#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC46A1	113235	broad.mit.edu	37	17	26731690	26731690	+	Missense_Mutation	SNP	T	T	C			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr17:26731690T>C	ENST00000440501.1	-	2	1120	c.1025A>G	c.(1024-1026)aAc>aGc	p.N342S	CTD-2350C19.1_ENST00000583956.1_RNA|SLC46A1_ENST00000584729.1_5'UTR|CTD-2350C19.2_ENST00000580714.1_RNA|SLC46A1_ENST00000321666.5_Missense_Mutation_p.N342S	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	342					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	CCCCAGGATGTTGAAGGCCAG	0.597																																						ENST00000440501.1																			0				lung(5)	5						c.(1024-1026)aAc>aGc		solute carrier family 46 (folate transporter), member 1	Folic Acid(DB00158)						47.0	48.0	48.0					17																	26731690		2044	4192	6236	SO:0001583	missense	113235				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity	g.chr17:26731690T>C	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.1025A>G	17.37:g.26731690T>C	ENSP00000395653:p.Asn342Ser					SLC46A1_ENST00000321666.5_Missense_Mutation_p.N342S|SLC46A1_ENST00000584729.1_5'UTR	p.N342S	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	1120	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		342					Q1HE20|Q86T92|Q8TEG3|Q96FL0	Missense_Mutation	SNP	ENST00000440501.1	37	c.1025A>G		.	.	.	.	.	.	.	.	.	.	T	9.505	1.104189	0.20632	.	.	ENSG00000076351	ENST00000440501;ENST00000321666	T;T	0.79653	-1.29;-1.29	5.05	5.05	0.67936	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	.	.	.	0.58432	D	0.999997	B;P;P	0.45126	0.049;0.663;0.851	B;B;P	0.45474	0.069;0.243;0.482	T	0.74087	-0.3778	9	0.20519	T	0.43	-18.6636	14.8039	0.69938	0.0:0.0:0.0:1.0	.	342;342;342	B4DJ17;Q96NT5-2;Q96NT5	.;.;PCFT_HUMAN	S	342	ENSP00000395653:N342S;ENSP00000318828:N342S	ENSP00000318828:N342S	N	-	2	0	SLC46A1	23755817	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.904000	0.69886	1.898000	0.54952	0.460000	0.39030	AAC		0.597	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		8	13	0	0	0	1	0	8	13				
PWWP2B	170394	broad.mit.edu	37	10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(289-291)Acc>Ccc		PWWP domain containing 2B							8.0	10.0	9.0					10																	134218293		2012	4035	6047	SO:0001583	missense	170394							g.chr10:134218293A>C	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.289A>C	10.37:g.134218293A>C	ENSP00000306324:p.Thr97Pro					PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	348	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	97			Pro-rich.		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	ENST00000305233.5	37	c.289A>C	CCDS7667.2	.	.	.	.	.	.	.	.	.	.	A	5.486	0.274753	0.10403	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.56275	0.47;1.46	2.52	-4.44	0.03557	.	0.656446	0.13135	U	0.411121	T	0.27027	0.0662	N	0.19112	0.55	0.09310	N	1	B	0.27192	0.171	B	0.18263	0.021	T	0.06899	-1.0801	10	0.37606	T	0.19	2.6811	4.8705	0.13629	0.4748:0.0:0.3827:0.1425	.	97	Q6NUJ5	PWP2B_HUMAN	P	97	ENSP00000306324:T97P;ENSP00000357598:T97P	ENSP00000306324:T97P	T	+	1	0	PWWP2B	134068283	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.981000	0.00662	-0.950000	0.03659	-1.114000	0.02060	ACC		0.756	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		7	11	0	0	0	1	0	7	11				
FRG1B	284802	broad.mit.edu	37	20	29625971	29625971	+	Missense_Mutation	SNP	C	C	A	rs145033899		TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr20:29625971C>A	ENST00000278882.3	+	5	595	c.215C>A	c.(214-216)cCa>cAa	p.P72Q	FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	72										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAATGGGAACCAGTCTTTCAA	0.328																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(214-216)cCa>cAa																																						SO:0001583	missense	284802							g.chr20:29625971C>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.215C>A	20.37:g.29625971C>A	ENSP00000278882:p.Pro72Gln					FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q	p.P72Q							5	595	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.215C>A		.	.	.	.	.	.	.	.	.	.	c	12.14	1.847531	0.32606	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49720	0.77	1.68	1.68	0.24146	.	0.112402	0.64402	D	0.000009	T	0.63271	0.2497	.	.	.	0.49483	D	0.999795	D	0.63046	0.992	D	0.79784	0.993	T	0.65948	-0.6044	9	0.66056	D	0.02	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	77	F5H5R5	.	Q	72;77;72	ENSP00000408863:P77Q	ENSP00000278882:P72Q	P	+	2	0	FRG1B	28239632	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CCA		0.328	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	133	1	0	1.23904e-05	1	1.23904e-05	4	133				
ATP13A4	84239	broad.mit.edu	37	3	193183900	193183900	+	Missense_Mutation	SNP	T	T	C			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr3:193183900T>C	ENST00000342695.4	-	11	1508	c.1186A>G	c.(1186-1188)Agg>Ggg	p.R396G	ATP13A4_ENST00000392443.3_Missense_Mutation_p.R396G|ATP13A4_ENST00000295548.3_Missense_Mutation_p.R396G	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	396						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATGGCATCCCTGTACAACTGA	0.478																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(1186-1188)Agg>Ggg		ATPase type 13A4							263.0	242.0	249.0					3																	193183900		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193183900T>C	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1186A>G	3.37:g.193183900T>C	ENSP00000339182:p.Arg396Gly					ATP13A4_ENST00000392443.3_Missense_Mutation_p.R396G|ATP13A4_ENST00000295548.3_Missense_Mutation_p.R396G	p.R396G	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	11	1508	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		396					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.1186A>G	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903594	0.72754	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	D;D;D	0.91464	-2.85;-2.85;-2.85	5.85	4.66	0.58398	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92328	0.7566	M	0.89414	3.03	0.46981	D	0.999277	P;B;P	0.40553	0.721;0.426;0.494	B;B;B	0.43155	0.281;0.381;0.41	D	0.91601	0.5295	10	0.59425	D	0.04	-27.0704	11.2104	0.48795	0.0:0.0:0.2936:0.7064	.	396;396;396	Q4VNC1-3;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	G	396	ENSP00000376238:R396G;ENSP00000339182:R396G;ENSP00000295548:R396G	ENSP00000295548:R396G	R	-	1	2	ATP13A4	194666594	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.014000	0.64029	1.009000	0.39289	0.533000	0.62120	AGG		0.478	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		81	126	0	0	0	1	0	81	126				
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs371238897		TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547																																						ENST00000395215.3																			2	Substitution - Missense(2)	p.S190L(2)	endometrium(2)																																																0							g.chr15:76074431C>T																													15.37:g.76074431C>T														0	610	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.205	-0.162863	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.29850	0.0746	.	.	.	.	.	.	B	0.20550	0.046	B	0.15870	0.014	T	0.30208	-0.9986	6	0.27082	T	0.32	.	7.4893	0.27452	0.0:0.9999:0.0:1.0E-4	.	190	B4DZE6	.	L	190	.	ENSP00000378641:S190L	S	+	2	0	AC019294.2	73861486	0.987000	0.35691	0.013000	0.15412	0.024000	0.10985	3.310000	0.51911	0.745000	0.32763	0.274000	0.19336	TCG		0.547	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			5	29	0	0	0	1	0	5	29				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	43	0	0	0	1	0	4	43				
MYLK	4638	broad.mit.edu	37	3	123383036	123383036	+	Missense_Mutation	SNP	G	G	A	rs368321325		TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr3:123383036G>A	ENST00000475616.1	-	20	3900	c.3901C>T	c.(3901-3903)Cgc>Tgc	p.R1301C	MYLK_ENST00000360772.3_Missense_Mutation_p.R1301C|MYLK_ENST00000354792.5_Missense_Mutation_p.R101C|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360304.3_Missense_Mutation_p.R1301C|MYLK_ENST00000346322.5_Missense_Mutation_p.R1232C|MYLK_ENST00000359169.1_Missense_Mutation_p.R1301C			Q15746	MYLK_HUMAN	myosin light chain kinase	1301	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGCTCCTGGCGCGCGGCCAGG	0.627																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3901-3903)Cgc>Tgc		myosin light chain kinase		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	137.0	131.0	133.0		3901,3694,3901,3694	2.8	0.7	3		133	0,8600		0,0,4300	no	missense,missense,missense,missense	MYLK	NM_053025.3,NM_053026.3,NM_053027.3,NM_053028.3	180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1301/1915,1232/1846,1301/1864,1232/1795	123383036	1,13005	2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123383036G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3901C>T	3.37:g.123383036G>A	ENSP00000418335:p.Arg1301Cys					MYLK_ENST00000475616.1_Missense_Mutation_p.R1301C|MYLK_ENST00000360304.3_Missense_Mutation_p.R1301C|MYLK_ENST00000359169.1_Missense_Mutation_p.R1301C|MYLK_ENST00000354792.5_Missense_Mutation_p.R101C|MYLK_ENST00000346322.5_Missense_Mutation_p.R1232C	p.R1301C			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	24	4279	-		Lung NSC(201;0.0496)	1301			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3901C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163382	0.38217	2.27E-4	0.0	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616;ENST00000508240	T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	4.86	2.82	0.32997	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68997	0.3062	L	0.36672	1.1	0.42021	D	0.990989	D;D;D;D;D	0.76494	0.998;0.998;0.997;0.998;0.999	P;D;P;P;D	0.65233	0.854;0.933;0.873;0.864;0.91	T	0.68708	-0.5337	9	0.54805	T	0.06	.	8.9629	0.35858	0.0919:0.0:0.7154:0.1927	.	1301;1232;1301;1232;1301	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	C	1301;1301;1301;1232;101;1301;101	ENSP00000354004:R1301C;ENSP00000353452:R1301C;ENSP00000352088:R1301C;ENSP00000320622:R1232C;ENSP00000346846:R101C;ENSP00000418335:R1301C;ENSP00000422984:R101C	ENSP00000320622:R1232C	R	-	1	0	MYLK	124865726	0.571000	0.26659	0.739000	0.30968	0.887000	0.51463	0.646000	0.24797	1.056000	0.40484	0.655000	0.94253	CGC		0.627	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		4	114	0	0	0	1	0	4	114				
ACTR1B	10120	broad.mit.edu	37	2	98275013	98275013	+	Silent	SNP	G	G	A			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr2:98275013G>A	ENST00000289228.5	-	6	750	c.534C>T	c.(532-534)caC>caT	p.H178H		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	178					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						GCATGATGGAGTGAGGCATGG	0.602																																						ENST00000289228.5																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						c.(532-534)caC>caT		ARP1 actin-related protein 1 homolog B, centractin beta (yeast)							172.0	150.0	157.0					2																	98275013		2203	4300	6503	SO:0001819	synonymous_variant	10120					centrosome|dynactin complex	ATP binding|protein binding	g.chr2:98275013G>A	X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"""ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"""	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.534C>T	2.37:g.98275013G>A							p.H178H	NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN			6	750	-			178					D3DVH2|Q53SK5|Q9BRB7	Silent	SNP	ENST00000289228.5	37	c.534C>T	CCDS2033.1																																																																																				0.602	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735		27	42	0	0	0	1	0	27	42				
MERTK	10461	broad.mit.edu	37	2	112755020	112755020	+	Missense_Mutation	SNP	C	C	T			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr2:112755020C>T	ENST00000295408.4	+	10	1828	c.1571C>T	c.(1570-1572)gCc>gTc	p.A524V	MERTK_ENST00000421804.2_Missense_Mutation_p.A524V|MERTK_ENST00000409780.1_Missense_Mutation_p.A348V			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	524					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATCTCCTTGGCCATCAGAAAA	0.433																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(1570-1572)gCc>gTc		c-mer proto-oncogene tyrosine kinase							108.0	97.0	101.0					2																	112755020		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112755020C>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1571C>T	2.37:g.112755020C>T	ENSP00000295408:p.Ala524Val					MERTK_ENST00000409780.1_Missense_Mutation_p.A348V|MERTK_ENST00000421804.2_Missense_Mutation_p.A524V	p.A524V			Q12866	MERTK_HUMAN			10	1828	+			524					Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.1571C>T	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	0.084	-1.179040	0.01633	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780	T;T;T	0.73469	-0.75;-0.75;-0.74	5.84	4.01	0.46588	.	0.249863	0.20639	N	0.088433	T	0.56124	0.1964	N	0.20685	0.6	0.27182	N	0.96064	B	0.02656	0.0	B	0.06405	0.002	T	0.41395	-0.9511	10	0.22706	T	0.39	-17.8574	8.6435	0.33991	0.0:0.8179:0.0:0.1821	.	524	Q12866	MERTK_HUMAN	V	524;524;166;348	ENSP00000295408:A524V;ENSP00000389152:A524V;ENSP00000387277:A348V	ENSP00000295408:A524V	A	+	2	0	MERTK	112471491	1.000000	0.71417	0.999000	0.59377	0.069000	0.16628	1.495000	0.35627	0.883000	0.36040	0.637000	0.83480	GCC		0.433	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			4	85	0	0	0	1	0	4	85				
CDKN2C	1031	broad.mit.edu	37	1	51439844	51439844	+	Missense_Mutation	SNP	G	G	A			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr1:51439844G>A	ENST00000262662.1	+	4	2443	c.409G>A	c.(409-411)Ggg>Agg	p.G137R	CDKN2C_ENST00000396148.1_Missense_Mutation_p.G137R|CDKN2C_ENST00000371761.3_Missense_Mutation_p.G137R			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	137					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		GAACCATAAGGGGGACACCGC	0.577			D		"""glioma, MM"""																																Melanoma(47;50 1155 4767 22863 47597)	ENST00000262662.1				Rec	yes		1	1p32	1031	D	"""cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"""			"""O, L"""			"""glioma, MM"""		12	Whole gene deletion(11)|Unknown(1)	p.0?(11)|p.?(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)	central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23						c.(409-411)Ggg>Agg		cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)							54.0	58.0	56.0					1																	51439844		2203	4300	6503	SO:0001583	missense	1031				cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr1:51439844G>A	BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"""Ankyrin repeat domain containing"""	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.409G>A	1.37:g.51439844G>A	ENSP00000262662:p.Gly137Arg					CDKN2C_ENST00000396148.1_Missense_Mutation_p.G137R|CDKN2C_ENST00000371761.3_Missense_Mutation_p.G137R	p.G137R			P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	4	2443	+			137					Q8TB83	Missense_Mutation	SNP	ENST00000262662.1	37	c.409G>A	CCDS555.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128289	0.94473	.	.	ENSG00000123080	ENST00000262662;ENST00000396148;ENST00000371761	T;T;T	0.71579	-0.58;-0.58;-0.58	5.83	5.83	0.93111	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.78830	0.4345	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79841	-0.1633	10	0.66056	D	0.02	-10.3359	20.1338	0.98010	0.0:0.0:1.0:0.0	.	137	P42773	CDN2C_HUMAN	R	137	ENSP00000262662:G137R;ENSP00000379452:G137R;ENSP00000360826:G137R	ENSP00000262662:G137R	G	+	1	0	CDKN2C	51212432	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.317000	0.89987	2.770000	0.95276	0.655000	0.94253	GGG		0.577	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		10	13	0	0	0	1	0	10	13				
DGUOK	1716	broad.mit.edu	37	2	74154050	74154050	+	Missense_Mutation	SNP	C	C	T			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr2:74154050C>T	ENST00000264093.4	+	1	98	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C	DGUOK_ENST00000356837.6_Missense_Mutation_p.R5C|DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000348222.1_Missense_Mutation_p.R5C	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	5					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	GGCCGCGGGCCGCCTCTTTCT	0.657																																						ENST00000264093.4																			0				endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(13-15)Cgc>Tgc		deoxyguanosine kinase							45.0	42.0	43.0					2																	74154050		2203	4300	6503	SO:0001583	missense	1716				guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:74154050C>T	U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.13C>T	2.37:g.74154050C>T	ENSP00000264093:p.Arg5Cys					DGUOK_ENST00000348222.1_Missense_Mutation_p.R5C|DGUOK_ENST00000356837.6_Missense_Mutation_p.R5C|DGUOK_ENST00000462685.1_3'UTR	p.R5C	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN			1	98	+			5					P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Missense_Mutation	SNP	ENST00000264093.4	37	c.13C>T	CCDS1931.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.766906	0.69878	.	.	ENSG00000114956	ENST00000264093;ENST00000348222;ENST00000356837;ENST00000347161	D;D;D	0.99574	-5.48;-4.94;-6.2	4.3	-1.26	0.09376	.	0.000000	0.64402	D	0.000009	D	0.98479	0.9493	M	0.67953	2.075	0.09310	N	1	D;D	0.64830	0.994;0.99	P;P	0.47744	0.556;0.556	D	0.96664	0.9491	10	0.87932	D	0	-6.3541	3.298	0.06973	0.5251:0.252:0.1315:0.0914	.	5;5	E5KSL6;Q16854	.;DGUOK_HUMAN	C	5	ENSP00000264093:R5C;ENSP00000306964:R5C;ENSP00000349294:R5C	ENSP00000264093:R5C	R	+	1	0	DGUOK	74007558	0.000000	0.05858	0.000000	0.03702	0.269000	0.26545	0.087000	0.14958	-0.256000	0.09473	0.655000	0.94253	CGC		0.657	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252050.1			13	23	0	0	0	1	0	13	23				
ZNF574	64763	broad.mit.edu	37	19	42584207	42584207	+	Silent	SNP	G	G	A			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr19:42584207G>A	ENST00000600245.1	+	2	2104	c.1449G>A	c.(1447-1449)cgG>cgA	p.R483R	ZNF574_ENST00000359044.4_Silent_p.R483R|ZNF574_ENST00000222339.7_Silent_p.R573R|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(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)				AGCTGACCCGGCACCAACGTT	0.597																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1447-1449)cgG>cgA		zinc finger protein 574							74.0	83.0	80.0					19																	42584207		2203	4300	6503	SO:0001819	synonymous_variant	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584207G>A	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.1449G>A	19.37:g.42584207G>A						ZNF574_ENST00000359044.4_Silent_p.R483R|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Silent_p.R573R	p.R483R			Q6ZN55	ZN574_HUMAN			2	2104	+		Prostate(69;0.059)	483					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Silent	SNP	ENST00000600245.1	37	c.1449G>A	CCDS12596.1																																																																																				0.597	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		4	105	0	0	0	1	0	4	105				
NBPF20	100288142	broad.mit.edu	37	1	148252785	148252785	+	Missense_Mutation	SNP	T	T	C	rs370631350	byFrequency	TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr1:148252785T>C	ENST00000369202.1	-	110	13764	c.13567A>G	c.(13567-13569)Aaa>Gaa	p.K4523E				Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	844						cytoplasm (GO:0005737)				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						cttcttcttttcttctttgat	0.418													.|||	26	0.00519169	0.0053	0.0	5008	,	,		28012	0.005		0.002	False		,,,				2504	0.0123					ENST00000369202.1																			0				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						c.(13567-13569)Aaa>Gaa		neuroblastoma breakpoint family, member 20																																				SO:0001583	missense	100288142							g.chr1:148252785T>C		CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.13567A>G	1.37:g.148252785T>C	ENSP00000358203:p.Lys4523Glu						p.K4523E							110	13764	-									Missense_Mutation	SNP	ENST00000369202.1	37	c.13567A>G		.	.	.	.	.	.	.	.	.	.	.	0.369	-0.935042	0.02340	.	.	ENSG00000203832	ENST00000414231;ENST00000369202;ENST00000446099;ENST00000430395	T	0.03152	4.03	.	.	.	.	.	.	.	.	T	0.01254	0.0041	.	.	.	0.21220	N	0.999751	P;B;.	0.34587	0.458;0.001;.	B;B;.	0.39152	0.292;0.002;.	T	0.50491	-0.8822	5	0.34782	T	0.22	.	.	.	.	.	171;834;4523	B4DS78;Q8IX62;A2BH96	.;.;.	E	573;4523;76;171	ENSP00000358203:K4523E	ENSP00000358203:K4523E	K	-	1	0	NBPF20	146619409	0.015000	0.18098	0.031000	0.17742	0.036000	0.12997	0.743000	0.26231	0.056000	0.16144	0.055000	0.15244	AAA		0.418	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000100689.2			5	73	0	0	0	1	0	5	73				
OTULIN	90268	broad.mit.edu	37	5	14690382	14690382	+	Missense_Mutation	SNP	C	C	G			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr5:14690382C>G	ENST00000284274.4	+	6	907	c.829C>G	c.(829-831)Ctc>Gtc	p.L277V		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		277	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					GAGGAACCACCTCAACCAGGT	0.423																																						ENST00000284274.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(829-831)Ctc>Gtc		family with sequence similarity 105, member B							67.0	64.0	65.0					5																	14690382		1930	4145	6075	SO:0001583	missense	90268							g.chr5:14690382C>G																												ENST00000284274.4:c.829C>G	5.37:g.14690382C>G	ENSP00000284274:p.Leu277Val						p.L277V	NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN			6	907	+	Lung NSC(4;0.00696)		277					D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	ENST00000284274.4	37	c.829C>G	CCDS43302.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048607	0.75846	.	.	ENSG00000154124	ENST00000284274	T	0.19394	2.15	6.07	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	M	0.78049	2.395	0.51233	D	0.999919	D	0.89917	1.0	D	0.83275	0.996	T	0.32025	-0.9922	9	.	.	.	-12.4511	7.2649	0.26224	0.0:0.668:0.0:0.332	.	277	Q96BN8	F105B_HUMAN	V	277	ENSP00000284274:L277V	.	L	+	1	0	FAM105B	14743382	1.000000	0.71417	0.908000	0.35775	0.951000	0.60555	2.585000	0.46111	1.585000	0.49928	0.655000	0.94253	CTC		0.423	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1			20	44	0	0	0	1	0	20	44				
PCDH11Y	83259	broad.mit.edu	37	Y	4968046	4968046	+	Silent	SNP	C	C	T			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chrY:4968046C>T	ENST00000333703.4	+	5	2907	c.2394C>T	c.(2392-2394)acC>acT	p.T798T	PCDH11Y_ENST00000362095.5_Silent_p.T809T|PCDH11Y_ENST00000215473.6_Silent_p.T809T	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	809	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTCAGTGACCAATGCTACAC	0.423																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(2392-2394)acC>acT		protocadherin 11 Y-linked																																				SO:0001819	synonymous_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4968046C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.2394C>T	Y.37:g.4968046C>T						PCDH11Y_ENST00000215473.6_Silent_p.T809T|PCDH11Y_ENST00000362095.5_Silent_p.T809T	p.T798T	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			5	2907	+			809			Cadherin 7.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Silent	SNP	ENST00000333703.4	37	c.2394C>T	CCDS14776.1																																																																																				0.423	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		4	73	0	0	0	1	0	4	73				
DOCK9	23348	broad.mit.edu	37	13	99538837	99538837	+	Silent	SNP	G	G	A			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr13:99538837G>A	ENST00000376460.1	-	19	2165	c.2085C>T	c.(2083-2085)agC>agT	p.S695S	DOCK9_ENST00000448493.2_Silent_p.S707S|DOCK9_ENST00000339416.2_Silent_p.S696S|DOCK9_ENST00000442173.1_Silent_p.S695S	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	696	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCAAAGGCGCTTCTTGTGA	0.383																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2083-2085)agC>agT		dedicator of cytokinesis 9							77.0	76.0	76.0					13																	99538837		1853	4096	5949	SO:0001819	synonymous_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99538837G>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2085C>T	13.37:g.99538837G>A						DOCK9_ENST00000442173.1_Silent_p.S695S|DOCK9_ENST00000339416.2_Silent_p.S696S|DOCK9_ENST00000448493.2_Silent_p.S707S	p.S695S	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			19	2165	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		696			DHR-1.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	ENST00000376460.1	37	c.2085C>T	CCDS45062.1																																																																																				0.383	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		15	20	0	0	0	1	0	15	20				
MST1L	11223	broad.mit.edu	37	1	17085189	17085189	+	RNA	SNP	A	A	G			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr1:17085189A>G	ENST00000455405.2	-	0	87							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.S428P(1)									TCCAGGATTGATGGCGGCTGG	0.572																																						ENST00000455405.2																			1	Substitution - Missense(1)	p.S428P(1)	kidney(1)																																																11223							g.chr1:17085189A>G	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085189A>G														0	87	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	11.85	1.762304	0.31228	.	.	ENSG00000186715	ENST00000389184	.	.	.	.	.	.	.	.	.	.	.	T	0.41373	0.1156	.	.	.	.	.	.	.	.	.	.	.	.	T	0.49133	-0.8971	2	0.35671	T	0.21	.	.	.	.	.	.	.	.	P	428	.	ENSP00000445850:S428P	S	-	1	0	MST1P9	16957776	0.023000	0.18921	0.000000	0.03702	0.000000	0.00434	-1.003000	0.03682	0.000000	0.14550	0.000000	0.15137	TCA		0.572	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		4	24	0	0	0	1	0	4	24				
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr15:76074470A>G	ENST00000395215.3	+	0	649				RN7SL319P_ENST00000480656.2_RNA														p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577																																						ENST00000395215.3																			4	Substitution - Missense(4)	p.Q203R(4)	kidney(3)|endometrium(1)																																																0							g.chr15:76074470A>G																													15.37:g.76074470A>G														0	649	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.199	-0.164202	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.40222	0.1108	.	.	.	.	.	.	D	0.54964	0.969	P	0.57101	0.813	T	0.45101	-0.9284	6	0.19147	T	0.46	.	2.915	0.05750	0.5938:0.0:0.0:0.4062	.	203	B4DZE6	.	R	203	.	ENSP00000378641:Q203R	Q	+	2	0	AC019294.2	73861525	0.996000	0.38824	0.003000	0.11579	0.003000	0.03518	0.808000	0.27154	0.620000	0.30215	0.228000	0.17796	CAG		0.577	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			4	33	0	0	0	1	0	4	33				
PTPN13	5783	broad.mit.edu	37	4	87701607	87701607	+	Missense_Mutation	SNP	A	A	G			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr4:87701607A>G	ENST00000411767.2	+	36	6007	c.5944A>G	c.(5944-5946)Aag>Gag	p.K1982E	PTPN13_ENST00000511467.1_Missense_Mutation_p.K1987E|PTPN13_ENST00000436978.1_Missense_Mutation_p.K1987E|PTPN13_ENST00000316707.6_Missense_Mutation_p.K1791E|PTPN13_ENST00000427191.2_Missense_Mutation_p.K1963E			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1982					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTCAGCTCCAAAGTCAaccaa	0.403																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(5959-5961)Aag>Gag		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							71.0	69.0	70.0					4																	87701607		1885	4110	5995	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87701607A>G		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5944A>G	4.37:g.87701607A>G	ENSP00000407249:p.Lys1982Glu					PTPN13_ENST00000411767.2_Missense_Mutation_p.K1982E|PTPN13_ENST00000511467.1_Missense_Mutation_p.K1987E|PTPN13_ENST00000316707.6_Missense_Mutation_p.K1791E|PTPN13_ENST00000427191.2_Missense_Mutation_p.K1963E	p.K1987E	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	36	6439	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1982					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.5959A>G	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	A	10.61	1.398709	0.25205	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.52057	0.68;0.71;0.78;0.68;0.71	5.16	-1.48	0.08745	.	0.815284	0.10462	N	0.671874	T	0.36580	0.0972	L	0.53249	1.67	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.09377	0.002;0.004;0.002;0.004	T	0.27673	-1.0067	10	0.36615	T	0.2	.	4.8017	0.13299	0.4857:0.1643:0.35:0.0	.	1791;1963;1982;1987	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	E	1963;1987;1791;1982;1987;1931	ENSP00000408368:K1963E;ENSP00000394794:K1987E;ENSP00000322675:K1791E;ENSP00000407249:K1982E;ENSP00000426626:K1987E	ENSP00000322675:K1791E	K	+	1	0	PTPN13	87920631	0.000000	0.05858	0.001000	0.08648	0.858000	0.48976	-0.547000	0.06055	-0.480000	0.06803	0.477000	0.44152	AAG		0.403	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			6	15	0	0	0	1	0	6	15				
OR8J3	81168	broad.mit.edu	37	11	55904696	55904696	+	Missense_Mutation	SNP	A	A	G	rs556840660		TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr11:55904696A>G	ENST00000301529.1	-	1	498	c.499T>C	c.(499-501)Tct>Cct	p.S167P		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GAGCAATAAGACACAGAGAAT	0.413																																						ENST00000301529.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59						c.(499-501)Tct>Cct		olfactory receptor, family 8, subfamily J, member 3							91.0	89.0	90.0					11																	55904696		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904696A>G		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.499T>C	11.37:g.55904696A>G	ENSP00000301529:p.Ser167Pro						p.S167P	NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN			1	498	-	Esophageal squamous(21;0.00693)		167					Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.499T>C	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843530	0.32606	.	.	ENSG00000167822	ENST00000301529	T	0.36699	1.24	3.26	-0.942	0.10398	GPCR, rhodopsin-like superfamily (1);	0.192468	0.37715	N	0.001966	T	0.33265	0.0857	L	0.28400	0.85	0.09310	N	1	D	0.54397	0.966	P	0.62885	0.908	T	0.16837	-1.0389	10	0.59425	D	0.04	.	0.9624	0.01398	0.359:0.3153:0.171:0.1548	.	167	Q8NGG0	OR8J3_HUMAN	P	167	ENSP00000301529:S167P	ENSP00000301529:S167P	S	-	1	0	OR8J3	55661272	0.000000	0.05858	0.099000	0.21106	0.761000	0.43186	-1.434000	0.02425	-0.124000	0.11724	0.240000	0.17902	TCT		0.413	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		4	62	0	0	0	1	0	4	62				
COL9A2	1298	broad.mit.edu	37	1	40768483	40768484	+	Splice_Site	INS	-	-	GGAG	rs3831927|rs547665409|rs369338511|rs144651070|rs563535301	byFrequency	TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr1:40768483_40768484insGGAG	ENST00000372748.3	-	30	1700		c.e30-2		COL9A2_ENST00000466267.1_Splice_Site	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCAGTTGCTCTggagggaggga	0.649																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.e30-2		collagen, type IX, alpha 2																																				SO:0001630	splice_region_variant	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40768483_40768484insGGAG	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.1604-2->CTCC	1.37:g.40768488_40768491dupGGAG						COL9A2_ENST00000466267.1_Splice_Site		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		30	1700	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)						B2RMP9	Splice_Site	INS	ENST00000372748.3	37		CCDS450.1																																																																																				0.649	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852	Intron	3	3						3	3	---	---	---	---
LMNA	4000	broad.mit.edu	37	1	156106111	156106111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr1:156106111G>T	ENST00000368300.4	+	7	1476	c.1264G>T	c.(1264-1266)Gag>Tag	p.E422*	LMNA_ENST00000347559.2_Nonsense_Mutation_p.E422*|LMNA_ENST00000361308.4_Nonsense_Mutation_p.E422*|LMNA_ENST00000473598.2_Nonsense_Mutation_p.E323*|LMNA_ENST00000448611.2_Nonsense_Mutation_p.E310*|LMNA_ENST00000392353.3_Nonsense_Mutation_p.E341*|LMNA_ENST00000368299.3_Nonsense_Mutation_p.E422*|LMNA_ENST00000368297.1_Nonsense_Mutation_p.E341*|LMNA_ENST00000368301.2_Nonsense_Mutation_p.E422*|LMNA_ENST00000496738.1_3'UTR	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	422	Tail.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GCGCAAACTGGAGTCCACTGA	0.657									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																													ENST00000368300.4																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10						c.(1264-1266)Gag>Tag		lamin A/C							50.0	53.0	52.0					1																	156106111		2203	4300	6503	SO:0001587	stop_gained	4000	Werner syndrome;Hutchinson-Gilford Progeria Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr1:156106111G>T	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.1264G>T	1.37:g.156106111G>T	ENSP00000357283:p.Glu422*					LMNA_ENST00000473598.2_Nonsense_Mutation_p.E323*|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000368297.1_Nonsense_Mutation_p.E341*|LMNA_ENST00000392353.3_Nonsense_Mutation_p.E341*|LMNA_ENST00000368299.3_Nonsense_Mutation_p.E422*|LMNA_ENST00000368301.2_Nonsense_Mutation_p.E422*|LMNA_ENST00000361308.4_Nonsense_Mutation_p.E422*|LMNA_ENST00000347559.2_Nonsense_Mutation_p.E422*|LMNA_ENST00000448611.2_Nonsense_Mutation_p.E310*	p.E422*	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN			7	1476	+	Hepatocellular(266;0.158)		422			Tail.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Nonsense_Mutation	SNP	ENST00000368300.4	37	c.1264G>T	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527053	0.85706	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355;ENST00000448611;ENST00000368297;ENST00000473598;ENST00000392353;ENST00000508500	.	.	.	5.74	5.74	0.90152	.	0.198435	0.33127	N	0.005256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	17.4233	0.87520	0.0:0.0:1.0:0.0	.	.	.	.	X	422;422;422;422;422;422;422;310;341;323;341;48	.	ENSP00000292302:E422X	E	+	1	0	LMNA	154372735	1.000000	0.71417	0.999000	0.59377	0.118000	0.20060	6.716000	0.74702	2.695000	0.91970	0.655000	0.94253	GAG		0.657	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		14	31	1	0	9.05144e-12	1	9.39957e-12	14	31				
FAM162B	221303	broad.mit.edu	37	6	117086577	117086577	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr6:117086577delG	ENST00000368557.4	-	1	309	c.163delC	c.(163-165)caafs	p.Q55fs		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	55						integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)	6						CCGTGACCTTGGGGCCCAGAA	0.766																																						ENST00000368557.4																			0				large_intestine(2)|lung(4)	6						c.(163-165)aafs		family with sequence similarity 162, member B							4.0	5.0	5.0					6																	117086577		1756	3947	5703	SO:0001589	frameshift_variant	221303					integral to membrane		g.chr6:117086577delG	BC038997	CCDS43497.1	6q22.31	2014-01-28	2008-06-05	2008-06-05	ENSG00000183807	ENSG00000183807			21549	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 189"""	C6orf189			Standard	NM_001085480		Approved	bA86F4.2	uc003pxi.2	Q5T6X4	OTTHUMG00000015446	ENST00000368557.4:c.163delC	6.37:g.117086577delG	ENSP00000357545:p.Gln55fs						p.Q55fs	NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN			1	309	-			55					Q8IXW8	Frame_Shift_Del	DEL	ENST00000368557.4	37	c.163delC	CCDS43497.1																																																																																				0.766	FAM162B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041965.1	XM_927381		2	4						2	4	---	---	---	---
IGDCC4	57722	broad.mit.edu	37	15	65689295	65689295	+	Frame_Shift_Del	DEL	G	G	-			TCGA-PR-A5PH-01A-11D-A35D-08	TCGA-PR-A5PH-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02e189ce-0887-486f-98bc-09fa7cebb469	006fbf55-10ae-425b-bce6-2388efa68939	g.chr15:65689295delG	ENST00000352385.2	-	6	1083	c.874delC	c.(874-876)ctgfs	p.L292fs		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	292	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GTGCGGCCCAGGACGATGACA	0.652																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(874-876)tgfs		immunoglobulin superfamily, DCC subclass, member 4							39.0	37.0	37.0					15																	65689295		2189	4295	6484	SO:0001589	frameshift_variant	57722					integral to membrane|plasma membrane		g.chr15:65689295delG		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.874delC	15.37:g.65689295delG	ENSP00000319623:p.Leu292fs						p.L292fs	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			6	1083	-			292			Ig-like C2-type 3.		Q9HCE4	Frame_Shift_Del	DEL	ENST00000352385.2	37	c.874delC	CCDS10206.1																																																																																				0.652	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		2	4						2	4	---	---	---	---
