#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TMEM234	56063	broad.mit.edu	37	1	32690027	32690027	+	5'Flank	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr1:32690027C>T	ENST00000344461.3	-	0	0				TMEM234_ENST00000309777.6_5'Flank|TMEM234_ENST00000545122.1_5'Flank|EIF3I_ENST00000471486.1_3'UTR|TMEM234_ENST00000373593.1_5'Flank|EIF3I_ENST00000373586.1_Silent_p.V67V			Q8WY98	TM234_HUMAN	transmembrane protein 234							integral component of membrane (GO:0016021)				kidney(2)|lung(3)	5						CCAAGCATGTCCTCACTGGCT	0.483																																						ENST00000373586.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(199-201)gtC>gtT		eukaryotic translation initiation factor 3, subunit I							103.0	91.0	95.0					1																	32690027		2203	4300	6503	SO:0001631	upstream_gene_variant	8668					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr1:32690027C>T	AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 91"""	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742		1.37:g.32690027C>T	Exception_encountered					EIF3I_ENST00000471486.1_3'UTR	p.V67V	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN			4	273	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	67					B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Silent	SNP	ENST00000344461.3	37	c.201C>T																																																																																					0.483	TMEM234-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092260.2	NM_019118		6	80	6	80	---	---	---	---
FAM179A	165186	broad.mit.edu	37	2	29237325	29237325	+	Silent	SNP	T	T	C			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr2:29237325T>C	ENST00000379558.4	+	8	1293	c.942T>C	c.(940-942)ccT>ccC	p.P314P	FAM179A_ENST00000403861.2_Silent_p.P314P	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	314										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGCCCTGCCTTTTTCTCAGT	0.582																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(940-942)ccT>ccC		family with sequence similarity 179, member A							29.0	33.0	32.0					2																	29237325		2118	4255	6373	SO:0001819	synonymous_variant	165186						binding	g.chr2:29237325T>C	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.942T>C	2.37:g.29237325T>C						FAM179A_ENST00000403861.2_Silent_p.P314P	p.P314P	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			8	1293	+			314					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.942T>C	CCDS1769.2																																																																																				0.582	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		2	11	2	11	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179702244	179702244	+	Silent	SNP	C	C	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr2:179702244C>A	ENST00000420890.2	-	23	3819	c.3702G>T	c.(3700-3702)gtG>gtT	p.V1234V	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.V659V	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1234										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAGGCTCTTCCACCTCCATGT	0.572																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(3700-3702)gtG>gtT		coiled-coil domain containing 141							63.0	63.0	63.0					2																	179702244		2203	4300	6503	SO:0001819	synonymous_variant	285025						protein binding	g.chr2:179702244C>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3702G>T	2.37:g.179702244C>A						CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.V659V	p.V1234V	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		23	3819	-			659					H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37	c.3702G>T																																																																																					0.572	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		3	47	3	47	---	---	---	---
STAT4	6775	broad.mit.edu	37	2	191940981	191940981	+	Missense_Mutation	SNP	A	A	G			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr2:191940981A>G	ENST00000392320.2	-	4	658	c.344T>C	c.(343-345)aTa>aCa	p.I115T	STAT4_ENST00000358470.4_Missense_Mutation_p.I115T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	115			I -> V (in dbSNP:rs3024839).		cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGCAGCCAATATTCTCCTCTC	0.343																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(343-345)aTa>aCa		signal transducer and activator of transcription 4							108.0	110.0	109.0					2																	191940981		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191940981A>G		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.344T>C	2.37:g.191940981A>G	ENSP00000376134:p.Ile115Thr					STAT4_ENST00000358470.4_Missense_Mutation_p.I115T	p.I115T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		4	658	-			115		I -> V (in dbSNP:rs3024839).			Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.344T>C	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.125071	0.77436	.	.	ENSG00000138378	ENST00000358470;ENST00000392320;ENST00000413064	T;T;T	0.57752	0.38;0.38;0.38	5.22	5.22	0.72569	STAT transcription factor, protein interaction (4);	0.050746	0.85682	D	0.000000	T	0.73442	0.3587	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.992;0.997;0.997	T	0.77930	-0.2403	10	0.87932	D	0	-22.5296	14.3842	0.66931	1.0:0.0:0.0:0.0	.	115;115;115	B4DSY7;B4DV04;Q14765	.;.;STAT4_HUMAN	T	115;115;88	ENSP00000351255:I115T;ENSP00000376134:I115T;ENSP00000403238:I88T	ENSP00000351255:I115T	I	-	2	0	STAT4	191649226	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.219000	0.72231	2.098000	0.63641	0.528000	0.53228	ATA		0.343	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		10	62	10	62	---	---	---	---
RNF216	54476	broad.mit.edu	37	7	5780784	5780784	+	Silent	SNP	A	A	C			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr7:5780784A>C	ENST00000425013.2	-	4	917	c.693T>G	c.(691-693)tcT>tcG	p.S231S	RNF216_ENST00000389902.3_Silent_p.S288S	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	231					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GCTGAGGAGAAGAGGGGCCTG	0.542																																						ENST00000425013.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(691-693)tcT>tcG		ring finger protein 216							72.0	74.0	73.0					7																	5780784		2203	4300	6503	SO:0001819	synonymous_variant	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5780784A>C	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.693T>G	7.37:g.5780784A>C						RNF216_ENST00000389902.3_Silent_p.S288S	p.S231S	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	4	917	-		Ovarian(82;0.07)	231					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Silent	SNP	ENST00000425013.2	37	c.693T>G	CCDS34595.1																																																																																				0.542	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		18	77	18	77	---	---	---	---
ARHGEF5	7984	broad.mit.edu	37	7	144062353	144062353	+	Missense_Mutation	SNP	G	G	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr7:144062353G>A	ENST00000056217.5	+	2	2765	c.2591G>A	c.(2590-2592)aGc>aAc	p.S864N	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	864					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGGAGCAGGAGCACTCGGGGA	0.602																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2590-2592)aGc>aAc		Rho guanine nucleotide exchange factor (GEF) 5							77.0	88.0	84.0					7																	144062353		2202	4298	6500	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144062353G>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.2591G>A	7.37:g.144062353G>A	ENSP00000056217:p.Ser864Asn						p.S864N	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			2	2765	+	Melanoma(164;0.14)		864					A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.2591G>A	CCDS34771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.22|11.22	1.574109|1.574109	0.28092|0.28092	.|.	.|.	ENSG00000050327|ENSG00000050327	ENST00000474817|ENST00000056217	.|D	.|0.83075	.|-1.68	4.27|4.27	3.38|3.38	0.38709|0.38709	.|.	.|0.178441	.|0.33346	.|N	.|0.005010	T|T	0.79452|0.79452	0.4448|0.4448	L|L	0.36672|0.36672	1.1|1.1	0.54753|0.54753	D|D	0.999984|0.999984	.|D	.|0.54047	.|0.964	.|P	.|0.49561	.|0.615	T|T	0.79883|0.79883	-0.1615|-0.1615	5|10	.|0.87932	.|D	.|0	-15.6549|-15.6549	9.8457|9.8457	0.41026|0.41026	0.0:0.2343:0.7657:0.0|0.0:0.2343:0.7657:0.0	.|.	.|864	.|Q12774	.|ARHG5_HUMAN	T|N	118|864	.|ENSP00000056217:S864N	.|ENSP00000056217:S864N	A|S	+|+	1|2	0|0	ARHGEF5|ARHGEF5	143693286|143693286	0.614000|0.614000	0.27017|0.27017	0.663000|0.663000	0.29738|0.29738	0.012000|0.012000	0.07955|0.07955	2.245000|2.245000	0.43133|0.43133	0.999000|0.999000	0.39023|0.39023	-0.321000|-0.321000	0.08615|0.08615	GCA|AGC		0.602	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		4	123	4	123	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2820915	2820915	+	Missense_Mutation	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr8:2820915C>T	ENST00000520002.1	-	61	9841	c.9286G>A	c.(9286-9288)Gtg>Atg	p.V3096M	CSMD1_ENST00000537824.1_Missense_Mutation_p.V3095M|CSMD1_ENST00000602723.1_Missense_Mutation_p.V2919M|CSMD1_ENST00000542608.1_Missense_Mutation_p.V2918M|CSMD1_ENST00000602557.1_Missense_Mutation_p.V3096M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2919M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3096	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGACACAGCACGGCTATTTCC	0.498																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(9286-9288)Gtg>Atg		CUB and Sushi multiple domains 1							121.0	126.0	124.0					8																	2820915		1909	4134	6043	SO:0001583	missense	64478					integral to membrane		g.chr8:2820915C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9286G>A	8.37:g.2820915C>T	ENSP00000430733:p.Val3096Met					CSMD1_ENST00000602723.1_Missense_Mutation_p.V2919M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2919M|CSMD1_ENST00000542608.1_Missense_Mutation_p.V2918M|CSMD1_ENST00000520002.1_Missense_Mutation_p.V3096M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V3095M	p.V3096M			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	61	9841	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3096			Sushi 25.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.9286G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.66|17.66	3.444695|3.444695	0.63178|0.63178	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.29397	.|1.57;1.57;1.57;1.57	6.03|6.03	5.15|5.15	0.70609|0.70609	.|Complement control module (2);Sushi/SCR/CCP (1);	.|0.172710	.|0.36591	.|N	.|0.002514	T|T	0.55737|0.55737	0.1939|0.1939	M|M	0.88512|0.88512	2.96|2.96	0.80722|0.80722	D|D	1|1	.|D;P;D	.|0.76494	.|0.999;0.877;0.968	.|D;P;P	.|0.76071	.|0.987;0.541;0.763	T|T	0.61143|0.61143	-0.7122|-0.7122	5|10	.|0.62326	.|D	.|0.03	.|.	5.8231|5.8231	0.18538|0.18538	0.0:0.7513:0.0:0.2487|0.0:0.7513:0.0:0.2487	.|.	.|3096;3096;2918	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	H|M	2512|2919;3096;2957;3095;2918	.|ENSP00000383047:V2919M;ENSP00000430733:V3096M;ENSP00000441462:V3095M;ENSP00000446243:V2918M	.|ENSP00000320445:V2957M	R|V	-|-	2|1	0|0	CSMD1|CSMD1	2808322|2808322	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.157000|0.157000	0.22087|0.22087	1.917000|1.917000	0.39996|0.39996	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.498	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		79	44	79	44	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	119065088	119065088	+	Silent	SNP	T	T	C			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr9:119065088T>C	ENST00000328252.3	+	10	3375	c.3006T>C	c.(3004-3006)ttT>ttC	p.F1002F	RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Silent_p.F40F	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1002					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGAGGAGTTTGAACAAAAAA	0.438																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(3004-3006)ttT>ttC		pregnancy-associated plasma protein A, pappalysin 1							113.0	99.0	104.0					9																	119065088		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119065088T>C		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.3006T>C	9.37:g.119065088T>C						PAPPA_ENST00000534838.1_Silent_p.F40F|RP11-45A16.4_ENST00000451100.1_RNA	p.F1002F	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			10	3375	+			1002					B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.3006T>C	CCDS6813.1																																																																																				0.438	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		3	67	3	67	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92568223	92568223	+	Silent	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr11:92568223C>T	ENST00000298047.6	+	14	10076	c.10059C>T	c.(10057-10059)gaC>gaT	p.D3353D	FAT3_ENST00000525166.1_Silent_p.D3203D|FAT3_ENST00000409404.2_Silent_p.D3353D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3353	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCAGTGAAGACGCCTTGGTGG	0.488										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10057-10059)gaC>gaT		FAT atypical cadherin 3							49.0	49.0	49.0					11																	92568223		1937	4145	6082	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92568223C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10059C>T	11.37:g.92568223C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.D3353D|FAT3_ENST00000525166.1_Silent_p.D3203D	p.D3353D			Q8TDW7	FAT3_HUMAN			14	10076	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3353			Cadherin 31.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.10059C>T																																																																																					0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	19	4	19	---	---	---	---
TCTN2	79867	broad.mit.edu	37	12	124171429	124171429	+	Missense_Mutation	SNP	C	C	A	rs552564996		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr12:124171429C>A	ENST00000303372.5	+	6	739	c.611C>A	c.(610-612)aCc>aAc	p.T204N	TCTN2_ENST00000426174.2_Missense_Mutation_p.T203N	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	204					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TCCTGCTTCACCGGCGTGTTT	0.527																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(610-612)aCc>aAc		tectonic family member 2							224.0	180.0	195.0					12																	124171429		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124171429C>A	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.611C>A	12.37:g.124171429C>A	ENSP00000304941:p.Thr204Asn					TCTN2_ENST00000426174.2_Missense_Mutation_p.T203N	p.T204N	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	6	739	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		204					A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.611C>A	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.982958	0.34942	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.82984	-1.67;-1.67	5.65	4.76	0.60689	Domain of unknown function DUF1619 (1);	0.823596	0.10849	N	0.627393	D	0.84009	0.5378	M	0.65975	2.015	0.09310	N	1	P;P	0.39624	0.681;0.681	P;P	0.44860	0.462;0.462	T	0.71642	-0.4531	10	0.22706	T	0.39	-14.4698	11.9009	0.52682	0.1207:0.6185:0.2608:0.0	.	203;204	A8K7Y8;Q96GX1	.;TECT2_HUMAN	N	203;204	ENSP00000395171:T203N;ENSP00000304941:T204N	ENSP00000304941:T204N	T	+	2	0	TCTN2	122737382	0.001000	0.12720	0.010000	0.14722	0.104000	0.19210	1.439000	0.35013	1.356000	0.45884	0.644000	0.83932	ACC		0.527	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		54	78	54	78	---	---	---	---
ADAM21P1	145241	broad.mit.edu	37	14	70713623	70713623	+	RNA	SNP	T	T	C			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr14:70713623T>C	ENST00000530196.1	-	0	895					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CAAAATTATGTAAGTACCTAA	0.343																																						ENST00000530196.1																			0																																																			145241							g.chr14:70713623T>C			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713623T>C								NR_003951.1						0	895	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.343	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		25	25	25	25	---	---	---	---
PAPLN	89932	broad.mit.edu	37	14	73719446	73719446	+	Missense_Mutation	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr14:73719446C>T	ENST00000554301.1	+	10	1220	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	PAPLN_ENST00000381166.3_Missense_Mutation_p.R353C|PAPLN_ENST00000427855.1_Missense_Mutation_p.R353C|PAPLN_ENST00000555445.1_Missense_Mutation_p.R353C|PAPLN_ENST00000340738.5_Missense_Mutation_p.R326C			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	353	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGCTGACCGGCGTTCCTGCAA	0.632																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(1057-1059)Cgt>Tgt		papilin, proteoglycan-like sulfated glycoprotein							80.0	82.0	81.0					14																	73719446		2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73719446C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1057C>T	14.37:g.73719446C>T	ENSP00000451803:p.Arg353Cys					PAPLN_ENST00000381166.3_Missense_Mutation_p.R353C|PAPLN_ENST00000555445.1_Missense_Mutation_p.R353C|PAPLN_ENST00000340738.5_Missense_Mutation_p.R326C|PAPLN_ENST00000554301.1_Missense_Mutation_p.R353C	p.R353C			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	11	1159	+			353			TSP type-1 2.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.1057C>T		.	.	.	.	.	.	.	.	.	.	C	15.94	2.980140	0.53827	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.22	5.22	0.72569	.	.	.	.	.	D	0.85423	0.5693	H	0.96720	3.87	0.52501	D	0.999959	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.964;0.979;0.996	D	0.89823	0.3990	9	0.87932	D	0	.	13.7427	0.62857	0.1537:0.8463:0.0:0.0	.	353;353;326	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	C	326;353;353;353;353	ENSP00000345395:R326C;ENSP00000403403:R353C;ENSP00000370558:R353C;ENSP00000451803:R353C;ENSP00000451729:R353C	ENSP00000216658:R353C	R	+	1	0	PAPLN	72789199	1.000000	0.71417	0.045000	0.18777	0.139000	0.21198	3.680000	0.54641	2.427000	0.82271	0.462000	0.41574	CGT		0.632	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		50	99	50	99	---	---	---	---
KCNK10	54207	broad.mit.edu	37	14	88658679	88658679	+	Missense_Mutation	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr14:88658679C>T	ENST00000340700.5	-	5	1193	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	KCNK10_ENST00000312350.5_Missense_Mutation_p.V253M|KCNK10_ENST00000319231.5_Missense_Mutation_p.V253M	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	248					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGGATCGTCACAAACACAATG	0.498																																						ENST00000340700.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(742-744)Gtg>Atg		potassium channel, subfamily K, member 10							200.0	182.0	188.0					14																	88658679		2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88658679C>T	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.742G>A	14.37:g.88658679C>T	ENSP00000343104:p.Val248Met					KCNK10_ENST00000319231.5_Missense_Mutation_p.V253M|KCNK10_ENST00000312350.5_Missense_Mutation_p.V253M	p.V248M	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN			5	1193	-			248					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.742G>A	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079309	0.94050	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.34667	1.35;1.35;1.35	5.89	5.89	0.94794	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.97110	1.0;0.999;0.949	T	0.60840	-0.7183	10	0.62326	D	0.03	.	20.248	0.98401	0.0:1.0:0.0:0.0	.	248;253;253	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	M	248;253;253	ENSP00000343104:V248M;ENSP00000310568:V253M;ENSP00000312811:V253M	ENSP00000310568:V253M	V	-	1	0	KCNK10	87728432	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.790000	0.95986	0.655000	0.94253	GTG		0.498	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		40	96	40	96	---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	3917452	3917452	+	Missense_Mutation	SNP	T	T	C			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr17:3917452T>C	ENST00000381638.2	-	51	8469	c.8345A>G	c.(8344-8346)gAc>gGc	p.D2782G		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2782							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTTGCTCATGTCGGAGGTGAA	0.572																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(8344-8346)gAc>gGc		zinc finger, ZZ-type with EF-hand domain 1							104.0	85.0	92.0					17																	3917452		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3917452T>C	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8345A>G	17.37:g.3917452T>C	ENSP00000371051:p.Asp2782Gly						p.D2782G	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			51	8469	-			2782					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.8345A>G	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	31	5.093180	0.94149	.	.	ENSG00000074755	ENST00000381638	T	0.28069	1.63	5.69	5.69	0.88448	.	0.049433	0.85682	D	0.000000	T	0.39860	0.1094	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.65323	0.934	T	0.34800	-0.9814	10	0.56958	D	0.05	-19.9959	15.945	0.79787	0.0:0.0:0.0:1.0	.	2782	O43149	ZZEF1_HUMAN	G	2782	ENSP00000371051:D2782G	ENSP00000371051:D2782G	D	-	2	0	ZZEF1	3864201	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.694000	0.84235	2.159000	0.67721	0.533000	0.62120	GAC		0.572	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		6	56	6	56	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11833352	11833352	+	Missense_Mutation	SNP	A	A	G	rs547913025	byFrequency	TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr17:11833352A>G	ENST00000262442.4	+	63	12115	c.12047A>G	c.(12046-12048)aAt>aGt	p.N4016S	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.N328S|DNAH9_ENST00000454412.2_Intron	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4016	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGATCACCAATGAGCCCCCC	0.602													A|||	4	0.000798722	0.0008	0.0	5008	,	,		18794	0.0		0.0	False		,,,				2504	0.0031					ENST00000262442.4																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(12046-12048)aAt>aGt		dynein, axonemal, heavy chain 9							73.0	59.0	64.0					17																	11833352		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11833352A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12047A>G	17.37:g.11833352A>G	ENSP00000262442:p.Asn4016Ser					DNAH9_ENST00000608377.1_Missense_Mutation_p.N328S|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Intron	p.N4016S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	63	12115	+		Breast(5;0.0122)|all_epithelial(5;0.131)				AAA 6 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.12047A>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	15.04	2.714682	0.48622	.	.	ENSG00000007174	ENST00000262442;ENST00000396001	T;T	0.10668	2.85;2.85	5.19	-0.857	0.10693	Dynein heavy chain (1);	0.133902	0.64402	N	0.000003	T	0.28400	0.0702	M	0.90145	3.09	0.37488	D	0.916281	B	0.34264	0.446	P	0.48227	0.571	T	0.30736	-0.9968	10	0.56958	D	0.05	.	11.8831	0.52586	0.6791:0.0:0.3209:0.0	.	4016	Q9NYC9	DYH9_HUMAN	S	4016;328	ENSP00000262442:N4016S;ENSP00000379323:N328S	ENSP00000262442:N4016S	N	+	2	0	DNAH9	11774077	0.889000	0.30405	0.103000	0.21229	0.928000	0.56348	1.906000	0.39887	-0.376000	0.07943	-1.366000	0.01203	AAT		0.602	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		3	48	3	48	---	---	---	---
TRIM16	10626	broad.mit.edu	37	17	15532066	15532066	+	Missense_Mutation	SNP	G	G	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr17:15532066G>A	ENST00000578237.1	-	11	2413	c.1558C>T	c.(1558-1560)Cac>Tac	p.H520Y	TRIM16_ENST00000416464.2_Missense_Mutation_p.H390Y|TRIM16_ENST00000336708.7_Missense_Mutation_p.H520Y|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000577886.1_Missense_Mutation_p.H304Y|TRIM16_ENST00000579219.1_3'UTR			O95361	TRI16_HUMAN	tripartite motif containing 16	520	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		GCAAACTTGTGAACCAGAGTC	0.507																																						ENST00000578237.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19						c.(1558-1560)Cac>Tac		tripartite motif containing 16							77.0	76.0	76.0					17																	15532066		2203	4300	6503	SO:0001583	missense	10626							g.chr17:15532066G>A	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1558C>T	17.37:g.15532066G>A	ENSP00000463188:p.His520Tyr					TRIM16_ENST00000416464.2_Missense_Mutation_p.H390Y|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000336708.7_Missense_Mutation_p.H520Y|TRIM16_ENST00000577886.1_Missense_Mutation_p.H304Y	p.H520Y						UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)	11	2413	-								Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Missense_Mutation	SNP	ENST00000578237.1	37	c.1558C>T	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.051264	0.75960	.	.	ENSG00000221926	ENST00000336708;ENST00000416464	T;T	0.59364	0.27;0.27	4.72	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.68997	0.3062	L	0.47016	1.485	0.47659	D	0.999487	D;D	0.76494	0.999;0.999	D;D	0.69824	0.955;0.966	T	0.70525	-0.4848	9	0.52906	T	0.07	.	15.5482	0.76126	0.0:0.0:1.0:0.0	.	390;520	B3KP96;O95361	.;TRI16_HUMAN	Y	520;390	ENSP00000338989:H520Y;ENSP00000399918:H390Y	ENSP00000338989:H520Y	H	-	1	0	TRIM16	15472791	1.000000	0.71417	0.995000	0.50966	0.878000	0.50629	7.213000	0.77950	2.335000	0.79485	0.650000	0.86243	CAC		0.507	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		24	37	24	37	---	---	---	---
APLP1	333	broad.mit.edu	37	19	36362608	36362608	+	Missense_Mutation	SNP	C	C	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr19:36362608C>T	ENST00000221891.4	+	5	824	c.632C>T	c.(631-633)cCc>cTc	p.P211L	APLP1_ENST00000586861.1_Missense_Mutation_p.P205L|APLP1_ENST00000537454.2_Missense_Mutation_p.P172L|NPHS1_ENST00000591817.1_5'Flank	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	211	Zinc-binding.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGTGCTGTCCCCCTCCAGGG	0.637																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(631-633)cCc>cTc		amyloid beta (A4) precursor-like protein 1							102.0	91.0	95.0					19																	36362608		2203	4300	6503	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36362608C>T	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.632C>T	19.37:g.36362608C>T	ENSP00000221891:p.Pro211Leu					APLP1_ENST00000586861.1_Missense_Mutation_p.P205L|APLP1_ENST00000537454.2_Missense_Mutation_p.P172L	p.P211L	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	824	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		211			Zinc-binding.		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.632C>T	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578628	0.86645	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.96856	-3.96;-4.15	4.41	4.41	0.53225	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, extracellular domain conserved site (1);Amyloidogenic glycoprotein, copper-binding (3);	0.000000	0.45606	D	0.000345	D	0.97974	0.9333	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.986;1.0;1.0	D	0.98894	1.0774	10	0.87932	D	0	-15.0667	14.4685	0.67499	0.0:1.0:0.0:0.0	.	205;172;211;211	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	L	172;211	ENSP00000441501:P172L;ENSP00000221891:P211L	ENSP00000221891:P211L	P	+	2	0	APLP1	41054448	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.679000	0.74513	2.006000	0.58801	0.462000	0.41574	CCC		0.637	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		14	62	14	62	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41719856	41719856	+	Silent	SNP	G	G	T			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr21:41719856G>T	ENST00000400454.1	-	6	1428	c.951C>A	c.(949-951)acC>acA	p.T317T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	317	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGGACTGATGGTGGCTTTCA	0.473																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(949-951)acC>acA		Down syndrome cell adhesion molecule							53.0	49.0	50.0					21																	41719856		1926	4153	6079	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41719856G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.951C>A	21.37:g.41719856G>T							p.T317T	NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN			6	1428	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	317			Ig-like C2-type 4.		O60468	Silent	SNP	ENST00000400454.1	37	c.951C>A	CCDS42929.1																																																																																				0.473	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		3	9	3	9	---	---	---	---
TSPEAR	54084	broad.mit.edu	37	21	45953635	45953635	+	Missense_Mutation	SNP	T	T	A			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr21:45953635T>A	ENST00000323084.4	-	3	540	c.475A>T	c.(475-477)Aca>Tca	p.T159S	TSPEAR_ENST00000397916.1_Missense_Mutation_p.T91S	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	159	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AGGACCAGTGTGTGCCAGCGG	0.692																																						ENST00000323084.4																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						c.(475-477)Aca>Tca		thrombospondin-type laminin G domain and EAR repeats							28.0	28.0	28.0					21																	45953635		2195	4287	6482	SO:0001583	missense	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45953635T>A	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.475A>T	21.37:g.45953635T>A	ENSP00000321987:p.Thr159Ser					TSPEAR_ENST00000397916.1_Missense_Mutation_p.T91S	p.T159S	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN			3	540	-			159			TSP N-terminal.			Missense_Mutation	SNP	ENST00000323084.4	37	c.475A>T	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	t	13.98	2.398789	0.42512	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	T;T	0.01998	4.51;4.51	4.99	3.83	0.44106	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.103078	0.64402	D	0.000003	T	0.03263	0.0095	M	0.67953	2.075	0.58432	D	0.99999	P	0.45474	0.859	B	0.39840	0.311	T	0.57388	-0.7820	10	0.16420	T	0.52	10.8461	10.5496	0.45081	0.0:0.0772:0.0:0.9228	.	159	Q8WU66	TSEAR_HUMAN	S	159;91;159	ENSP00000321987:T159S;ENSP00000381012:T91S	ENSP00000321987:T159S	T	-	1	0	TSPEAR	44778063	1.000000	0.71417	0.993000	0.49108	0.058000	0.15608	5.516000	0.67055	0.726000	0.32339	0.533000	0.62120	ACA		0.692	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991		15	31	15	31	---	---	---	---
SGSM3	27352	broad.mit.edu	37	22	40802485	40802485	+	Missense_Mutation	SNP	A	A	G			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr22:40802485A>G	ENST00000248929.9	+	10	1193	c.1004A>G	c.(1003-1005)aAc>aGc	p.N335S	SGSM3_ENST00000454798.2_Missense_Mutation_p.N268S	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCCATCTTCAACACGCTATCG	0.627																																						ENST00000248929.9																			0				cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						c.(1003-1005)aAc>aGc		small G protein signaling modulator 3							50.0	34.0	39.0					22																	40802485		2203	4300	6503	SO:0001583	missense	27352				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	g.chr22:40802485A>G	AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.1004A>G	22.37:g.40802485A>G	ENSP00000248929:p.Asn335Ser					SGSM3_ENST00000454798.2_Missense_Mutation_p.N268S	p.N335S	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN			10	1193	+			335						Missense_Mutation	SNP	ENST00000248929.9	37	c.1004A>G	CCDS14002.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495705	0.85069	.	.	ENSG00000100359	ENST00000248929;ENST00000545416;ENST00000454798	T;T	0.21361	2.01;2.01	5.57	5.57	0.84162	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.42108	0.1188	M	0.75615	2.305	0.80722	D	1	D;D;P;B	0.61697	0.99;0.99;0.699;0.369	P;P;B;B	0.57620	0.824;0.824;0.237;0.082	T	0.30563	-0.9974	10	0.45353	T	0.12	.	15.7234	0.77732	1.0:0.0:0.0:0.0	.	272;268;335;335	B4DVE3;B4DMS2;Q96HU1-2;Q96HU1	.;.;.;SGSM3_HUMAN	S	335;278;268	ENSP00000248929:N335S;ENSP00000390998:N268S	ENSP00000248929:N335S	N	+	2	0	SGSM3	39132431	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	8.895000	0.92512	2.120000	0.65058	0.383000	0.25322	AAC		0.627	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705		5	36	5	36	---	---	---	---
ATP6AP2	10159	broad.mit.edu	37	X	40457949	40457949	+	Missense_Mutation	SNP	T	T	C			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chrX:40457949T>C	ENST00000378438.4	+	6	709	c.551T>C	c.(550-552)cTt>cCt	p.L184P	ATP6AP2_ENST00000535777.1_Missense_Mutation_p.L106P|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.L108P|ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.L152P	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	184					angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(2)	4						CTGCTCTTTCTTTCTGAACTG	0.363																																						ENST00000378438.4																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(550-552)cTt>cCt		ATPase, H+ transporting, lysosomal accessory protein 2							209.0	189.0	196.0					X																	40457949		2203	4300	6503	SO:0001583	missense	10159				angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity	g.chrX:40457949T>C	AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"""prorenin receptor"", ""renin receptor"""	300556	"""ATPase, H+ transporting, lysosomal interacting protein 2"""	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.551T>C	X.37:g.40457949T>C	ENSP00000367697:p.Leu184Pro					ATP6AP2_ENST00000544975.1_Missense_Mutation_p.L108P|ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.L106P|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.L152P	p.L184P	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN			6	709	+			184					B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Missense_Mutation	SNP	ENST00000378438.4	37	c.551T>C	CCDS14252.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.64|19.64	3.865483|3.865483	0.71949|0.71949	.|.	.|.	ENSG00000182220|ENSG00000182220	ENST00000538655;ENST00000447485|ENST00000535539;ENST00000378438;ENST00000436783;ENST00000544975;ENST00000535777	.|T;T;T;T;T	.|0.73897	.|1.26;1.17;0.48;1.18;-0.79	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.056673	.|0.64402	.|D	.|0.000001	D|D	0.85548|0.85548	0.5722|0.5722	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.998;1.0;0.999;1.0	.|D;D;D;D	.|0.91635	.|0.951;0.999;0.959;0.979	D|D	0.87287|0.87287	0.2296|0.2296	5|10	.|0.72032	.|D	.|0.01	-0.2496|-0.2496	14.7042|14.7042	0.69176|0.69176	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|106;152;108;184	.|B7Z1I9;B7Z9I3;B7Z413;O75787	.|.;.;.;RENR_HUMAN	L|P	147;159|152;184;184;108;106	.|ENSP00000438415:L152P;ENSP00000367697:L184P;ENSP00000403969:L184P;ENSP00000440459:L108P;ENSP00000441536:L106P	.|ENSP00000367697:L184P	F|L	+|+	1|2	0|0	ATP6AP2|ATP6AP2	40342893|40342893	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.993000|0.993000	0.82548|0.82548	7.136000|7.136000	0.77285|0.77285	1.921000|1.921000	0.55644|0.55644	0.417000|0.417000	0.27973|0.27973	TTT|CTT		0.363	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060679.1	NM_005765		33	24	33	24	---	---	---	---
DMTF1	9988	broad.mit.edu	37	7	86795841	86795851	+	Frame_Shift_Del	DEL	ATAAAAGGCTT	ATAAAAGGCTT	-			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr7:86795841_86795851delATAAAAGGCTT	ENST00000394703.5	+	6	715_725	c.152_162delATAAAAGGCTT	c.(151-162)cataaaaggcttfs	p.HKRL51fs	DMTF1_ENST00000394702.3_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000413276.2_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000331242.7_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000411766.2_Intron|DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000432937.2_5'UTR	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	51	Interaction with CCND2. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GAACCTCCACATAAAAGGCTTTGTTTGTCCT	0.365																																						ENST00000394703.5																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(151-162)cataaaaggcttfs		cyclin D binding myb-like transcription factor 1																																				SO:0001589	frameshift_variant	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86795841_86795851delATAAAAGGCTT	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.152_162delATAAAAGGCTT	7.37:g.86795841_86795851delATAAAAGGCTT	ENSP00000378193:p.His51fs					DMTF1_ENST00000413276.2_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000394702.3_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000331242.7_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000432937.2_5'UTR|DMTF1_ENST00000411766.2_Intron|DMTF1_ENST00000414194.2_5'UTR	p.HKRL51fs	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN			6	715_725	+	Esophageal squamous(14;0.0058)		51			Interaction with CCND2 (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Frame_Shift_Del	DEL	ENST00000394703.5	37	c.152_162delATAAAAGGCTT	CCDS5601.1																																																																																				0.365	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		8	42	8	42	---	---	---	---
