_p.F559L|DST_ENST00000370788.2_Missense_Mutation_p.F559L|DST_ENST00000446842.2_Missense_Mutation_p.F233L|DST_ENST00000370765.6_Missense_Mutation_p.F233L|DST_ENST00000421834.2_Missense_Mutation_p.F559L			Q03001	DYST_HUMAN	dystonin	559					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCCTGATGGGAAACCAGGTG	0.443																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(2209-2211)TTC>TTA		dystonin isoform 2							111.0	113.0	112.0					6																	56505121		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56505121G>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1677C>A	6.37:g.56505121G>T	ENSP00000354508:p.Phe559Leu					DST_uc003pcz.3_Missense_Mutation_p.F559L|DST_uc011dxj.1_Missense_Mutation_p.F588L|DST_uc011dxk.1_Missense_Mutation_p.F599L|DST_uc011dxl.1_Missense_Mutation_p.F588L|DST_uc003pcy.3_Missense_Mutation_p.F233L|DST_uc003pdb.2_Missense_Mutation_p.F233L|DST_uc003pdc.3_Missense_Mutation_p.F233L|DST_uc003pdd.3_Missense_Mutation_p.F233L|DST_uc003pde.2_Missense_Mutation_p.F675L	p.F737L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		17	2239	-	Lung NSC(77;0.103)		559					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.2211C>A		.	.	.	.	.	.	.	.	.	.	G	13.41	2.230016	0.39399	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;D;T;T;T;D;T;T	0.84298	1.08;-0.04;-0.04;0.14;0.84;-1.58;0.11;-0.07;-0.62;-1.83;-0.9;-0.35	5.65	0.399	0.16325	.	0.111324	0.40385	N	0.001115	T	0.68128	0.2967	N	0.22421	0.69	0.28064	N	0.932831	B;B;D;B;B;B;B;P;B;B	0.58268	0.0;0.0;0.982;0.0;0.001;0.0;0.111;0.928;0.0;0.0	B;B;D;B;B;B;B;P;B;B	0.67548	0.0;0.001;0.952;0.0;0.004;0.001;0.039;0.671;0.001;0.002	T	0.64071	-0.6493	9	0.10377	T	0.69	.	2.9642	0.05902	0.2657:0.1161:0.4993:0.1188	.	588;559;559;737;675;233;233;233;559;233	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	L	233;737;559;559;233;559;559;559;233;599;233;233	ENSP00000244364:F233L;ENSP00000359790:F737L;ENSP00000359805:F559L;ENSP00000400883:F559L;ENSP00000393645:F233L;ENSP00000307959:F559L;ENSP00000359824:F559L;ENSP00000354508:F559L;ENSP00000404924:F233L;ENSP00000431030:F599L;ENSP00000359801:F233L;ENSP00000431003:F233L	ENSP00000244364:F233L	F	-	3	2	DST	56613080	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	1.527000	0.35975	0.153000	0.19213	-0.181000	0.13052	TTC		0.443	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		11	141	1	0	2.62e-11	3.12e-11	11	141				
DST	667	broad.mit.edu	37	6	56505218	56505218	+	Missense_Mutation	SNP	G	G	A	rs556008632		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:56505218G>A	ENST00000361203.3	-	14	1587	c.1580C>T	c.(1579-1581)aCa>aTa	p.T527I	DST_ENST00000370769.4_Missense_Mutation_p.T527I|DST_ENST00000370754.5_Missense_Mutation_p.T705I|DST_ENST00000244364.6_Missense_Mutation_p.T201I|DST_ENST00000518935.1_Missense_Mutation_p.T201I|DST_ENST00000312431.6_Missense_Mutation_p.T527I|DST_ENST00000370788.2_Missense_Mutation_p.T527I|DST_ENST00000446842.2_Missense_Mutation_p.T201I|DST_ENST00000370765.6_Missense_Mutation_p.T201I|DST_ENST00000421834.2_Missense_Mutation_p.T527I			Q03001	DYST_HUMAN	dystonin	527					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAGGGAAGGTGTTAAACTCTG	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		19089	0.0		0.0	False		,,,				2504	0.001					uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(2113-2115)ACA>ATA		dystonin isoform 2							150.0	152.0	152.0					6																	56505218		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56505218G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1580C>T	6.37:g.56505218G>A	ENSP00000354508:p.Thr527Ile					DST_uc003pcz.3_Missense_Mutation_p.T527I|DST_uc011dxj.1_Missense_Mutation_p.T556I|DST_uc011dxk.1_Missense_Mutation_p.T567I|DST_uc011dxl.1_Missense_Mutation_p.T556I|DST_uc003pcy.3_Missense_Mutation_p.T201I|DST_uc003pdb.2_Missense_Mutation_p.T201I|DST_uc003pdc.3_Missense_Mutation_p.T201I|DST_uc003pdd.3_Missense_Mutation_p.T201I|DST_uc003pde.2_Missense_Mutation_p.T643I	p.T705I	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		17	2142	-	Lung NSC(77;0.103)		527					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.2114C>T		.	.	.	.	.	.	.	.	.	.	G	20.7	4.031776	0.75504	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	6.17	6.17	0.99709	.	0.000000	0.56097	D	0.000029	D	0.95705	0.8603	L	0.53249	1.67	0.33245	D	0.557694	P;P;D;P;D;P;D;D;P;B	0.89917	0.808;0.93;0.999;0.93;0.96;0.951;0.999;1.0;0.93;0.027	B;B;D;B;P;P;D;D;B;B	0.85130	0.261;0.216;0.991;0.216;0.748;0.447;0.974;0.997;0.216;0.019	D	0.94382	0.7605	9	0.49607	T	0.09	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	556;527;527;705;643;201;201;201;527;201	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	I	201;705;527;527;201;527;527;527;201;567;201;201	ENSP00000244364:T201I;ENSP00000359790:T705I;ENSP00000359805:T527I;ENSP00000400883:T527I;ENSP00000393645:T201I;ENSP00000307959:T527I;ENSP00000359824:T527I;ENSP00000354508:T527I;ENSP00000404924:T201I;ENSP00000431030:T567I;ENSP00000359801:T201I;ENSP00000431003:T201I	ENSP00000244364:T201I	T	-	2	0	DST	56613177	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	6.410000	0.73294	2.941000	0.99782	0.655000	0.94253	ACA		0.478	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		14	169	0	0	0	0	14	169				
RSPH4A	345895	broad.mit.edu	37	6	116949382	116949382	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:116949382G>C	ENST00000229554.5	+	3	1649	c.1512G>C	c.(1510-1512)caG>caC	p.Q504H	RSPH4A_ENST00000368581.4_Missense_Mutation_p.Q504H|RSPH4A_ENST00000368580.4_Intron	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	504					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GATTTTATCAGTTTGGTGAAG	0.453									Kartagener syndrome																													uc003pxe.2		NA																	0					0						c.(1510-1512)CAG>CAC		radial spoke head 4 homolog A isoform 1							69.0	73.0	71.0					6																	116949382		2203	4300	6503	SO:0001583	missense	345895	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116949382G>C		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1512G>C	6.37:g.116949382G>C	ENSP00000229554:p.Gln504His					RSPH4A_uc010kee.2_Missense_Mutation_p.Q504H	p.Q504H	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN			3	1657	+			504					B4DSI1|Q3KP24|Q5TD95	Missense_Mutation	SNP	ENST00000229554.5	37	c.1512G>C	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498866	0.26861	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000447842	T;T	0.18657	2.2;2.2	5.74	2.59	0.31030	.	0.362274	0.31909	N	0.006876	T	0.08133	0.0203	L	0.42245	1.32	0.45318	D	0.998316	B;B	0.21452	0.02;0.056	B;B	0.26202	0.042;0.067	T	0.06716	-1.0811	10	0.38643	T	0.18	-5.9509	9.3929	0.38383	0.0786:0.0:0.6428:0.2786	.	504;504	Q5TD94-3;Q5TD94	.;RSH4A_HUMAN	H	504;504;299	ENSP00000357570:Q504H;ENSP00000229554:Q504H	ENSP00000229554:Q504H	Q	+	3	2	RSPH4A	117056075	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.391000	0.44424	0.729000	0.32403	0.655000	0.94253	CAG		0.453	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		12	136	0	0	0	0	12	136				
SASH1	23328	broad.mit.edu	37	6	148865488	148865488	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:148865488A>G	ENST00000367467.3	+	18	3357	c.2882A>G	c.(2881-2883)cAc>cGc	p.H961R		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	961					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GAAGGAACACACCATCCCCTG	0.522																																						uc003qme.1		NA																	0				central_nervous_system(1)	1						c.(2881-2883)CAC>CGC		SAM and SH3 domain containing 1							81.0	83.0	82.0					6																	148865488		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148865488A>G	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2882A>G	6.37:g.148865488A>G	ENSP00000356437:p.His961Arg					SASH1_uc011eeb.1_Missense_Mutation_p.H722R|SASH1_uc003qmf.1_Missense_Mutation_p.H371R	p.H961R	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3357	+		Ovarian(120;0.0169)	961					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.2882A>G	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	A	9.310	1.055422	0.19907	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.35048	1.33	5.36	1.7	0.24286	.	1.525910	0.03663	N	0.242915	T	0.09512	0.0234	N	0.19112	0.55	0.09310	N	1	B;B	0.17667	0.011;0.023	B;B	0.14023	0.01;0.01	T	0.21965	-1.0230	10	0.33141	T	0.24	-0.1276	7.8524	0.29462	0.769:0.0:0.231:0.0	.	942;961	Q6P4R9;O94885	.;SASH1_HUMAN	R	961;371	ENSP00000356437:H961R	ENSP00000356437:H961R	H	+	2	0	SASH1	148907181	0.000000	0.05858	0.000000	0.03702	0.636000	0.38137	0.189000	0.17037	0.062000	0.16340	0.528000	0.53228	CAC		0.522	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		8	133	0	0	0	0	8	133				
SYNE1	23345	broad.mit.edu	37	6	152469388	152469388	+	Silent	SNP	A	A	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:152469388A>G	ENST00000367255.5	-	137	25369	c.24768T>C	c.(24766-24768)aaT>aaC	p.N8256N	SYNE1_ENST00000423061.1_Silent_p.N8185N|SYNE1_ENST00000341594.5_Silent_p.N7868N|SYNE1_ENST00000356820.4_Silent_p.N2780N|SYNE1_ENST00000539504.1_Silent_p.N411N|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Silent_p.N411N|SYNE1_ENST00000265368.4_Silent_p.N8256N|SYNE1_ENST00000448038.1_Silent_p.N8185N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8256					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAGGGAGAGATTGGAGGAAG	0.632										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(24766-24768)AAT>AAC		spectrin repeat containing, nuclear envelope 1							76.0	79.0	78.0					6																	152469388		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152469388A>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24768T>C	6.37:g.152469388A>G		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.N2780N|SYNE1_uc003qos.3_Silent_p.N2780N|SYNE1_uc003qot.3_Silent_p.N8185N|SYNE1_uc003qou.3_Silent_p.N8256N|SYNE1_uc003qop.3_Silent_p.N418N|SYNE1_uc011eez.1_Silent_p.N458N|SYNE1_uc003qoq.3_Silent_p.N458N|SYNE1_uc003qor.3_Silent_p.N1156N	p.N8256N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	137	25370	-		Ovarian(120;0.0955)	8256			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.24768T>C	CCDS5236.2																																																																																				0.632	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	85	0	0	0	0	6	85				
C6orf118	168090	broad.mit.edu	37	6	165715310	165715310	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr6:165715310G>A	ENST00000230301.8	-	2	521	c.501C>T	c.(499-501)ggC>ggT	p.G167G	C6orf118_ENST00000543069.1_Silent_p.G63G	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	167										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		ATCCAGGAGGGCCCCGTCCAG	0.627																																						uc003qum.3		NA																	0					0						c.(499-501)GGC>GGT		hypothetical protein LOC168090							39.0	46.0	43.0					6																	165715310		2203	4299	6502	SO:0001819	synonymous_variant	168090							g.chr6:165715310G>A		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.501C>T	6.37:g.165715310G>A						C6orf118_uc011egi.1_RNA	p.G167G	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	537	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	167					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.501C>T	CCDS5288.1																																																																																				0.627	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		8	156	0	0	0	0	8	156				
DAGLB	221955	broad.mit.edu	37	7	6449640	6449640	+	Missense_Mutation	SNP	T	T	C	rs138947170		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr7:6449640T>C	ENST00000297056.6	-	15	2016	c.1847A>G	c.(1846-1848)tAt>tGt	p.Y616C	DAGLB_ENST00000428902.2_3'UTR|DAGLB_ENST00000436575.1_Missense_Mutation_p.Y575C|DAGLB_ENST00000425398.2_Missense_Mutation_p.Y487C	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	616					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CTTGGCGCTATAGTGAGCAGC	0.597																																						uc003sqa.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1846-1848)TAT>TGT		diacylglycerol lipase, beta isoform 1		T	CYS/TYR,CYS/TYR	0,4406		0,0,2203	83.0	85.0	84.0		1460,1847	5.5	0.1	7	dbSNP_134	84	1,8599		0,1,4299	no	missense,missense	DAGLB	NM_001142936.1,NM_139179.3	194,194	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging	487/544,616/673	6449640	1,13005	2203	4300	6503	SO:0001583	missense	221955				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr7:6449640T>C	AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1847A>G	7.37:g.6449640T>C	ENSP00000297056:p.Tyr616Cys					DAGLB_uc003spy.2_Missense_Mutation_p.Y162C|DAGLB_uc003spz.2_Missense_Mutation_p.Y313C|DAGLB_uc011jwt.1_Missense_Mutation_p.Y430C|DAGLB_uc011jwu.1_Missense_Mutation_p.Y487C|DAGLB_uc003sqb.2_Missense_Mutation_p.Y335C|DAGLB_uc003sqc.2_Missense_Mutation_p.Y335C|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.Y575C	p.Y616C	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)	15	2017	-		Ovarian(82;0.232)	616			Cytoplasmic (Potential).		A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	ENST00000297056.6	37	c.1847A>G	CCDS5350.1	.	.	.	.	.	.	.	.	.	.	.	33	5.209574	0.95069	0.0	1.16E-4	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575	T;T;T	0.62364	0.03;0.3;0.04	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.81182	0.4769	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.987;0.985;0.98	D	0.84481	0.0605	10	0.72032	D	0.01	-35.0577	15.6604	0.77182	0.0:0.0:0.0:1.0	.	487;430;616;313	B4DQU0;B4DQQ6;Q8NCG7;B3KRA0	.;.;DGLB_HUMAN;.	C	616;487;575	ENSP00000297056:Y616C;ENSP00000391171:Y487C;ENSP00000404785:Y575C	ENSP00000297056:Y616C	Y	-	2	0	DAGLB	6416165	1.000000	0.71417	0.122000	0.21767	0.949000	0.60115	5.701000	0.68325	2.095000	0.63458	0.528000	0.53228	TAT		0.597	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246840.2	NM_139179		7	100	0	0	0	0	7	100				
BMPER	168667	broad.mit.edu	37	7	34097738	34097738	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr7:34097738G>A	ENST00000297161.2	+	11	1369	c.995G>A	c.(994-996)cGc>cAc	p.R332H	BMPER_ENST00000426693.1_Missense_Mutation_p.R332H	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	332	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.R332H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACGGAGTGTCGCAATAAGCAG	0.493																																						uc011kap.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|central_nervous_system(1)	3						c.(994-996)CGC>CAC		BMP-binding endothelial regulator precursor							280.0	210.0	234.0					7																	34097738		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34097738G>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.995G>A	7.37:g.34097738G>A	ENSP00000297161:p.Arg332His						p.R332H	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			10	1109	+			332			VWFC 5.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.995G>A	CCDS5442.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766146	0.49574	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.72615	-0.67;-0.67	5.63	0.752	0.18398	von Willebrand factor, type C (4);	0.235946	0.45606	D	0.000346	T	0.55970	0.1954	L	0.33293	1	0.45477	D	0.998448	B	0.18166	0.026	B	0.12156	0.007	T	0.48139	-0.9061	10	0.44086	T	0.13	.	10.6665	0.45734	0.3263:0.0:0.6737:0.0	.	332	Q8N8U9	BMPER_HUMAN	H	332	ENSP00000297161:R332H;ENSP00000393950:R332H	ENSP00000297161:R332H	R	+	2	0	BMPER	34064263	1.000000	0.71417	0.983000	0.44433	0.974000	0.67602	2.282000	0.43461	0.140000	0.18849	-0.136000	0.14681	CGC		0.493	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		8	86	0	0	0	0	8	86				
KIAA1549	57670	broad.mit.edu	37	7	138602370	138602370	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr7:138602370C>T	ENST00000422774.1	-	2	2050	c.2002G>A	c.(2002-2004)Gag>Aag	p.E668K	KIAA1549_ENST00000440172.1_Missense_Mutation_p.E668K|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E618K			Q9HCM3	K1549_HUMAN	KIAA1549	668	Ser-rich.					integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTAAATGTCTCAACCAAGGGA	0.502			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1		NA		Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	0				central_nervous_system(229)|pancreas(1)	230						c.(2002-2004)GAG>AAG		hypothetical protein LOC57670 isoform 1							44.0	44.0	44.0					7																	138602370		1976	4161	6137	SO:0001583	missense	57670					integral to membrane		g.chr7:138602370C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.2002G>A	7.37:g.138602370C>T	ENSP00000416040:p.Glu668Lys					KIAA1549_uc003vuk.3_Missense_Mutation_p.E618K|KIAA1549_uc011kqj.1_Missense_Mutation_p.E668K	p.E668K	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			2	2051	-			668			Ser-rich.		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.2002G>A	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429947	0.43122	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.25912	1.77;1.78;1.77	4.25	4.25	0.50352	.	0.781674	0.11078	N	0.602187	T	0.20333	0.0489	L	0.32530	0.975	0.09310	N	1	B;B	0.32829	0.267;0.386	B;B	0.34242	0.086;0.178	T	0.08391	-1.0724	10	0.08381	T	0.77	.	13.952	0.64123	0.0:1.0:0.0:0.0	.	668;668	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	K	668;618;668	ENSP00000406661:E668K;ENSP00000242365:E618K;ENSP00000416040:E668K	ENSP00000242365:E618K	E	-	1	0	KIAA1549	138252910	0.003000	0.15002	0.003000	0.11579	0.026000	0.11368	1.744000	0.38268	2.212000	0.71576	0.591000	0.81541	GAG		0.502	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			3	24	0	0	0	0	3	24				
DNAJB6	10049	broad.mit.edu	37	7	157160131	157160131	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr7:157160131C>T	ENST00000262177.4	+	5	505	c.300C>T	c.(298-300)ttC>ttT	p.F100F	DNAJB6_ENST00000452797.2_Silent_p.F51F|DNAJB6_ENST00000429029.2_Silent_p.F100F|DNAJB6_ENST00000443280.1_Silent_p.F100F	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	100	Gly/Phe-rich.|Interaction with HSP70.				intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ATGATGTCTTCAGGGAATTTT	0.408																																					Esophageal Squamous(46;195 967 1350 20350 43814)	uc003wnk.2		NA																	0				ovary(2)	2						c.(298-300)TTC>TTT		DnaJ (Hsp40) homolog, subfamily B, member 6							142.0	134.0	137.0					7																	157160131		2203	4298	6501	SO:0001819	synonymous_variant	10049				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding	g.chr7:157160131C>T	AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"""Heat shock proteins / DNAJ (HSP40)"""	14888	protein-coding gene	gene with protein product		611332	"""limb girdle muscular dystrophy 1D (autosomal dominant)"""	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.300C>T	7.37:g.157160131C>T						DNAJB6_uc003wnj.2_Silent_p.F100F|DNAJB6_uc003wnl.2_Silent_p.F87F|DNAJB6_uc011kvy.1_Silent_p.F51F|DNAJB6_uc011kvz.1_Silent_p.F100F|DNAJB6_uc010lqt.2_Silent_p.F100F	p.F100F	NM_058246	NP_490647	O75190	DNJB6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	5	454	+	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	100			Gly/Phe-rich.|Interaction with HSP70.		A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Silent	SNP	ENST00000262177.4	37	c.300C>T	CCDS5946.1																																																																																				0.408	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000348119.2			18	242	0	0	0	0	18	242				
CYP7A1	1581	broad.mit.edu	37	8	59409510	59409510	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:59409510G>A	ENST00000301645.3	-	3	698	c.561C>T	c.(559-561)atC>atT	p.I187I		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	187					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CTCTGCCAAAGATAGTTAAAT	0.453									Neonatal Giant Cell Hepatitis																													uc003xtm.3		NA																	0				ovary(1)	1						c.(559-561)ATC>ATT		cytochrome P450, family 7, subfamily A,							138.0	132.0	134.0					8																	59409510		2203	4300	6503	SO:0001819	synonymous_variant	1581	Neonatal_Giant_Cell_Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59409510G>A	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.561C>T	8.37:g.59409510G>A							p.I187I	NM_000780	NP_000771	P22680	CP7A1_HUMAN			3	624	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	187					P78454|Q3MIL8|Q7KZ19	Silent	SNP	ENST00000301645.3	37	c.561C>T	CCDS6171.1																																																																																				0.453	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		28	218	0	0	0	0	28	218				
PREX2	80243	broad.mit.edu	37	8	69021852	69021852	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:69021852T>G	ENST00000288368.4	+	25	3417	c.3140T>G	c.(3139-3141)aTa>aGa	p.I1047R		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1047					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTTTGTCAAATAGATGAGTAA	0.348																																						uc003xxv.1		NA																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(3139-3141)ATA>AGA		DEP domain containing 2 isoform a							106.0	105.0	105.0					8																	69021852		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69021852T>G	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3140T>G	8.37:g.69021852T>G	ENSP00000288368:p.Ile1047Arg					PREX2_uc011lez.1_Missense_Mutation_p.I982R	p.I1047R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			25	3167	+			1047					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.3140T>G	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161399	0.78226	.	.	ENSG00000046889	ENST00000288368	T	0.70631	-0.5	5.72	4.56	0.56223	.	.	.	.	.	T	0.80979	0.4728	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81861	-0.0738	9	0.87932	D	0	.	11.8487	0.52399	0.0:0.0686:0.0:0.9314	.	1047	Q70Z35	PREX2_HUMAN	R	1047	ENSP00000288368:I1047R	ENSP00000288368:I1047R	I	+	2	0	PREX2	69184406	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.790000	0.69038	0.992000	0.38840	0.533000	0.62120	ATA		0.348	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		34	99	0	0	0	0	34	99				
FER1L6	654463	broad.mit.edu	37	8	125076788	125076788	+	Nonsense_Mutation	SNP	G	G	T	rs373998218		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:125076788G>T	ENST00000522917.1	+	26	3735	c.3529G>T	c.(3529-3531)Gag>Tag	p.E1177*	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.E1177*	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1177						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGTAGCCCAGGAGCCACCAAA	0.527																																						uc003yqw.2		NA																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(3529-3531)GAG>TAG		fer-1-like 6							62.0	65.0	64.0					8																	125076788		1941	4145	6086	SO:0001587	stop_gained	654463					integral to membrane		g.chr8:125076788G>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3529G>T	8.37:g.125076788G>T	ENSP00000428280:p.Glu1177*					uc003yqy.1_Intron	p.E1177*	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		26	3735	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1177			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000522917.1	37	c.3529G>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	38	7.170043	0.98111	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	.	.	.	4.99	3.18	0.36537	.	1.396020	0.05436	U	0.546912	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-6.5295	8.8012	0.34909	0.1496:0.0:0.8504:0.0	.	.	.	.	X	1177	.	ENSP00000381982:E1177X	E	+	1	0	FER1L6	125145969	0.183000	0.23186	0.005000	0.12908	0.066000	0.16364	2.468000	0.45102	0.515000	0.28320	0.462000	0.41574	GAG		0.527	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		7	120	1	0	0.000274275	0.000302406	7	120				
TATDN1	83940	broad.mit.edu	37	8	125498931	125498931	+	IGR	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:125498931G>A	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Silent_p.E347E|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GACCAGAAGAGAGACTTATTC	0.413																																						uc003yrc.2		NA																	0				kidney(1)	1						c.(1039-1041)GAG>GAA		ring finger protein 139							165.0	164.0	164.0					8																	125498931		2203	4300	6503	SO:0001628	intergenic_variant	11236	Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3			negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125498931G>A	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498931G>A							p.E347E	NM_007218	NP_009149	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	1384	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		347					B2R5J0|Q8TD02|Q9BY40	Silent	SNP	ENST00000276692.6	37	c.1041G>A	CCDS6351.1																																																																																				0.413	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		50	350	0	0	0	0	50	350				
ADCY8	114	broad.mit.edu	37	8	131880122	131880122	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:131880122G>A	ENST00000286355.5	-	9	4272	c.2180C>T	c.(2179-2181)aCg>aTg	p.T727M	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	727					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTGTATTGCCGTGATAAATAG	0.353										HNSCC(32;0.087)																												uc003ytd.3		NA																	0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2179-2181)ACG>ATG		adenylate cyclase 8							97.0	88.0	91.0					8																	131880122		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131880122G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2180C>T	8.37:g.131880122G>A	ENSP00000286355:p.Thr727Met	HNSCC(32;0.087)				ADCY8_uc010mds.2_Intron	p.T727M	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		9	2436	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		727			Helical; (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.2180C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704314	0.48412	.	.	ENSG00000155897	ENST00000286355	T	0.46063	0.88	5.9	5.9	0.94986	.	0.047328	0.85682	D	0.000000	T	0.28797	0.0714	N	0.20530	0.585	0.80722	D	1	B	0.31077	0.307	B	0.16289	0.015	T	0.04427	-1.0952	10	0.33141	T	0.24	.	17.776	0.88508	0.0:0.0:1.0:0.0	.	727	P40145	ADCY8_HUMAN	M	727	ENSP00000286355:T727M	ENSP00000286355:T727M	T	-	2	0	ADCY8	131949304	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.131000	0.77243	2.806000	0.96561	0.655000	0.94253	ACG		0.353	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			18	113	0	0	0	0	18	113				
OC90	729330	broad.mit.edu	37	8	133062085	133062085	+	Intron	SNP	G	G	C	rs368121610		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:133062085G>C	ENST00000443356.2	-	3	133				OC90_ENST00000262283.5_Intron|OC90_ENST00000603859.1_Intron|OC90_ENST00000254627.3_Intron			Q02509	OC90_HUMAN	otoconin 90						lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TGGCTGTAATGTATCACAGAT	0.408																																						uc003ytg.2		NA																	0				ovary(2)|skin(1)	3						c.(31-33)ACA>AGA		otoconin 90							140.0	132.0	134.0					8																	133062085		1952	4155	6107	SO:0001627	intron_variant	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133062085G>C	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.47-3955C>G	8.37:g.133062085G>C						OC90_uc011lix.1_Intron	p.T11R	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		1	32	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		Error:Variant_position_missing_in_Q02509_after_alignment					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.32C>G																																																																																					0.408	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		8	162	0	0	0	0	8	162				
FAM135B	51059	broad.mit.edu	37	8	139380208	139380208	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr8:139380208T>G	ENST00000395297.1	-	2	189	c.19A>C	c.(19-21)Acg>Ccg	p.T7P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	7										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AACTCAACCGTTCCTTGTATT	0.378										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(19-21)ACG>CCG		hypothetical protein LOC51059							157.0	148.0	151.0					8																	139380208		1867	4099	5966	SO:0001583	missense	51059							g.chr8:139380208T>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.19A>C	8.37:g.139380208T>G	ENSP00000378710:p.Thr7Pro	HNSCC(54;0.14)				FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	p.T7P	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		2	190	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		7					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.19A>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	24.6	4.549089	0.86127	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.20069	2.1	5.54	5.54	0.83059	.	0.000000	0.56097	U	0.000036	T	0.49423	0.1556	M	0.80982	2.52	0.54753	D	0.999984	D	0.89917	1.0	D	0.85130	0.997	T	0.54497	-0.8285	10	0.87932	D	0	-6.9479	14.7815	0.69772	0.0:0.0:0.0:1.0	.	7	Q49AJ0	F135B_HUMAN	P	7	ENSP00000378710:T7P	ENSP00000160713:T7P	T	-	1	0	FAM135B	139449390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.392000	0.79840	2.234000	0.73211	0.459000	0.35465	ACG		0.378	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		18	201	0	0	0	0	18	201				
ZCCHC6	79670	broad.mit.edu	37	9	88940312	88940312	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr9:88940312G>A	ENST00000375963.3	-	12	1898	c.1726C>T	c.(1726-1728)Cgt>Tgt	p.R576C	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.R576C|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R453C	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	576	PAP-associated 1.				RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCTTTGACACGAATACTTATC	0.423																																						uc004aoq.2		NA																	0				ovary(2)	2						c.(1726-1728)CGT>TGT		zinc finger, CCHC domain containing 6							97.0	94.0	95.0					9																	88940312		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88940312G>A	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.1726C>T	9.37:g.88940312G>A	ENSP00000365130:p.Arg576Cys					ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.R453C|ZCCHC6_uc004aou.2_Missense_Mutation_p.R576C	p.R576C	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			12	1941	-			576			PAP-associated 1.		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.1726C>T	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329111	0.81690	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	D;D;D	0.81996	-1.56;-1.56;-1.56	5.1	5.1	0.69264	PAP/25A-associated (1);	0.000000	0.85682	D	0.000000	D	0.91081	0.7193	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91848	0.5489	10	0.87932	D	0	-5.2788	18.7148	0.91671	0.0:0.0:1.0:0.0	.	453;576	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	C	453;576;576	ENSP00000365127:R453C;ENSP00000365128:R576C;ENSP00000365130:R576C	ENSP00000365127:R453C	R	-	1	0	ZCCHC6	88130132	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.985000	0.93487	2.658000	0.90341	0.650000	0.86243	CGT		0.423	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		4	137	0	0	0	0	4	137				
C9orf47	286223	broad.mit.edu	37	9	91605992	91605992	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr9:91605992C>G	ENST00000334490.5	+	1	150	c.82C>G	c.(82-84)Cga>Gga	p.R28G	C9orf47_ENST00000375850.3_Missense_Mutation_p.R28G|C9orf47_ENST00000375851.2_Missense_Mutation_p.R28G|S1PR3_ENST00000358157.2_5'Flank			Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	28						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						GCTGTCAGGGCGACAGGCGCC	0.567																																						uc004aqd.2		NA																	0					0						c.(82-84)CGA>GGA		hypothetical protein LOC286223 isoform 1							23.0	23.0	23.0					9																	91605992		2203	4300	6503	SO:0001583	missense	286223					extracellular region		g.chr9:91605992C>G	AK094842	CCDS35062.1, CCDS47989.1	9q22.1	2008-02-05	2004-11-04		ENSG00000186354	ENSG00000186354			23669	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 108"""	C9orf108			Standard	NM_001001938		Approved	FLJ37523, bA791O21.3	uc004aqc.2	Q6ZRZ4	OTTHUMG00000020172	ENST00000334490.5:c.82C>G	9.37:g.91605992C>G	ENSP00000335616:p.Arg28Gly					S1PR3_uc004aqe.2_5'Flank|C9orf47_uc004aqc.1_Missense_Mutation_p.R28G	p.R28G	NM_001001938	NP_001001938	Q6ZRZ4	CI047_HUMAN			1	215	+			28					B7ZMC7|Q5SQD7|Q7Z568|Q8N1V4	Missense_Mutation	SNP	ENST00000334490.5	37	c.82C>G	CCDS35062.1	.	.	.	.	.	.	.	.	.	.	C	8.031	0.761672	0.15914	.	.	ENSG00000186354	ENST00000375851;ENST00000375850;ENST00000334490	.	.	.	1.33	-1.73	0.08081	.	.	.	.	.	T	0.15652	0.0377	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.18650	-1.0330	8	0.87932	D	0	.	3.0091	0.06038	0.275:0.3698:0.3552:0.0	.	28;28	Q6ZRZ4;Q6ZRZ4-2	CI047_HUMAN;.	G	28	.	ENSP00000335616:R28G	R	+	1	2	C9orf47	90795812	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.144000	0.10280	-0.501000	0.06605	0.313000	0.20887	CGA		0.567	C9orf47-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355972.1	NM_182599		7	50	0	0	0	0	7	50				
PTCH1	5727	broad.mit.edu	37	9	98209663	98209663	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr9:98209663G>A	ENST00000331920.6	-	23	4174	c.3875C>T	c.(3874-3876)tCc>tTc	p.S1292F	PTCH1_ENST00000430669.2_Missense_Mutation_p.S1226F|PTCH1_ENST00000437951.1_Missense_Mutation_p.S1226F|PTCH1_ENST00000429896.2_Missense_Mutation_p.S1141F|PTCH1_ENST00000375274.2_Missense_Mutation_p.S1291F|PTCH1_ENST00000418258.1_Missense_Mutation_p.S1141F|PTCH1_ENST00000421141.1_Missense_Mutation_p.S1141F	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1292					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGGAGGCAGGGACCCTGAGTC	0.652																																						uc004avk.3		NA																	0		p.S1292F(1)		skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(3874-3876)TCC>TTC		patched isoform L							47.0	59.0	55.0					9																	98209663		2179	4278	6457	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98209663G>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3875C>T	9.37:g.98209663G>A	ENSP00000332353:p.Ser1292Phe					PTCH1_uc010mrn.2_Missense_Mutation_p.S84F|PTCH1_uc010mro.2_Missense_Mutation_p.S1141F|PTCH1_uc010mrp.2_Missense_Mutation_p.S1141F|PTCH1_uc010mrq.2_Missense_Mutation_p.S1141F|PTCH1_uc004avl.3_Missense_Mutation_p.S1141F|PTCH1_uc010mrr.2_Missense_Mutation_p.S1226F|PTCH1_uc004avm.3_Missense_Mutation_p.S1291F	p.S1292F	NM_000264	NP_000255	Q13635	PTC1_HUMAN			23	4063	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1292			Cytoplasmic (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.3875C>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137207	0.37728	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000375284;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90504	-2.67;-2.67;-2.65;-2.65;-2.67;-2.65;-2.68	4.84	3.95	0.45737	.	0.909634	0.09570	N	0.784300	D	0.85256	0.5655	N	0.22421	0.69	0.30027	N	0.813821	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.78974	-0.1992	10	0.62326	D	0.03	-4.243	13.0339	0.58859	0.0775:0.0:0.9225:0.0	.	1226;1291;1292	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	F	1292;1226;1141;1141;1226;84;1141;1291	ENSP00000332353:S1292F;ENSP00000389744:S1226F;ENSP00000399981:S1141F;ENSP00000396135:S1141F;ENSP00000410287:S1226F;ENSP00000414823:S1141F;ENSP00000364423:S1291F	ENSP00000332353:S1292F	S	-	2	0	PTCH1	97249484	0.999000	0.42202	0.910000	0.35882	0.826000	0.46750	4.003000	0.57061	1.274000	0.44362	0.643000	0.83706	TCC		0.652	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		15	184	0	0	0	0	15	184				
CAMSAP1	157922	broad.mit.edu	37	9	138714638	138714638	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr9:138714638G>A	ENST00000389532.4	-	11	1933	c.1869C>T	c.(1867-1869)atC>atT	p.I623I	CAMSAP1_ENST00000409386.3_Silent_p.I634I|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Silent_p.I345I	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	623					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TCCTAGACACGATGCTCCTCG	0.547																																						uc004cgr.3		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1867-1869)ATC>ATT		calmodulin regulated spectrin-associated protein							64.0	70.0	68.0					9																	138714638		2203	4300	6503	SO:0001819	synonymous_variant	157922					cytoplasm|microtubule		g.chr9:138714638G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1869C>T	9.37:g.138714638G>A						CAMSAP1_uc004cgq.3_Silent_p.I513I|CAMSAP1_uc010nbg.2_Silent_p.I345I	p.I623I	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	1869	-			623					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	c.1869C>T	CCDS35176.2																																																																																				0.547	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		11	138	0	0	0	0	11	138				
P2RY10	27334	broad.mit.edu	37	X	78217001	78217001	+	Silent	SNP	C	C	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chrX:78217001C>T	ENST00000171757.2	+	4	1264	c.984C>T	c.(982-984)ctC>ctT	p.L328L	P2RY10_ENST00000544091.1_Silent_p.L328L	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	328						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GCTCCCGCCTCATGAGCAAGG	0.438																																						uc004ede.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(982-984)CTC>CTT		G-protein coupled purinergic receptor P2Y10							92.0	90.0	91.0					X																	78217001		2203	4300	6503	SO:0001819	synonymous_variant	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78217001C>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.984C>T	X.37:g.78217001C>T						P2RY10_uc004edf.2_Silent_p.L328L	p.L328L	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	1353	+			328			Cytoplasmic (Potential).		D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	37	c.984C>T	CCDS14442.1																																																																																				0.438	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			18	119	0	0	0	0	18	119				
CLDN2	9075	broad.mit.edu	37	X	106171760	106171760	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chrX:106171760G>C	ENST00000541806.1	+	2	821	c.302G>C	c.(301-303)gGc>gCc	p.G101A	CLDN2_ENST00000540876.1_Missense_Mutation_p.G101A|CLDN2_ENST00000336803.1_Missense_Mutation_p.G101A	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	101					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCTGTGGTGGGCATGAGATGC	0.572																																						uc004emq.1		NA																	0				ovary(1)	1						c.(301-303)GGC>GCC		claudin 2							134.0	107.0	116.0					X																	106171760		2203	4300	6503	SO:0001583	missense	9075				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chrX:106171760G>C	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.302G>C	X.37:g.106171760G>C	ENSP00000441283:p.Gly101Ala					MORC4_uc004emp.3_Intron|CLDN2_uc004emt.1_Missense_Mutation_p.G101A	p.G101A	NM_020384	NP_065117	P57739	CLD2_HUMAN			2	821	+			101			Helical; (Potential).		B2R6B9	Missense_Mutation	SNP	ENST00000541806.1	37	c.302G>C	CCDS14524.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843013	0.71488	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.90955	-2.76;-2.76;-2.76	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.95538	0.8550	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95899	0.8913	10	0.59425	D	0.04	.	15.266	0.73663	0.0:0.0:1.0:0.0	.	101	P57739	CLD2_HUMAN	A	101	ENSP00000441283:G101A;ENSP00000443230:G101A;ENSP00000336571:G101A	ENSP00000336571:G101A	G	+	2	0	CLDN2	106058416	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.807000	0.99171	2.195000	0.70347	0.523000	0.50628	GGC		0.572	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			16	96	0	0	0	0	16	96				
SLC25A5	292	broad.mit.edu	37	X	118604391	118604391	+	Silent	SNP	G	G	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chrX:118604391G>A	ENST00000317881.8	+	3	770	c.654G>A	c.(652-654)caG>caA	p.Q218Q	SLC25A5-AS1_ENST00000446986.1_RNA|SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	218					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	TGATCGCACAGACTGTCACTG	0.488																																						uc004erh.3		NA																	0				ovary(1)	1						c.(652-654)CAG>CAA		adenine nucleotide translocator 2	Clodronate(DB00720)						92.0	77.0	82.0					X																	118604391		2203	4300	6503	SO:0001819	synonymous_variant	292				chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding	g.chrX:118604391G>A	BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"""Solute carriers"""	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.654G>A	X.37:g.118604391G>A						LOC100303728_uc004ere.1_5'Flank|LOC100303728_uc004erg.1_5'Flank	p.Q218Q	NM_001152	NP_001143	P05141	ADT2_HUMAN			3	770	+			218			Helical; Name=5; (By similarity).|Solcar 3.		B2RCV1|O43350	Silent	SNP	ENST00000317881.8	37	c.654G>A	CCDS14578.1																																																																																				0.488	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152		15	72	0	0	0	0	15	72				
AFF2	2334	broad.mit.edu	37	X	147743550	147743550	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chrX:147743550C>A	ENST00000370460.2	+	3	781	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	AFF2_ENST00000370458.1_Missense_Mutation_p.S97Y|AFF2_ENST00000342251.3_Missense_Mutation_p.S97Y|AFF2_ENST00000370457.5_Missense_Mutation_p.S97Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	101					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAGAATTCTGTGCCCCAG	0.403																																						uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(301-303)TCT>TAT		fragile X mental retardation 2							142.0	144.0	143.0					X																	147743550		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147743550C>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.302C>A	X.37:g.147743550C>A	ENSP00000359489:p.Ser101Tyr					AFF2_uc004fco.2_Missense_Mutation_p.S97Y|AFF2_uc004fcq.2_Missense_Mutation_p.S97Y|AFF2_uc004fcr.2_Missense_Mutation_p.S97Y|AFF2_uc011mxb.1_Missense_Mutation_p.S101Y|AFF2_uc004fcs.2_Missense_Mutation_p.S97Y	p.S101Y	NM_002025	NP_002016	P51816	AFF2_HUMAN			3	781	+	Acute lymphoblastic leukemia(192;6.56e-05)		101					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.302C>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091076	0.55968	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.63	5.63	0.86233	.	0.186878	0.46758	D	0.000266	T	0.77980	0.4212	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.997	D;D;D;D;D;P	0.91635	0.999;0.999;0.999;0.999;0.999;0.905	T	0.79617	-0.1729	10	0.72032	D	0.01	.	18.7174	0.91680	0.0:1.0:0.0:0.0	.	101;97;97;97;101;97	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	Y	101;97;97;97	ENSP00000359489:S101Y;ENSP00000359486:S97Y;ENSP00000345459:S97Y;ENSP00000359487:S97Y	ENSP00000345459:S97Y	S	+	2	0	AFF2	147551242	0.999000	0.42202	0.993000	0.49108	0.997000	0.91878	4.132000	0.57977	2.365000	0.80145	0.600000	0.82982	TCT		0.403	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		29	170	1	0	7.38e-10	8.74e-10	29	170				
SLC2A5	6518	broad.mit.edu	37	1	9129568	9129568	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:9129568delC	ENST00000377424.4	-	1	207	c.28delG	c.(28-30)gaafs	p.E10fs	SLC2A5_ENST00000377414.3_Frame_Shift_Del_p.E10fs|SLC2A5_ENST00000535586.1_5'UTR	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	10					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTCACCCCTTCCTTCATGCTC	0.587																																						uc001apo.2		NA																	0				pancreas(2)|ovary(1)	3						c.(28-30)GAAfs		solute carrier family 2 (facilitated							236.0	208.0	218.0					1																	9129568		2203	4300	6503	SO:0001589	frameshift_variant	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9129568delC	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.28delG	1.37:g.9129568delC	ENSP00000366641:p.Glu10fs					SLC2A5_uc010nzz.1_5'UTR|SLC2A5_uc010oaa.1_5'UTR|SLC2A5_uc010oab.1_Frame_Shift_Del_p.E10fs|SLC2A5_uc010oac.1_Frame_Shift_Del_p.E10fs|SLC2A5_uc001app.3_Frame_Shift_Del_p.E10fs	p.E10fs	NM_003039	NP_003030	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	1	320	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	10			Cytoplasmic (Potential).		Q14770|Q5T977|Q8IVB3	Frame_Shift_Del	DEL	ENST00000377424.4	37	c.28delG	CCDS99.1																																																																																				0.587	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		38	483	NA	NA	NA	NA	38	483	---	---	---	---
SOAT1	6646	broad.mit.edu	37	1	179310294	179310295	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:179310294_179310295insT	ENST00000367619.3	+	7	772_773	c.629_630insT	c.(628-633)tatagcfs	p.S211fs	SOAT1_ENST00000540564.1_Frame_Shift_Ins_p.S153fs|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Frame_Shift_Ins_p.S146fs	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	211					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GCCACTGGCTATAGCAAGAGTT	0.431																																						uc001gml.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(628-630)TATfs		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)																																			SO:0001589	frameshift_variant	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179310294_179310295insT	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.630dupT	1.37:g.179310295_179310295dupT	ENSP00000356591:p.Ser211fs					SOAT1_uc010pni.1_Frame_Shift_Ins_p.Y145fs|SOAT1_uc001gmm.2_Frame_Shift_Ins_p.Y152fs|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Frame_Shift_Ins_p.Y145fs	p.Y210fs	NM_003101	NP_003092	P35610	SOAT1_HUMAN			7	692_693	+			210					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Frame_Shift_Ins	INS	ENST00000367619.3	37	c.629_630insT	CCDS1330.1																																																																																				0.431	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		35	486	NA	NA	NA	NA	35	486	---	---	---	---
C1orf35	79169	broad.mit.edu	37	1	228288853	228288854	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr1:228288853_228288854insT	ENST00000272139.4	-	8	1004_1005	c.770_771insA	c.(769-771)catfs	p.H257fs	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	257							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				AGCCTCTGTCATGCCACCTGCG	0.634																																						uc001hrx.2		NA																	0					0						c.(769-771)CATfs		hypothetical protein LOC79169																																				SO:0001589	frameshift_variant	79169							g.chr1:228288853_228288854insT	AY137773	CCDS1566.1	1q42.13	2012-06-25			ENSG00000143793	ENSG00000143793			19032	protein-coding gene	gene with protein product	"""multiple myeloma tumor-associated protein 2"""					12545221	Standard	NM_024319		Approved	MGC4174, MMTAG2	uc001hrx.3	Q9BU76	OTTHUMG00000037793	ENST00000272139.4:c.771dupA	1.37:g.228288854_228288854dupT	ENSP00000272139:p.His257fs					C1orf35_uc009xew.2_RNA	p.H257fs	NM_024319	NP_077295	Q9BU76	MMTA2_HUMAN			8	864_865	-		Prostate(94;0.0488)	257					Q6P5Y0|Q6ZTZ6|Q6ZWA6|Q8IZH3	Frame_Shift_Ins	INS	ENST00000272139.4	37	c.770_771insA	CCDS1566.1																																																																																				0.634	C1orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092245.1	NM_024319		12	116	NA	NA	NA	NA	12	116	---	---	---	---
TTC17	55761	broad.mit.edu	37	11	43413095	43413096	+	Frame_Shift_Ins	INS	-	-	A	rs138517922		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr11:43413095_43413096insA	ENST00000039989.4	+	4	514_515	c.500_501insA	c.(499-504)ccatatfs	p.Y168fs	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Frame_Shift_Ins_p.Y168fs	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	168					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTAGAACTTCCATATAGTATAC	0.356																																						uc001mxi.2		NA																	0				ovary(5)	5						c.(499-501)CCAfs		tetratricopeptide repeat domain 17																																				SO:0001589	frameshift_variant	55761						binding	g.chr11:43413095_43413096insA	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.501dupA	11.37:g.43413096_43413096dupA	ENSP00000039989:p.Tyr168fs					TTC17_uc001mxh.2_Frame_Shift_Ins_p.P167fs|TTC17_uc010rfj.1_Frame_Shift_Ins_p.P110fs	p.P167fs	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			4	514_515	+			167					G3XAB3|Q8NEC0	Frame_Shift_Ins	INS	ENST00000039989.4	37	c.500_501insA	CCDS31466.1																																																																																				0.356	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		20	127	NA	NA	NA	NA	20	127	---	---	---	---
XPOT	11260	broad.mit.edu	37	12	64812755	64812755	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr12:64812755delT	ENST00000332707.5	+	6	899	c.370delT	c.(370-372)tttfs	p.F126fs		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	126	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.F126fs*6(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GTGGCCCAAGTTTTTTTTTGA	0.443																																						uc001ssb.2		NA																	1	Deletion - Frameshift(1)		large_intestine(1)	ovary(2)	2						c.(370-372)TTTfs		tRNA exportin							118.0	114.0	115.0					12																	64812755		2203	4300	6503	SO:0001589	frameshift_variant	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64812755delT	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.370delT	12.37:g.64812755delT	ENSP00000327821:p.Phe126fs					XPOT_uc009zqm.1_Frame_Shift_Del_p.F34fs	p.F124fs	NM_007235	NP_009166	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	6	796	+			124			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Frame_Shift_Del	DEL	ENST00000332707.5	37	c.370delT	CCDS31852.1																																																																																				0.443	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		7	322	NA	NA	NA	NA	7	322	---	---	---	---
SOX21	11166	broad.mit.edu	37	13	95364121	95364135	+	In_Frame_Del	DEL	GGCCTCGTCGATGAA	GGCCTCGTCGATGAA	-	rs376668908		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr13:95364121_95364135delGGCCTCGTCGATGAA	ENST00000376945.2	-	1	254_268	c.169_183delTTCATCGACGAGGCC	c.(169-183)ttcatcgacgaggccdel	p.FIDEA57del	SOX21-AS1_ENST00000438290.2_lincRNA	NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN	SRY (sex determining region Y)-box 21	57					hair follicle development (GO:0001942)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					GTAGACGCTTGGCCTCGTCGATGAACGGCCGCTTC	0.614																																						uc001vma.2		NA																	0					0						c.(169-183)TTCATCGACGAGGCCdel		SRY-box 21																																				SO:0001651	inframe_deletion	11166				regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr13:95364121_95364135delGGCCTCGTCGATGAA	AF107044	CCDS9473.1	13q31-q32	2008-07-18			ENSG00000125285	ENSG00000125285		"""SRY (sex determining region Y)-boxes"""	11197	protein-coding gene	gene with protein product	"""SRY-box 21"""	604974				10441749	Standard	NM_007084		Approved	SOX25	uc001vma.3	Q9Y651	OTTHUMG00000017209	ENST00000376945.2:c.169_183delTTCATCGACGAGGCC	13.37:g.95364121_95364135delGGCCTCGTCGATGAA	ENSP00000366144:p.Phe57_Ala61del					uc001vmb.1_5'Flank	p.FIDEA57del	NM_007084	NP_009015	Q9Y651	SOX21_HUMAN			1	255_269	-	all_neural(89;0.0646)|Medulloblastoma(90;0.163)		57_61			HMG box.		P35715|Q15504|Q5TBS1	In_Frame_Del	DEL	ENST00000376945.2	37	c.169_183delTTCATCGACGAGGCC	CCDS9473.1																																																																																				0.614	SOX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045467.4	NM_007084		24	104	NA	NA	NA	NA	24	104	---	---	---	---
TOX4	9878	broad.mit.edu	37	14	21963465	21963466	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr14:21963465_21963466insA	ENST00000405508.1	+	9	1995_1996	c.1719_1720insA	c.(1720-1722)aggfs	p.R574fs	TOX4_ENST00000448790.2_Frame_Shift_Ins_p.R551fs|TOX4_ENST00000262709.3_Frame_Shift_Ins_p.R574fs			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	574						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CTCGATGTGTGAGGTCTGGTTG	0.505																																						uc001waz.2		NA																	0				ovary(1)	1						c.(1717-1722)GTGAGGfs		epidermal Langerhans cell protein LCP1																																				SO:0001589	frameshift_variant	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21963465_21963466insA	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1720dupA	14.37:g.21963466_21963466dupA	ENSP00000385102:p.Arg574fs					TOX4_uc001way.2_Frame_Shift_Ins_p.V443fs|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Frame_Shift_Ins_p.V550fs|TOX4_uc010tlv.1_Frame_Shift_Ins_p.V443fs	p.V573fs	NM_014828	NP_055643	O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1822_1823	+	all_cancers(95;0.000465)		573_574					B4DPY8|B4DSM0|E7EV69	Frame_Shift_Ins	INS	ENST00000405508.1	37	c.1719_1720insA	CCDS32043.1																																																																																				0.505	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		15	218	NA	NA	NA	NA	15	218	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579514	7579514	+	Frame_Shift_Del	DEL	G	G	-	rs144386518		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:7579514delG	ENST00000269305.4	-	4	362	c.173delC	c.(172-174)ccafs	p.P58fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P58fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.P58fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P58fs	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	58	Interaction with HRMT1L2.		P -> Q (in a sporadic cancer; somatic mutation).|P -> T (in a sporadic cancer; 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.P58L(1)|p.P58fs*65(1)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)|p.P58Q(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)	ATCTGGACCTGGGTCTTCAGT	0.602		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)	uc002gim.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		17	Whole gene deletion(8)|Deletion - Frameshift(6)|Substitution - Missense(2)|Deletion - In frame(1)	p.0?(7)|p.P58L(1)|p.P58fs*65(1)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)|p.P58Q(1)	bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|urinary_tract(1)|oesophagus(1)|breast(1)|prostate(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(172-174)CCAfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							152.0	154.0	154.0					17																	7579514		2203	4300	6503	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579514delG	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.173delC	17.37:g.7579514delG	ENSP00000269305:p.Pro58fs	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_uc002gig.1_Frame_Shift_Del_p.P58fs|TP53_uc002gih.2_Frame_Shift_Del_p.P58fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P58fs|TP53_uc010cni.1_Frame_Shift_Del_p.P58fs|TP53_uc002gij.2_Frame_Shift_Del_p.P58fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.P19fs|TP53_uc010cnk.1_Frame_Shift_Del_p.P73fs	p.P58fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	367	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	58		P -> T (in a sporadic cancer; somatic mutation).|P -> Q (in a sporadic cancer; somatic mutation).	Interaction with HRMT1L2.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.173delC	CCDS11118.1																																																																																				0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		121	266	NA	NA	NA	NA	121	266	---	---	---	---
CYB561	1534	broad.mit.edu	37	17	61511870	61511870	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr17:61511870delA	ENST00000392976.1	-	6	948	c.649delT	c.(649-651)tacfs	p.Y217fs	CYB561_ENST00000448884.2_3'UTR|CYB561_ENST00000582034.1_Frame_Shift_Del_p.Y188fs|CYB561_ENST00000542042.1_Frame_Shift_Del_p.Y284fs|CYB561_ENST00000581573.1_Frame_Shift_Del_p.Y217fs|RP11-269G24.4_ENST00000584608.1_lincRNA|CYB561_ENST00000392975.2_Frame_Shift_Del_p.Y217fs|CYB561_ENST00000582997.1_Frame_Shift_Del_p.Y224fs|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000584031.1_3'UTR|CYB561_ENST00000360793.3_Frame_Shift_Del_p.Y217fs|CYB561_ENST00000582297.1_Intron	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	217	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		GTCAAGATGTAGAGCACCGCC	0.657																																						uc002jap.2		NA																	0				ovary(1)	1						c.(649-651)TACfs		cytochrome b-561							45.0	45.0	45.0					17																	61511870		2202	4300	6502	SO:0001589	frameshift_variant	1534				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding	g.chr17:61511870delA		CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"""Cytochrome b genes"""	2571	protein-coding gene	gene with protein product	"""ferric-chelate reductase 2"", ""cytochrome b561 family, member A1"""	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.649delT	17.37:g.61511870delA	ENSP00000376702:p.Tyr217fs					CYB561_uc002jaq.2_Frame_Shift_Del_p.Y263fs|CYB561_uc002jar.2_Frame_Shift_Del_p.Y217fs|CYB561_uc002jas.2_Frame_Shift_Del_p.Y217fs|CYB561_uc010ddt.2_3'UTR|CYB561_uc002jat.2_Frame_Shift_Del_p.Y217fs|CYB561_uc010wpf.1_3'UTR|CYB561_uc010wpg.1_Frame_Shift_Del_p.Y188fs	p.Y217fs	NM_001915	NP_001906	P49447	CY561_HUMAN		READ - Rectum adenocarcinoma(1115;0.0689)	5	1051	-			217			Cytochrome b561.|Helical; (Potential).		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Frame_Shift_Del	DEL	ENST00000392976.1	37	c.649delT	CCDS11636.1																																																																																				0.657	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1	NM_001915		7	30	NA	NA	NA	NA	7	30	---	---	---	---
PPP2R1A	5518	broad.mit.edu	37	19	52724304	52724305	+	Frame_Shift_Ins	INS	-	-	T	rs141690261		TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr19:52724304_52724305insT	ENST00000322088.6	+	12	1494_1495	c.1436_1437insT	c.(1435-1440)catgccfs	p.A480fs	CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Frame_Shift_Ins_p.A301fs|PPP2R1A_ENST00000444322.2_Frame_Shift_Ins_p.A425fs	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	480	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GAGTGGGCCCATGCCACAATCA	0.559			Mis		clear cell ovarian carcinoma																																	uc002pyp.2		NA		Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(1435-1437)CATfs		alpha isoform of regulatory subunit A, protein																																				SO:0001589	frameshift_variant	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52724304_52724305insT		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1437dupT	19.37:g.52724305_52724305dupT	ENSP00000324804:p.Ala480fs					PPP2R1A_uc010ydk.1_Frame_Shift_Ins_p.H424fs|PPP2R1A_uc002pyq.2_Frame_Shift_Ins_p.H300fs	p.H479fs	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	12	1595_1596	+			479			PP2A subunit C binding.|HEAT 13.		Q13773|Q6ICQ3|Q96DH3	Frame_Shift_Ins	INS	ENST00000322088.6	37	c.1436_1437insT	CCDS12849.1																																																																																				0.559	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		21	152	NA	NA	NA	NA	21	152	---	---	---	---
TFAP2C	7022	broad.mit.edu	37	20	55208539	55208540	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4728-01A-01D-1434-08	TCGA-CN-4728-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e450fec8-66dd-4798-8197-4206b8ba7c4d	4b1d7980-d6aa-4c96-b019-228d9243d7be	g.chr20:55208539_55208540insT	ENST00000201031.2	+	4	960_961	c.717_718insT	c.(718-720)tacfs	p.Y240fs	TFAP2C_ENST00000544508.1_Frame_Shift_Ins_p.Y71fs	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	240					cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CTACGTCTAAATACAAAGTGAC	0.535																																						uc002xya.2		NA																	0				central_nervous_system(1)	1						c.(715-720)AAATACfs		transcription factor AP-2 gamma																																				SO:0001589	frameshift_variant	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55208539_55208540insT		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.718dupT	20.37:g.55208540_55208540dupT	ENSP00000201031:p.Tyr240fs					TFAP2C_uc010zzi.1_Frame_Shift_Ins_p.K70fs	p.K239fs	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		4	960_961	+			239_240					B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Frame_Shift_Ins	INS	ENST00000201031.2	37	c.717_718insT	CCDS13454.1																																																																																				0.535	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		19	112	NA	NA	NA	NA	19	112	---	---	---	---
