#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
PRDM8	56978	broad.mit.edu	37	4	81123252	81123252	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr4:81123252G>C	ENST00000504452.1	+	8	1475	c.636G>C	c.(634-636)caG>caC	p.Q212H	PRDM8_ENST00000415738.2_Missense_Mutation_p.Q212H|PRDM8_ENST00000339711.4_Missense_Mutation_p.Q212H			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	212	Gly-rich.|Poly-Gln.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcaaagaccagcagcagcagc	0.652											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(634-636)caG>caC		PR domain containing 8							21.0	27.0	25.0					4																	81123252		2021	4184	6205	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123252G>C	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.636G>C	4.37:g.81123252G>C	ENSP00000423985:p.Gln212His		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_Missense_Mutation_p.Q212H|PRDM8_ENST00000415738.2_Missense_Mutation_p.Q212H	p.Q212H	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1867	+			212			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.636G>C	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	G	3.493	-0.103514	0.06967	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.65916	-0.18;0.4;-0.18;-0.18	4.62	-4.47	0.03525	.	5.058670	0.00559	N	0.000261	T	0.46132	0.1377	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26985	-1.0087	10	0.29301	T	0.29	.	8.4825	0.33052	0.2299:0.4579:0.3122:0.0	.	212	Q9NQV8	PRDM8_HUMAN	H	212	ENSP00000423985:Q212H;ENSP00000425149:Q212H;ENSP00000339764:Q212H;ENSP00000406998:Q212H	ENSP00000339764:Q212H	Q	+	3	2	PRDM8	81342276	0.732000	0.28121	0.000000	0.03702	0.003000	0.03518	-1.260000	0.02858	-1.567000	0.01671	-2.229000	0.00292	CAG		0.652	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			3	39	0	0	0	1	0	3	39				
MYH11	4629	broad.mit.edu	37	16	15814136	15814136	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr16:15814136G>A	ENST00000300036.5	-	34	4934	c.4825C>T	c.(4825-4827)Cga>Tga	p.R1609*	MYH11_ENST00000452625.2_Nonsense_Mutation_p.R1616*|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_Nonsense_Mutation_p.R1616*|MYH11_ENST00000576790.2_Nonsense_Mutation_p.R1609*|NDE1_ENST00000396355.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1609					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGTTGCTTTCGCTCGTCTTCC	0.587			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(4825-4827)Cga>Tga		myosin, heavy chain 11, smooth muscle							96.0	79.0	85.0					16																	15814136		2197	4300	6497	SO:0001587	stop_gained	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15814136G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4825C>T	16.37:g.15814136G>A	ENSP00000300036:p.Arg1609*					NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000300036.5_Nonsense_Mutation_p.R1609*|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Nonsense_Mutation_p.R1616*|MYH11_ENST00000396324.3_Nonsense_Mutation_p.R1616*|MYH11_ENST00000576790.1_Nonsense_Mutation_p.R1609*	p.R1609*	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			34	4931	-			1609					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Nonsense_Mutation	SNP	ENST00000300036.5	37	c.4825C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	44	11.271435	0.99539	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	.	.	.	5.04	3.02	0.34903	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	12.9127	0.58189	0.0:0.0:0.6791:0.3209	.	.	.	.	X	1609;1609;1616;1616;1616	.	ENSP00000300036:R1609X	R	-	1	2	MYH11	15721637	1.000000	0.71417	0.799000	0.32177	0.712000	0.41017	3.063000	0.49978	0.474000	0.27392	0.650000	0.86243	CGA		0.587	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		3	17	0	0	0	1	0	3	17				
HRNR	388697	broad.mit.edu	37	1	152187688	152187688	+	Silent	SNP	T	T	C			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr1:152187688T>C	ENST00000368801.2	-	3	6492	c.6417A>G	c.(6415-6417)agA>agG	p.R2139R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2139					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGTCCTGATCTAGAGCCGT	0.577																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6415-6417)agA>agG		hornerin							170.0	189.0	183.0					1																	152187688		1592	3264	4856	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187688T>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6417A>G	1.37:g.152187688T>C						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R2139R	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6492	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2139					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6417A>G	CCDS30859.1																																																																																				0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		8	837	0	0	0	1	0	8	837				
FREM2	341640	broad.mit.edu	37	13	39263438	39263438	+	Silent	SNP	C	C	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr13:39263438C>T	ENST00000280481.7	+	1	2173	c.1957C>T	c.(1957-1959)Ctg>Ttg	p.L653L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	653					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGAGGGCAGGCTGTTCTATAG	0.532																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1957-1959)Ctg>Ttg		FRAS1 related extracellular matrix protein 2							72.0	66.0	68.0					13																	39263438		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263438C>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1957C>T	13.37:g.39263438C>T							p.L653L	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2173	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	653					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.1957C>T	CCDS31960.1																																																																																				0.532	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		7	24	0	0	0	1	0	7	24				
FHOD3	80206	broad.mit.edu	37	18	34340703	34340703	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr18:34340703A>C	ENST00000359247.4	+	22	3982	c.3982A>C	c.(3982-3984)Acc>Ccc	p.T1328P	FHOD3_ENST00000445677.1_Missense_Mutation_p.T1307P|FHOD3_ENST00000257209.4_Missense_Mutation_p.T1345P|FHOD3_ENST00000591635.1_Missense_Mutation_p.T541P|FHOD3_ENST00000592128.1_Missense_Mutation_p.T324P|FHOD3_ENST00000590592.1_Missense_Mutation_p.T1528P	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1328					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.T1345P(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGAGGACGCCACCCCCGCGCT	0.682																																						ENST00000257209.4																			1	Substitution - Missense(1)	p.T1345P(1)	prostate(1)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(4033-4035)Acc>Ccc		formin homology 2 domain containing 3							25.0	24.0	24.0					18																	34340703		2198	4297	6495	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34340703A>C	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3982A>C	18.37:g.34340703A>C	ENSP00000352186:p.Thr1328Pro					FHOD3_ENST00000590592.1_Missense_Mutation_p.T1528P|FHOD3_ENST00000592128.1_Missense_Mutation_p.T324P|FHOD3_ENST00000591635.1_Missense_Mutation_p.T541P|FHOD3_ENST00000445677.1_Missense_Mutation_p.T1307P|FHOD3_ENST00000359247.4_Missense_Mutation_p.T1328P	p.T1345P	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			23	4155	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	1328					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.4033A>C		.	.	.	.	.	.	.	.	.	.	A	11.13	1.548235	0.27652	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.32988	1.44;1.43;1.44	3.65	2.48	0.30137	Actin-binding FH2/DRF autoregulatory (1);	0.429660	0.29730	N	0.011354	T	0.36826	0.0981	L	0.47716	1.5	0.37297	D	0.908503	D;D;P	0.58268	0.982;0.969;0.886	P;P;B	0.56612	0.802;0.638;0.429	T	0.20472	-1.0274	10	0.37606	T	0.19	.	8.4776	0.33023	0.8148:0.0:0.1852:0.0	.	1307;1328;1345	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	P	1345;1328;1307	ENSP00000257209:T1345P;ENSP00000352186:T1328P;ENSP00000411430:T1307P	ENSP00000257209:T1345P	T	+	1	0	FHOD3	32594701	0.029000	0.19370	0.828000	0.32881	0.446000	0.32137	0.803000	0.27083	0.259000	0.21709	-1.777000	0.00654	ACC		0.682	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		11	23	0	0	0	1	0	11	23				
PCDH10	57575	broad.mit.edu	37	4	134073272	134073272	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr4:134073272G>C	ENST00000264360.5	+	1	2803	c.1977G>C	c.(1975-1977)gaG>gaC	p.E659D		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	659	Cadherin 6. {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)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGTGATCGAGGTGCGCGACC	0.711																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1975-1977)gaG>gaC		protocadherin 10							18.0	21.0	20.0					4																	134073272		2190	4290	6480	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073272G>C	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1977G>C	4.37:g.134073272G>C	ENSP00000264360:p.Glu659Asp						p.E659D	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2803	+			659			Cadherin 6.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1977G>C	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232540	0.39498	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.39229	1.09	4.47	3.58	0.41010	Cadherin (4);Cadherin-like (1);	0.000000	0.44285	D	0.000477	T	0.51873	0.1700	L	0.56769	1.78	0.58432	D	0.999992	D;P	0.71674	0.998;0.645	D;P	0.80764	0.994;0.707	T	0.50591	-0.8810	10	0.13108	T	0.6	.	7.7283	0.28773	0.204:0.0:0.796:0.0	.	659;659	Q9P2E7;Q96SF0	PCD10_HUMAN;.	D	659	ENSP00000264360:E659D	ENSP00000264360:E659D	E	+	3	2	PCDH10	134292722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.549000	0.60726	1.012000	0.39366	0.655000	0.94253	GAG		0.711	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		6	23	0	0	0	1	0	6	23				
LRP1B	53353	broad.mit.edu	37	2	141108382	141108382	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:141108382G>T	ENST00000389484.3	-	77	12847	c.11876C>A	c.(11875-11877)gCa>gAa	p.A3959E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3959					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCACTGTTTGCTTGCCTTTT	0.318										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(11875-11877)gCa>gAa		low density lipoprotein receptor-related protein 1B							68.0	70.0	69.0					2																	141108382		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141108382G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11876C>A	2.37:g.141108382G>T	ENSP00000374135:p.Ala3959Glu	TSP Lung(27;0.18)					p.A3959E	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	77	12847	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3959					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11876C>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.808|2.808	-0.247595|-0.247595	0.05867|0.05867	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.90676|.	-2.71|.	5.48|5.48	4.6|4.6	0.57074|0.57074	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	0.539150|.	0.16804|.	N|.	0.198852|.	T|T	0.24547|0.24547	0.0595|0.0595	N|N	0.14661|0.14661	0.345|0.345	0.24143|0.24143	N|N	0.995726|0.995726	B|.	0.21606|.	0.058|.	B|.	0.18561|.	0.022|.	T|T	0.18335|0.18335	-1.0340|-1.0340	10|5	0.24483|.	T|.	0.36|.	.|.	10.6749|10.6749	0.45781|0.45781	0.0764:0.168:0.7556:0.0|0.0764:0.168:0.7556:0.0	.|.	3959|.	Q9NZR2|.	LRP1B_HUMAN|.	E|K	3959;3897|191	ENSP00000374135:A3959E|.	ENSP00000374135:A3959E|.	A|Q	-|-	2|1	0|0	LRP1B|LRP1B	140824852|140824852	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.777000|0.777000	0.43975|0.43975	4.069000|4.069000	0.57541|0.57541	1.452000|1.452000	0.47756|0.47756	-0.140000|-0.140000	0.14226|0.14226	GCA|CAA		0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	38	1	0	0.00198382	1	0.0021132	7	38				
HFM1	164045	broad.mit.edu	37	1	91846485	91846485	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr1:91846485G>A	ENST00000370425.3	-	7	955	c.857C>T	c.(856-858)tCc>tTc	p.S286F	HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	286					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAAGGCCTTGGACTGTATATA	0.279																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(856-858)tCc>tTc		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							53.0	63.0	59.0					1																	91846485		2193	4286	6479	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91846485G>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.857C>T	1.37:g.91846485G>A	ENSP00000359454:p.Ser286Phe					HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_5'UTR	p.S286F	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	7	955	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	286					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.857C>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700248	0.88924	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819	T	0.16196	2.36	5.81	5.81	0.92471	DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.47093	U	0.000246	T	0.50292	0.1607	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.62969	-0.6741	10	0.87932	D	0	.	20.0782	0.97758	0.0:0.0:1.0:0.0	.	286;286	B7ZM16;A2PYH4	.;HFM1_HUMAN	F	286;319;145	ENSP00000359454:S286F	ENSP00000359454:S286F	S	-	2	0	HFM1	91619073	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.150000	0.94667	2.746000	0.94184	0.655000	0.94253	TCC		0.279	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		9	45	0	0	0	1	0	9	45				
ADD2	119	broad.mit.edu	37	2	70906069	70906069	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:70906069G>C	ENST00000264436.4	-	11	1594	c.1150C>G	c.(1150-1152)Cgc>Ggc	p.R384G	ADD2_ENST00000413157.2_Missense_Mutation_p.R384G|ADD2_ENST00000430656.1_Missense_Mutation_p.R400G|ADD2_ENST00000407644.2_Missense_Mutation_p.R384G|ADD2_ENST00000355733.3_Missense_Mutation_p.R384G	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	384					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.R384G(2)|p.R400G(1)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AAGGGGTGGCGATACGTGTAA	0.498																																						ENST00000264436.3																			3	Substitution - Missense(3)	p.R384G(2)|p.R400G(1)	lung(3)	autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(1150-1152)Cgc>Ggc		adducin 2 (beta)							149.0	141.0	144.0					2																	70906069		2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70906069G>C	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1150C>G	2.37:g.70906069G>C	ENSP00000264436:p.Arg384Gly					ADD2_ENST00000430656.1_Missense_Mutation_p.R400G|ADD2_ENST00000413157.2_Missense_Mutation_p.R384G|ADD2_ENST00000355733.3_Missense_Mutation_p.R384G|ADD2_ENST00000407644.2_Missense_Mutation_p.R384G	p.R384G	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			11	1594	-			384					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.1150C>G	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932863	0.73442	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	M	0.85373	2.75	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.998;0.998;0.996	T	0.52170	-0.8611	10	0.87932	D	0	-18.6857	16.343	0.83101	0.0:0.0:1.0:0.0	.	400;384;384;384	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	G	384;384;384;384;384;400	ENSP00000264436:R384G;ENSP00000384677:R384G;ENSP00000347972:R384G;ENSP00000388072:R384G;ENSP00000398112:R400G	ENSP00000264436:R384G	R	-	1	0	ADD2	70759577	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	6.394000	0.73223	2.716000	0.92895	0.655000	0.94253	CGC		0.498	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		16	68	0	0	0	1	0	16	68				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		6	312	0	0	0	1	0	6	312				
ARSF	416	broad.mit.edu	37	X	2990116	2990116	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chrX:2990116C>A	ENST00000381127.1	+	3	282	c.61C>A	c.(61-63)Cag>Aag	p.Q21K	ARSF_ENST00000537104.1_Missense_Mutation_p.Q21K|ARSF_ENST00000359361.2_Missense_Mutation_p.Q21K	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	21				CQAHRVHDDK -> WPGHTGCMTTR (in Ref. 1; CAA66462). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAACACATGCCAGGCACACAG	0.493																																						ENST00000381127.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(61-63)Cag>Aag		arylsulfatase F							210.0	159.0	177.0					X																	2990116		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:2990116C>A	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.61C>A	X.37:g.2990116C>A	ENSP00000370519:p.Gln21Lys					ARSF_ENST00000359361.2_Missense_Mutation_p.Q21K|ARSF_ENST00000537104.1_Missense_Mutation_p.Q21K	p.Q21K	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN			3	282	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	21	CQAHRVHDDK -> WPGHTGCMTTR (in Ref. 1; CAA66462).				Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.61C>A	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	c	0.547	-0.851281	0.02651	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.95724	-3.79;-3.79;-3.79	2.46	-1.33	0.09172	.	2.298270	0.02908	U	0.136388	D	0.87822	0.6274	N	0.20574	0.59	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.79836	-0.1635	10	0.07482	T	0.82	.	2.2587	0.04061	0.165:0.3773:0.3263:0.1315	.	21	P54793	ARSF_HUMAN	K	21	ENSP00000370519:Q21K;ENSP00000445594:Q21K;ENSP00000352319:Q21K	ENSP00000352319:Q21K	Q	+	1	0	ARSF	3000116	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.958000	0.01519	0.078000	0.16900	0.415000	0.27848	CAG		0.493	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			10	12	1	0	0.000442599	1	0.000492895	10	12				
PHACTR4	65979	broad.mit.edu	37	1	28800433	28800433	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr1:28800433G>C	ENST00000373839.3	+	7	1452	c.1191G>C	c.(1189-1191)agG>agC	p.R397S	PHACTR4_ENST00000373836.3_Missense_Mutation_p.R407S|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	397	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCAAGAGGATACTGGACC	0.512																																						ENST00000373839.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1189-1191)agG>agC		phosphatase and actin regulator 4							72.0	73.0	72.0					1																	28800433		1888	4110	5998	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800433G>C	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1191G>C	1.37:g.28800433G>C	ENSP00000362945:p.Arg397Ser					PHACTR4_ENST00000373836.3_Missense_Mutation_p.R407S|PHACTR4_ENST00000493669.1_3'UTR	p.R397S	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1452	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	397			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.1191G>C	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033599	0.35893	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.23348	1.91;1.94	5.75	2.87	0.33458	.	0.485801	0.23756	N	0.044876	T	0.11580	0.0282	N	0.16478	0.41	0.31005	N	0.71987	P;P	0.38504	0.634;0.501	B;B	0.34242	0.178;0.086	T	0.19811	-1.0294	10	0.07990	T	0.79	-2.3338	8.8223	0.35034	0.232:0.0:0.768:0.0	.	407;397	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	S	397;407;396	ENSP00000362945:R397S;ENSP00000362942:R407S	ENSP00000362942:R407S	R	+	3	2	PHACTR4	28673020	0.998000	0.40836	0.959000	0.39883	0.994000	0.84299	1.904000	0.39868	0.356000	0.24157	0.655000	0.94253	AGG		0.512	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		6	37	0	0	0	1	0	6	37				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		5	48	0	0	0	1	0	5	48				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>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.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	81	0	0	0	1	0	5	81				
TSHZ1	10194	broad.mit.edu	37	18	73000203	73000203	+	Silent	SNP	G	G	A			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr18:73000203G>A	ENST00000580243.1	+	2	3189	c.2841G>A	c.(2839-2841)gtG>gtA	p.V947V	TSHZ1_ENST00000322038.5_Silent_p.V902V			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	947					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TGGCCAATGTGAAGTACCAGT	0.522																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(2704-2706)gtG>gtA		teashirt zinc finger homeobox 1							71.0	60.0	64.0					18																	73000203		2203	4300	6503	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:73000203G>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2841G>A	18.37:g.73000203G>A						TSHZ1_ENST00000580243.1_Silent_p.V947V	p.V902V	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	3290	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	947					O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.2706G>A																																																																																					0.522	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		7	26	0	0	0	1	0	7	26				
LINC00969	440993	broad.mit.edu	37	3	195400799	195400799	+	lincRNA	SNP	G	G	A	rs7635172		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr3:195400799G>A	ENST00000445430.1	+	0	1395									long intergenic non-protein coding RNA 969																		CAAACTCGCTGTTGGACCTGG	0.597																																						ENST00000445430.1																			0																																																			0							g.chr3:195400799G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400799G>A														0	1395	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	9	0	0	0	1	0	5	9				
ATP12A	479	broad.mit.edu	37	13	25283890	25283890	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr13:25283890G>A	ENST00000381946.3	+	19	2854	c.2687G>A	c.(2686-2688)cGc>cAc	p.R896H	ATP12A_ENST00000218548.6_Missense_Mutation_p.R902H			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	896					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.R896H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TTTCTGCCCCGCACTCTCATT	0.527																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			1	Substitution - Missense(1)	p.R896H(1)	large_intestine(1)	breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(2704-2706)cGc>cAc		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						136.0	134.0	134.0					13																	25283890		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25283890G>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2687G>A	13.37:g.25283890G>A	ENSP00000371372:p.Arg896His					ATP12A_ENST00000381946.3_Missense_Mutation_p.R896H	p.R902H	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	19	3038	+		Lung SC(185;0.0225)|Breast(139;0.077)	896					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.2705G>A	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	1.603	-0.526076	0.04141	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.88741	-2.42;-2.42	6.03	-3.41	0.04839	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	1.216330	0.05322	N	0.526781	T	0.71031	0.3292	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.59899	-0.7367	10	0.15066	T	0.55	.	9.6025	0.39612	0.3765:0.4958:0.1277:0.0	.	902;896	P54707-2;P54707	.;AT12A_HUMAN	H	902;896	ENSP00000218548:R902H;ENSP00000371372:R896H	ENSP00000218548:R902H	R	+	2	0	ATP12A	24181890	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.215000	0.17562	-0.305000	0.08831	-0.885000	0.02943	CGC		0.527	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		14	103	0	0	0	1	0	14	103				
ZNF554	115196	broad.mit.edu	37	19	2833764	2833764	+	Silent	SNP	A	A	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr19:2833764A>T	ENST00000317243.5	+	5	729	c.531A>T	c.(529-531)atA>atT	p.I177I	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAAATATGATAAAGCTTATCA	0.463																																						ENST00000317243.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(529-531)atA>atT		zinc finger protein 554							77.0	79.0	79.0					19																	2833764		1863	4109	5972	SO:0001819	synonymous_variant	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2833764A>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.531A>T	19.37:g.2833764A>T						ZNF554_ENST00000591265.1_3'UTR	p.I177I	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	729	+		Hepatocellular(1079;0.137)	177					Q8NAT3|Q9BWN3	Silent	SNP	ENST00000317243.5	37	c.531A>T	CCDS42462.1																																																																																				0.463	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		3	58	0	0	0	1	0	3	58				
NPHP1	4867	broad.mit.edu	37	2	110922636	110922636	+	Nonsense_Mutation	SNP	T	T	A			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:110922636T>A	ENST00000393272.3	-	7	818	c.721A>T	c.(721-723)Aag>Tag	p.K241*	NPHP1_ENST00000417665.1_Nonsense_Mutation_p.K241*|NPHP1_ENST00000316534.4_Nonsense_Mutation_p.K241*|NPHP1_ENST00000445609.2_Nonsense_Mutation_p.K241*|NPHP1_ENST00000355301.4_Nonsense_Mutation_p.K179*	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	241					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TACCTTTGCTTAACTTCTGCT	0.348																																						ENST00000316534.4																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(721-723)Aag>Tag		nephronophthisis 1 (juvenile)							185.0	170.0	175.0					2																	110922636		2203	4300	6503	SO:0001587	stop_gained	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110922636T>A	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.721A>T	2.37:g.110922636T>A	ENSP00000376953:p.Lys241*					NPHP1_ENST00000445609.2_Nonsense_Mutation_p.K241*|NPHP1_ENST00000355301.4_Nonsense_Mutation_p.K179*|NPHP1_ENST00000417665.1_Nonsense_Mutation_p.K241*|NPHP1_ENST00000393272.3_Nonsense_Mutation_p.K241*	p.K241*			O15259	NPHP1_HUMAN			7	794	-			241					O14837	Nonsense_Mutation	SNP	ENST00000393272.3	37	c.721A>T	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	T	33	5.208049	0.95033	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	.	.	.	5.15	3.99	0.46301	.	0.362231	0.31370	N	0.007774	.	.	.	.	.	.	0.23425	N	0.997701	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6479	9.0306	0.36256	0.0:0.0888:0.0:0.9112	.	.	.	.	X	241;241;241;179;241	.	ENSP00000313169:K241X	K	-	1	0	NPHP1	110279925	0.390000	0.25213	0.017000	0.16124	0.979000	0.70002	1.670000	0.37502	0.807000	0.34208	0.460000	0.39030	AAG		0.348	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272		14	52	0	0	0	1	0	14	52				
METRNL	284207	broad.mit.edu	37	17	81042876	81042876	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr17:81042876G>T	ENST00000320095.7	+	2	358	c.233G>T	c.(232-234)gGt>gTt	p.G78V	METRNL_ENST00000571814.1_5'UTR|METRNL_ENST00000570778.1_5'UTR	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	78					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TGTGCGGCGGGTGCCGTGGAG	0.642																																						ENST00000320095.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8						c.(232-234)gGt>gTt		meteorin, glial cell differentiation regulator-like							112.0	113.0	113.0					17																	81042876		2203	4300	6503	SO:0001583	missense	284207					extracellular region		g.chr17:81042876G>T	AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.233G>T	17.37:g.81042876G>T	ENSP00000315731:p.Gly78Val					METRNL_ENST00000571814.1_5'UTR|METRNL_ENST00000570778.1_5'UTR	p.G78V	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)		2	358	+	Breast(20;0.000443)|all_neural(118;0.0779)		78					B3KSJ5|Q86VM0	Missense_Mutation	SNP	ENST00000320095.7	37	c.233G>T	CCDS32779.1	.	.	.	.	.	.	.	.	.	.	g	15.90	2.970812	0.53614	.	.	ENSG00000176845	ENST00000320095	.	.	.	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78745	-0.2084	8	.	.	.	-28.677	14.3274	0.66530	0.0:0.0:1.0:0.0	.	78	Q641Q3	METRL_HUMAN	V	78	.	.	G	+	2	0	METRNL	78636165	1.000000	0.71417	0.160000	0.22671	0.130000	0.20726	8.784000	0.91818	2.323000	0.78572	0.450000	0.29827	GGT		0.642	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1	NM_001004431		12	42	1	0	0.00010058	1	0.000117343	12	42				
MYPN	84665	broad.mit.edu	37	10	69881645	69881645	+	Silent	SNP	T	T	C			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr10:69881645T>C	ENST00000358913.5	+	2	938	c.450T>C	c.(448-450)ttT>ttC	p.F150F	MYPN_ENST00000540630.1_Silent_p.F150F|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Silent_p.F150F	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	150	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAAAAGTATTTTTAAATAAGG	0.458																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(448-450)ttT>ttC		myopalladin							43.0	44.0	44.0					10																	69881645		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69881645T>C	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.450T>C	10.37:g.69881645T>C						MYPN_ENST00000540630.1_Silent_p.F150F|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Silent_p.F150F	p.F150F	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			2	938	+			150			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.450T>C	CCDS7275.1																																																																																				0.458	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		5	29	0	0	0	1	0	5	29				
KRT38	8687	broad.mit.edu	37	17	39595066	39595066	+	Silent	SNP	A	A	G			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr17:39595066A>G	ENST00000246646.3	-	4	776	c.777T>C	c.(775-777)atT>atC	p.I259I		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	259	Linker 12.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TGTCCAGCTCAATCCGGAGCT	0.567																																						ENST00000246646.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(775-777)atT>atC		keratin 38							139.0	135.0	136.0					17																	39595066		2203	4300	6503	SO:0001819	synonymous_variant	8687					intermediate filament	structural molecule activity	g.chr17:39595066A>G	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.777T>C	17.37:g.39595066A>G							p.I259I	NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN			4	776	-		Breast(137;0.000496)	259			Linker 12.|Rod.		A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	c.777T>C	CCDS11392.1																																																																																				0.567	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		4	90	0	0	0	1	0	4	90				
CROCCP2	84809	broad.mit.edu	37	1	16945409	16945409	+	lincRNA	SNP	T	T	A	rs13566	byFrequency	TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr1:16945409T>A	ENST00000412962.1	-	0	2110				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCGGGATAGCTCGGTGGAGAG	0.612													.|||	1533	0.30611	0.2254	0.3473	5008	,	,		64331	0.2113		0.3767	False		,,,				2504	0.411					ENST00000412962.1																			0																																																			0							g.chr1:16945409T>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945409T>A														0	2110	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.612	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	58	0	0	0	1	0	5	58				
RAP1GAP	5909	broad.mit.edu	37	1	21924940	21924940	+	Missense_Mutation	SNP	G	G	A	rs375344378		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr1:21924940G>A	ENST00000374765.4	-	22	2032	c.1832C>T	c.(1831-1833)aCg>aTg	p.T611M	RAP1GAP_ENST00000374761.2_Missense_Mutation_p.T642M|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.T675M|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.T696M|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.T637M	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	611					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CTCCAGCCACGTGCTATAGAT	0.607																																						ENST00000542643.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17						c.(1909-1911)aCg>aTg		RAP1 GTPase activating protein		G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	94.0	79.0	84.0		1910,2024,1832	3.8	1.0	1		84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RAP1GAP	NM_001145657.1,NM_001145658.1,NM_002885.2	81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	637/682,675/728,611/664	21924940	1,13005	2203	4300	6503	SO:0001583	missense	5909				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding	g.chr1:21924940G>A	BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"""RAP1, GTPase activating protein 1"""	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1832C>T	1.37:g.21924940G>A	ENSP00000363897:p.Thr611Met					RAP1GAP_ENST00000374765.4_Missense_Mutation_p.T611M|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.T696M|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.T675M|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.T642M	p.T637M	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)	24	2212	-		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	611					J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	ENST00000374765.4	37	c.1910C>T	CCDS218.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333247	0.81801	0.0	1.16E-4	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763	D;D;D;D	0.89875	-2.56;-2.56;-2.58;-2.55	4.72	3.8	0.43715	.	0.527792	0.16123	N	0.228546	D	0.87680	0.6238	L	0.27053	0.805	0.37578	D	0.919698	D;D;D;D	0.64830	0.994;0.967;0.98;0.967	P;P;P;P	0.59288	0.855;0.556;0.653;0.556	D	0.87160	0.2214	10	0.42905	T	0.14	-2.3679	9.9564	0.41668	0.1:0.0:0.9:0.0	.	637;611;641;611	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	M	675;642;637;611;641	ENSP00000290101:T675M;ENSP00000363893:T642M;ENSP00000441661:T637M;ENSP00000363897:T611M	ENSP00000290101:T675M	T	-	2	0	RAP1GAP	21797527	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	4.566000	0.60843	2.196000	0.70406	0.555000	0.69702	ACG		0.607	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019759.2	NM_002885		8	18	0	0	0	1	0	8	18				
MED25	81857	broad.mit.edu	37	19	50331794	50331794	+	Missense_Mutation	SNP	C	C	T	rs137859678		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr19:50331794C>T	ENST00000312865.6	+	4	447	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	132	Interaction with the Mediator complex.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		CAAGAAGATGCGCGAGCAGAT	0.622																																					GBM(51;894 1657 37868)	ENST00000312865.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17						c.(394-396)Cgc>Tgc		mediator complex subunit 25		C	CYS/ARG	0,4406		0,0,2203	74.0	68.0	70.0		394	2.3	1.0	19	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	missense	MED25	NM_030973.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	132/748	50331794	1,13005	2203	4300	6503	SO:0001583	missense	81857				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm		g.chr19:50331794C>T	AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.394C>T	19.37:g.50331794C>T	ENSP00000326767:p.Arg132Cys					MED25_ENST00000538643.1_Intron	p.R132C	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)	4	447	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	132			Interaction with the Mediator complex.		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	c.394C>T	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654900	0.67472	0.0	1.16E-4	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000542221;ENST00000544580	T	0.21031	2.03	4.7	2.32	0.28847	.	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.38564	-0.9655	10	0.87932	D	0	.	10.5162	0.44892	0.537:0.4629:0.0:0.0	.	132	Q71SY5	MED25_HUMAN	C	132	ENSP00000326767:R132C	ENSP00000326767:R132C	R	+	1	0	MED25	55023606	1.000000	0.71417	0.994000	0.49952	0.835000	0.47333	1.767000	0.38501	1.270000	0.44297	0.655000	0.94253	CGC		0.622	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1	NM_030973		3	62	0	0	0	1	0	3	62				
AQP12A	375318	broad.mit.edu	37	2	241631584	241631584	+	Missense_Mutation	SNP	G	G	T	rs199880904		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:241631584G>T	ENST00000337801.4	+	2	286	c.217G>T	c.(217-219)Gtc>Ttc	p.V73F	AQP12A_ENST00000429564.1_Missense_Mutation_p.V85F|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	73						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGCGCACGGGGTCACCTTGGA	0.667																																						ENST00000429564.1																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14						c.(253-255)Gtc>Ttc		aquaporin 12A							30.0	45.0	40.0					2																	241631584		2151	4265	6416	SO:0001583	missense	375318					integral to membrane	transporter activity	g.chr2:241631584G>T	AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.217G>T	2.37:g.241631584G>T	ENSP00000337144:p.Val73Phe					AQP12A_ENST00000337801.4_Missense_Mutation_p.V73F	p.V85F			Q8IXF9	AQ12A_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	2	316	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	73						Missense_Mutation	SNP	ENST00000337801.4	37	c.253G>T		.	.	.	.	.	.	.	.	.	.	.	1.073	-0.669235	0.03403	.	.	ENSG00000184945	ENST00000337801;ENST00000429564;ENST00000420599	T;T	0.11277	2.79;2.79	2.58	2.58	0.30949	Aquaporin-like (2);	0.350897	0.29198	N	0.012848	T	0.03434	0.0099	N	0.02916	-0.46	0.09310	N	0.999998	B	0.11235	0.004	B	0.12837	0.008	T	0.45600	-0.9250	10	0.09843	T	0.71	.	6.7793	0.23636	0.0:0.0:0.7211:0.2789	.	73	Q8IXF9	AQ12A_HUMAN	F	73;85;58	ENSP00000337144:V73F;ENSP00000405899:V85F	ENSP00000337144:V73F	V	+	1	0	AQP12A	241280257	0.003000	0.15002	0.643000	0.29450	0.067000	0.16453	1.019000	0.30014	1.474000	0.48178	0.186000	0.17326	GTC		0.667	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998		3	35	1	0	0.00024832	1	0.000282969	3	35				
HFM1	164045	broad.mit.edu	37	1	91846486	91846486	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr1:91846486A>C	ENST00000370425.3	-	7	954	c.856T>G	c.(856-858)Tcc>Gcc	p.S286A	HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	286					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAGGCCTTGGACTGTATATAG	0.279																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(856-858)Tcc>Gcc		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							53.0	63.0	60.0					1																	91846486		2195	4287	6482	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91846486A>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.856T>G	1.37:g.91846486A>C	ENSP00000359454:p.Ser286Ala					HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_5'UTR	p.S286A	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	7	954	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	286					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.856T>G	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555657	0.86231	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819	T	0.12361	2.69	5.81	5.81	0.92471	DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.47093	U	0.000246	T	0.25082	0.0609	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.69307	0.963;0.963	T	0.01242	-1.1408	10	0.87932	D	0	.	16.1637	0.81739	1.0:0.0:0.0:0.0	.	286;286	B7ZM16;A2PYH4	.;HFM1_HUMAN	A	286;319;145	ENSP00000359454:S286A	ENSP00000359454:S286A	S	-	1	0	HFM1	91619074	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.820000	0.75267	2.216000	0.71823	0.533000	0.62120	TCC		0.279	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		9	45	0	0	0	1	0	9	45				
SLCO3A1	28232	broad.mit.edu	37	15	92459355	92459355	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr15:92459355C>T	ENST00000318445.6	+	2	527	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R105W	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	105					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	ACGCGGGCACCGGCCGCGCCT	0.677																																						ENST00000318445.6																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25						c.(313-315)Cgg>Tgg		solute carrier organic anion transporter family, member 3A1							25.0	20.0	22.0					15																	92459355		2175	4224	6399	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92459355C>T	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.313C>T	15.37:g.92459355C>T	ENSP00000320634:p.Arg105Trp					SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R105W	p.R105W	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		2	527	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		105					A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.313C>T	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964090	0.74131	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000553304	T;T;T	0.55234	0.53;0.53;0.53	5.22	3.21	0.36854	Major facilitator superfamily domain, general substrate transporter (1);	0.284662	0.36703	N	0.002443	T	0.77538	0.4145	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.84171	0.0434	10	0.87932	D	0	.	14.1504	0.65381	0.4052:0.5948:0.0:0.0	.	47;105;105	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	W	105;105;47	ENSP00000320634:R105W;ENSP00000387846:R105W;ENSP00000450559:R47W	ENSP00000320634:R105W	R	+	1	2	SLCO3A1	90260359	0.976000	0.34144	1.000000	0.80357	0.923000	0.55619	0.141000	0.16076	1.336000	0.45506	0.655000	0.94253	CGG		0.677	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		8	23	0	0	0	1	0	8	23				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			0							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	61	0	0	0	1	0	4	61				
SHKBP1	92799	broad.mit.edu	37	19	41096646	41096646	+	Silent	SNP	G	G	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr19:41096646G>T	ENST00000291842.5	+	17	1828	c.1779G>T	c.(1777-1779)ctG>ctT	p.L593L	LTBP4_ENST00000204005.9_5'Flank|SHKBP1_ENST00000600733.1_Silent_p.L568L|LTBP4_ENST00000545697.1_5'Flank	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	593					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGGTGGCCTGACGGAGCAAG	0.662																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(1777-1779)ctG>ctT		SH3KBP1 binding protein 1							57.0	66.0	63.0					19																	41096646		2203	4300	6503	SO:0001819	synonymous_variant	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41096646G>T	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1779G>T	19.37:g.41096646G>T						SHKBP1_ENST00000600733.1_Silent_p.L568L	p.L593L	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		17	1828	+			593					Q8N2I6|Q8WY93|Q96IB8	Silent	SNP	ENST00000291842.5	37	c.1779G>T	CCDS12560.1																																																																																				0.662	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		4	42	1	0	0.000602214	1	0.000655745	4	42				
FOLR4	390243	broad.mit.edu	37	11	94040775	94040775	+	Missense_Mutation	SNP	C	C	T	rs373997875		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr11:94040775C>T	ENST00000440961.2	+	4	693	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	224					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						GGCCGTGGCCCGCCTCTTCGC	0.602																																						ENST00000440961.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(649-651)Cgc>Tgc		folate receptor 4, delta (putative)		C	CYS/ARG	0,4148		0,0,2074	164.0	176.0	172.0		670	4.2	0.9	11		172	1,8395		0,1,4197	no	missense	FOLR4	NM_001199206.1	180	0,1,6271	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	224/251	94040775	1,12543	2074	4198	6272	SO:0001583	missense	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94040775C>T			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.649C>T	11.37:g.94040775C>T	ENSP00000416935:p.Arg217Cys						p.R217C	NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN			4	693	+			224						Missense_Mutation	SNP	ENST00000440961.2	37	c.649C>T		.	.	.	.	.	.	.	.	.	.	C	18.24	3.579949	0.65992	0.0	1.19E-4	ENSG00000183560	ENST00000440961	T	0.75260	-0.92	4.23	4.23	0.50019	.	0.728821	0.13412	N	0.389798	T	0.78729	0.4329	L	0.39898	1.24	0.26241	N	0.978865	D	0.89917	1.0	D	0.66847	0.947	T	0.67852	-0.5563	10	0.87932	D	0	-30.5745	9.6624	0.39962	0.2079:0.7921:0.0:0.0	.	217	A6ND01-2	.	C	217	ENSP00000416935:R217C	ENSP00000416935:R217C	R	+	1	0	FOLR4	93680423	0.019000	0.18553	0.900000	0.35374	0.989000	0.77384	0.491000	0.22419	2.366000	0.80165	0.491000	0.48974	CGC		0.602	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		5	102	0	0	0	1	0	5	102				
OR10G8	219869	broad.mit.edu	37	11	123901102	123901102	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr11:123901102A>G	ENST00000431524.1	+	1	806	c.773A>G	c.(772-774)tAc>tGc	p.Y258C		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTTTTCATTTACCTGAGGCCA	0.557																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(772-774)tAc>tGc		olfactory receptor, family 10, subfamily G, member 8							127.0	115.0	119.0					11																	123901102		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901102A>G	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.773A>G	11.37:g.123901102A>G	ENSP00000389072:p.Tyr258Cys						p.Y258C	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	806	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	258					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.773A>G	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	A	8.175	0.792503	0.16258	.	.	ENSG00000234560	ENST00000431524	T	0.00295	8.25	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	N	0.001518	T	0.00784	0.0026	M	0.94101	3.495	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.24512	-1.0158	10	0.87932	D	0	.	7.1408	0.25554	0.8841:0.0:0.1159:0.0	.	258	Q8NGN5	O10G8_HUMAN	C	258	ENSP00000389072:Y258C	ENSP00000389072:Y258C	Y	+	2	0	OR10G8	123406312	0.823000	0.29233	0.923000	0.36655	0.159000	0.22180	1.881000	0.39638	1.319000	0.45190	0.455000	0.32223	TAC		0.557	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		19	93	0	0	0	1	0	19	93				
PCDH17	27253	broad.mit.edu	37	13	58299274	58299274	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr13:58299274G>A	ENST00000377918.3	+	4	3352	c.3326G>A	c.(3325-3327)cGg>cAg	p.R1109Q		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1109					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGAGCCAGCCGGGATTCCAGT	0.517																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3325-3327)cGg>cAg		protocadherin 17							157.0	159.0	158.0					13																	58299274		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58299274G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3326G>A	13.37:g.58299274G>A	ENSP00000367151:p.Arg1109Gln						p.R1109Q	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	4	3352	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	1109					A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.3326G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.019445	0.35606	.	.	ENSG00000118946	ENST00000377918	T	0.50277	0.75	6.07	6.07	0.98685	.	0.061511	0.64402	D	0.000002	T	0.29288	0.0729	N	0.04508	-0.205	0.46458	D	0.999056	B	0.17667	0.023	B	0.06405	0.002	T	0.16394	-1.0404	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1109	O14917	PCD17_HUMAN	Q	1109	ENSP00000367151:R1109Q	.	R	+	2	0	PCDH17	57197275	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.204000	0.77872	2.885000	0.99019	0.655000	0.94253	CGG		0.517	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		21	80	0	0	0	1	0	21	80				
TENM1	10178	broad.mit.edu	37	X	123514728	123514728	+	Silent	SNP	C	C	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chrX:123514728C>T	ENST00000371130.3	-	31	7899	c.7836G>A	c.(7834-7836)ttG>ttA	p.L2612L	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Silent_p.L2619L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2612					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCCTCCCATTCAACACAGAAG	0.522																																						ENST00000422452.2																			0											c.(7855-7857)ttG>ttA		teneurin transmembrane protein 1							103.0	80.0	88.0					X																	123514728		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123514728C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7836G>A	X.37:g.123514728C>T						TENM1_ENST00000371130.3_Silent_p.L2612L|STAG2_ENST00000469481.1_Intron	p.L2619L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					32	7920	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.7857G>A	CCDS14609.1																																																																																				0.522	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		15	20	0	0	0	1	0	15	20				
COL28A1	340267	broad.mit.edu	37	7	7514264	7514264	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr7:7514264C>T	ENST00000399429.3	-	15	1410	c.1270G>A	c.(1270-1272)Gga>Aga	p.G424R		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	424					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTTGTAATCCCTGTGGGCCA	0.393																																						ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(1270-1272)Gga>Aga		collagen, type XXVIII, alpha 1							136.0	136.0	136.0					7																	7514264		1846	4106	5952	SO:0001583	missense	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7514264C>T	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1270G>A	7.37:g.7514264C>T	ENSP00000382356:p.Gly424Arg						p.G424R	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	15	1410	-		Ovarian(82;0.0789)	424					A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	ENST00000399429.3	37	c.1270G>A	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071447	0.76301	.	.	ENSG00000215018	ENST00000399429;ENST00000399419	D	0.94758	-3.51	4.7	4.7	0.59300	.	0.000000	0.53938	U	0.000053	D	0.98160	0.9392	H	0.97564	4.03	0.38796	D	0.955096	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.976	D	0.99790	1.1031	10	0.87932	D	0	-6.096	13.346	0.60573	0.0:1.0:0.0:0.0	.	424;424	Q2UY09-2;Q2UY09	.;COSA1_HUMAN	R	424	ENSP00000382356:G424R	ENSP00000382347:G424R	G	-	1	0	COL28A1	7480789	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.514000	0.45503	2.609000	0.88269	0.650000	0.86243	GGA		0.393	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		5	44	0	0	0	1	0	5	44				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	43	0	0	0	1	0	3	43				
ZNF142	7701	broad.mit.edu	37	2	219508714	219508714	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:219508714G>C	ENST00000449707.1	-	8	2946	c.2525C>G	c.(2524-2526)cCt>cGt	p.P842R	ZNF142_ENST00000411696.2_Missense_Mutation_p.P842R	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	842					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGTGATAAAAGGGCAGTGTGG	0.627																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(2524-2526)cCt>cGt		zinc finger protein 142							116.0	124.0	121.0					2																	219508714		2037	4164	6201	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508714G>C	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.2525C>G	2.37:g.219508714G>C	ENSP00000408643:p.Pro842Arg					ZNF142_ENST00000449707.1_Missense_Mutation_p.P842R	p.P842R			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	3304	-		Renal(207;0.0474)	842					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.2525C>G	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071033	0.76301	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.27890	1.64;1.64	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);	0.115539	0.64402	D	0.000013	T	0.48607	0.1509	L	0.41492	1.28	0.40975	D	0.984731	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.35699	-0.9778	10	0.40728	T	0.16	-17.5347	18.9765	0.92738	0.0:0.0:1.0:0.0	.	842;679	P52746;A8MWU9	ZN142_HUMAN;.	R	842	ENSP00000408643:P842R;ENSP00000398798:P842R	ENSP00000398798:P842R	P	-	2	0	ZNF142	219216958	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.444000	0.73452	2.720000	0.93068	0.655000	0.94253	CCT		0.627	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		19	58	0	0	0	1	0	19	58				
MS4A14	84689	broad.mit.edu	37	11	60183438	60183438	+	Missense_Mutation	SNP	C	C	A	rs150784858		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr11:60183438C>A	ENST00000300187.6	+	5	1274	c.997C>A	c.(997-999)Caa>Aaa	p.Q333K	MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.Q366K|MS4A14_ENST00000395005.2_Missense_Mutation_p.Q316K|MS4A14_ENST00000531787.1_Missense_Mutation_p.Q221K	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	333						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCTGTCAGAACAAACCATGCC	0.453																																						ENST00000300187.6																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(997-999)Caa>Aaa		membrane-spanning 4-domains, subfamily A, member 14							120.0	105.0	110.0					11																	60183438		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183438C>A	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.997C>A	11.37:g.60183438C>A	ENSP00000300187:p.Gln333Lys					MS4A14_ENST00000531783.1_Missense_Mutation_p.Q366K|MS4A14_ENST00000531787.1_Missense_Mutation_p.Q221K|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.Q316K	p.Q333K	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN			5	1274	+			333					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.997C>A	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013241	0.35511	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.39787	1.1;2.21;1.06;2.56	3.59	1.61	0.23674	.	4.832760	0.00481	N	0.000140	T	0.36413	0.0966	L	0.32530	0.975	0.09310	N	1	B;B	0.26602	0.154;0.096	B;B	0.24394	0.053;0.024	T	0.35871	-0.9771	10	0.87932	D	0	0.5753	8.2921	0.31963	0.4306:0.5694:0.0:0.0	.	316;333	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	K	221;333;316;366	ENSP00000437222:Q221K;ENSP00000300187:Q333K;ENSP00000378453:Q316K;ENSP00000433761:Q366K	ENSP00000300187:Q333K	Q	+	1	0	MS4A14	59940014	0.000000	0.05858	0.007000	0.13788	0.001000	0.01503	-0.913000	0.04042	0.452000	0.26830	-0.188000	0.12872	CAA		0.453	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			7	32	1	0	0.00307968	1	0.00321073	7	32				
FSTL5	56884	broad.mit.edu	37	4	162307016	162307016	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr4:162307016G>T	ENST00000306100.5	-	16	2863	c.2427C>A	c.(2425-2427)taC>taA	p.Y809*	FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Y799*|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Y808*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Y808*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	809						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTGTCATCAGGTATTGACCAA	0.418																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(2425-2427)taC>taA		follistatin-like 5							202.0	183.0	189.0					4																	162307016		2203	4300	6503	SO:0001587	stop_gained	56884					extracellular region	calcium ion binding	g.chr4:162307016G>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2427C>A	4.37:g.162307016G>T	ENSP00000305334:p.Tyr809*					RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Y808*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Y808*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Y799*	p.Y809*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	16	2863	-	all_hematologic(180;0.24)		809					E9PCP6|Q9NSW7|Q9ULF7	Nonsense_Mutation	SNP	ENST00000306100.5	37	c.2427C>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	41	8.710224	0.98925	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	.	.	.	5.73	2.99	0.34606	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.118	0.30955	0.3377:0.0:0.6623:0.0	.	.	.	.	X	809;808;799;808	.	ENSP00000305334:Y809X	Y	-	3	2	FSTL5	162526466	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.228000	0.42981	0.722000	0.32252	0.655000	0.94253	TAC		0.418	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		33	105	1	0	2.61193e-14	1	3.28166e-14	33	105				
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	lincRNA	SNP	C	C	T	rs7615357	byFrequency	TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391									long intergenic non-protein coding RNA 969																		GGGGCAAACTCGCTGTTGGAC	0.592																																						ENST00000445430.1																			0																																																			0							g.chr3:195400795C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400795C>T														0	1391	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.592	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	9	0	0	0	1	0	5	9				
FGA	2243	broad.mit.edu	37	4	155507041	155507041	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr4:155507041G>T	ENST00000302053.3	-	5	1618	c.1540C>A	c.(1540-1542)Cct>Act	p.P514T	FGA_ENST00000403106.3_Missense_Mutation_p.P514T	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	514					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GCTTCATCAGGGTGCCTATGG	0.498																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1540-1542)Cct>Act		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						100.0	98.0	99.0					4																	155507041		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507041G>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1540C>A	4.37:g.155507041G>T	ENSP00000306361:p.Pro514Thr					FGA_ENST00000403106.3_Missense_Mutation_p.P514T	p.P514T	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1618	-	all_hematologic(180;0.215)	Renal(120;0.0458)	514					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1540C>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.471107	0.26423	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.58506	0.33;2.49	5.65	2.94	0.34122	.	.	.	.	.	T	0.47581	0.1453	L	0.53249	1.67	0.09310	N	1	B;P	0.34546	0.379;0.456	B;B	0.27170	0.077;0.068	T	0.33497	-0.9866	9	0.49607	T	0.09	.	8.2506	0.31715	0.0716:0.0:0.6318:0.2966	.	514;514	P02671-2;P02671	.;FIBA_HUMAN	T	514	ENSP00000306361:P514T;ENSP00000385981:P514T	ENSP00000306361:P514T	P	-	1	0	FGA	155726491	0.390000	0.25213	0.001000	0.08648	0.023000	0.10783	1.588000	0.36633	0.449000	0.26747	-0.182000	0.12963	CCT		0.498	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		21	69	1	0	1.00905e-13	1	1.23608e-13	21	69				
SCEL	8796	broad.mit.edu	37	13	78167665	78167665	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr13:78167665A>G	ENST00000349847.3	+	12	793	c.709A>G	c.(709-711)Aac>Gac	p.N237D	SCEL_ENST00000377246.3_Intron|SCEL_ENST00000535157.1_Missense_Mutation_p.N215D	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	237					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GGATCTTGATAACATCGTCAA	0.373																																						ENST00000535157.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40						c.(643-645)Aac>Gac		sciellin							131.0	120.0	124.0					13																	78167665		2203	4300	6503	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78167665A>G	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.709A>G	13.37:g.78167665A>G	ENSP00000302579:p.Asn237Asp					SCEL_ENST00000349847.3_Missense_Mutation_p.N237D|SCEL_ENST00000377246.3_Intron	p.N215D	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	11	813	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	237					B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.643A>G	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	A	5.409	0.260667	0.10239	.	.	ENSG00000136155	ENST00000535157;ENST00000349847	T;T	0.22539	1.95;1.95	5.36	-1.49	0.08718	.	0.559652	0.17418	N	0.174924	T	0.09905	0.0243	L	0.28115	0.83	0.09310	N	1	B;B	0.15930	0.012;0.015	B;B	0.14023	0.004;0.01	T	0.34750	-0.9816	10	0.12766	T	0.61	-2.2163	4.7271	0.12946	0.4516:0.295:0.2533:0.0	.	215;237	F5H651;O95171	.;SCEL_HUMAN	D	215;237	ENSP00000437895:N215D;ENSP00000302579:N237D	ENSP00000302579:N237D	N	+	1	0	SCEL	77065666	0.007000	0.16637	0.000000	0.03702	0.729000	0.41735	0.135000	0.15952	-0.141000	0.11374	0.533000	0.62120	AAC		0.373	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		5	34	0	0	0	1	0	5	34				
PDPR	55066	broad.mit.edu	37	16	70176575	70176575	+	Missense_Mutation	SNP	A	A	G	rs2549566	byFrequency	TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr16:70176575A>G	ENST00000288050.4	+	13	2548	c.1591A>G	c.(1591-1593)Aag>Gag	p.K531E	PDPR_ENST00000568530.1_Missense_Mutation_p.K531E|PDPR_ENST00000398122.3_Missense_Mutation_p.K431E|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	531					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTCTTTCACAAAGTTTGAGAT	0.353																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(1591-1593)Aag>Gag		pyruvate dehydrogenase phosphatase regulatory subunit							145.0	154.0	151.0					16																	70176575		1963	4167	6130	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70176575A>G		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1591A>G	16.37:g.70176575A>G	ENSP00000288050:p.Lys531Glu					PDPR_ENST00000568530.1_Missense_Mutation_p.K531E|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Missense_Mutation_p.K431E	p.K531E	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	13	2548	+			531					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.1591A>G	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.831687	0.91036	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055	T;T	0.74842	-0.88;-0.88	4.99	4.99	0.66335	Glycine cleavage T-protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87935	0.6303	M	0.89534	3.04	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.74023	0.925;0.982	D	0.90503	0.4475	10	0.87932	D	0	.	14.1577	0.65428	1.0:0.0:0.0:0.0	rs2549566	259;531	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	E	531;431;259	ENSP00000288050:K531E;ENSP00000381190:K431E	ENSP00000205055:K259E	K	+	1	0	PDPR	68734076	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.020000	0.93667	2.005000	0.58758	0.454000	0.30748	AAG		0.353	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		4	73	0	0	0	1	0	4	73				
AC027612.3	0	broad.mit.edu	37	2	91899626	91899627	+	RNA	DEL	AA	AA	-	rs566726868	byFrequency	TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:91899626_91899627delAA	ENST00000436174.1	-	0	168																											CCAGAGGCTCAAAAAAAAAAAA	0.287																																						ENST00000436174.1																			0																																																			0							g.chr2:91899626_91899627delAA																													2.37:g.91899636_91899637delAA														0	168	-									RNA	DEL	ENST00000436174.1	37																																																																																						0.287	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			4	9						4	9	---	---	---	---
LOC101928553	101928553	broad.mit.edu	37	2	149629672	149629673	+	RNA	INS	-	-	C	rs370090371|rs535247185		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:149629672_149629673insC	ENST00000601658.1	-	0	676																											CTCTGGCCCTGCCCCCCCCCAA	0.441																																						ENST00000601658.1																			0																																																			0							g.chr2:149629672_149629673insC																													2.37:g.149629681_149629681dupC														0	676	-									RNA	INS	ENST00000601658.1	37																																																																																						0.441	AC105402.4-002	KNOWN	basic	antisense	antisense	OTTHUMT00000462024.1			3	6						3	6	---	---	---	---
RP11-13J8.1	0	broad.mit.edu	37	2	201967217	201967218	+	lincRNA	DEL	AG	AG	-	rs371047928|rs368317583		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr2:201967217_201967218delAG	ENST00000448256.1	+	0	627_628																											aaaaaaaaaaagaaTTTGTTCT	0.46																																						ENST00000448256.1																			0																																																			0							g.chr2:201967217_201967218delAG																													2.37:g.201967217_201967218delAG														0	627_628	+									RNA	DEL	ENST00000448256.1	37																																																																																						0.460	RP11-13J8.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000347397.1			3	6						3	6	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400814	195400815	+	lincRNA	INS	-	-	TT	rs371598334		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr3:195400814_195400815insTT	ENST00000445430.1	+	0	1410_1411									long intergenic non-protein coding RNA 969																		ACCTGGTTGTCTGGTCAGGCAT	0.574																																						ENST00000445430.1																			0																																																			0							g.chr3:195400814_195400815insTT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400814_195400815insTT														0	1410_1411	+									RNA	INS	ENST00000445430.1	37																																																																																						0.574	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	9						5	9	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	lincRNA	INS	-	-	T	rs55992531|rs397933710		TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454									long intergenic non-protein coding RNA 969																		AGTCttttttctttttttttga	0.525																																						ENST00000445430.1																			0																																																			0							g.chr3:195400918_195400919insT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400927_195400927dupT														0	1454	+									RNA	INS	ENST00000445430.1	37																																																																																						0.525	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	3						3	3	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72664015	72664016	+	RNA	INS	-	-	G	rs202030378|rs372212945	byFrequency	TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr7:72664015_72664016insG	ENST00000425256.1	-	0	884_885									GTF2I repeat domain containing 2 pseudogene 1																		ATACCACCCCCGGGGCATGCCA	0.505													GGGGG|GGGG|GGGGG|deletion	3786	0.75599	0.7247	0.8242	5008	,	,		6539	0.7212		0.8101	False		,,,				2504	0.7301					ENST00000425256.1																			0																																																			0							g.chr7:72664015_72664016insG	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72664019_72664019dupG								NR_002164.1						0	884_885	-									RNA	INS	ENST00000425256.1	37																																																																																						0.505	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		6	9						6	9	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		3	4						3	4	---	---	---	---
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs371516340|rs565664344|rs71369530	byFrequency	TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767																																						ENST00000375123.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(505-510)del		forkhead box E1 (thyroid transcription factor 2)																																				SO:0001651	inframe_deletion	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:100616701_100616706delGCCGCC	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.505_510delGCCGCC	9.37:g.100616707_100616712delGCCGCC	ENSP00000364265:p.Ala177_Ala178del						p.AA177del	NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN			1	1166_1171	+		Acute lymphoblastic leukemia(62;0.158)	177			Ala-rich.|Poly-Ala.		O75765|Q5T109|Q99526	In_Frame_Del	DEL	ENST00000375123.3	37	c.505_510delGCCGCC	CCDS35078.1																																																																																				0.767	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1			4	5						4	5	---	---	---	---
KRT80	144501	broad.mit.edu	37	12	52565485	52565485	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr12:52565485delG	ENST00000394815.2	-	8	1288	c.1191delC	c.(1189-1191)cccfs	p.P397fs	KRT80_ENST00000313234.5_Frame_Shift_Del_p.P397fs	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	397	Tail.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CAGTGGCTGAGGGCGAGTCCA	0.637																																					GBM(178;2309 2916 15678 35873)	ENST00000313234.5																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(1189-1191)ccfs		keratin 80							27.0	21.0	23.0					12																	52565485		2186	4287	6473	SO:0001589	frameshift_variant	144501					keratin filament	structural molecule activity	g.chr12:52565485delG	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.1191delC	12.37:g.52565485delG	ENSP00000378292:p.Pro397fs					KRT80_ENST00000394815.2_Frame_Shift_Del_p.P397fs	p.P397fs	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	8	1288	-			397			Tail.		Q6P1A5|Q7Z3Q0	Frame_Shift_Del	DEL	ENST00000394815.2	37	c.1191delC	CCDS8821.2																																																																																				0.637	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		2	4						2	4	---	---	---	---
MSLNL	401827	broad.mit.edu	37	16	825148	825149	+	Frame_Shift_Ins	INS	-	-	G			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr16:825148_825149insG	ENST00000442466.1	-	5	499_500	c.500_501insC	c.(499-501)gctfs	p.A167fs	MSLNL_ENST00000293892.3_Frame_Shift_Ins_p.A493fs			Q96KJ4	MSLNL_HUMAN	mesothelin-like	167					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CACCCCACCCAGCGCCCACCAG	0.738																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(1477-1479)gggfs		mesothelin-like																																				SO:0001589	frameshift_variant	401827				cell adhesion	integral to membrane		g.chr16:825148_825149insG			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.501dupC	16.37:g.825149_825149dupG	ENSP00000415767:p.Ala167fs					MSLNL_ENST00000442466.1_Frame_Shift_Ins_p.G167fs	p.G493fs			Q96KJ4	MSLNL_HUMAN			6	1477_1478	-			167						Frame_Shift_Ins	INS	ENST00000442466.1	37	c.1478_1479insC																																																																																					0.738	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		2	4						2	4	---	---	---	---
NCOR1P1	149934	broad.mit.edu	37	20	26084384	26084384	+	RNA	DEL	T	T	-	rs373531723	byFrequency	TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr20:26084384delT	ENST00000478176.1	-	0	150					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		AAAAAGTCAGTTTTAAACCAC	0.328													?|TTTT|TTT|unsure	52	0.0103834	0.003	0.0202	5008	,	,		17211	0.0		0.0308	False		,,,				2504	0.0031					ENST00000478176.1																			0																																																			0							g.chr20:26084384delT	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084384delT								NR_003678.1						0	150	-								A2RUA0	RNA	DEL	ENST00000478176.1	37																																																																																						0.328	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			15	27						15	27	---	---	---	---
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-YL-A9WJ-01A-11D-A377-08	TCGA-YL-A9WJ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5b84007-f6ea-43a8-92a8-cf0172b85790	66199aec-eed9-46c6-bbb4-e5048ee23e00	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398																																						ENST00000444162.1																			0																																																			0							g.chr22:16419352delT																													22.37:g.16419352delT														0	279	+									RNA	DEL	ENST00000444162.1	37																																																																																						0.398	LA16c-23H5.4-004	KNOWN	basic	antisense	antisense	OTTHUMT00000074929.2			5	10						5	10	---	---	---	---
