#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
TVP23C	201158	broad.mit.edu	37	17	15457141	15457141	+	Missense_Mutation	SNP	T	T	A			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr17:15457141T>A	ENST00000225576.3	-	3	193	c.98A>T	c.(97-99)cAt>cTt	p.H33L	TVP23C_ENST00000428082.2_Missense_Mutation_p.H33L|TVP23C_ENST00000438826.3_Missense_Mutation_p.H33L|TVP23C_ENST00000584811.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.H33L|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000518321.1_Missense_Mutation_p.H33L	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	33						integral component of membrane (GO:0016021)											TGCTACTGGATGTCTGAAAAC	0.378																																						ENST00000522212.2																			0											c.(97-99)cAt>cTt									187.0	182.0	184.0					17																	15457141		2203	4297	6500	SO:0001583	missense	100533496							g.chr17:15457141T>A	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.98A>T	17.37:g.15457141T>A	ENSP00000225576:p.His33Leu					TVP23C_ENST00000225576.3_Missense_Mutation_p.H33L|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Missense_Mutation_p.H33L|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000518321.1_Missense_Mutation_p.H33L|TVP23C_ENST00000428082.2_Missense_Mutation_p.H33L	p.H33L	NM_001204478.1	NP_001191407.1					3	210	-								Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	c.98A>T	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	24.2	4.502748	0.85176	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.71384	0.3333	M	0.89968	3.075	0.80722	D	1	P;P;D	0.56746	0.939;0.939;0.977	P;P;D	0.65233	0.856;0.783;0.933	T	0.78497	-0.2181	10	0.87932	D	0	.	13.018	0.58768	0.0:0.0:0.0:1.0	.	33;33;33	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	L	33	ENSP00000429865:H33L;ENSP00000225576:H33L;ENSP00000406387:H33L;ENSP00000413355:H33L	ENSP00000225576:H33L	H	-	2	0	RP11-726O12.1;FAM18B2	15397866	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	7.924000	0.87555	1.788000	0.52465	0.443000	0.29094	CAT		0.378	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		32	75	0	0	0	1	0	32	75				
RBP4	5950	broad.mit.edu	37	10	95360770	95360770	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr10:95360770C>T	ENST00000371467.1	-	2	335	c.16G>A	c.(16-18)Gcg>Acg	p.A6T	RBP4_ENST00000371469.2_Intron|FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.A6T			P02753	RET4_HUMAN	retinol binding protein 4, plasma	6					cardiac muscle tissue development (GO:0048738)|detection of light stimulus involved in visual perception (GO:0050908)|embryonic organ morphogenesis (GO:0048562)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic skeletal system development (GO:0048706)|eye development (GO:0001654)|female genitalia morphogenesis (GO:0048807)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|lung development (GO:0030324)|maintenance of gastrointestinal epithelium (GO:0030277)|male gonad development (GO:0008584)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|phototransduction, visible light (GO:0007603)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of insulin secretion (GO:0032024)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to retinoic acid (GO:0032526)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|retinol transport (GO:0034633)|spermatogenesis (GO:0007283)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	retinal binding (GO:0016918)|retinol binding (GO:0019841)|retinol transporter activity (GO:0034632)			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	AGCAAGAGCGCCCACACCCAC	0.697																																					Pancreas(5;160 256 1117 46697 50185)	ENST00000371467.1																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(16-18)Gcg>Acg		retinol binding protein 4, plasma	Vitamin A(DB00162)						25.0	29.0	28.0					10																	95360770		2164	4236	6400	SO:0001583	missense	5950				cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding	g.chr10:95360770C>T	BC020633	CCDS31249.1	10q23.33	2014-01-22	2001-11-28		ENSG00000138207	ENSG00000138207		"""Lipocalins"""	9922	protein-coding gene	gene with protein product		180250	"""retinol-binding protein 4, plasma"""				Standard	XM_005270023		Approved		uc001kit.3	P02753	OTTHUMG00000018773	ENST00000371467.1:c.16G>A	10.37:g.95360770C>T	ENSP00000360522:p.Ala6Thr					RBP4_ENST00000371464.3_Missense_Mutation_p.A6T|RBP4_ENST00000371469.2_Intron|FFAR4_ENST00000604414.1_Intron	p.A6T			P02753	RET4_HUMAN			2	335	-		Colorectal(252;0.122)	6					D3DR38|O43478|O43479|Q5VY24|Q8WWA3|Q9P178	Missense_Mutation	SNP	ENST00000371467.1	37	c.16G>A	CCDS31249.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892425	0.52121	.	.	ENSG00000138207	ENST00000371464;ENST00000371467	T;T	0.72725	-0.68;-0.68	4.79	4.79	0.61399	.	0.647217	0.16610	N	0.206946	T	0.60818	0.2298	L	0.36672	1.1	0.27791	N	0.942836	B	0.20550	0.046	B	0.15870	0.014	T	0.50508	-0.8820	10	0.24483	T	0.36	-12.1705	14.6363	0.68692	0.0:0.8429:0.1571:0.0	.	6	P02753	RET4_HUMAN	T	6	ENSP00000360519:A6T;ENSP00000360522:A6T	ENSP00000360519:A6T	A	-	1	0	RBP4	95350760	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	1.337000	0.33862	2.209000	0.71365	0.449000	0.29647	GCG		0.697	RBP4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049431.1	NM_006744		17	34	0	0	0	1	0	17	34				
FAR2P1	440905	broad.mit.edu	37	2	130798070	130798070	+	RNA	SNP	T	T	C			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr2:130798070T>C	ENST00000325390.3	-	0	2340					NR_026758.1																						GGCCTTGCTATAGGTCTAAGT	0.473																																						ENST00000325390.3																			0																																																			440905							g.chr2:130798070T>C																													2.37:g.130798070T>C								NR_026758.1						0	2340	-									RNA	SNP	ENST00000325390.3	37																																																																																						0.473	AC018865.8-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331630.3			4	8	0	0	0	1	0	4	8				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			414212							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		5	24	0	0	0	1	0	5	24				
TSC2	7249	broad.mit.edu	37	16	2131703	2131703	+	Missense_Mutation	SNP	C	C	T	rs137854353		TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr16:2131703C>T	ENST00000219476.3	+	31	4348	c.3718C>T	c.(3718-3720)Cgc>Tgc	p.R1240C	TSC2_ENST00000350773.4_Missense_Mutation_p.R1240C|TSC2_ENST00000401874.2_Missense_Mutation_p.R1196C|TSC2_ENST00000439673.2_Missense_Mutation_p.R1160C|TSC2_ENST00000382538.6_Missense_Mutation_p.R1148C|TSC2_ENST00000353929.4_Missense_Mutation_p.R1197C|TSC2_ENST00000568454.1_Missense_Mutation_p.R1207C	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1240			R -> W (in TSC2). {ECO:0000269|PubMed:8824881}.		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGCGGCTGAGCGCTTCAAGGA	0.627			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(3718-3720)Cgc>Tgc		tuberous sclerosis 2							75.0	62.0	67.0					16																	2131703		2198	4299	6497	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2131703C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3718C>T	16.37:g.2131703C>T	ENSP00000219476:p.Arg1240Cys					TSC2_ENST00000350773.4_Missense_Mutation_p.R1240C|TSC2_ENST00000439673.2_Missense_Mutation_p.R1160C|TSC2_ENST00000401874.2_Missense_Mutation_p.R1196C|TSC2_ENST00000568454.1_Missense_Mutation_p.R1207C|TSC2_ENST00000353929.4_Missense_Mutation_p.R1197C|TSC2_ENST00000382538.6_Missense_Mutation_p.R1148C	p.R1240C	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN			31	4348	+		Hepatocellular(780;0.0202)	1240		R -> W (in TSC2).			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.3718C>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142197	0.77775	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.90261	-2.56;-2.59;-2.64;-2.62;-2.54	4.7	4.7	0.59300	.	0.193367	0.44285	D	0.000476	D	0.93539	0.7938	L	0.57536	1.79	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.943;0.975;0.983;0.975;0.997;0.988	D	0.93512	0.6854	10	0.54805	T	0.06	-29.1426	12.7331	0.57208	0.1643:0.8357:0.0:0.0	.	1148;1160;1240;1196;1196;1240	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	C	1240;1197;1197;1160;1148;1240	ENSP00000219476:R1240C;ENSP00000248099:R1197C;ENSP00000399232:R1160C;ENSP00000371978:R1148C;ENSP00000344383:R1240C	ENSP00000219476:R1240C	R	+	1	0	TSC2	2071704	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.493000	0.60341	2.174000	0.68829	0.561000	0.74099	CGC		0.627	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		4	54	0	0	0	1	0	4	54				
MARS	4141	broad.mit.edu	37	12	57908512	57908512	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr12:57908512G>A	ENST00000262027.5	+	16	2111	c.1977G>A	c.(1975-1977)atG>atA	p.M659I	RN7SL312P_ENST00000582079.1_RNA|MARS_ENST00000315473.5_Missense_Mutation_p.M425I	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	659					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GAGCTGGGATGTTTGTGTCTA	0.507																																						ENST00000262027.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(1975-1977)atG>atA		methionyl-tRNA synthetase	L-Methionine(DB00134)						232.0	235.0	234.0					12																	57908512		2203	4300	6503	SO:0001583	missense	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57908512G>A	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1977G>A	12.37:g.57908512G>A	ENSP00000262027:p.Met659Ile					MARS_ENST00000315473.5_Missense_Mutation_p.M425I	p.M659I	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		16	2111	+			659					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	c.1977G>A	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434700	0.43224	.	.	ENSG00000166986	ENST00000262027;ENST00000315473;ENST00000552914	T;T;T	0.41400	1.0;1.0;1.0	5.02	5.02	0.67125	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.040522	0.85682	D	0.000000	T	0.43853	0.1266	M	0.72894	2.215	0.58432	D	0.999999	B;B	0.15719	0.005;0.014	B;B	0.17098	0.01;0.017	T	0.32025	-0.9922	10	0.38643	T	0.18	-25.2411	13.9091	0.63855	0.0:0.1538:0.8462:0.0	.	425;659	A6NC17;P56192	.;SYMC_HUMAN	I	659;425;15	ENSP00000262027:M659I;ENSP00000314653:M425I;ENSP00000449787:M15I	ENSP00000262027:M659I	M	+	3	0	MARS	56194779	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	7.037000	0.76531	2.767000	0.95098	0.591000	0.81541	ATG		0.507	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		8	243	0	0	0	1	0	8	243				
RBMX	27316	broad.mit.edu	37	X	135961213	135961213	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chrX:135961213G>T	ENST00000320676.7	-	3	333	c.179C>A	c.(178-180)gCa>gAa	p.A60E	SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000562646.1_Missense_Mutation_p.A60E|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000431446.3_Missense_Mutation_p.A60E	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	60	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTTAGCGTCTGCTGGGCTTTC	0.383																																						ENST00000562646.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33						c.(178-180)gCa>gAa		RNA binding motif protein, X-linked							155.0	133.0	140.0					X																	135961213		2203	4300	6503	SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135961213G>T		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.179C>A	X.37:g.135961213G>T	ENSP00000359645:p.Ala60Glu					RBMX_ENST00000565438.1_Intron|RBMX_ENST00000320676.7_Missense_Mutation_p.A60E|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000431446.3_Missense_Mutation_p.A60E	p.A60E			P38159	HNRPG_HUMAN			3	333	-	Acute lymphoblastic leukemia(192;0.000127)		60			RRM.		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.179C>A	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	4.649	0.120559	0.08881	.	.	ENSG00000147274	ENST00000431446;ENST00000320676;ENST00000449161	D;D	0.83506	-1.73;-1.73	4.57	3.71	0.42584	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.232870	0.33834	U	0.004510	T	0.64461	0.2600	N	0.02865	-0.47	0.80722	D	1	B;B;B	0.23185	0.081;0.005;0.001	B;B;B	0.31869	0.137;0.01;0.005	T	0.56492	-0.7970	10	0.32370	T	0.25	.	9.3856	0.38340	0.0:0.1534:0.684:0.1626	.	60;60;47	B4E3U4;P38159;Q8N8Y7	.;HNRPG_HUMAN;.	E	60;60;47	ENSP00000411989:A60E;ENSP00000359645:A60E	ENSP00000359645:A60E	A	-	2	0	RBMX	135788879	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.164000	0.64954	0.746000	0.32786	-0.282000	0.10007	GCA		0.383	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		4	103	1	0	0.150653	1	0.150653	4	103				
DIRC2	84925	broad.mit.edu	37	3	122545710	122545710	+	Silent	SNP	A	A	G	rs572207932		TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr3:122545710A>G	ENST00000261038.5	+	3	899	c.501A>G	c.(499-501)ccA>ccG	p.P167P		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	167					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		ATGCAGCACCATTTCTCTCTA	0.413													A|||	1	0.000199681	0.0	0.0	5008	,	,		17648	0.0		0.0	False		,,,				2504	0.001					ENST00000261038.5																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(499-501)ccA>ccG		disrupted in renal carcinoma 2							129.0	128.0	128.0					3																	122545710		2203	4300	6503	SO:0001819	synonymous_variant	84925				transport	integral to membrane		g.chr3:122545710A>G	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.501A>G	3.37:g.122545710A>G							p.P167P	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	3	899	+			167					A8K561|Q8NBX9	Silent	SNP	ENST00000261038.5	37	c.501A>G	CCDS3018.1																																																																																				0.413	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		10	68	0	0	0	1	0	10	68				
PCDHB12	56124	broad.mit.edu	37	5	140589813	140589813	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr5:140589813A>G	ENST00000239450.2	+	1	1523	c.1334A>G	c.(1333-1335)aAt>aGt	p.N445S	PCDHB12_ENST00000541609.1_Missense_Mutation_p.N108S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	445	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGACGTCAATGACAACGCC	0.597																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1333-1335)aAt>aGt									109.0	103.0	105.0					5																	140589813		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589813A>G	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1334A>G	5.37:g.140589813A>G	ENSP00000239450:p.Asn445Ser					PCDHB12_ENST00000541609.1_Missense_Mutation_p.N108S	p.N445S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1523	+			445			Cadherin 4.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1334A>G	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.626559	0.46840	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.70749	-0.51;-0.51	3.83	3.83	0.44106	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.88474	0.6446	H	0.97158	3.95	0.40741	D	0.982837	D	0.89917	1.0	D	0.91635	0.999	D	0.91964	0.5581	9	0.87932	D	0	.	12.6166	0.56580	1.0:0.0:0.0:0.0	.	445	Q9Y5F1	PCDBC_HUMAN	S	108;445;65	ENSP00000440199:N108S;ENSP00000239450:N445S	ENSP00000239450:N445S	N	+	2	0	PCDHB12	140569997	1.000000	0.71417	0.815000	0.32552	0.028000	0.11728	9.254000	0.95512	1.515000	0.48885	0.397000	0.26171	AAT		0.597	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		6	81	0	0	0	1	0	6	81				
TENM1	10178	broad.mit.edu	37	X	123663783	123663783	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chrX:123663783A>G	ENST00000371130.3	-	16	2765	c.2702T>C	c.(2701-2703)cTa>cCa	p.L901P	TENM1_ENST00000422452.2_Missense_Mutation_p.L901P	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	901					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)										CACTCCCACTAGAGGAGTTCC	0.473																																						ENST00000422452.2																			0											c.(2701-2703)cTa>cCa		teneurin transmembrane protein 1							127.0	98.0	108.0					X																	123663783		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123663783A>G	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.2702T>C	X.37:g.123663783A>G	ENSP00000360171:p.Leu901Pro					TENM1_ENST00000371130.3_Missense_Mutation_p.L901P	p.L901P	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					16	2765	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.2702T>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.508003	0.85282	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.21361	2.01;2.01	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000005	T	0.52075	0.1712	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.59611	-0.7422	10	0.87932	D	0	.	15.3026	0.73966	1.0:0.0:0.0:0.0	.	900;901;901	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	P	901	ENSP00000360171:L901P;ENSP00000403954:L901P	ENSP00000360171:L901P	L	-	2	0	ODZ1	123491464	1.000000	0.71417	0.991000	0.47740	0.964000	0.63967	9.339000	0.96797	1.997000	0.58415	0.481000	0.45027	CTA		0.473	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		3	66	0	0	0	1	0	3	66				
POTEC	388468	broad.mit.edu	37	18	14542693	14542693	+	Silent	SNP	C	C	T	rs371316587		TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr18:14542693C>T	ENST00000358970.5	-	1	452	c.453G>A	c.(451-453)aaG>aaA	p.K151K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	151								p.K151K(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTCTGGGGACCTTACCCCACC	0.592																																						ENST00000358970.5																			2	Substitution - coding silent(2)	p.K151K(2)	lung(1)|endometrium(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(451-453)aaG>aaA		POTE ankyrin domain family, member C							172.0	158.0	163.0					18																	14542693		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542693C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.453G>A	18.37:g.14542693C>T						POTEC_ENST00000389891.4_5'UTR	p.K151K	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	452	-			151						Silent	SNP	ENST00000358970.5	37	c.453G>A	CCDS45835.1																																																																																				0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	107	0	0	0	1	0	4	107				
RHOBTB1	9886	broad.mit.edu	37	10	62648781	62648781	+	Silent	SNP	T	T	C			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr10:62648781T>C	ENST00000337910.5	-	6	982	c.645A>G	c.(643-645)caA>caG	p.Q215Q	RHOBTB1_ENST00000357917.4_Silent_p.Q215Q	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	215					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATTTCCAGAATTGCAGGTGCC	0.478																																						ENST00000337910.5																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(643-645)caA>caG		Rho-related BTB domain containing 1							168.0	179.0	176.0					10																	62648781		2203	4300	6503	SO:0001819	synonymous_variant	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648781T>C	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.645A>G	10.37:g.62648781T>C						RHOBTB1_ENST00000357917.4_Silent_p.Q215Q	p.Q215Q	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN			6	982	-	Prostate(12;0.0112)		215						Silent	SNP	ENST00000337910.5	37	c.645A>G	CCDS7261.1																																																																																				0.478	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			14	153	0	0	0	1	0	14	153				
CRTAC1	55118	broad.mit.edu	37	10	99655137	99655137	+	Missense_Mutation	SNP	G	G	A	rs576681356		TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr10:99655137G>A	ENST00000370597.3	-	11	1706	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C	CRTAC1_ENST00000298819.4_Missense_Mutation_p.R451C|CRTAC1_ENST00000370591.2_Missense_Mutation_p.R451C	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	451						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		AACCGGGTGCGTGGCACCACT	0.632																																						ENST00000370597.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(1351-1353)Cgc>Tgc		cartilage acidic protein 1							64.0	59.0	61.0					10																	99655137		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99655137G>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1351C>T	10.37:g.99655137G>A	ENSP00000359629:p.Arg451Cys					CRTAC1_ENST00000370591.2_Missense_Mutation_p.R451C|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R451C	p.R451C	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	11	1706	-		Colorectal(252;0.24)	451					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.1351C>T	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642809	0.67244	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.74526	1.39;-0.85;1.38;-0.01;-0.01	5.06	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.82121	0.4968	M	0.77820	2.39	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.994	P;P;P	0.55785	0.784;0.642;0.613	T	0.82508	-0.0422	10	0.38643	T	0.18	-13.1077	14.9568	0.71120	0.0:0.0:0.8561:0.1439	.	451;451;347	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	C	347;451;451;443;451	ENSP00000408445:R347C;ENSP00000359629:R451C;ENSP00000298819:R451C;ENSP00000310810:R443C;ENSP00000359623:R451C	ENSP00000298819:R451C	R	-	1	0	CRTAC1	99645127	1.000000	0.71417	0.496000	0.27539	0.958000	0.62258	3.896000	0.56266	1.113000	0.41760	0.462000	0.41574	CGC		0.632	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		20	23	0	0	0	1	0	20	23				
CEACAM4	1089	broad.mit.edu	37	19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488																																						ENST00000221954.2																			1	Substitution - Missense(1)	p.A94T(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 4							166.0	157.0	160.0					19																	42132119		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132119C>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.280G>A	19.37:g.42132119C>T	ENSP00000221954:p.Ala94Thr					CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN			2	390	-			94			Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.280G>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639939	0.47153	.	.	ENSG00000105352	ENST00000221954	T	0.66280	-0.2	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76278	0.3965	M	0.84219	2.685	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.73380	0.921;0.98	T	0.61207	-0.7109	9	0.66056	D	0.02	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	94;94	E7EMX3;O75871	.;CEAM4_HUMAN	T	94	ENSP00000221954:A94T	ENSP00000221954:A94T	A	-	1	0	CEACAM4	46823959	0.000000	0.05858	0.009000	0.14445	0.015000	0.08874	0.618000	0.24373	1.281000	0.44480	0.205000	0.17691	GCA		0.488	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		4	132	0	0	0	1	0	4	132				
CACNA1H	8912	broad.mit.edu	37	16	1261233	1261233	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr16:1261233T>C	ENST00000348261.5	+	22	4537	c.4289T>C	c.(4288-4290)aTt>aCt	p.I1430T	CACNA1H_ENST00000565831.1_Missense_Mutation_p.I1430T|CACNA1H_ENST00000358590.4_Missense_Mutation_p.I1430T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1430					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CTCAGGCCCATTGGGAACATC	0.602																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(4288-4290)aTt>aCt		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						107.0	122.0	117.0					16																	1261233		2168	4253	6421	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1261233T>C	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4289T>C	16.37:g.1261233T>C	ENSP00000334198:p.Ile1430Thr					CACNA1H_ENST00000358590.4_Missense_Mutation_p.I1430T|CACNA1H_ENST00000565831.1_Missense_Mutation_p.I1430T	p.I1430T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			22	4537	+		Hepatocellular(780;0.00369)	1430					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.4289T>C	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.886908	0.72410	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98849	-5.18;-5.18	4.35	4.35	0.52113	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	M	0.91459	3.21	0.53005	D	0.999965	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.938;0.998	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.991;0.995	D	0.99123	1.0850	10	0.87932	D	0	.	13.1374	0.59417	0.0:0.0:0.0:1.0	.	171;171;171;1430;1430	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	T	1430	ENSP00000334198:I1430T;ENSP00000351401:I1430T	ENSP00000334198:I1430T	I	+	2	0	CACNA1H	1201234	1.000000	0.71417	0.996000	0.52242	0.567000	0.35839	7.607000	0.82883	1.953000	0.56701	0.402000	0.26972	ATT		0.602	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		4	72	0	0	0	1	0	4	72				
CHL1	10752	broad.mit.edu	37	3	382547	382547	+	Silent	SNP	A	A	G	rs146408628		TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr3:382547A>G	ENST00000256509.2	+	6	1098	c.456A>G	c.(454-456)ccA>ccG	p.P152P	CHL1_ENST00000397491.2_Silent_p.P152P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGTCCTCCCATGCAATCCTC	0.383																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(454-456)ccA>ccG		cell adhesion molecule L1-like							76.0	72.0	73.0					3																	382547		2203	4300	6503	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:382547A>G	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.456A>G	3.37:g.382547A>G						CHL1_ENST00000397491.2_Silent_p.P152P	p.P152P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	6	1098	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	152			Ig-like C2-type 2.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.456A>G	CCDS2556.1																																																																																				0.383	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		21	29	0	0	0	1	0	21	29				
SUPT20H	55578	broad.mit.edu	37	13	37598536	37598536	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr13:37598536C>T	ENST00000350612.6	-	18	1593	c.1373G>A	c.(1372-1374)gGt>gAt	p.G458D	SUPT20H_ENST00000542180.1_Missense_Mutation_p.G422D|SUPT20H_ENST00000360252.4_Missense_Mutation_p.G459D|SUPT20H_ENST00000356185.3_Missense_Mutation_p.G459D|SUPT20H_ENST00000464744.1_Missense_Mutation_p.G459D|SUPT20H_ENST00000475892.1_Missense_Mutation_p.G458D	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	458					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										ATGTTTTACACCCTTCCCCAA	0.378																																						ENST00000360252.4																			0											c.(1375-1377)gGt>gAt		suppressor of Ty 20 homolog (S. cerevisiae)							78.0	73.0	75.0					13																	37598536		2203	4300	6503	SO:0001583	missense	55578							g.chr13:37598536C>T	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1373G>A	13.37:g.37598536C>T	ENSP00000218894:p.Gly458Asp					SUPT20H_ENST00000350612.6_Missense_Mutation_p.G458D|SUPT20H_ENST00000464744.1_Missense_Mutation_p.G459D|SUPT20H_ENST00000542180.1_Missense_Mutation_p.G422D|SUPT20H_ENST00000475892.1_Missense_Mutation_p.G458D|SUPT20H_ENST00000356185.3_Missense_Mutation_p.G459D	p.G459D	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1					18	1623	-								E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	c.1376G>A	CCDS31959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.255850|4.255850	0.80135|0.80135	.|.	.|.	ENSG00000102710|ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180|ENST00000469488	T;T;T;T;T;T|.	0.57752|.	0.62;0.52;1.16;0.62;0.62;0.38|.	5.87|5.87	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77870|0.77870	0.4195|0.4195	M|M	0.81802|0.81802	2.56|2.56	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D;D;D|.	0.64830|.	0.967;0.967;0.992;0.982;0.989;0.994;0.989|.	P;P;D;P;P;P;P|.	0.63597|.	0.792;0.792;0.916;0.798;0.869;0.835;0.869|.	T|T	0.79676|0.79676	-0.1704|-0.1704	10|5	0.46703|.	T|.	0.11|.	-10.1248|-10.1248	17.1383|17.1383	0.86745|0.86745	0.0:0.8736:0.1264:0.0|0.0:0.8736:0.1264:0.0	.|.	422;458;458;459;459;458;458|.	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7;F5GX46|.	.;.;.;.;.;FA48A_HUMAN;.|.	D|M	459;458;458;459;458;459;422|66	ENSP00000353388:G459D;ENSP00000417510:G458D;ENSP00000218894:G458D;ENSP00000348512:G459D;ENSP00000419754:G459D;ENSP00000439000:G422D|.	ENSP00000218894:G458D|.	G|V	-|-	2|1	0|0	FAM48A|FAM48A	36496536|36496536	1.000000|1.000000	0.71417|0.71417	0.556000|0.556000	0.28293|0.28293	0.750000|0.750000	0.42670|0.42670	7.056000|7.056000	0.76662|0.76662	1.476000|1.476000	0.48215|0.48215	0.585000|0.585000	0.79938|0.79938	GGT|GTG		0.378	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		4	39	0	0	0	1	0	4	39				
ATP8B1	5205	broad.mit.edu	37	18	55338716	55338716	+	Missense_Mutation	SNP	G	G	C			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr18:55338716G>C	ENST00000283684.4	-	16	1915	c.1916C>G	c.(1915-1917)aCa>aGa	p.T639R	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.T639R|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	639					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GGCATCCTGTGTTTCTTGCTT	0.398																																						ENST00000536015.1																			0				breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53						c.(1915-1917)aCa>aGa		ATPase, aminophospholipid transporter, class I, type 8B, member 1							159.0	137.0	144.0					18																	55338716		2203	4300	6503	SO:0001583	missense	5205				ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55338716G>C	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1916C>G	18.37:g.55338716G>C	ENSP00000283684:p.Thr639Arg					RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.T639R|RP11-35G9.3_ENST00000599199.1_RNA	p.T639R	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN			17	2035	-		Colorectal(73;0.229)	639					Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	c.1916C>G	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720450	0.89205	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.70282	-0.47;-0.47	5.73	5.73	0.89815	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.049574	0.85682	D	0.000000	D	0.90212	0.6940	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92939	0.6370	10	0.87932	D	0	.	19.5004	0.95091	0.0:0.0:1.0:0.0	.	639	O43520	AT8B1_HUMAN	R	639	ENSP00000283684:T639R;ENSP00000445359:T639R	ENSP00000283684:T639R	T	-	2	0	ATP8B1	53489714	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	9.685000	0.98661	2.698000	0.92095	0.655000	0.94253	ACA		0.398	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		23	56	0	0	0	1	0	23	56				
FNDC1	84624	broad.mit.edu	37	6	159647583	159647583	+	Missense_Mutation	SNP	C	C	T	rs201538256		TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr6:159647583C>T	ENST00000297267.9	+	9	1351	c.1151C>T	c.(1150-1152)gCg>gTg	p.A384V	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.A384V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	384	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCTTGGGATGCGCTACCAGAG	0.473																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1150-1152)gCg>gTg		fibronectin type III domain containing 1		C	VAL/ALA	0,3824		0,0,1912	100.0	96.0	98.0		1151	4.4	0.0	6		98	1,8257		0,1,4128	yes	missense	FNDC1	NM_032532.2	64	0,1,6040	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging	384/1895	159647583	1,12081	1912	4129	6041	SO:0001583	missense	84624					extracellular region		g.chr6:159647583C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1151C>T	6.37:g.159647583C>T	ENSP00000297267:p.Ala384Val					FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Missense_Mutation_p.A384V	p.A384V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	9	1351	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	384			Fibronectin type-III 4.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.1151C>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886221	0.51908	0.0	1.21E-4	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.58940	0.3;4.01	5.3	4.42	0.53409	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.279587	0.34777	N	0.003696	T	0.41442	0.1159	L	0.50333	1.59	0.23577	N	0.997376	P;D	0.53462	0.951;0.96	P;P	0.48704	0.451;0.587	T	0.28522	-1.0041	10	0.49607	T	0.09	-5.1754	9.4985	0.39004	0.1408:0.7865:0.0:0.0726	.	384;384	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	V	384	ENSP00000297267:A384V;ENSP00000342460:A384V	ENSP00000297267:A384V	A	+	2	0	FNDC1	159567571	0.571000	0.26659	0.001000	0.08648	0.739000	0.42172	3.165000	0.50778	1.362000	0.46000	0.655000	0.94253	GCG		0.473	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		3	10	0	0	0	1	0	3	10				
CHMP4B	128866	broad.mit.edu	37	20	32436406	32436406	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr20:32436406C>G	ENST00000217402.2	+	2	489	c.324C>G	c.(322-324)aaC>aaG	p.N108K		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	108					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						TGCTCAAGAACATGGGCTATG	0.602																																						ENST00000217402.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(322-324)aaC>aaG		charged multivesicular body protein 4B							118.0	74.0	89.0					20																	32436406		2203	4300	6503	SO:0001583	missense	128866				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr20:32436406C>G	AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"""Charged multivesicular body proteins"""	16171	protein-coding gene	gene with protein product		610897	"""chromosome 20 open reading frame 178"", ""chromatin modifying protein 4B"""	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	ENST00000217402.2:c.324C>G	20.37:g.32436406C>G	ENSP00000217402:p.Asn108Lys						p.N108K	NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN			2	489	+			108					E1P5N4|Q53ZD6	Missense_Mutation	SNP	ENST00000217402.2	37	c.324C>G	CCDS13228.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163922	0.78226	.	.	ENSG00000101421	ENST00000217402	T	0.71579	-0.58	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.80470	0.4629	M	0.83692	2.655	0.58432	D	0.999995	P	0.42993	0.797	P	0.52424	0.698	T	0.81682	-0.0822	10	0.51188	T	0.08	-24.22	12.2451	0.54566	0.0:0.8775:0.0:0.1225	.	108	Q9H444	CHM4B_HUMAN	K	108	ENSP00000217402:N108K	ENSP00000217402:N108K	N	+	3	2	CHMP4B	31900067	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.611000	0.24268	2.570000	0.86706	0.467000	0.42956	AAC		0.602	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078738.2			5	31	0	0	0	1	0	5	31				
PARD3	56288	broad.mit.edu	37	10	34408631	34408631	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr10:34408631G>A	ENST00000374789.3	-	24	3912	c.3587C>T	c.(3586-3588)tCg>tTg	p.S1196L	PARD3_ENST00000346874.4_Missense_Mutation_p.S1159L|PARD3_ENST00000374788.3_Missense_Mutation_p.S1193L|PARD3_ENST00000545260.1_Missense_Mutation_p.S1106L|PARD3_ENST00000374790.3_Missense_Mutation_p.S1136L|PARD3_ENST00000545693.1_Missense_Mutation_p.S1180L|PARD3_ENST00000350537.4_Missense_Mutation_p.S1150L|PARD3_ENST00000374794.3_Missense_Mutation_p.S1084L	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1196					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CACGGACACCGAGTGTCGCCC	0.612																																						ENST00000374789.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63						c.(3586-3588)tCg>tTg		par-3 family cell polarity regulator							25.0	23.0	23.0					10																	34408631		2202	4297	6499	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34408631G>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3587C>T	10.37:g.34408631G>A	ENSP00000363921:p.Ser1196Leu					PARD3_ENST00000545693.1_Missense_Mutation_p.S1180L|PARD3_ENST00000346874.4_Missense_Mutation_p.S1159L|PARD3_ENST00000545260.1_Missense_Mutation_p.S1106L|PARD3_ENST00000350537.4_Missense_Mutation_p.S1150L|PARD3_ENST00000374788.3_Missense_Mutation_p.S1193L|PARD3_ENST00000374790.3_Missense_Mutation_p.S1136L|PARD3_ENST00000374794.3_Missense_Mutation_p.S1084L	p.S1196L	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN			24	3912	-		Breast(68;0.0707)	1196					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.3587C>T	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	35	5.502000	0.96371	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.16897	2.39;2.32;2.46;2.46;2.37;2.31;2.32;2.4	5.4	5.4	0.78164	.	0.133895	0.52532	D	0.000071	T	0.40498	0.1119	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.83275	0.996;0.975;0.996;0.996;0.996;0.996;0.996;0.99	T	0.14035	-1.0487	10	0.72032	D	0.01	.	19.172	0.93581	0.0:0.0:1.0:0.0	.	1084;1106;1113;1150;1180;1159;1193;1196	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	L	1180;1106;1196;1193;1159;1084;1150;1136	ENSP00000443147:S1180L;ENSP00000440857:S1106L;ENSP00000363921:S1196L;ENSP00000363920:S1193L;ENSP00000340591:S1159L;ENSP00000363926:S1084L;ENSP00000311986:S1150L;ENSP00000363922:S1136L	ENSP00000340591:S1159L	S	-	2	0	PARD3	34448637	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	9.467000	0.97671	2.541000	0.85698	0.650000	0.86243	TCG		0.612	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		10	22	0	0	0	1	0	10	22				
TDGF1	6997	broad.mit.edu	37	3	46620740	46620740	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr3:46620740T>C	ENST00000296145.5	+	3	840	c.107T>C	c.(106-108)tTt>tCt	p.F36S	LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.F20S	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	36					activation of MAPK activity (GO:0000187)|anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle cell differentiation (GO:0055007)|cell differentiation (GO:0030154)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-6 (GO:0071354)|cellular response to tumor necrosis factor (GO:0071356)|embryo development (GO:0009790)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of signal transduction (GO:0009966)|vasculogenesis (GO:0001570)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	growth factor activity (GO:0008083)|receptor binding (GO:0005102)			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CATCAGGAATTTGCTCGTCCA	0.507																																						ENST00000296145.5																			0				cervix(2)|endometrium(1)|kidney(1)|lung(4)	8						c.(106-108)tTt>tCt		teratocarcinoma-derived growth factor 1							92.0	88.0	90.0					3																	46620740		2203	4300	6503	SO:0001583	missense	6997				activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity	g.chr3:46620740T>C	M96955	CCDS2742.1, CCDS54575.1	3p21.31	2012-10-03			ENSG00000241186	ENSG00000241186			11701	protein-coding gene	gene with protein product		187395				1882841, 10393436	Standard	NM_003212		Approved	CRIPTO, CR, Cripto-1	uc021wxd.1	P13385	OTTHUMG00000133482	ENST00000296145.5:c.107T>C	3.37:g.46620740T>C	ENSP00000296145:p.Phe36Ser					LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.F20S	p.F36S	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	3	840	+			36					Q8TCC1	Missense_Mutation	SNP	ENST00000296145.5	37	c.107T>C	CCDS2742.1	.	.	.	.	.	.	.	.	.	.	T	11.12	1.544905	0.27652	.	.	ENSG00000241186	ENST00000542931;ENST00000296145	T;T	0.63255	-0.03;-0.02	3.94	0.32	0.15878	.	1.222030	0.05956	N	0.639745	T	0.39253	0.1071	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.21109	-1.0255	10	0.30078	T	0.28	.	5.8257	0.18552	0.0:0.3484:0.0:0.6516	.	36	P13385	TDGF1_HUMAN	S	20;36	ENSP00000446375:F20S;ENSP00000296145:F36S	ENSP00000296145:F36S	F	+	2	0	AC104304.1	46595744	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.118000	0.15605	0.045000	0.15804	0.533000	0.62120	TTT		0.507	TDGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257378.2	NM_003212		9	47	0	0	0	1	0	9	47				
MAP1B	4131	broad.mit.edu	37	5	71491183	71491184	+	Frame_Shift_Ins	INS	-	-	CCTAC			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr5:71491183_71491184insCCTAC	ENST00000296755.7	+	5	2299_2300	c.2001_2002insCCTAC	c.(2002-2004)cctfs	p.-668fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B						axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGGACAAAACACCTATCAAGaa	0.366																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(1999-2004)acctatfs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491183_71491184insCCTAC	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	Exception_encountered	5.37:g.71491183_71491184insCCTAC	ENSP00000296755:p.Pro668fs						p.Y668fs	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2299_2300	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	668			Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).		A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.2001_2002insCCTAC	CCDS4012.1																																																																																				0.366	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		4	9						4	9	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100369721	100369721	+	RNA	DEL	T	T	-			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr7:100369721delT	ENST00000348028.3	+	0	5590				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ctctaaattcttttttttttt	0.532																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100369721delT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369721delT						ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5573	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.532	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	4						2	4	---	---	---	---
BHLHE22	27319	broad.mit.edu	37	8	65494020	65494021	+	In_Frame_Ins	INS	-	-	GCA	rs71561231|rs34265378|rs62519836|rs564889045	byFrequency	TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr8:65494020_65494021insGCA	ENST00000321870.1	+	1	1207_1208	c.673_674insGCA	c.(673-675)ggc>gGCAgc	p.234_235insS	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	234	Ser-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S234delS(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						cggcagcggcggcagcagcagc	0.718																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			1	Deletion - In frame(1)	p.S234delS(1)	central_nervous_system(1)	NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(673-675)cag>GCAcag		basic helix-loop-helix family, member e22																																				SO:0001652	inframe_insertion	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65494020_65494021insGCA	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.701_703dupGCA	8.37:g.65494027_65494029dupGCA	ENSP00000318799:p.Ser234_Ser234dup					RP11-21C4.1_ENST00000517909.1_RNA	p.224_225insA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	1207_1208	+			224			Gly-rich.|Ser-rich.			In_Frame_Ins	INS	ENST00000321870.1	37	c.673_674insGCA	CCDS6179.1																																																																																				0.718	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		2	4						2	4	---	---	---	---
NUTM2F	54754	broad.mit.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	AGA	-	rs150455117|rs112857574	byFrequency	TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr9:97080945_97080947delAGA	ENST00000253262.4	-	7	2091_2093	c.2071_2073delTCT	c.(2071-2073)tctdel	p.S691del	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	691				Missing (in Ref. 2; AAI30391 and 3; CAB61394). {ECO:0000305}.				p.S557delS(1)									TGCTGGCAGGAGAAGGTGATGGG	0.611														3777	0.754193	0.6051	0.8084	5008	,	,		15297	0.8869		0.7227	False		,,,				2504	0.8129					ENST00000253262.4																			1	Deletion - In frame(1)	p.S557delS(1)	central_nervous_system(1)								c.(2071-2073)del		NUT family member 2F				2288,1260		619,1050,105						-3.0	0.0		dbSNP_134	20	5646,2060		2048,1550,255	no	coding	FAM22F	NM_017561.1		2667,2600,360	A1A1,A1R,RR		26.7324,35.513,29.5006				7934,3320				SO:0001651	inframe_deletion	54754							g.chr9:97080945_97080947delAGA		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2071_2073delTCT	9.37:g.97080945_97080947delAGA	ENSP00000253262:p.Ser691del					NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del	p.S691del	NM_017561.1	NP_060031.1					7	2091_2093	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	In_Frame_Del	DEL	ENST00000253262.4	37	c.2071_2073delTCT	CCDS47994.1																																																																																				0.611	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		3	5						3	5	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438																																						ENST00000429810.2																			0																																																			0							g.chr16:74372915delT																													16.37:g.74372915delT														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.438	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			3	6						3	6	---	---	---	---
FECH	2235	broad.mit.edu	37	18	55253811	55253811	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A81D-01A-11D-A35I-08	TCGA-WB-A81D-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d05a53-ab4d-44e0-b2bf-94e0e80da830	fa630d71-91a2-4852-8728-fd3a2de4677c	g.chr18:55253811delG	ENST00000262093.5	-	1	193	c.42delC	c.(40-42)gccfs	p.A15fs	FECH_ENST00000382873.3_Frame_Shift_Del_p.A15fs|FECH_ENST00000585699.1_5'UTR	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	15					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GGACGCCCGCGGCGCGCAGGG	0.756																																						ENST00000262093.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(40-42)gcfs		ferrochelatase							3.0	4.0	3.0					18																	55253811		1678	3430	5108	SO:0001589	frameshift_variant	2235				generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	g.chr18:55253811delG	D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"""protoporphyria"""	612386	"""ferrochelatase (protoporphyria)"""			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.42delC	18.37:g.55253811delG	ENSP00000262093:p.Ala15fs					FECH_ENST00000585699.1_5'UTR|FECH_ENST00000382873.3_Frame_Shift_Del_p.A15fs	p.A15fs	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN			1	193	-		Colorectal(73;0.227)	15					A8KA72|Q8IXN1|Q8NAN0	Frame_Shift_Del	DEL	ENST00000262093.5	37	c.42delC	CCDS11964.1																																																																																				0.756	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1			2	4						2	4	---	---	---	---
