#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
ZFHX3	463	broad.mit.edu	37	16	72993190	72993190	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:72993190G>C	ENST00000268489.5	-	2	1527	c.855C>G	c.(853-855)ttC>ttG	p.F285L	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	285					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTTTGCACAAGAAACACATCA	0.498																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(853-855)ttC>ttG		zinc finger homeobox 3							105.0	93.0	97.0					16																	72993190		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72993190G>C	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.855C>G	16.37:g.72993190G>C	ENSP00000268489:p.Phe285Leu					ZFHX3_ENST00000397992.5_Intron	p.F285L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	1527	-		Ovarian(137;0.13)	285					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.855C>G	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281098	0.23392	.	.	ENSG00000140836	ENST00000268489	D	0.85258	-1.96	4.51	4.51	0.55191	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.51477	D	0.000089	D	0.90618	0.7058	M	0.75085	2.285	0.80722	D	1	D	0.64830	0.994	D	0.72338	0.977	D	0.90413	0.4411	10	0.49607	T	0.09	.	11.1612	0.48516	0.0855:0.0:0.9145:0.0	.	285	Q15911	ZFHX3_HUMAN	L	285	ENSP00000268489:F285L	ENSP00000268489:F285L	F	-	3	2	ZFHX3	71550691	1.000000	0.71417	0.982000	0.44146	0.957000	0.61999	3.336000	0.52113	2.235000	0.73313	0.491000	0.48974	TTC		0.498	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		36	80	0	0	0	0.003271	0	36	80				
EPHB3	2049	broad.mit.edu	37	3	184298946	184298946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:184298946C>T	ENST00000330394.2	+	14	3177	c.2725C>T	c.(2725-2727)Cag>Tag	p.Q909*	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	909					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGCCAGCGCTCAGTCTGGGTT	0.572																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2725-2727)Cag>Tag		EPH receptor B3							83.0	94.0	90.0					3																	184298946		2203	4300	6503	SO:0001587	stop_gained	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184298946C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2725C>T	3.37:g.184298946C>T	ENSP00000332118:p.Gln909*					EIF2B5_ENST00000444495.1_Intron	p.Q909*	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		14	3177	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		909					Q7Z740	Nonsense_Mutation	SNP	ENST00000330394.2	37	c.2725C>T	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	C	42	9.186156	0.99094	.	.	ENSG00000182580	ENST00000330394	.	.	.	4.39	4.39	0.52855	.	0.423208	0.25497	N	0.030264	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	16.3377	0.83071	0.0:1.0:0.0:0.0	.	.	.	.	X	909	.	ENSP00000332118:Q909X	Q	+	1	0	EPHB3	185781640	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	3.797000	0.55514	2.190000	0.69967	0.549000	0.68633	CAG		0.572	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		48	127	0	0	0	0.014410	0	48	127				
LPIN1	23175	broad.mit.edu	37	2	11955216	11955216	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:11955216A>G	ENST00000256720.2	+	17	2237	c.2144A>G	c.(2143-2145)aAt>aGt	p.N715S	LPIN1_ENST00000404113.2_Missense_Mutation_p.N216S|LPIN1_ENST00000449576.2_Missense_Mutation_p.N800S|LPIN1_ENST00000425416.2_Missense_Mutation_p.N721S|LPIN1_ENST00000396097.1_Missense_Mutation_p.N445S|LPIN1_ENST00000396099.1_Missense_Mutation_p.N757S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	715	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TCTTTCAGGAATGGATATAAA	0.488																																						ENST00000256720.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(2143-2145)aAt>aGt		lipin 1							50.0	49.0	49.0					2																	11955216		2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11955216A>G	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2144A>G	2.37:g.11955216A>G	ENSP00000256720:p.Asn715Ser					LPIN1_ENST00000404113.2_Missense_Mutation_p.N216S|LPIN1_ENST00000449576.2_Missense_Mutation_p.N800S|LPIN1_ENST00000425416.2_Missense_Mutation_p.N721S|LPIN1_ENST00000396097.1_Missense_Mutation_p.N445S|LPIN1_ENST00000396099.1_Missense_Mutation_p.N757S	p.N715S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	17	2237	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		715			C-LIP.		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.2144A>G	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.876202	0.51801	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	4.69	4.69	0.59074	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.89305	0.6677	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.999	D;D;D	0.91635	0.951;0.999;0.987	D	0.91326	0.5086	10	0.72032	D	0.01	-30.6881	14.1851	0.65601	1.0:0.0:0.0:0.0	.	216;800;715	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	S	800;757;721;715;445;216	ENSP00000397908:N800S;ENSP00000379406:N757S;ENSP00000401522:N721S;ENSP00000256720:N715S;ENSP00000379404:N445S;ENSP00000386120:N216S	ENSP00000256720:N715S	N	+	2	0	LPIN1	11872667	1.000000	0.71417	0.699000	0.30290	0.044000	0.14063	8.780000	0.91799	1.752000	0.51891	0.533000	0.62120	AAT		0.488	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		18	36	0	0	0	0.006122	0	18	36				
SDHA	6389	broad.mit.edu	37	5	225544	225544	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:225544A>G	ENST00000264932.6	+	4	438	c.323A>G	c.(322-324)aAt>aGt	p.N108S	SDHA_ENST00000504309.1_Missense_Mutation_p.N108S|SDHA_ENST00000510361.1_Intron	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	108					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GGAGGAATCAATGCTGCTCTG	0.572									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(322-324)aAt>aGt		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						72.0	79.0	76.0					5																	225544		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:225544A>G	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.323A>G	5.37:g.225544A>G	ENSP00000264932:p.Asn108Ser					SDHA_ENST00000504309.1_Missense_Mutation_p.N108S|SDHA_ENST00000510361.1_Intron	p.N108S	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		4	438	+			108					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.323A>G	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	-	12.61	1.988964	0.35131	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309	T;T	0.70631	-0.5;-0.5	5.27	5.27	0.74061	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.77452	0.4132	L	0.42008	1.315	0.80722	D	1	P;D;P;P	0.89917	0.854;1.0;0.718;0.589	P;D;B;B	0.97110	0.449;1.0;0.206;0.122	T	0.74538	-0.3632	10	0.27785	T	0.31	.	13.4858	0.61364	1.0:0.0:0.0:0.0	.	108;108;108;114	B4DYN5;D6RFM5;P31040;Q59GW8	.;.;DHSA_HUMAN;.	S	108	ENSP00000264932:N108S;ENSP00000426514:N108S	ENSP00000264932:N108S	N	+	2	0	SDHA	278544	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.640000	0.91028	2.136000	0.66102	0.524000	0.50904	AAT		0.572	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		4	181	0	0	0	0.000602	0	4	181				
TOB2	10766	broad.mit.edu	37	22	41832490	41832490	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr22:41832490C>G	ENST00000327492.3	-	2	1566	c.860G>C	c.(859-861)gGa>gCa	p.G287A		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	287				QGSGTPGPFGGSGAGTCNSSSFDMAQVFGGGANSLFLEKT -> RAAAPQARLEAVGLAPATAAALTWPRYLEVVPTASSWR RH (in Ref. 1; BAA10971). {ECO:0000305}.	female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CCCACTGCCTCCAAACGGGCC	0.607																																						ENST00000327492.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(859-861)gGa>gCa		transducer of ERBB2, 2							35.0	35.0	35.0					22																	41832490		2203	4300	6503	SO:0001583	missense	10766				female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus		g.chr22:41832490C>G	D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.860G>C	22.37:g.41832490C>G	ENSP00000331305:p.Gly287Ala						p.G287A	NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN			2	1566	-			287	QGSGTPGPFGGSGAGTCNSSSFDMAQVFGGGANSLFLEKT -> RAAAPQARLEAVGLAPATAAALTWPRYLEVVPTASSWR RH (in Ref. 1; BAA10971).				Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Missense_Mutation	SNP	ENST00000327492.3	37	c.860G>C	CCDS14015.1	.	.	.	.	.	.	.	.	.	.	C	8.371	0.835235	0.16820	.	.	ENSG00000183864	ENST00000327492	T	0.41400	1.0	5.18	4.15	0.48705	.	0.461581	0.17790	N	0.161936	T	0.27205	0.0667	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13335	-1.0513	10	0.08837	T	0.75	.	13.3993	0.60872	0.0:0.6149:0.3851:0.0	.	287	Q14106	TOB2_HUMAN	A	287	ENSP00000331305:G287A	ENSP00000331305:G287A	G	-	2	0	TOB2	40162436	0.123000	0.22298	0.966000	0.40874	0.863000	0.49368	0.326000	0.19646	1.197000	0.43143	0.579000	0.79373	GGA		0.607	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1	NM_016272		25	24	0	0	0	0.003954	0	25	24				
HUNK	30811	broad.mit.edu	37	21	33371383	33371383	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr21:33371383G>C	ENST00000270112.2	+	11	2391	c.2031G>C	c.(2029-2031)caG>caC	p.Q677H		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	677					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						AGCGCCATCAGAGTCTGCAGC	0.612																																						ENST00000270112.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(2029-2031)caG>caC		hormonally up-regulated Neu-associated kinase							58.0	64.0	62.0					21																	33371383		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33371383G>C	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.2031G>C	21.37:g.33371383G>C	ENSP00000270112:p.Gln677His						p.Q677H	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN			11	2391	+			677						Missense_Mutation	SNP	ENST00000270112.2	37	c.2031G>C	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271264	0.40194	.	.	ENSG00000142149	ENST00000270112	T	0.75477	-0.94	4.21	3.32	0.38043	.	0.000000	0.64402	D	0.000001	T	0.75004	0.3791	L	0.29908	0.895	0.44085	D	0.996843	D	0.67145	0.996	D	0.75484	0.986	T	0.73512	-0.3959	10	0.51188	T	0.08	-13.7379	7.2784	0.26297	0.0854:0.0:0.745:0.1696	.	677	P57058	HUNK_HUMAN	H	677	ENSP00000270112:Q677H	ENSP00000270112:Q677H	Q	+	3	2	HUNK	32293254	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	2.805000	0.47939	0.971000	0.38288	0.591000	0.81541	CAG		0.612	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		30	63	0	0	0	0.006320	0	30	63				
SPATA21	374955	broad.mit.edu	37	1	16757777	16757777	+	Intron	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:16757777C>G	ENST00000335496.1	-	3	517				SPATA21_ENST00000375577.1_Missense_Mutation_p.K30N|SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Intron	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21								calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CACCAGCCCTCTTTATGGTGA	0.562																																						ENST00000375577.1																			0				breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19						c.(88-90)aaG>aaC		spermatogenesis associated 21							101.0	90.0	94.0					1																	16757777		692	1591	2283	SO:0001627	intron_variant	374955						calcium ion binding	g.chr1:16757777C>G		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.34+55G>C	1.37:g.16757777C>G						SPATA21_ENST00000335496.1_Intron|SPATA21_ENST00000540400.1_Intron|SPATA21_ENST00000466212.1_5'UTR	p.K30N			Q7Z572	SPT21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)	2	429	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	31					B9EK40|F5GXP5	Missense_Mutation	SNP	ENST00000335496.1	37	c.90G>C	CCDS172.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104005	0.37145	.	.	ENSG00000187144	ENST00000375577	.	.	.	3.64	0.592	0.17471	.	.	.	.	.	T	0.36524	0.0970	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31530	-0.9940	5	0.49607	T	0.09	.	5.6584	0.17654	0.0:0.4964:0.3911:0.1125	.	.	.	.	N	30	.	ENSP00000364727:K30N	K	-	3	2	SPATA21	16630364	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.411000	0.21115	0.132000	0.18615	0.650000	0.86243	AAG		0.562	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		16	22	0	0	0	0.004007	0	16	22				
FTO	79068	broad.mit.edu	37	16	53844097	53844097	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:53844097C>G	ENST00000471389.1	+	2	313	c.91C>G	c.(91-93)Ctg>Gtg	p.L31V	FTO_ENST00000394647.3_5'UTR	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	31					adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCTCCCTTATCTGACCCCCAA	0.343																																						ENST00000471389.1																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(91-93)Ctg>Gtg		fat mass and obesity associated							80.0	87.0	84.0					16																	53844097		2198	4300	6498	SO:0001583	missense	79068				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:53844097C>G	BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"""Alkylation repair homologs"""	24678	protein-coding gene	gene with protein product	"""AlkB homolog 9"", ""alpha-ketoglutarate-dependent dioxygenase"""	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.91C>G	16.37:g.53844097C>G	ENSP00000418823:p.Leu31Val					FTO_ENST00000394647.3_5'UTR	p.L31V	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN			2	313	+			31					A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	ENST00000471389.1	37	c.91C>G	CCDS32448.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396430	0.62177	.	.	ENSG00000140718	ENST00000471389	T	0.75367	-0.93	5.06	4.09	0.47781	.	0.073795	0.56097	N	0.000030	T	0.76234	0.3959	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.76745	-0.2846	10	0.72032	D	0.01	-2.1565	8.4205	0.32698	0.0:0.762:0.1561:0.0819	.	31	Q9C0B1	FTO_HUMAN	V	31	ENSP00000418823:L31V	ENSP00000418424:L31V	L	+	1	2	FTO	52401598	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.810000	0.27183	1.099000	0.41499	0.650000	0.86243	CTG		0.343	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352196.1	NM_001080432		21	43	0	0	0	0.010504	0	21	43				
ZNF106	64397	broad.mit.edu	37	15	42743338	42743338	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:42743338G>C	ENST00000263805.4	-	2	1389	c.1063C>G	c.(1063-1065)Cag>Gag	p.Q355E	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	355					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGAGTCTTCTGAGAAGGGTAA	0.448																																						ENST00000263805.4																			0											c.(1063-1065)Cag>Gag		zinc finger protein 106							118.0	113.0	115.0					15																	42743338		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42743338G>C	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1063C>G	15.37:g.42743338G>C	ENSP00000263805:p.Gln355Glu					ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.Q355E	NM_022473.1	NP_071918.1					2	1389	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.1063C>G	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985150	0.74474	.	.	ENSG00000103994	ENST00000263805	T	0.68331	-0.32	5.87	5.87	0.94306	.	0.300594	0.32273	N	0.006325	T	0.80154	0.4571	M	0.63843	1.955	0.80722	D	1	D;D	0.69078	0.997;0.991	D;P	0.64042	0.921;0.82	T	0.80248	-0.1461	10	0.66056	D	0.02	-12.5091	20.1943	0.98239	0.0:0.0:1.0:0.0	.	138;355	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	E	355	ENSP00000263805:Q355E	ENSP00000263805:Q355E	Q	-	1	0	ZFP106	40530630	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	5.260000	0.65490	2.773000	0.95371	0.651000	0.88453	CAG		0.448	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		49	60	0	0	0	0.014410	0	49	60				
GALNTL5	168391	broad.mit.edu	37	7	151711769	151711769	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:151711769C>G	ENST00000392800.2	+	8	1321	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	GALNTL5_ENST00000431418.2_Missense_Mutation_p.S356C	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	356	Catalytic subdomain B.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATCCCCTGCTCTCGAGTAGGA	0.413																																						ENST00000392800.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(1066-1068)tCt>tGt		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							147.0	131.0	136.0					7																	151711769		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151711769C>G	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1067C>G	7.37:g.151711769C>G	ENSP00000376548:p.Ser356Cys					GALNTL5_ENST00000431418.2_Missense_Mutation_p.S356C	p.S356C	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	8	1321	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	356			Catalytic subdomain B.		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.1067C>G	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664338	0.67700	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.61274	0.12;0.12	3.64	3.64	0.41730	.	0.000000	0.35151	N	0.003406	D	0.83312	0.5227	H	0.98178	4.165	0.50171	D	0.999853	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.88536	0.3106	10	0.87932	D	0	.	12.1494	0.54042	0.0:1.0:0.0:0.0	.	107;356	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	C	356	ENSP00000392582:S356C;ENSP00000376548:S356C	ENSP00000376548:S356C	S	+	2	0	GALNTL5	151342702	1.000000	0.71417	0.988000	0.46212	0.952000	0.60782	6.341000	0.72977	1.869000	0.54173	0.491000	0.48974	TCT		0.413	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		34	52	0	0	0	0.013726	0	34	52				
SLC34A2	10568	broad.mit.edu	37	4	25671434	25671434	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr4:25671434C>T	ENST00000382051.3	+	7	851	c.801C>T	c.(799-801)atC>atT	p.I267I	SLC34A2_ENST00000504570.1_Silent_p.I266I|SLC34A2_ENST00000503434.1_Silent_p.I266I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	267					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGAAAGTCATCACTAAGCCCT	0.483			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(799-801)atC>atT		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							166.0	163.0	164.0					4																	25671434		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25671434C>T	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.801C>T	4.37:g.25671434C>T						SLC34A2_ENST00000504570.1_Silent_p.I266I|SLC34A2_ENST00000503434.1_Silent_p.I266I	p.I267I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			7	851	+		Breast(46;0.0503)	267					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.801C>T	CCDS3435.1																																																																																				0.483	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		74	41	0	0	0	0.014410	0	74	41				
MOB1B	92597	broad.mit.edu	37	4	71835700	71835700	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr4:71835700C>T	ENST00000309395.2	+	3	435	c.234C>T	c.(232-234)ttC>ttT	p.F78F	MOB1B_ENST00000396051.2_Silent_p.F83F|MOB1B_ENST00000511449.1_3'UTR	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	78					hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)										TCACAGACTTCTGTACAGAAG	0.338																																						ENST00000309395.2																			0											c.(232-234)ttC>ttT		MOB kinase activator 1B							83.0	83.0	83.0					4																	71835700		2203	4300	6503	SO:0001819	synonymous_variant	92597				hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding	g.chr4:71835700C>T	BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"""MOB kinase activators"""	29801	protein-coding gene	gene with protein product	"""Mob4A protein"""	609282	"""MOB1, Mps One Binder kinase activator-like 1A (yeast)"", ""MOB1 Mps One Binder homolog B (yeast)"""	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.234C>T	4.37:g.71835700C>T						MOB1B_ENST00000396051.2_Silent_p.F83F|MOB1B_ENST00000511449.1_3'UTR	p.F78F	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOL1A_HUMAN			3	435	+			78					B2R8U6|B4DRY3|Q8IY23	Silent	SNP	ENST00000309395.2	37	c.234C>T	CCDS34002.1																																																																																				0.338	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362634.1	NM_173468		3	29	0	0	0	0.004672	0	3	29				
NRN1L	123904	broad.mit.edu	37	16	67920047	67920047	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:67920047C>G	ENST00000339176.3	+	3	482	c.383C>G	c.(382-384)tCc>tGc	p.S128C	NRN1L_ENST00000576147.1_Missense_Mutation_p.P55A|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	128					nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GGCACAGGCTCCGAAACCAAC	0.667																																						ENST00000339176.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7						c.(382-384)tCc>tGc		neuritin 1-like							31.0	33.0	32.0					16																	67920047		2198	4300	6498	SO:0001583	missense	123904					anchored to membrane|plasma membrane		g.chr16:67920047C>G	AY358782	CCDS10850.1	16q22.1	2008-02-05			ENSG00000188038	ENSG00000188038			29811	protein-coding gene	gene with protein product						12975309	Standard	NM_198443		Approved	UNQ2446, MRCC2446	uc002euu.3	Q496H8	OTTHUMG00000137541	ENST00000339176.3:c.383C>G	16.37:g.67920047C>G	ENSP00000342411:p.Ser128Cys					CTC-479C5.10_ENST00000572067.1_RNA|NRN1L_ENST00000576147.1_Missense_Mutation_p.P55A	p.S128C	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)	3	482	+		Ovarian(137;0.192)	128					Q6UWH7	Missense_Mutation	SNP	ENST00000339176.3	37	c.383C>G	CCDS10850.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524551	0.64747	.	.	ENSG00000188038	ENST00000339176	.	.	.	4.86	2.57	0.30868	.	0.416553	0.23815	N	0.044291	T	0.28466	0.0704	N	0.22421	0.69	0.09310	N	1	D	0.53619	0.961	P	0.50378	0.639	T	0.06127	-1.0844	9	0.66056	D	0.02	.	4.9996	0.14257	0.2567:0.6357:0.0:0.1076	.	128	Q496H8	NRN1L_HUMAN	C	128	.	ENSP00000342411:S128C	S	+	2	0	NRN1L	66477548	0.000000	0.05858	0.065000	0.19835	0.119000	0.20118	0.829000	0.27449	1.176000	0.42840	0.462000	0.41574	TCC		0.667	NRN1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268872.2	NM_198443		4	17	0	0	0	0.001168	0	4	17				
KCNH2	3757	broad.mit.edu	37	7	150648119	150648119	+	Missense_Mutation	SNP	G	G	A	rs79624542		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:150648119G>A	ENST00000262186.5	-	8	2436	c.2035C>T	c.(2035-2037)Cgg>Tgg	p.R679W	KCNH2_ENST00000392968.2_Missense_Mutation_p.R583W|KCNH2_ENST00000430723.3_Missense_Mutation_p.R679W|KCNH2_ENST00000330883.4_Missense_Mutation_p.R339W	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	679					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TCCCGCACCCGCAGCATCTGT	0.632																																					GBM(137;110 1844 13671 20123 45161)	ENST00000392968.2																			0				NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1747-1749)Cgg>Tgg		potassium voltage-gated channel, subfamily H (eag-related), member 2	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)						87.0	72.0	77.0					7																	150648119		2203	4300	6503	SO:0001583	missense	3757				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	g.chr7:150648119G>A	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2035C>T	7.37:g.150648119G>A	ENSP00000262186:p.Arg679Trp					KCNH2_ENST00000262186.5_Missense_Mutation_p.R679W|KCNH2_ENST00000330883.4_Missense_Mutation_p.R339W|KCNH2_ENST00000430723.3_Missense_Mutation_p.R679W	p.R583W			Q12809	KCNH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	2867	-	all_neural(206;0.219)		679					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	37	c.1747C>T	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301170	0.81136	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1	4.36	4.36	0.52297	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98061	0.9361	M	0.86178	2.8	0.48696	D	0.999695	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.988;0.999;0.929;0.982;0.988	D	0.98994	1.0809	10	0.87932	D	0	.	14.7478	0.69501	0.0:0.0:1.0:0.0	.	583;679;339;679;339	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	W	339;583;679;339;679	ENSP00000328531:R339W;ENSP00000376695:R583W;ENSP00000262186:R679W;ENSP00000387657:R679W	ENSP00000262186:R679W	R	-	1	2	KCNH2	150279052	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	4.633000	0.61318	2.126000	0.65437	0.313000	0.20887	CGG		0.632	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238		27	32	0	0	0	0.006320	0	27	32				
LOC220729	220729	broad.mit.edu	37	3	197349060	197349060	+	RNA	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:197349060C>T	ENST00000418868.1	-	0	517					NR_003266.2																						CCCATCACCTCGACCATGGCA	0.582																																						ENST00000418868.1																			0																																																			220729							g.chr3:197349060C>T																													3.37:g.197349060C>T								NR_003266.2						0	517	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.582	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			29	32	0	0	0	0.003755	0	29	32				
PARP10	84875	broad.mit.edu	37	8	145052088	145052088	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:145052088G>C	ENST00000313028.7	-	10	2812	c.2718C>G	c.(2716-2718)ttC>ttG	p.F906L	PARP10_ENST00000525773.1_Missense_Mutation_p.F918L|PLEC_ENST00000527096.1_5'Flank|PARP10_ENST00000524918.1_Missense_Mutation_p.F897L|PLEC_ENST00000436759.2_5'Flank	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	906	Myc binding.|PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCGGCCGCAGAAGCTGCGGT	0.721																																						ENST00000313028.7																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(2716-2718)ttC>ttG		poly (ADP-ribose) polymerase family, member 10							14.0	14.0	14.0					8																	145052088		2134	4157	6291	SO:0001583	missense	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145052088G>C	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.2718C>G	8.37:g.145052088G>C	ENSP00000325618:p.Phe906Leu					PARP10_ENST00000524918.1_Missense_Mutation_p.F897L|PARP10_ENST00000525773.1_Missense_Mutation_p.F918L	p.F906L	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		10	2812	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		906			Myc binding.|PARP catalytic.		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.2718C>G	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137180	0.77775	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.12984	2.63;2.63;2.63	5.1	4.21	0.49690	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.120167	0.37906	N	0.001895	T	0.29491	0.0735	L	0.54323	1.7	0.80722	D	1	D;D	0.67145	0.996;0.988	P;D	0.68765	0.884;0.96	T	0.01215	-1.1416	10	0.54805	T	0.06	.	11.7735	0.51972	0.0878:0.0:0.9122:0.0	.	918;906	E9PNI7;Q53GL7	.;PAR10_HUMAN	L	897;612;906;918	ENSP00000431620:F897L;ENSP00000325618:F906L;ENSP00000434776:F918L	ENSP00000325618:F906L	F	-	3	2	PARP10	145124076	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.979000	0.40608	1.133000	0.42147	0.558000	0.71614	TTC		0.721	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		7	38	0	0	0	0.003080	0	7	38				
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C	rs551210093		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398																																						ENST00000558896.1																			0																																																			101927079							g.chr15:22332570T>C																													15.37:g.22332570T>C														0	377	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.398	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			4	239	0	0	0	0.009096	0	4	239				
NDUFV3	4731	broad.mit.edu	37	21	44324239	44324239	+	Intron	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr21:44324239G>C	ENST00000340344.4	+	3	235				NDUFV3_ENST00000354250.2_Missense_Mutation_p.D373H|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		AATCGTGGAAGATCAGATACC	0.572																																						ENST00000354250.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(1117-1119)Gat>Cat		NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NADH(DB00157)						73.0	66.0	69.0					21																	44324239		2203	4300	6503	SO:0001627	intron_variant	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44324239G>C		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-4735G>C	21.37:g.44324239G>C						NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Intron	p.D373H	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	3	1186	+			0					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	ENST00000340344.4	37	c.1117G>C	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.370328	0.42003	.	.	ENSG00000160194	ENST00000354250	.	.	.	4.13	3.21	0.36854	.	0.567892	0.15808	N	0.243603	T	0.25082	0.0609	L	0.32530	0.975	0.20074	N	0.999932	P	0.40066	0.701	B	0.33846	0.171	T	0.10019	-1.0648	9	0.66056	D	0.02	-4.3778	10.2001	0.43077	0.0:0.2039:0.7961:0.0	.	373	P56181-2	.	H	373	.	ENSP00000346196:D373H	D	+	1	0	NDUFV3	43197308	0.875000	0.30112	0.063000	0.19743	0.004000	0.04260	1.559000	0.36320	0.992000	0.38840	0.561000	0.74099	GAT		0.572	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			21	36	0	0	0	0.003330	0	21	36				
PTPMT1	114971	broad.mit.edu	37	11	47587500	47587500	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:47587500G>C	ENST00000326674.9	+	2	239	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000426530.2_Missense_Mutation_p.R109P|PTPMT1_ENST00000534775.1_Missense_Mutation_p.R109P|PTPMT1_ENST00000326656.8_Missense_Mutation_p.E73Q|NDUFS3_ENST00000533507.1_3'UTR	NM_175732.2	NP_783859.1	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	73					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|inositol phosphate dephosphorylation (GO:0046855)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylglycerophosphatase activity (GO:0008962)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						CACCATGAACGAGGAGTACGA	0.677																																						ENST00000534775.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						c.(325-327)cGa>cCa		protein tyrosine phosphatase, mitochondrial 1							35.0	39.0	38.0					11																	47587500		2068	4197	6265	SO:0001583	missense	114971				inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:47587500G>C	BC014048	CCDS41643.1, CCDS44593.1	11p11.2	2011-06-09			ENSG00000110536	ENSG00000110536	3.1.3.36	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	26965	protein-coding gene	gene with protein product		609538				12477932	Standard	NM_175732		Approved	PLIP, DUSP23, MOSP	uc001nfs.4	Q8WUK0	OTTHUMG00000166892	ENST00000326674.9:c.217G>C	11.37:g.47587500G>C	ENSP00000325958:p.Glu73Gln					PTPMT1_ENST00000326674.9_Missense_Mutation_p.E73Q|PTPMT1_ENST00000426530.2_Missense_Mutation_p.R109P|PTPMT1_ENST00000527079.2_3'UTR|NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000326656.8_Missense_Mutation_p.E73Q	p.R109P			Q8WUK0	PTPM1_HUMAN			1	491	+			0			Tyrosine-protein phosphatase.		E9PAT8|Q7Z557|Q96CR2|Q9BXV8	Missense_Mutation	SNP	ENST00000326674.9	37	c.326G>C	CCDS41643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.023047|4.023047	0.75275|0.75275	.|.	.|.	ENSG00000110536|ENSG00000110536	ENST00000326656;ENST00000326674|ENST00000426530;ENST00000534775	T;D|.	0.86164|.	1.77;-2.08|.	4.84|4.84	3.93|3.93	0.45458|0.45458	Dual specificity phosphatase, catalytic domain (1);|.	0.069461|.	0.53938|.	U|.	0.000045|.	T|T	0.78355|0.78355	0.4270|0.4270	M|M	0.79693|0.79693	2.465|2.465	0.53688|0.53688	D|D	0.999973|0.999973	D;D|D;D	0.76494|0.89917	0.997;0.999|1.0;1.0	D;D|D;D	0.67231|0.73380	0.95;0.95|0.98;0.98	T|T	0.81621|0.81621	-0.0850|-0.0850	10|8	0.62326|0.87932	D|D	0.03|0	-11.9305|-11.9305	13.0282|13.0282	0.58827|0.58827	0.0783:0.0:0.9217:0.0|0.0783:0.0:0.9217:0.0	.|.	73;73|109;109	Q8WUK0-2;Q8WUK0|E9PAT8;E9PQM0	.;PTPM1_HUMAN|.;.	Q|P	73|109	ENSP00000325882:E73Q;ENSP00000325958:E73Q|.	ENSP00000325882:E73Q|ENSP00000410272:R109P	E|R	+|+	1|2	0|0	PTPMT1|PTPMT1	47544076|47544076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	8.367000|8.367000	0.90113|0.90113	1.247000|1.247000	0.43917|0.43917	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.677	PTPMT1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391746.1	XM_374879		14	58	0	0	0	0.004990	0	14	58				
PRX	57716	broad.mit.edu	37	19	40902497	40902497	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:40902497G>C	ENST00000324001.7	-	7	2032	c.1762C>G	c.(1762-1764)Cca>Gca	p.P588A	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	588	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCACCTTTGGAAGCTTCATC	0.567																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1762-1764)Cca>Gca		periaxin							124.0	138.0	133.0					19																	40902497		2201	4298	6499	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902497G>C	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1762C>G	19.37:g.40902497G>C	ENSP00000326018:p.Pro588Ala					PRX_ENST00000291825.7_3'UTR	p.P588A	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2032	-			588			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1762C>G	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207814	0.39003	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02916	4.11	2.17	2.17	0.27698	.	.	.	.	.	T	0.05960	0.0155	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54105	-0.8343	9	0.32370	T	0.25	.	11.1127	0.48243	0.0:0.0:1.0:0.0	.	588	Q9BXM0	PRAX_HUMAN	A	588	ENSP00000326018:P588A	ENSP00000326018:P588A	P	-	1	0	PRX	45594337	0.004000	0.15560	0.633000	0.29310	0.598000	0.36846	1.194000	0.32174	1.047000	0.40274	0.461000	0.40582	CCA		0.567	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		90	198	0	0	0	0.014410	0	90	198				
NUFIP2	57532	broad.mit.edu	37	17	27613310	27613310	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:27613310C>G	ENST00000225388.4	-	2	1760	c.1702G>C	c.(1702-1704)Gag>Cag	p.E568Q	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	568						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GTCCGTTTCTCCAGCTCGTAA	0.463																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(1702-1704)Gag>Cag		nuclear fragile X mental retardation protein interacting protein 2							85.0	84.0	84.0					17																	27613310		2203	4300	6503	SO:0001583	missense	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27613310C>G	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.1702G>C	17.37:g.27613310C>G	ENSP00000225388:p.Glu568Gln					NUFIP2_ENST00000579665.1_Intron	p.E568Q	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	1760	-			568					A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.1702G>C	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.582287	0.46006	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.02	6.02	0.97574	.	0.128225	0.53938	D	0.000050	T	0.54271	0.1848	N	0.19112	0.55	0.80722	D	1	B	0.19073	0.033	B	0.24701	0.055	T	0.49570	-0.8926	9	0.62326	D	0.03	-3.4941	20.5407	0.99260	0.0:1.0:0.0:0.0	.	568	Q7Z417	NUFP2_HUMAN	Q	568	.	ENSP00000225388:E568Q	E	-	1	0	NUFIP2	24637436	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.429000	0.59901	2.865000	0.98341	0.655000	0.94253	GAG		0.463	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		12	84	0	0	0	0.013537	0	12	84				
LRIG1	26018	broad.mit.edu	37	3	66432706	66432706	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:66432706C>G	ENST00000273261.3	-	16	3132	c.2608G>C	c.(2608-2610)Gag>Cag	p.E870Q	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000383703.3_Missense_Mutation_p.E847Q	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	870					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CCATTGCTCTCAATGTGCCCA	0.567																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(2539-2541)Gag>Cag		leucine-rich repeats and immunoglobulin-like domains 1							138.0	139.0	139.0					3																	66432706		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66432706C>G	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2608G>C	3.37:g.66432706C>G	ENSP00000273261:p.Glu870Gln					SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.E870Q	p.E847Q			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	17	3142	-		Lung NSC(201;0.0101)	870					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.2539G>C	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878352	0.51801	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.65549	-0.15;-0.16	5.65	5.65	0.86999	.	0.284131	0.35067	N	0.003476	T	0.59702	0.2213	L	0.56769	1.78	0.41494	D	0.988248	B;B;B	0.29716	0.24;0.255;0.255	B;B;B	0.32211	0.142;0.046;0.04	T	0.56950	-0.7894	10	0.30078	T	0.28	.	14.5901	0.68359	0.0:0.7331:0.2669:0.0	.	847;870;870	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	Q	870;847;773	ENSP00000273261:E870Q;ENSP00000373208:E847Q	ENSP00000273261:E870Q	E	-	1	0	LRIG1	66515396	0.998000	0.40836	0.953000	0.39169	0.834000	0.47266	3.705000	0.54823	2.661000	0.90470	0.655000	0.94253	GAG		0.567	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		56	38	0	0	0	0.014410	0	56	38				
ANK3	288	broad.mit.edu	37	10	61822996	61822996	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr10:61822996C>T	ENST00000280772.2	-	40	12659	c.12468G>A	c.(12466-12468)tcG>tcA	p.S4156S	RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000503366.1_Silent_p.S1544S|ANK3_ENST00000373827.2_Silent_p.S1537S|ANK3_ENST00000355288.2_Silent_p.S677S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4156	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGTCAAGACCGAAGTTAAGG	0.348																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(12466-12468)tcG>tcA		ankyrin 3, node of Ranvier (ankyrin G)							60.0	57.0	58.0					10																	61822996		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61822996C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12468G>A	10.37:g.61822996C>T						ANK3_ENST00000373827.2_Silent_p.S1537S|ANK3_ENST00000355288.2_Silent_p.S677S|ANK3_ENST00000503366.1_Silent_p.S1544S	p.S4156S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			40	12659	-			4156			Death.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.12468G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	8.850	0.944316	0.18356	.	.	ENSG00000151150	ENST00000514197;ENST00000511043	.	.	.	5.38	-1.29	0.09288	.	.	.	.	.	T	0.39145	0.1067	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28744	-1.0034	4	.	.	.	.	0.7431	0.00977	0.3186:0.2275:0.1019:0.352	.	.	.	.	Q	50;103	.	.	R	-	2	0	ANK3	61493002	0.997000	0.39634	0.991000	0.47740	0.958000	0.62258	0.453000	0.21811	-0.107000	0.12088	0.467000	0.42956	CGG		0.348	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		12	15	0	0	0	0.001855	0	12	15				
S100A4	6275	broad.mit.edu	37	1	153516241	153516241	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:153516241C>G	ENST00000368716.4	-	3	447	c.300G>C	c.(298-300)aaG>aaC	p.K100N	S100A5_ENST00000368718.1_5'Flank|S100A4_ENST00000354332.4_Missense_Mutation_p.K100N|S100A5_ENST00000359215.1_5'Flank|S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368715.1_Missense_Mutation_p.K100N|S100A4_ENST00000368714.1_Missense_Mutation_p.K100N	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	100					epithelial to mesenchymal transition (GO:0001837)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Trifluoperazine(DB00831)	GTTTTCATTTCTTCCTGGGCT	0.527																																						ENST00000368716.4																			0				large_intestine(2)|lung(1)|prostate(1)	4						c.(298-300)aaG>aaC		S100 calcium binding protein A4							128.0	132.0	131.0					1																	153516241		2203	4300	6503	SO:0001583	missense	6275				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding	g.chr1:153516241C>G	BC016300	CCDS1042.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000196154	ENSG00000196154		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10494	protein-coding gene	gene with protein product	"""fibroblast-specific protein-1"""	114210	"""S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"", ""S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"""	MTS1, CAPL		3155863	Standard	NM_019554		Approved	P9KA, 18A2, PEL98, 42A, FSP1	uc001fbz.3	P26447	OTTHUMG00000013546	ENST00000368716.4:c.300G>C	1.37:g.153516241C>G	ENSP00000357705:p.Lys100Asn					S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368714.1_Missense_Mutation_p.K100N|S100A4_ENST00000368715.1_Missense_Mutation_p.K100N|S100A4_ENST00000354332.4_Missense_Mutation_p.K100N	p.K100N	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	447	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		100					A8K7R8|D3DV46|Q6ICP8	Missense_Mutation	SNP	ENST00000368716.4	37	c.300G>C	CCDS1042.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813672	0.50527	.	.	ENSG00000196154	ENST00000368715;ENST00000354332;ENST00000368716;ENST00000368714;ENST00000545360	T;T;T;T	0.04551	3.6;3.6;3.6;3.6	4.86	3.95	0.45737	EF-hand-like domain (1);	0.247697	0.29159	N	0.012964	T	0.01730	0.0055	N	0.08118	0	0.35362	D	0.788287	P	0.36392	0.551	P	0.44732	0.459	T	0.51411	-0.8709	10	0.72032	D	0.01	.	9.1422	0.36910	0.0:0.8987:0.0:0.1013	.	100	P26447	S10A4_HUMAN	N	100;100;100;100;89	ENSP00000357704:K100N;ENSP00000346294:K100N;ENSP00000357705:K100N;ENSP00000357703:K100N	ENSP00000346294:K100N	K	-	3	2	S100A4	151782865	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.975000	0.40569	1.061000	0.40601	0.561000	0.74099	AAG		0.527	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037714.1	NM_002961		85	274	0	0	0	0.014410	0	85	274				
GCC2	9648	broad.mit.edu	37	2	109103017	109103017	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:109103017G>A	ENST00000309863.6	+	16	4557	c.3843G>A	c.(3841-3843)ctG>ctA	p.L1281L		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1281					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACGAGCACCTGAAAACCTCTG	0.473																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(3841-3843)ctG>ctA		GRIP and coiled-coil domain containing 2							113.0	108.0	110.0					2																	109103017		2203	4300	6503	SO:0001819	synonymous_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109103017G>A	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3843G>A	2.37:g.109103017G>A							p.L1281L	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			16	4557	+			1281					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	37	c.3843G>A	CCDS33268.1																																																																																				0.473	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		50	79	0	0	0	0.014410	0	50	79				
ZHX3	23051	broad.mit.edu	37	20	39831571	39831571	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr20:39831571C>G	ENST00000309060.3	-	4	2401	c.1986G>C	c.(1984-1986)gaG>gaC	p.E662D	ZHX3_ENST00000544979.2_Missense_Mutation_p.E662D|ZHX3_ENST00000559234.1_Missense_Mutation_p.E662D|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.E662D|ZHX3_ENST00000432768.2_Missense_Mutation_p.E662D|ZHX3_ENST00000540170.1_Missense_Mutation_p.E662D			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	662					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TTTTCCGTCTCTCTGAAAACC	0.493																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1984-1986)gaG>gaC		zinc fingers and homeoboxes 3							154.0	163.0	160.0					20																	39831571		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39831571C>G	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1986G>C	20.37:g.39831571C>G	ENSP00000312222:p.Glu662Asp					ZHX3_ENST00000540170.1_Missense_Mutation_p.E662D|ZHX3_ENST00000432768.2_Missense_Mutation_p.E662D|ZHX3_ENST00000560361.1_Missense_Mutation_p.E662D|ZHX3_ENST00000559234.1_Missense_Mutation_p.E662D|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.E662D	p.E662D			Q9H4I2	ZHX3_HUMAN			4	2401	-		Myeloproliferative disorder(115;0.00425)	662					E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.1986G>C	CCDS13315.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.04|16.04	3.011125|3.011125	0.54361|0.54361	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262|ENST00000421422	D;D;D|D	0.96073|0.96104	-3.9;-3.9;-3.9|-3.91	6.06|6.06	4.11|4.11	0.48088|0.48088	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.048641|0.048641	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.92218|0.92218	0.7532|0.7532	N|N	0.21448|0.21448	0.665|0.665	0.44890|0.44890	D|D	0.997906|0.997906	D;D;D|.	0.89917|.	1.0;0.997;1.0|.	D;D;D|.	0.97110|.	1.0;0.991;0.999|.	D|D	0.89787|0.89787	0.3965|0.3965	10|8	0.45353|0.44086	T|T	0.12|0.13	-27.2545|-27.2545	10.0347|10.0347	0.42122|0.42122	0.0:0.7906:0.0:0.2094|0.0:0.7906:0.0:0.2094	.|.	662;662;662|.	A8K8Q0;Q9H4I2;F5H820|.	.;ZHX3_HUMAN;.|.	D|Q	662;662;662;662;440|371	ENSP00000362360:E662D;ENSP00000442290:E662D;ENSP00000443783:E662D|ENSP00000405421:E371Q	ENSP00000312222:E662D|ENSP00000405421:E371Q	E|E	-|-	3|1	2|0	ZHX3|ZHX3	39264985|39264985	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.456000|2.456000	0.44997|0.44997	0.870000|0.870000	0.35726|0.35726	0.650000|0.650000	0.86243|0.86243	GAG|GAG		0.493	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		103	182	0	0	0	0.014410	0	103	182				
ARPC1B	10095	broad.mit.edu	37	7	98988657	98988657	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:98988657G>A	ENST00000451682.1	+	8	951	c.642G>A	c.(640-642)ggG>ggA	p.G214G	ARPC1B_ENST00000252725.5_Silent_p.G214G|PDAP1_ENST00000496335.1_5'Flank			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	214					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CAGCCAGCGGGAGCCGCGTGG	0.632																																						ENST00000451682.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11						c.(640-642)ggG>ggA		actin related protein 2/3 complex, subunit 1B, 41kDa							37.0	35.0	36.0					7																	98988657		2203	4300	6503	SO:0001819	synonymous_variant	10095				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr7:98988657G>A	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.642G>A	7.37:g.98988657G>A						ARPC1B_ENST00000252725.5_Silent_p.G214G	p.G214G			O15143	ARC1B_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		8	951	+	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		214					Q9BU00	Silent	SNP	ENST00000451682.1	37	c.642G>A	CCDS5661.1																																																																																				0.632	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		16	47	0	0	0	0.004007	0	16	47				
CAPN12	147968	broad.mit.edu	37	19	39234625	39234625	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:39234625C>T	ENST00000328867.4	-	1	489	c.181G>A	c.(181-183)Gac>Aac	p.D61N	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	61	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCCAGCTGGTCATAGCCAAGG	0.627																																						ENST00000328867.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(181-183)Gac>Aac		calpain 12							73.0	59.0	63.0					19																	39234625		2203	4300	6503	SO:0001583	missense	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39234625C>T	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.181G>A	19.37:g.39234625C>T	ENSP00000331636:p.Asp61Asn					CAPN12_ENST00000601953.1_Intron	p.D61N	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		1	489	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		61			Calpain catalytic.			Missense_Mutation	SNP	ENST00000328867.4	37	c.181G>A	CCDS12519.1	.	.	.	.	.	.	.	.	.	.	c	11.49	1.652998	0.29336	.	.	ENSG00000182472	ENST00000328867	T	0.41400	1.0	4.74	4.74	0.60224	Peptidase C2, calpain, catalytic domain (3);	0.186551	0.46758	D	0.000273	T	0.24547	0.0595	N	0.13043	0.29	0.36489	D	0.868292	B	0.33171	0.4	B	0.34873	0.191	T	0.21690	-1.0238	10	0.25106	T	0.35	.	8.7845	0.34811	0.0:0.8988:0.0:0.1012	.	61	Q6ZSI9	CAN12_HUMAN	N	61	ENSP00000331636:D61N	ENSP00000331636:D61N	D	-	1	0	CAPN12	43926465	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	1.838000	0.39211	2.479000	0.83701	0.457000	0.33378	GAC		0.627	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1			22	36	0	0	0	0.012319	0	22	36				
WDR35	57539	broad.mit.edu	37	2	20113939	20113939	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:20113939G>A	ENST00000345530.3	-	27	3369	c.3254C>T	c.(3253-3255)tCa>tTa	p.S1085L	WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Missense_Mutation_p.S1074L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1085					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAAGCTTTTGAACAAGTCCC	0.433																																						ENST00000345530.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(3253-3255)tCa>tTa		WD repeat domain 35							91.0	92.0	92.0					2																	20113939		2203	4300	6503	SO:0001583	missense	57539							g.chr2:20113939G>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.3254C>T	2.37:g.20113939G>A	ENSP00000314444:p.Ser1085Leu					WDR35_ENST00000281405.4_Missense_Mutation_p.S1074L|WDR35_ENST00000416055.2_Intron	p.S1085L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN			27	3369	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1085					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.3254C>T	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341312	0.81911	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.76448	-1.02;-1.02	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.90438	0.7006	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91746	0.5408	10	0.62326	D	0.03	-12.4172	18.3561	0.90357	0.0:0.0:1.0:0.0	.	1074;1085	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	L	1085;1074	ENSP00000314444:S1085L;ENSP00000281405:S1074L	ENSP00000281405:S1074L	S	-	2	0	WDR35	19977420	1.000000	0.71417	0.982000	0.44146	0.349000	0.29174	9.420000	0.97426	2.654000	0.90174	0.655000	0.94253	TCA		0.433	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		30	53	0	0	0	0.009535	0	30	53				
TTC30A	92104	broad.mit.edu	37	2	178482268	178482268	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:178482268C>G	ENST00000355689.5	-	1	1426	c.1162G>C	c.(1162-1164)Gag>Cag	p.E388Q	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	388					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CGAAGCTGCTCAGTCAGCATC	0.463																																						ENST00000355689.4																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1162-1164)Gag>Cag		tetratricopeptide repeat domain 30A							197.0	196.0	197.0					2																	178482268		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178482268C>G	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1162G>C	2.37:g.178482268C>G	ENSP00000347915:p.Glu388Gln					AC073834.3_ENST00000357045.4_RNA	p.E388Q	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1426	-			388					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.1162G>C	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397962	0.25205	.	.	ENSG00000197557	ENST00000355689	T	0.21932	1.98	5.91	5.91	0.95273	.	0.088781	0.85682	D	0.000000	T	0.41050	0.1142	M	0.77486	2.375	0.80722	D	1	P	0.43938	0.822	P	0.48738	0.588	T	0.10543	-1.0625	10	0.46703	T	0.11	.	20.3829	0.98937	0.0:1.0:0.0:0.0	.	388	Q86WT1	TT30A_HUMAN	Q	388	ENSP00000347915:E388Q	ENSP00000347915:E388Q	E	-	1	0	TTC30A	178190514	1.000000	0.71417	0.999000	0.59377	0.098000	0.18820	5.399000	0.66314	2.823000	0.97156	0.644000	0.83932	GAG		0.463	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		99	122	0	0	0	0.014410	0	99	122				
HSD17B4	3295	broad.mit.edu	37	5	118865666	118865666	+	Silent	SNP	A	A	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:118865666A>C	ENST00000256216.6	+	21	1978	c.1845A>C	c.(1843-1845)acA>acC	p.T615T	HSD17B4_ENST00000515320.1_Silent_p.T597T|HSD17B4_ENST00000414835.2_Silent_p.T475T|HSD17B4_ENST00000509514.1_Silent_p.T353T|HSD17B4_ENST00000513628.1_Silent_p.T478T|HSD17B4_ENST00000504811.1_Silent_p.T640T|HSD17B4_ENST00000510025.1_Silent_p.T591T|HSD17B4_ENST00000522415.1_3'UTR	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	615	Enoyl-CoA hydratase 2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		CAGCTAAGACACCCTCTGAGG	0.378																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.(1918-1920)acA>acC		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						91.0	85.0	87.0					5																	118865666		2202	4300	6502	SO:0001819	synonymous_variant	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118865666A>C		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1845A>C	5.37:g.118865666A>C						HSD17B4_ENST00000509514.1_Silent_p.T353T|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000414835.2_Silent_p.T475T|HSD17B4_ENST00000515320.1_Silent_p.T597T|HSD17B4_ENST00000256216.6_Silent_p.T615T|HSD17B4_ENST00000510025.1_Silent_p.T591T|HSD17B4_ENST00000513628.1_Silent_p.T478T	p.T640T	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	22	2104	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	615			SCP2.		B4DNV1|B4DVS5|E9PB82|F5HE57	Silent	SNP	ENST00000256216.6	37	c.1920A>C	CCDS4126.1																																																																																				0.378	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		5	65	0	0	0	0.010729	0	5	65				
CHRNA9	55584	broad.mit.edu	37	4	40356015	40356015	+	Silent	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr4:40356015G>C	ENST00000310169.2	+	5	1057	c.918G>C	c.(916-918)acG>acC	p.T306T		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	306					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Galantamine(DB00674)|Nicotine(DB00184)	ACATAGCCACGATGGCCCTGA	0.502																																					Esophageal Squamous(115;1297 1602 22235 25158 43327)	ENST00000310169.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33						c.(916-918)acG>acC		cholinergic receptor, nicotinic, alpha 9 (neuronal)	Nicotine(DB00184)						106.0	110.0	109.0					4																	40356015		2203	4300	6503	SO:0001819	synonymous_variant	55584				elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	g.chr4:40356015G>C	AF227732	CCDS3459.1	4p14	2012-02-11	2012-02-07		ENSG00000174343	ENSG00000174343		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	14079	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 9 (neuronal)"""	605116	"""cholinergic receptor, nicotinic, alpha polypeptide 9"""				Standard	NM_017581		Approved	NACHRA9	uc003gva.2	Q9UGM1	OTTHUMG00000099375	ENST00000310169.2:c.918G>C	4.37:g.40356015G>C							p.T306T	NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN			5	1057	+			306					Q14CY7|Q4W5A2|Q9NYV2	Silent	SNP	ENST00000310169.2	37	c.918G>C	CCDS3459.1																																																																																				0.502	CHRNA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216822.1			56	216	0	0	0	0.014410	0	56	216				
KYNU	8942	broad.mit.edu	37	2	143797996	143797996	+	Splice_Site	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:143797996G>A	ENST00000264170.4	+	13	1299		c.e13-1		KYNU_ENST00000409512.1_Splice_Site	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TCATTCCACAGATCTTTAAGC	0.333																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.e13-1		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						65.0	65.0	65.0					2																	143797996		2203	4300	6503	SO:0001630	splice_region_variant	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143797996G>A	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.1042-1G>A	2.37:g.143797996G>A						KYNU_ENST00000409512.1_Splice_Site		NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	13	1299	+									Splice_Site	SNP	ENST00000264170.4	37		CCDS2183.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843611	0.51164	.	.	ENSG00000115919	ENST00000264170;ENST00000409512	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0782	0.97758	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KYNU	143514466	1.000000	0.71417	0.997000	0.53966	0.282000	0.26991	9.167000	0.94773	2.746000	0.94184	0.655000	0.94253	.		0.333	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998	Intron	21	50	0	0	0	0.004656	0	21	50				
ZNF836	162962	broad.mit.edu	37	19	52659059	52659059	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:52659059G>C	ENST00000322146.8	-	5	2398	c.1877C>G	c.(1876-1878)tCa>tGa	p.S626*	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Nonsense_Mutation_p.S626*	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	626					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTTATGATTTGAAAGGTTTCC	0.408																																						ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1876-1878)tCa>tGa		zinc finger protein 836							118.0	128.0	125.0					19																	52659059		2118	4264	6382	SO:0001587	stop_gained	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52659059G>C	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1877C>G	19.37:g.52659059G>C	ENSP00000325038:p.Ser626*					CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Nonsense_Mutation_p.S626*	p.S626*	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			5	2398	-			626						Nonsense_Mutation	SNP	ENST00000322146.8	37	c.1877C>G	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	g	37	6.621336	0.97714	.	.	ENSG00000196267	ENST00000322146	.	.	.	2.09	-4.17	0.03857	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	1.6094	0.02690	0.1721:0.291:0.3794:0.1575	.	.	.	.	X	626	.	ENSP00000325038:S626X	S	-	2	0	ZNF836	57350871	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-3.429000	0.00474	-1.056000	0.03205	0.484000	0.47621	TCA		0.408	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		77	141	0	0	0	0.014410	0	77	141				
EPHB3	2049	broad.mit.edu	37	3	184295229	184295229	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:184295229G>C	ENST00000330394.2	+	6	1905	c.1453G>C	c.(1453-1455)Gac>Cac	p.D485H	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	485	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGTCATCCTGGACTACGAGAT	0.602																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1453-1455)Gac>Cac		EPH receptor B3							54.0	58.0	56.0					3																	184295229		2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184295229G>C	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1453G>C	3.37:g.184295229G>C	ENSP00000332118:p.Asp485His					EIF2B5_ENST00000444495.1_Intron	p.D485H	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		6	1905	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		485			Fibronectin type-III 2.		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.1453G>C	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175624	0.78564	.	.	ENSG00000182580	ENST00000330394	T	0.56776	0.44	5.3	5.3	0.74995	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67869	0.2939	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.69866	-0.5029	10	0.87932	D	0	.	18.3091	0.90193	0.0:0.0:1.0:0.0	.	485	P54753	EPHB3_HUMAN	H	485	ENSP00000332118:D485H	ENSP00000332118:D485H	D	+	1	0	EPHB3	185777923	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	9.808000	0.99193	2.649000	0.89929	0.448000	0.29417	GAC		0.602	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		3	130	0	0	0	0.004672	0	3	130				
SYNE2	23224	broad.mit.edu	37	14	64476717	64476717	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:64476717A>T	ENST00000344113.4	+	32	4823	c.4611A>T	c.(4609-4611)ttA>ttT	p.L1537F	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1537F|SYNE2_ENST00000358025.3_Missense_Mutation_p.L1537F	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1537					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGAGCTCTTAAAACAATATC	0.353																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(4609-4611)ttA>ttT		spectrin repeat containing, nuclear envelope 2							58.0	56.0	57.0					14																	64476717		1808	4067	5875	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64476717A>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.4611A>T	14.37:g.64476717A>T	ENSP00000341781:p.Leu1537Phe					SYNE2_ENST00000344113.4_Missense_Mutation_p.L1537F|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1537F|SYNE2_ENST00000357395.3_5'UTR	p.L1537F	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	32	4841	+			1537					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.4611A>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.042654	0.55003	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.35236	1.32;1.32;1.32	6.08	-2.08	0.07254	.	0.000000	0.44902	D	0.000413	T	0.49813	0.1579	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.45963	-0.9225	10	0.39692	T	0.17	.	13.1631	0.59554	0.3614:0.0:0.6386:0.0	.	1537;1537	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	F	1537	ENSP00000350719:L1537F;ENSP00000341781:L1537F;ENSP00000452570:L1537F	ENSP00000261678:L1537F	L	+	3	2	SYNE2	63546470	1.000000	0.71417	0.982000	0.44146	0.961000	0.63080	0.985000	0.29578	-0.242000	0.09667	0.482000	0.46254	TTA		0.353	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		18	32	0	0	0	0.008871	0	18	32				
ARMC4	55130	broad.mit.edu	37	10	28151401	28151401	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr10:28151401G>A	ENST00000305242.5	-	18	2853	c.2761C>T	c.(2761-2763)Cat>Tat	p.H921Y	ARMC4_ENST00000545014.1_Missense_Mutation_p.H446Y|ARMC4_ENST00000537576.1_Missense_Mutation_p.H613Y	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	921					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACAACTCCATGATCTGTGATA	0.348																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(2761-2763)Cat>Tat		armadillo repeat containing 4							181.0	160.0	167.0					10																	28151401		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28151401G>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2761C>T	10.37:g.28151401G>A	ENSP00000306410:p.His921Tyr					ARMC4_ENST00000545014.1_Missense_Mutation_p.H446Y|ARMC4_ENST00000537576.1_Missense_Mutation_p.H613Y	p.H921Y	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			18	2853	-			921					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.2761C>T	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.337575	0.41398	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;T	0.93763	-3.28;-3.28;-0.1	5.9	5.0	0.66597	Armadillo-like helical (1);Armadillo-type fold (1);	0.193763	0.53938	D	0.000041	D	0.92792	0.7708	M	0.64997	1.995	0.80722	D	1	B;P	0.42010	0.049;0.768	B;B	0.43386	0.027;0.418	D	0.92436	0.5958	10	0.49607	T	0.09	-18.9184	15.1265	0.72486	0.0674:0.0:0.9326:0.0	.	446;921	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	Y	613;921;446	ENSP00000443208:H613Y;ENSP00000306410:H921Y;ENSP00000441076:H446Y	ENSP00000306410:H921Y	H	-	1	0	ARMC4	28191407	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.777000	0.62361	1.505000	0.48720	0.650000	0.86243	CAT		0.348	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		50	90	0	0	0	0.014410	0	50	90				
SRSF6	6431	broad.mit.edu	37	20	42086714	42086714	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr20:42086714G>C	ENST00000244020.3	+	1	147	c.41G>C	c.(40-42)cGg>cCg	p.R14P		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	14	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TACAACGTCCGGGAGAAGGAC	0.647																																						ENST00000244020.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						c.(40-42)cGg>cCg		serine/arginine-rich splicing factor 6							43.0	47.0	46.0					20																	42086714		2203	4300	6503	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42086714G>C	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.41G>C	20.37:g.42086714G>C	ENSP00000244020:p.Arg14Pro						p.R14P	NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN			1	147	+			14			RRM 1.		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.41G>C	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926023	0.92319	.	.	ENSG00000124193	ENST00000244020	T	0.74526	-0.85	4.08	4.08	0.47627	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	D	0.86633	0.1887	10	0.87932	D	0	.	15.2094	0.73206	0.0:0.0:1.0:0.0	.	14;14	Q13247;A8K588	SRSF6_HUMAN;.	P	14	ENSP00000244020:R14P	ENSP00000244020:R14P	R	+	2	0	SRSF6	41520128	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.092000	0.76930	2.078000	0.62432	0.655000	0.94253	CGG		0.647	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		27	39	0	0	0	0.007291	0	27	39				
ESRP1	54845	broad.mit.edu	37	8	95653588	95653588	+	Silent	SNP	C	C	T	rs369835294		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:95653588C>T	ENST00000433389.2	+	1	232	c.42C>T	c.(40-42)atC>atT	p.I14I	ESRP1_ENST00000454170.2_Silent_p.I14I|ESRP1_ENST00000423620.2_Silent_p.I14I|ESRP1_ENST00000358397.5_Silent_p.I14I|RP11-22C11.2_ENST00000562760.1_RNA	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	14					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TTTTTGGGATCACTGCTGGGG	0.587																																						ENST00000433389.2																		ESRP1/RAF1(4)	0				NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(40-42)atC>atT		epithelial splicing regulatory protein 1		C	,,,,	1,3753		0,1,1876	55.0	55.0	55.0		42,42,42,42,42	3.2	1.0	8		55	0,8200		0,0,4100	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ESRP1	NM_001034915.2,NM_001122825.1,NM_001122826.1,NM_001122827.1,NM_017697.3	,,,,	0,1,5976	TT,TC,CC		0.0,0.0266,0.0084	,,,,	14/678,14/609,14/660,14/605,14/682	95653588	1,11953	1877	4100	5977	SO:0001819	synonymous_variant	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95653588C>T	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.42C>T	8.37:g.95653588C>T						ESRP1_ENST00000423620.2_Silent_p.I14I|ESRP1_ENST00000358397.5_Silent_p.I14I|ESRP1_ENST00000454170.2_Silent_p.I14I	p.I14I	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN			1	232	+			14					A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Silent	SNP	ENST00000433389.2	37	c.42C>T	CCDS47897.1																																																																																				0.587	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		10	88	0	0	0	0.006214	0	10	88				
TSHZ2	128553	broad.mit.edu	37	20	51871400	51871400	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr20:51871400G>C	ENST00000371497.5	+	2	2290	c.1403G>C	c.(1402-1404)aGg>aCg	p.R468T	TSHZ2_ENST00000329613.6_Missense_Mutation_p.R465T|TSHZ2_ENST00000603338.2_Missense_Mutation_p.R465T|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	468					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAAAAGAAAGGCCAGAGGAA	0.423																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(1402-1404)aGg>aCg		teashirt zinc finger homeobox 2							91.0	99.0	97.0					20																	51871400		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871400G>C	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1403G>C	20.37:g.51871400G>C	ENSP00000360552:p.Arg468Thr					TSHZ2_ENST00000603338.2_Missense_Mutation_p.R465T|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R465T	p.R468T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2290	+			468					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1403G>C	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	0.063	-1.219488	0.01542	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.29917	1.55;1.55	5.95	3.74	0.42951	.	0.403482	0.30060	N	0.010520	T	0.13628	0.0330	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18147	-1.0346	10	0.51188	T	0.08	-13.8705	8.536	0.33364	0.8373:0.0:0.1627:0.0	.	468	Q9NRE2	TSH2_HUMAN	T	468;465	ENSP00000360552:R468T;ENSP00000333114:R465T	ENSP00000333114:R465T	R	+	2	0	TSHZ2	51304807	0.115000	0.22152	0.011000	0.14972	0.098000	0.18820	1.257000	0.32932	0.541000	0.28827	0.643000	0.83706	AGG		0.423	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		56	96	0	0	0	0.014410	0	56	96				
DHX16	8449	broad.mit.edu	37	6	30624384	30624384	+	Silent	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:30624384G>C	ENST00000376442.3	-	14	2496	c.2301C>G	c.(2299-2301)ctC>ctG	p.L767L	DHX16_ENST00000376437.5_Silent_p.L286L|DHX16_ENST00000480966.1_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	767	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						CTAAGCTCTTGAGCAGCAACA	0.557																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(2299-2301)ctC>ctG		DEAH (Asp-Glu-Ala-His) box polypeptide 16							168.0	152.0	158.0					6																	30624384		1511	2709	4220	SO:0001819	synonymous_variant	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30624384G>C	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.2301C>G	6.37:g.30624384G>C						DHX16_ENST00000376437.5_Silent_p.L286L	p.L767L	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			14	2496	-			767			Helicase C-terminal.		O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	ENST00000376442.3	37	c.2301C>G	CCDS4685.1																																																																																				0.557	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		73	102	0	0	0	0.014410	0	73	102				
DCBLD2	131566	broad.mit.edu	37	3	98518387	98518387	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:98518387G>A	ENST00000326840.6	-	16	2519	c.2157C>T	c.(2155-2157)ctC>ctT	p.L719L	DCBLD2_ENST00000326857.9_Silent_p.L733L	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	719					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CAGTCCTGGAGAGAAGTGTAT	0.572																																						ENST00000326840.6																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						c.(2155-2157)ctC>ctT		discoidin, CUB and LCCL domain containing 2							184.0	185.0	185.0					3																	98518387		1967	4160	6127	SO:0001819	synonymous_variant	131566				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		g.chr3:98518387G>A		CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.2157C>T	3.37:g.98518387G>A						DCBLD2_ENST00000326857.9_Silent_p.L733L	p.L719L	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN			16	2519	-			719					B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Silent	SNP	ENST00000326840.6	37	c.2157C>T	CCDS46878.1																																																																																				0.572	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324675.2	NM_080927		67	253	0	0	0	0.014410	0	67	253				
TRPV1	7442	broad.mit.edu	37	17	3495440	3495440	+	Missense_Mutation	SNP	C	C	G	rs199766861		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:3495440C>G	ENST00000571088.1	-	2	418	c.205G>C	c.(205-207)Gag>Cag	p.E69Q	TRPV1_ENST00000399759.3_Missense_Mutation_p.E69Q|TRPV1_ENST00000576351.1_Missense_Mutation_p.E69Q|TRPV1_ENST00000425167.2_Missense_Mutation_p.E69Q|SHPK_ENST00000572705.1_Missense_Mutation_p.E69Q|TRPV1_ENST00000310522.5_Missense_Mutation_p.E69Q|TRPV1_ENST00000174621.6_Silent_p.V43V|TRPV1_ENST00000399756.4_Missense_Mutation_p.E69Q	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	69					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GAGTCCAGCTCACCTTCCTCG	0.652																																					Melanoma(38;962 1762 15789)	ENST00000572705.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(205-207)Gag>Cag		sedoheptulokinase							34.0	38.0	37.0					17																	3495440		2053	4203	6256	SO:0001583	missense	23729				carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	g.chr17:3495440C>G	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.205G>C	17.37:g.3495440C>G	ENSP00000461007:p.Glu69Gln					TRPV1_ENST00000399759.3_Missense_Mutation_p.E69Q|TRPV1_ENST00000425167.2_Missense_Mutation_p.E69Q|TRPV1_ENST00000576351.1_Missense_Mutation_p.E69Q|TRPV1_ENST00000174621.6_Silent_p.V43V|TRPV1_ENST00000399756.4_Missense_Mutation_p.E69Q|TRPV1_ENST00000571088.1_Missense_Mutation_p.E69Q|TRPV1_ENST00000310522.5_Missense_Mutation_p.E69Q	p.E69Q	NM_080704.3	NP_542435.2	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)	3	479	-			0					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	c.205G>C	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	C	2.769	-0.256017	0.05829	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000425167;ENST00000310522	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.15	1.94	0.25998	.	0.898798	0.09911	N	0.739775	T	0.16428	0.0395	N	0.15975	0.35	0.09310	N	1	B;B;B	0.11235	0.0;0.004;0.002	B;B;B	0.08055	0.002;0.002;0.003	T	0.33929	-0.9849	10	0.17369	T	0.5	-9.8342	7.6609	0.28402	0.0:0.513:0.387:0.1	.	69;69;69	Q8NER1;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.	Q	69	ENSP00000382661:E69Q;ENSP00000382659:E69Q;ENSP00000409627:E69Q;ENSP00000311692:E69Q	ENSP00000311692:E69Q	E	-	1	0	TRPV1	3442189	0.000000	0.05858	0.007000	0.13788	0.222000	0.24845	-0.064000	0.11636	0.236000	0.21180	0.650000	0.86243	GAG		0.652	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		13	25	0	0	0	0.002450	0	13	25				
SEC24A	10802	broad.mit.edu	37	5	134060674	134060674	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:134060674G>A	ENST00000398844.2	+	23	3460	c.3172G>A	c.(3172-3174)Gag>Aag	p.E1058K		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	1058					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTAAGGGATGAGAGTCCAAT	0.318																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(3172-3174)Gag>Aag		SEC24 family member A							59.0	55.0	56.0					5																	134060674		1804	4066	5870	SO:0001583	missense	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134060674G>A	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.3172G>A	5.37:g.134060674G>A	ENSP00000381823:p.Glu1058Lys						p.E1058K	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		23	3460	+			1058					A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	c.3172G>A	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049978	0.75846	.	.	ENSG00000113615	ENST00000398844	T	0.29917	1.55	5.68	5.68	0.88126	.	0.045285	0.85682	D	0.000000	T	0.27832	0.0685	L	0.54323	1.7	0.80722	D	1	B;B	0.33103	0.039;0.397	B;B	0.21360	0.01;0.034	T	0.11991	-1.0565	10	0.09843	T	0.71	-12.469	19.7905	0.96454	0.0:0.0:1.0:0.0	.	822;1058	B4E205;O95486	.;SC24A_HUMAN	K	1058	ENSP00000381823:E1058K	ENSP00000381823:E1058K	E	+	1	0	SEC24A	134088573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.691000	0.91804	0.650000	0.86243	GAG		0.318	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			23	43	0	0	0	0.002780	0	23	43				
GPR126	57211	broad.mit.edu	37	6	142689043	142689043	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:142689043C>G	ENST00000230173.6	+	3	917	c.441C>G	c.(439-441)atC>atG	p.I147M	GPR126_ENST00000367609.3_Missense_Mutation_p.I147M|GPR126_ENST00000296932.8_Missense_Mutation_p.I147M|GPR126_ENST00000367608.2_Missense_Mutation_p.I147M|GPR126_ENST00000545477.1_3'UTR	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	147	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CCAGCTACATCAGAGGTATGT	0.408																																						ENST00000230173.6																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(439-441)atC>atG		G protein-coupled receptor 126							65.0	61.0	63.0					6																	142689043		1895	4114	6009	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142689043C>G	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.441C>G	6.37:g.142689043C>G	ENSP00000230173:p.Ile147Met					GPR126_ENST00000367608.2_Missense_Mutation_p.I147M|GPR126_ENST00000367609.3_Missense_Mutation_p.I147M|GPR126_ENST00000296932.8_Missense_Mutation_p.I147M|GPR126_ENST00000545477.1_3'UTR	p.I147M	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	3	917	+	Breast(32;0.176)		147			CUB.		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.441C>G	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759734	0.49468	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609;ENST00000541199	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.38	3.44	0.39384	CUB (3);	0.452640	0.20830	N	0.084903	T	0.10895	0.0266	N	0.16833	0.445	0.22142	N	0.99933	P;P;P;P;P	0.41569	0.483;0.483;0.704;0.579;0.755	P;P;P;B;B	0.44518	0.452;0.452;0.452;0.264;0.366	T	0.04255	-1.0965	10	0.62326	D	0.03	.	9.8736	0.41189	0.214:0.451:0.3349:0.0	.	147;147;147;147;146	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4;F5H2L1	.;.;.;GP126_HUMAN;.	M	147;147;147;147;146	ENSP00000230173:I147M;ENSP00000356580:I147M;ENSP00000296932:I147M;ENSP00000356581:I147M;ENSP00000446287:I146M	ENSP00000230173:I147M	I	+	3	3	GPR126	142730736	0.992000	0.36948	1.000000	0.80357	0.984000	0.73092	0.299000	0.19138	1.222000	0.43521	0.650000	0.86243	ATC		0.408	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			17	33	0	0	0	0.008871	0	17	33				
FAM46C	54855	broad.mit.edu	37	1	118165574	118165574	+	Silent	SNP	C	C	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:118165574C>A	ENST00000369448.3	+	2	331	c.84C>A	c.(82-84)gtC>gtA	p.V28V		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	28										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		TGCATGAGGTCCTCACTGAAG	0.557			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)																												ENST00000369448.3				Rec	yes		1	1p12	54855	"""Mis, F, O"""	"""family with sequence similarity 46, member C"""			L			MM		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(82-84)gtC>gtA		family with sequence similarity 46, member C							103.0	88.0	93.0					1																	118165574		2203	4300	6503	SO:0001819	synonymous_variant	54855							g.chr1:118165574C>A	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.84C>A	1.37:g.118165574C>A		Multiple Myeloma(3;1.13e-06)					p.V28V	NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	2	331	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	28					A3KMG2|Q8NE25|Q9NXK0	Silent	SNP	ENST00000369448.3	37	c.84C>A	CCDS896.1																																																																																				0.557	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		14	64	1	0	1.49906e-05	0.002450	1.53612e-05	14	64				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	53	0	0	0	0.000602	0	4	53				
GRIA2	2891	broad.mit.edu	37	4	158254442	158254442	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr4:158254442G>C	ENST00000264426.9	+	8	1371	c.1092G>C	c.(1090-1092)caG>caC	p.Q364H	GRIA2_ENST00000449365.1_Missense_Mutation_p.Q317H|GRIA2_ENST00000296526.7_Missense_Mutation_p.Q364H|GRIA2_ENST00000507898.1_Missense_Mutation_p.Q317H|GRIA2_ENST00000393815.2_Missense_Mutation_p.Q317H	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	364					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AGTTTGACCAGAATGGAAAAA	0.358																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1090-1092)caG>caC		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						58.0	62.0	61.0					4																	158254442		2203	4299	6502	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158254442G>C		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1092G>C	4.37:g.158254442G>C	ENSP00000264426:p.Gln364His					GRIA2_ENST00000449365.1_Missense_Mutation_p.Q317H|GRIA2_ENST00000393815.2_Missense_Mutation_p.Q317H|GRIA2_ENST00000507898.1_Missense_Mutation_p.Q317H|GRIA2_ENST00000264426.9_Missense_Mutation_p.Q364H	p.Q364H	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	8	1417	+	all_hematologic(180;0.24)	Renal(120;0.0458)	364					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.1092G>C	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803981	0.31869	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.42	4.58	0.56647	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.80444	0.4624	N	0.12182	0.205	0.58432	D	0.999999	B;P;D	0.61080	0.057;0.939;0.989	B;B;D	0.72075	0.009;0.415;0.976	T	0.75169	-0.3412	10	0.07990	T	0.79	.	14.2421	0.65963	0.0722:0.0:0.9278:0.0	.	364;364;317	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	H	317;317;364;364;317	ENSP00000426845:Q317H;ENSP00000377403:Q317H;ENSP00000296526:Q364H;ENSP00000264426:Q364H;ENSP00000389837:Q317H	ENSP00000264426:Q364H	Q	+	3	2	GRIA2	158473892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.238000	0.51352	1.277000	0.44412	0.650000	0.86243	CAG		0.358	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			23	19	0	0	0	0.004656	0	23	19				
CHST13	166012	broad.mit.edu	37	3	126260987	126260987	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:126260987A>T	ENST00000319340.2	+	3	642	c.592A>T	c.(592-594)Agg>Tgg	p.R198W		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	198					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CGCCTTCCAGAGGCGCTACGG	0.726																																						ENST00000319340.2																			0				central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(592-594)Agg>Tgg		carbohydrate (chondroitin 4) sulfotransferase 13							7.0	7.0	7.0					3																	126260987		2067	4017	6084	SO:0001583	missense	166012				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr3:126260987A>T	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.592A>T	3.37:g.126260987A>T	ENSP00000317404:p.Arg198Trp						p.R198W	NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	3	642	+			198					Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	37	c.592A>T	CCDS3039.1	.	.	.	.	.	.	.	.	.	.	A	18.59	3.656276	0.67586	.	.	ENSG00000180767	ENST00000319340	T	0.74632	-0.86	4.57	-2.31	0.06765	.	0.064020	0.64402	U	0.000012	T	0.81645	0.4866	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.79607	-0.1733	10	0.72032	D	0.01	-12.2103	8.7049	0.34349	0.7118:0.1949:0.0:0.0933	.	198	Q8NET6	CHSTD_HUMAN	W	198	ENSP00000317404:R198W	ENSP00000317404:R198W	R	+	1	2	CHST13	127743677	1.000000	0.71417	0.835000	0.33067	0.545000	0.35147	1.729000	0.38115	-0.284000	0.09102	0.260000	0.18958	AGG		0.726	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		9	11	0	0	0	0.010729	0	9	11				
BCHE	590	broad.mit.edu	37	3	165548470	165548470	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:165548470C>T	ENST00000264381.3	-	2	518	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	118					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AAACAGTCTTCACTGAGGTCA	0.388																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(352-354)Gaa>Aaa		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						77.0	82.0	80.0					3																	165548470		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548470C>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.352G>A	3.37:g.165548470C>T	ENSP00000264381:p.Glu118Lys					BCHE_ENST00000540653.1_Intron	p.E118K	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			2	518	-			118					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.352G>A	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744362	0.89663	.	.	ENSG00000114200	ENST00000264381	D	0.86956	-2.19	5.69	5.69	0.88448	Carboxylesterase type B, conserved site (1);Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.96895	0.8986	H	0.99573	4.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98541	1.0632	10	0.87932	D	0	.	18.7962	0.91995	0.0:1.0:0.0:0.0	.	118	P06276	CHLE_HUMAN	K	118	ENSP00000264381:E118K	ENSP00000264381:E118K	E	-	1	0	BCHE	167031164	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.687000	0.84139	2.671000	0.90904	0.655000	0.94253	GAA		0.388	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			23	64	0	0	0	0.002780	0	23	64				
IL36B	27177	broad.mit.edu	37	2	113780314	113780314	+	Silent	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:113780314G>C	ENST00000259213.4	-	6	539	c.432C>G	c.(430-432)ctC>ctG	p.L144L		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	144					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						CCTTCTTCCTGAGATGGTGAT	0.438																																						ENST00000259213.4																			0				kidney(1)|ovary(1)|pancreas(1)	3						c.(430-432)ctC>ctG		interleukin 36, beta							205.0	187.0	193.0					2																	113780314		2203	4300	6503	SO:0001819	synonymous_variant	27177				immune response	extracellular space	cytokine activity|interleukin-1 receptor binding	g.chr2:113780314G>C	AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"""Interleukins and interleukin receptors"""	15564	protein-coding gene	gene with protein product		605508	"""interleukin 1 family, member 8 (eta)"""	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.432C>G	2.37:g.113780314G>C							p.L144L	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN			6	539	-			144					Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Silent	SNP	ENST00000259213.4	37	c.432C>G	CCDS2109.1																																																																																				0.438	IL36B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254110.1	NM_014438		51	68	0	0	0	0.014410	0	51	68				
NPR1	4881	broad.mit.edu	37	1	153665640	153665640	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:153665640C>G	ENST00000368680.3	+	21	3562	c.3090C>G	c.(3088-3090)ttC>ttG	p.F1030L		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	1030					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TTGGTGGTTTCGAGCTGGAGC	0.552																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(3088-3090)ttC>ttG		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						120.0	110.0	113.0					1																	153665640		2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153665640C>G	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.3090C>G	1.37:g.153665640C>G	ENSP00000357669:p.Phe1030Leu						p.F1030L	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		21	3562	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1030					B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.3090C>G	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302378	0.81136	.	.	ENSG00000169418	ENST00000368680;ENST00000428723;ENST00000368677	D	0.82619	-1.63	4.32	-8.65	0.00870	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.86151	0.5864	M	0.85777	2.775	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91066	0.4889	10	0.87932	D	0	.	14.9601	0.71151	0.0:0.6466:0.0:0.3534	.	509;1030	B7Z4Y7;P16066	.;ANPRA_HUMAN	L	1030;509;211	ENSP00000357669:F1030L	ENSP00000357666:F211L	F	+	3	2	NPR1	151932264	0.013000	0.17824	0.826000	0.32828	0.986000	0.74619	-1.024000	0.03603	-1.677000	0.01455	-0.459000	0.05422	TTC		0.552	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		41	112	0	0	0	0.014410	0	41	112				
MYBPH	4608	broad.mit.edu	37	1	203144777	203144777	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:203144777G>C	ENST00000255416.4	-	1	164	c.107C>G	c.(106-108)tCa>tGa	p.S36*		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	36					cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGTGGACTCTGATACTGCCAC	0.622																																					NSCLC(32;174 1025 14462 23899 42933)	ENST00000255416.4																			0				endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20						c.(106-108)tCa>tGa		myosin binding protein H							100.0	116.0	111.0					1																	203144777		2203	4300	6503	SO:0001587	stop_gained	4608				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	g.chr1:203144777G>C	BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7552	protein-coding gene	gene with protein product		160795	"""myosin-binding protein H"""			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.107C>G	1.37:g.203144777G>C	ENSP00000255416:p.Ser36*						p.S36*	NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)	1	164	-			36					Q16886|Q86YC5	Nonsense_Mutation	SNP	ENST00000255416.4	37	c.107C>G	CCDS30975.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271694	0.80469	.	.	ENSG00000133055	ENST00000255416	.	.	.	5.2	2.31	0.28768	.	1.251970	0.05936	N	0.636054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	6.3261	0.21244	0.3005:0.0:0.6995:0.0	.	.	.	.	X	36	.	ENSP00000255416:S36X	S	-	2	0	MYBPH	201411400	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	0.003000	0.13083	0.596000	0.29794	0.462000	0.41574	TCA		0.622	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1	NM_004997		85	218	0	0	0	0.014410	0	85	218				
ZNF318	24149	broad.mit.edu	37	6	43307216	43307216	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:43307216G>C	ENST00000361428.2	-	10	4597	c.4520C>G	c.(4519-4521)tCa>tGa	p.S1507*	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1507	Pro-rich.				meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TGGCTGTGCTGAGGCCATGAT	0.532																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(4519-4521)tCa>tGa		zinc finger protein 318							66.0	60.0	62.0					6																	43307216		2203	4300	6503	SO:0001587	stop_gained	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43307216G>C	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.4520C>G	6.37:g.43307216G>C	ENSP00000354964:p.Ser1507*					ZNF318_ENST00000318149.3_Intron	p.S1507*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	4597	-			1507			Pro-rich.		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Nonsense_Mutation	SNP	ENST00000361428.2	37	c.4520C>G	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	42	9.344412	0.99143	.	.	ENSG00000171467	ENST00000361428	.	.	.	5.14	5.14	0.70334	.	0.370475	0.22532	N	0.058839	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-11.2167	15.6443	0.77036	0.0:0.0:1.0:0.0	.	.	.	.	X	1507	.	ENSP00000354964:S1507X	S	-	2	0	ZNF318	43415194	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	3.191000	0.50981	2.687000	0.91594	0.655000	0.94253	TCA		0.532	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		20	45	0	0	0	0.010504	0	20	45				
ZFP36	7538	broad.mit.edu	37	19	39898586	39898586	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:39898586C>T	ENST00000248673.3	+	2	286	c.228C>T	c.(226-228)ttC>ttT	p.F76F	ZFP36_ENST00000594045.1_3'UTR|ZFP36_ENST00000597629.1_Silent_p.F82F|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	76					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCCTGGCTTCGCACCGCTGG	0.706																																					NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(244-246)ttC>ttT		ZFP36 ring finger protein							18.0	22.0	20.0					19																	39898586		2189	4273	6462	SO:0001819	synonymous_variant	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898586C>T	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.228C>T	19.37:g.39898586C>T						ZFP36_ENST00000248673.3_Silent_p.F76F|ZFP36_ENST00000594045.1_3'UTR	p.F82F			P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	320	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		76					B2RA54	Silent	SNP	ENST00000248673.3	37	c.246C>T																																																																																					0.706	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				22	33	0	0	0	0.002780	0	22	33				
EXD3	54932	broad.mit.edu	37	9	140249213	140249213	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr9:140249213T>C	ENST00000340951.4	-	9	965	c.770A>G	c.(769-771)aAc>aGc	p.N257S	EXD3_ENST00000342129.4_5'UTR	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						AATGGCCGCGTTGGGACACAG	0.697																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(769-771)aAc>aGc		exonuclease 3'-5' domain containing 3							23.0	30.0	27.0					9																	140249213		2064	4181	6245	SO:0001583	missense	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140249213T>C		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.770A>G	9.37:g.140249213T>C	ENSP00000340474:p.Asn257Ser					EXD3_ENST00000342129.4_5'UTR	p.N257S	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			9	965	-			257					Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	c.770A>G	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.775600	0.31411	.	.	ENSG00000187609	ENST00000340951	T	0.58060	0.36	2.67	-0.337	0.12654	.	0.000000	0.85682	U	0.000000	T	0.53254	0.1785	M	0.61703	1.905	0.09310	N	0.999997	P	0.52316	0.952	P	0.51895	0.683	T	0.48293	-0.9048	10	0.56958	D	0.05	.	7.4084	0.27004	0.0:0.0:0.4222:0.5778	.	257	Q8N9H8	MUT7_HUMAN	S	257	ENSP00000340474:N257S	ENSP00000340474:N257S	N	-	2	0	EXD3	139369034	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-0.162000	0.10012	0.204000	0.20548	-0.466000	0.05196	AAC		0.697	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		28	5	0	0	0	0.013726	0	28	5				
OR52B2	255725	broad.mit.edu	37	11	6191434	6191434	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:6191434G>A	ENST00000530810.1	-	1	204	c.123C>T	c.(121-123)gtC>gtT	p.V41V	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTTTCCCAGGACTGCAGTGA	0.478																																					NSCLC(5;186 261 1778 7098 14207)	ENST00000530810.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21						c.(121-123)gtC>gtT		olfactory receptor, family 52, subfamily B, member 2							143.0	141.0	142.0					11																	6191434		2068	4216	6284	SO:0001819	synonymous_variant	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6191434G>A	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.123C>T	11.37:g.6191434G>A						RP11-290F24.3_ENST00000529961.1_RNA	p.V41V	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	204	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	41					Q8NGM7	Silent	SNP	ENST00000530810.1	37	c.123C>T	CCDS53598.1																																																																																				0.478	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		34	17	0	0	0	0.013726	0	34	17				
SLMAP	7871	broad.mit.edu	37	3	57743444	57743444	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:57743444C>T	ENST00000428312.1	+	1	160	c.66C>T	c.(64-66)gtC>gtT	p.V22V	SLMAP_ENST00000295952.3_Silent_p.V22V|SLMAP_ENST00000295951.3_Silent_p.V22V|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000449503.2_Silent_p.V22V|SLMAP_ENST00000383718.3_Silent_p.V22V			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	22	Necessary for targeting to centrosomes. {ECO:0000250}.				muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AGCGTCATGTCTACCTGGACG	0.572																																						ENST00000383718.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18						c.(64-66)gtC>gtT		sarcolemma associated protein							66.0	58.0	61.0					3																	57743444		2203	4300	6503	SO:0001819	synonymous_variant	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57743444C>T	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.66C>T	3.37:g.57743444C>T						SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Silent_p.V22V|SLMAP_ENST00000449503.2_Silent_p.V22V|SLMAP_ENST00000428312.1_Silent_p.V22V|SLMAP_ENST00000295951.3_Silent_p.V22V	p.V22V			Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	1	164	+			22			Necessary for targeting to centrosomes (By similarity).		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Silent	SNP	ENST00000428312.1	37	c.66C>T																																																																																					0.572	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		26	9	0	0	0	0.005443	0	26	9				
MMP27	64066	broad.mit.edu	37	11	102562560	102562560	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:102562560C>G	ENST00000260229.4	-	10	1570	c.1479G>C	c.(1477-1479)aaG>aaC	p.K493N		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	493	Required for retention in the endoplasmic reticulum. {ECO:0000269|PubMed:24548619}.				collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	AGCTTAAACTCTTATGATACA	0.299																																						ENST00000260229.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1477-1479)aaG>aaC		matrix metallopeptidase 27							113.0	112.0	112.0					11																	102562560		2203	4295	6498	SO:0001583	missense	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102562560C>G	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1479G>C	11.37:g.102562560C>G	ENSP00000260229:p.Lys493Asn						p.K493N	NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	10	1570	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	493					Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	c.1479G>C	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513921	0.27123	.	.	ENSG00000137675	ENST00000260229	T	0.14391	2.51	5.83	1.58	0.23477	.	0.568002	0.16009	N	0.233887	T	0.07954	0.0199	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31724	-0.9933	10	0.42905	T	0.14	.	2.8761	0.05631	0.3275:0.3614:0.0:0.3111	.	493	Q9H306	MMP27_HUMAN	N	493	ENSP00000260229:K493N	ENSP00000260229:K493N	K	-	3	2	MMP27	102067770	0.001000	0.12720	0.026000	0.17262	0.777000	0.43975	0.220000	0.17660	0.009000	0.14813	0.563000	0.77884	AAG		0.299	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		32	585	0	0	0	0.010818	0	32	585				
CSMD2	114784	broad.mit.edu	37	1	34258100	34258100	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:34258100C>G	ENST00000338325.1	-	5	710	c.298G>C	c.(298-300)Gat>Cat	p.D100H	CSMD2_ENST00000373381.4_Missense_Mutation_p.D492H			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	452	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTCTCCAAATCAAACTCCTCA	0.552																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(1474-1476)Gat>Cat		CUB and Sushi multiple domains 2							152.0	128.0	136.0					1																	34258100		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34258100C>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.298G>C	1.37:g.34258100C>G	ENSP00000340311:p.Asp100His					CSMD2_ENST00000338325.1_Missense_Mutation_p.D100H	p.D492H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			11	1650	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	452			CUB 3.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000338325.1	37	c.1474G>C		.	.	.	.	.	.	.	.	.	.	C	24.3	4.517807	0.85495	.	.	ENSG00000121904	ENST00000373381;ENST00000338325	T;T	0.21361	2.01;2.01	5.06	5.06	0.68205	CUB (5);	0.054564	0.64402	D	0.000001	T	0.41971	0.1182	L	0.58354	1.805	0.80722	D	1	D;D	0.69078	0.997;0.99	D;D	0.71184	0.972;0.958	T	0.12528	-1.0544	10	0.41790	T	0.15	.	15.9139	0.79496	0.0:1.0:0.0:0.0	.	452;492	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	492;100	ENSP00000362479:D492H;ENSP00000340311:D100H	ENSP00000241312:D452H	D	-	1	0	CSMD2	34030687	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.468000	0.80943	2.368000	0.80403	0.467000	0.42956	GAT		0.552	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2	NM_052896		29	65	0	0	0	0.009535	0	29	65				
ATP10B	23120	broad.mit.edu	37	5	160071214	160071214	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:160071214C>T	ENST00000327245.5	-	9	1645	c.799G>A	c.(799-801)Gag>Aag	p.E267K		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	267					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAAGACTCTCACAGCCAAAG	0.512																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(799-801)Gag>Aag		ATPase, class V, type 10B							112.0	113.0	113.0					5																	160071214		2011	4175	6186	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160071214C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.799G>A	5.37:g.160071214C>T	ENSP00000313600:p.Glu267Lys						p.E267K	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1645	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	267					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.799G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053319	0.75960	.	.	ENSG00000118322	ENST00000327245	T	0.76578	-1.03	4.8	4.8	0.61643	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.85309	0.5667	L	0.58810	1.83	0.54753	D	0.999981	D;P;D;D	0.71674	0.988;0.567;0.984;0.998	P;P;P;D	0.71870	0.908;0.561;0.851;0.975	D	0.85132	0.0975	9	.	.	.	.	16.8625	0.86021	0.0:1.0:0.0:0.0	.	311;267;239;267	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	K	267	ENSP00000313600:E267K	.	E	-	1	0	ATP10B	160003792	0.997000	0.39634	1.000000	0.80357	0.941000	0.58515	3.488000	0.53229	2.208000	0.71279	0.563000	0.77884	GAG		0.512	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		28	54	0	0	0	0.009535	0	28	54				
LRP6	4040	broad.mit.edu	37	12	12302048	12302048	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr12:12302048G>T	ENST00000261349.4	-	14	3110	c.3034C>A	c.(3034-3036)Ctg>Atg	p.L1012M	LRP6_ENST00000543091.1_Missense_Mutation_p.L1012M	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1012	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TGTATTTCCAGGTTCTGACTC	0.428																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(3034-3036)Ctg>Atg		low density lipoprotein receptor-related protein 6							199.0	198.0	198.0					12																	12302048		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12302048G>T	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3034C>A	12.37:g.12302048G>T	ENSP00000261349:p.Leu1012Met					LRP6_ENST00000543091.1_Missense_Mutation_p.L1012M	p.L1012M	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			14	3110	-		Prostate(47;0.0865)	1012			Beta-propeller 4.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.3034C>A	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618304	0.28801	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.93712	-3.25;-3.27	5.91	4.08	0.47627	Six-bladed beta-propeller, TolB-like (1);	0.137479	0.32416	U	0.006129	D	0.83871	0.5348	N	0.12182	0.205	0.40763	D	0.983022	B;B	0.32467	0.372;0.007	B;B	0.26693	0.072;0.011	T	0.80612	-0.1305	10	0.46703	T	0.11	.	8.8912	0.35434	0.0675:0.0:0.6654:0.2672	.	1012;1012	F5H7J9;O75581	.;LRP6_HUMAN	M	1012	ENSP00000261349:L1012M;ENSP00000442472:L1012M	ENSP00000261349:L1012M	L	-	1	2	LRP6	12193315	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.995000	0.49441	0.825000	0.34637	0.650000	0.86243	CTG		0.428	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			94	147	1	0	1.41219e-46	0.014410	1.53124e-46	94	147				
SPG11	80208	broad.mit.edu	37	15	44856881	44856881	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:44856881C>T	ENST00000261866.7	-	39	7031	c.7015G>A	c.(7015-7017)Gag>Aag	p.E2339K	SPG11_ENST00000535302.2_Missense_Mutation_p.E2226K|SPG11_ENST00000427534.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2339					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCGTAGGCCTCAGCCACAATA	0.373																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(7015-7017)Gag>Aag		spastic paraplegia 11 (autosomal recessive)							51.0	55.0	53.0					15																	44856881		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44856881C>T		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.7015G>A	15.37:g.44856881C>T	ENSP00000261866:p.Glu2339Lys					SPG11_ENST00000535302.2_Missense_Mutation_p.E2226K|SPG11_ENST00000427534.2_Intron	p.E2339K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	39	7031	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	2339					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.7015G>A	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143271	0.94560	.	.	ENSG00000104133	ENST00000261866;ENST00000535302	T;T	0.79653	-1.29;-0.95	6.17	5.26	0.73747	.	0.188286	0.49916	D	0.000128	D	0.85128	0.5626	M	0.74881	2.28	0.80722	D	1	P;D;D	0.53745	0.901;0.962;0.962	P;P;P	0.51170	0.475;0.661;0.661	D	0.86578	0.1852	10	0.56958	D	0.05	.	15.0836	0.72133	0.0:0.8424:0.1576:0.0	.	2226;2339;2339	F5H3N6;C4B7M4;Q96JI7	.;.;SPTCS_HUMAN	K	2339;2226	ENSP00000261866:E2339K;ENSP00000445278:E2226K	ENSP00000261866:E2339K	E	-	1	0	SPG11	42644173	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.980000	0.70516	1.617000	0.50277	0.655000	0.94253	GAG		0.373	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			27	38	0	0	0	0.006320	0	27	38				
PIGS	94005	broad.mit.edu	37	17	26897883	26897883	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:26897883C>T	ENST00000308360.7	-	3	648	c.273G>A	c.(271-273)gaG>gaA	p.E91E	PIGS_ENST00000395346.2_Silent_p.E83E|PIGS_ENST00000543734.1_Silent_p.E30E|RP11-192H23.5_ENST00000585189.1_RNA	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	91					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCAGAGGAATCTCTCTTTCAT	0.562																																						ENST00000308360.7																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(271-273)gaG>gaA		phosphatidylinositol glycan anchor biosynthesis, class S							102.0	96.0	98.0					17																	26897883		2203	4300	6503	SO:0001819	synonymous_variant	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26897883C>T		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.273G>A	17.37:g.26897883C>T						PIGS_ENST00000395346.2_Silent_p.E83E|PIGS_ENST00000543734.1_Silent_p.E30E	p.E91E	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN			3	648	-	Lung NSC(42;0.00431)		91					Q6UVX6	Silent	SNP	ENST00000308360.7	37	c.273G>A	CCDS11235.1																																																																																				0.562	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		5	134	0	0	0	0.000602	0	5	134				
DCST2	127579	broad.mit.edu	37	1	155002952	155002952	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:155002952C>G	ENST00000368424.3	-	6	1033	c.975G>C	c.(973-975)ctG>ctC	p.L325L	DCST2_ENST00000295536.5_Silent_p.L325L	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	325						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGAAGCCCATCAGAGCCAGGG	0.662																																						ENST00000368424.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38						c.(973-975)ctG>ctC		DC-STAMP domain containing 2							63.0	53.0	56.0					1																	155002952		2203	4300	6503	SO:0001819	synonymous_variant	127579					integral to membrane		g.chr1:155002952C>G	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.975G>C	1.37:g.155002952C>G						DCST2_ENST00000295536.5_Silent_p.L325L	p.L325L	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		6	1033	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		325					Q2M2R2|Q8N810|Q96M03	Silent	SNP	ENST00000368424.3	37	c.975G>C	CCDS1082.2																																																																																				0.662	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		5	69	0	0	0	0.001168	0	5	69				
USP11	8237	broad.mit.edu	37	X	47098752	47098752	+	Missense_Mutation	SNP	G	G	C	rs372652752		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chrX:47098752G>C	ENST00000218348.3	+	3	418	c.418G>C	c.(418-420)Gag>Cag	p.E140Q	USP11_ENST00000377107.2_Missense_Mutation_p.E97Q	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	140	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CCCCACAGATGAGATAAACTG	0.562																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(289-291)Gag>Cag		ubiquitin specific peptidase 11							36.0	30.0	32.0					X																	47098752		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47098752G>C	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.418G>C	X.37:g.47098752G>C	ENSP00000218348:p.Glu140Gln					USP11_ENST00000218348.3_Missense_Mutation_p.E140Q	p.E97Q			P51784	UBP11_HUMAN			3	643	+			140			DUSP.		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.289G>C	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	3.541	-0.093769	0.07053	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.22336	1.96;1.96	5.85	4.05	0.47172	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.375104	0.25363	N	0.031220	T	0.07458	0.0188	N	0.03238	-0.38	0.22199	N	0.999297	B	0.06786	0.001	B	0.06405	0.002	T	0.37291	-0.9712	10	0.13853	T	0.58	-8.6967	5.272	0.15630	0.1417:0.6203:0.1568:0.0812	.	140	P51784	UBP11_HUMAN	Q	97;140	ENSP00000366311:E97Q;ENSP00000218348:E140Q	ENSP00000218348:E140Q	E	+	1	0	USP11	46983696	0.995000	0.38212	0.995000	0.50966	0.275000	0.26752	0.811000	0.27198	0.583000	0.29574	-0.253000	0.11424	GAG		0.562	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		17	5	0	0	0	0.004990	0	17	5				
MFAP3	4238	broad.mit.edu	37	5	153433244	153433244	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:153433244G>C	ENST00000436816.1	+	3	1279	c.1060G>C	c.(1060-1062)Gat>Cat	p.D354H	MFAP3_ENST00000439768.2_Missense_Mutation_p.D208H|MFAP3_ENST00000322602.5_Missense_Mutation_p.D354H	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	354					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		TAACTACAAAGATGGGGCATA	0.408																																						ENST00000436816.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(1060-1062)Gat>Cat		microfibrillar-associated protein 3							84.0	82.0	83.0					5																	153433244		2203	4300	6503	SO:0001583	missense	4238					integral to membrane|plasma membrane		g.chr5:153433244G>C		CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"""Immunoglobulin superfamily / I-set domain containing"""	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.1060G>C	5.37:g.153433244G>C	ENSP00000409933:p.Asp354His					MFAP3_ENST00000439768.2_Missense_Mutation_p.D208H|MFAP3_ENST00000322602.5_Missense_Mutation_p.D354H	p.D354H	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)	3	1279	+	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	354					B2RDK0|B4DKA1|Q9NXA7	Missense_Mutation	SNP	ENST00000436816.1	37	c.1060G>C	CCDS4324.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174345	0.57692	.	.	ENSG00000037749	ENST00000439768;ENST00000436816;ENST00000322602	T;T	0.20200	2.09;2.09	5.9	5.9	0.94986	.	0.275481	0.31233	N	0.008007	T	0.22044	0.0531	L	0.36672	1.1	0.32288	N	0.566703	P	0.42039	0.769	P	0.46718	0.525	T	0.14144	-1.0483	9	.	.	.	-7.121	9.5842	0.39506	0.1223:0.0:0.8777:0.0	.	354	P55082	MFAP3_HUMAN	H	208;354;354	ENSP00000409933:D354H;ENSP00000322956:D354H	.	D	+	1	0	MFAP3	153413437	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	2.712000	0.47186	2.786000	0.95864	0.650000	0.86243	GAT		0.408	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252457.2	NM_005927		25	36	0	0	0	0.006320	0	25	36				
FAHD2B	151313	broad.mit.edu	37	2	97749505	97749505	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:97749505T>C	ENST00000414820.1	-	9	1202	c.932A>G	c.(931-933)aAc>aGc	p.N311S	FAHD2B_ENST00000440566.2_Missense_Mutation_p.N311S|FAHD2B_ENST00000468548.1_5'Flank|FAHD2B_ENST00000272610.3_Missense_Mutation_p.N311S			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	311							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						CACCACCTTGTTGATGATGAC	0.567																																						ENST00000414820.1																			0				kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						c.(931-933)aAc>aGc		fumarylacetoacetate hydrolase domain containing 2B							148.0	111.0	123.0					2																	97749505		2203	4300	6503	SO:0001583	missense	151313						hydrolase activity|metal ion binding	g.chr2:97749505T>C		CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.932A>G	2.37:g.97749505T>C	ENSP00000410470:p.Asn311Ser					FAHD2B_ENST00000440566.2_Missense_Mutation_p.N311S|FAHD2B_ENST00000272610.3_Missense_Mutation_p.N311S	p.N311S			Q6P2I3	FAH2B_HUMAN			9	1202	-			311					D3DXH7|Q8NDK1	Missense_Mutation	SNP	ENST00000414820.1	37	c.932A>G	CCDS2030.1	.	.	.	.	.	.	.	.	.	.	t	20.4	3.990267	0.74589	.	.	ENSG00000144199	ENST00000414820;ENST00000272610;ENST00000440566	D;D;D	0.95412	-3.7;-3.7;-3.7	1.26	1.26	0.21427	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97037	0.9032	M	0.87547	2.89	0.43238	D	0.995144	D	0.89917	1.0	D	0.91635	0.999	D	0.95315	0.8415	10	0.62326	D	0.03	.	6.3198	0.21211	0.0:0.0:0.0:1.0	.	311	Q6P2I3	FAH2B_HUMAN	S	311	ENSP00000410470:N311S;ENSP00000272610:N311S;ENSP00000444599:N311S	ENSP00000272610:N311S	N	-	2	0	FAHD2B	97113232	1.000000	0.71417	0.998000	0.56505	0.692000	0.40212	4.758000	0.62220	0.554000	0.29061	0.155000	0.16302	AAC		0.567	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339482.1	NM_199336		38	88	0	0	0	0.007835	0	38	88				
ANK1	286	broad.mit.edu	37	8	41545690	41545690	+	Silent	SNP	G	G	C	rs369921554		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:41545690G>C	ENST00000347528.4	-	35	4325	c.4242C>G	c.(4240-4242)ctC>ctG	p.L1414L	ANK1_ENST00000265709.8_Silent_p.L1455L|ANK1_ENST00000396942.1_Silent_p.L1414L|ANK1_ENST00000379758.2_Silent_p.L1414L|ANK1_ENST00000289734.7_Silent_p.L1414L|ANK1_ENST00000352337.4_Silent_p.L1414L|ANK1_ENST00000396945.1_Silent_p.L1414L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1414	55 kDa regulatory domain.|Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGCTGAGACCGAGGTGCTCTG	0.512																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(4240-4242)ctC>ctG		ankyrin 1, erythrocytic							262.0	223.0	236.0					8																	41545690		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41545690G>C	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4242C>G	8.37:g.41545690G>C						ANK1_ENST00000396945.1_Silent_p.L1414L|ANK1_ENST00000289734.7_Silent_p.L1414L|ANK1_ENST00000379758.2_Silent_p.L1414L|ANK1_ENST00000265709.8_Silent_p.L1455L|ANK1_ENST00000347528.4_Silent_p.L1414L|ANK1_ENST00000352337.4_Silent_p.L1414L	p.L1414L			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		35	4325	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1414			55 kDa regulatory domain.|Death.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.4242C>G	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	4.232	0.041915	0.08196	.	.	ENSG00000029534	ENST00000520299	.	.	.	5.4	-10.8	0.00216	.	.	.	.	.	T	0.45216	0.1331	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56438	-0.7979	4	.	.	.	.	8.6282	0.33904	0.1737:0.5473:0.2034:0.0755	.	.	.	.	G	736	.	.	R	-	1	2	ANK1	41664847	0.014000	0.17966	0.864000	0.33941	0.626000	0.37791	-0.902000	0.04088	-1.583000	0.01638	-0.373000	0.07131	CGG		0.512	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		76	43	0	0	0	0.014410	0	76	43				
CYP2B7P	1556	broad.mit.edu	37	19	41447266	41447266	+	RNA	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:41447266C>G	ENST00000599198.1	+	0	765					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TTTACAAAAACCTACAGGAAA	0.527																																						ENST00000599198.1																			0				NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12																																														1556							g.chr19:41447266C>G																													19.37:g.41447266C>G								NR_001278.1						0	765	+									RNA	SNP	ENST00000599198.1	37			.	.	.	.	.	.	.	.	.	.	C	9.372	1.070748	0.20147	.	.	ENSG00000256612	ENST00000541697	.	.	.	3.23	1.02	0.19986	.	0.614638	0.16829	N	0.197826	T	0.31199	0.0789	.	.	.	.	.	.	P	0.36086	0.536	B	0.40534	0.332	T	0.32534	-0.9903	7	0.49607	T	0.09	.	3.0865	0.06279	0.0:0.5082:0.2517:0.24	.	237	B6A7R5	.	K	237	.	ENSP00000441190:N237K	N	+	3	2	AC008537.4	46139106	0.000000	0.05858	0.968000	0.41197	0.030000	0.12068	-1.907000	0.01589	0.684000	0.31448	-0.477000	0.04895	AAC		0.527	CYP2B7P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000465180.1			18	144	0	0	0	0.006122	0	18	144				
DNAH2	146754	broad.mit.edu	37	17	7623114	7623114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:7623114G>A	ENST00000572933.1	+	2	1522	c.62G>A	c.(61-63)tGg>tAg	p.W21*	DNAH2_ENST00000082259.3_Nonsense_Mutation_p.W21*|DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W21*|DNAH2_ENST00000570791.1_Nonsense_Mutation_p.W21*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	21	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGGCAAGCTGGTCAGGGCGG	0.617																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(61-63)tGg>tAg		dynein, axonemal, heavy chain 2							29.0	28.0	29.0					17																	7623114		2201	4299	6500	SO:0001587	stop_gained	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7623114G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.62G>A	17.37:g.7623114G>A	ENSP00000458355:p.Trp21*					DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W21*|DNAH2_ENST00000082259.3_Nonsense_Mutation_p.W21*|DNAH2_ENST00000570791.1_Nonsense_Mutation_p.W21*	p.W21*			Q9P225	DYH2_HUMAN			2	1522	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	21			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	ENST00000572933.1	37	c.62G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.498942	0.44455	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	.	.	.	3.04	-1.82	0.07857	.	0.948004	0.08877	N	0.880651	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	3.4931	0.07645	0.3848:0.1989:0.4163:0.0	.	.	.	.	X	21	.	ENSP00000082259:W21X	W	+	2	0	DNAH2	7563839	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.017000	0.12590	-0.513000	0.06496	-0.448000	0.05591	TGG		0.617	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		18	24	0	0	0	0.010504	0	18	24				
NYAP1	222950	broad.mit.edu	37	7	100087172	100087172	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:100087172G>A	ENST00000300179.2	+	4	1987	c.1828G>A	c.(1828-1830)Gcc>Acc	p.A610T	NYAP1_ENST00000423930.1_Missense_Mutation_p.A610T|NYAP1_ENST00000454988.1_Missense_Mutation_p.A553T	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	610					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CCACGTCATCGCCAGCGCAGG	0.637																																						ENST00000423930.1																			0											c.(1828-1830)Gcc>Acc		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							44.0	47.0	46.0					7																	100087172		2203	4300	6503	SO:0001583	missense	222950							g.chr7:100087172G>A	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1828G>A	7.37:g.100087172G>A	ENSP00000300179:p.Ala610Thr					NYAP1_ENST00000454988.1_Missense_Mutation_p.A553T|NYAP1_ENST00000300179.2_Missense_Mutation_p.A610T	p.A610T			Q6ZVC0	CG051_HUMAN			4	1987	+			610					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.1828G>A	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698252	0.30142	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.32753	1.44;1.44;1.44	5.42	2.58	0.30949	.	0.136978	0.33438	N	0.004904	T	0.15522	0.0374	N	0.19112	0.55	0.31117	N	0.709337	B;B	0.28584	0.216;0.0	B;B	0.16722	0.016;0.002	T	0.10245	-1.0638	10	0.40728	T	0.16	-8.32	5.8918	0.18917	0.1736:0.1559:0.6705:0.0	.	553;610	C9JS30;Q6ZVC0	.;CG051_HUMAN	T	610;610;553	ENSP00000300179:A610T;ENSP00000411861:A610T;ENSP00000394424:A553T	ENSP00000300179:A610T	A	+	1	0	C7orf51	99925108	0.931000	0.31567	0.989000	0.46669	0.977000	0.68977	0.471000	0.22100	0.240000	0.21263	0.561000	0.74099	GCC		0.637	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		35	95	0	0	0	0.004878	0	35	95				
ZNF284	342909	broad.mit.edu	37	19	44591044	44591044	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:44591044G>C	ENST00000421176.3	+	5	1629	c.1413G>C	c.(1411-1413)ttG>ttC	p.L471F	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	471					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				CAGGTATTTTGAGACATAAGA	0.413																																						ENST00000421176.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(1411-1413)ttG>ttC		zinc finger protein 284							58.0	63.0	61.0					19																	44591044		2186	4289	6475	SO:0001583	missense	342909				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44591044G>C	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.1413G>C	19.37:g.44591044G>C	ENSP00000411032:p.Leu471Phe					ZNF223_ENST00000591793.1_3'UTR	p.L471F	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN			5	1629	+		Prostate(69;0.0435)	471					Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	c.1413G>C	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220479	0.39201	.	.	ENSG00000186026	ENST00000421176	T	0.54866	0.55	2.37	1.13	0.20643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50820	0.1638	N	0.25201	0.72	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.34576	-0.9823	9	0.48119	T	0.1	.	2.9357	0.05814	0.1629:0.0:0.4523:0.3847	.	471	Q2VY69	ZN284_HUMAN	F	471	ENSP00000411032:L471F	ENSP00000411032:L471F	L	+	3	2	ZNF284	49282884	0.000000	0.05858	0.002000	0.10522	0.994000	0.84299	-7.267000	0.00040	1.311000	0.45024	0.462000	0.41574	TTG		0.413	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813		33	37	0	0	0	0.013726	0	33	37				
MAP3K7	6885	broad.mit.edu	37	6	91228236	91228236	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:91228236C>G	ENST00000369329.3	-	16	1731	c.1570G>C	c.(1570-1572)Gaa>Caa	p.E524Q	MAP3K7_ENST00000369332.3_Missense_Mutation_p.E497Q|MAP3K7_ENST00000369320.1_Missense_Mutation_p.E178Q|MAP3K7_ENST00000369325.3_Intron|MAP3K7_ENST00000369327.3_Intron|MAP3K7_ENST00000479630.1_5'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	524					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.E497Q(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAATGCTGTTCAAACACTGCC	0.289																																						ENST00000369329.3																			1	Substitution - Missense(1)	p.E497Q(1)	upper_aerodigestive_tract(1)	endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(1570-1572)Gaa>Caa		mitogen-activated protein kinase kinase kinase 7							68.0	64.0	65.0					6																	91228236		2203	4299	6502	SO:0001583	missense	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91228236C>G	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1570G>C	6.37:g.91228236C>G	ENSP00000358335:p.Glu524Gln					MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369320.1_Missense_Mutation_p.E178Q|MAP3K7_ENST00000369325.3_Intron|MAP3K7_ENST00000369332.3_Missense_Mutation_p.E497Q|MAP3K7_ENST00000369327.3_Intron	p.E524Q	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	16	1731	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	524					B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.1570G>C	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049313	0.55218	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369320	T;T	0.77620	-1.11;-1.09	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.57095	0.2030	N	0.25647	0.755	0.80722	D	1	B;B	0.32781	0.23;0.384	B;B	0.30251	0.032;0.113	T	0.58429	-0.7638	10	0.27082	T	0.32	.	19.88	0.96892	0.0:1.0:0.0:0.0	.	497;524	O43318-2;O43318	.;M3K7_HUMAN	Q	497;524;178	ENSP00000358338:E497Q;ENSP00000358335:E524Q	ENSP00000358326:E178Q	E	-	1	0	MAP3K7	91284957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.974000	0.70465	2.703000	0.92315	0.655000	0.94253	GAA		0.289	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		11	24	0	0	0	0.010729	0	11	24				
TTN	7273	broad.mit.edu	37	2	179392320	179392320	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:179392320C>T	ENST00000591111.1	-	312	102834	c.102610G>A	c.(102610-102612)Gag>Aag	p.E34204K	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E26905K|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E26972K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E26780K|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E35845K|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E33277K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	34204	Ser-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTCATCTCAGTCATGCTG	0.478																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(107533-107535)Gag>Aag		titin							104.0	100.0	101.0					2																	179392320		1987	4174	6161	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179392320C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102610G>A	2.37:g.179392320C>T	ENSP00000465570:p.Glu34204Lys					TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E26905K|TTN_ENST00000342992.6_Missense_Mutation_p.E33277K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E26972K|TTN_ENST00000460472.2_Missense_Mutation_p.E26780K|TTN_ENST00000591111.1_Missense_Mutation_p.E34204K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590040.1_RNA	p.E35845K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		362	107757	-			34204					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.107533G>A		.	.	.	.	.	.	.	.	.	.	C	17.99	3.524090	0.64747	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68331	-0.32;0.18;0.17;0.15	5.62	5.62	0.85841	.	.	.	.	.	T	0.53818	0.1820	N	0.24115	0.695	0.44352	D	0.997243	P;P;P;P	0.45348	0.856;0.856;0.856;0.856	B;B;B;B	0.35182	0.197;0.197;0.197;0.197	T	0.63097	-0.6713	9	0.87932	D	0	.	19.6592	0.95857	0.0:1.0:0.0:0.0	.	26780;26905;26972;34204	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	33277;26780;26972;26905;26777	ENSP00000343764:E33277K;ENSP00000434586:E26780K;ENSP00000340554:E26972K;ENSP00000352154:E26905K	ENSP00000340554:E26972K	E	-	1	0	TTN	179100566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.263000	0.78421	2.653000	0.90120	0.655000	0.94253	GAG		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	35	0	0	0	0.003271	0	36	35				
SF1	7536	broad.mit.edu	37	11	64534668	64534668	+	Silent	SNP	T	T	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:64534668T>C	ENST00000377390.3	-	11	1735	c.1398A>G	c.(1396-1398)ggA>ggG	p.G466G	SF1_ENST00000377394.3_Missense_Mutation_p.K468E|SF1_ENST00000334944.5_Silent_p.G466G|SF1_ENST00000422298.2_Silent_p.G351G|SF1_ENST00000227503.9_Silent_p.G466G|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000377387.1_Silent_p.G591G|SF1_ENST00000433274.2_Silent_p.G440G	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	466	Pro-rich.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CATTACCTTTTCCTTGATGCA	0.562																																						ENST00000377394.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(1402-1404)Aaa>Gaa		splicing factor 1							164.0	133.0	144.0					11																	64534668		2201	4297	6498	SO:0001819	synonymous_variant	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64534668T>C	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.1398A>G	11.37:g.64534668T>C						SF1_ENST00000422298.2_Silent_p.G351G|SF1_ENST00000377387.1_Silent_p.G591G|SF1_ENST00000227503.9_Silent_p.G466G|SF1_ENST00000334944.5_Silent_p.G466G|SF1_ENST00000377390.3_Silent_p.G466G|SF1_ENST00000433274.2_Silent_p.G440G	p.K468E	NM_201997.2	NP_973726.2	Q15637	SF01_HUMAN			11	1756	-			0			Pro-rich.		B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.1402A>G	CCDS31599.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.30|15.30	2.792906|2.792906	0.50102|0.50102	.|.	.|.	ENSG00000168066|ENSG00000168066	ENST00000413725|ENST00000377394;ENST00000486867	.|T;T	.|0.52754	.|0.95;0.65	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|.	.|.	.|.	.|.	T|T	0.51346|0.51346	0.1669|0.1669	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.37398	.|0.593	.|P	.|0.45577	.|0.486	T|T	0.53760|0.53760	-0.8393|-0.8393	4|8	.|0.52906	.|T	.|0.07	.|.	11.5238|11.5238	0.50567|0.50567	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|468	.|Q15637-6	.|.	G|E	36|468;186	.|ENSP00000366611:K468E;ENSP00000419062:K186E	.|ENSP00000366611:K468E	E|K	-|-	2|1	0|0	SF1|SF1	64291244|64291244	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	2.876000|2.876000	0.48498|0.48498	1.990000|1.990000	0.58119|0.58119	0.459000|0.459000	0.35465|0.35465	GAA|AAA		0.562	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		40	61	0	0	0	0.011902	0	40	61				
TOE1	114034	broad.mit.edu	37	1	45808853	45808853	+	Missense_Mutation	SNP	C	C	T	rs373495451		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:45808853C>T	ENST00000372090.5	+	8	1595	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000372115.3_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000450313.1_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.R258W|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000529984.1_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	338						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CAAGCGGCGACGGCGACGACG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18672	0.0		0.0	False		,,,				2504	0.001					ENST00000372090.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11						c.(1012-1014)Cgg>Tgg		target of EGR1, member 1 (nuclear)		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	112.0	113.0	112.0		1012	3.0	1.0	1		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	TOE1	NM_025077.3	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	338/511	45808853	2,13004	2203	4300	6503	SO:0001583	missense	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45808853C>T		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.1012C>T	1.37:g.45808853C>T	ENSP00000361162:p.Arg338Trp					TOE1_ENST00000539779.1_Missense_Mutation_p.R258W|TOE1_ENST00000495703.1_3'UTR	p.R338W	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN			8	1595	+	Acute lymphoblastic leukemia(166;0.155)		338					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	37	c.1012C>T	CCDS521.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396769	0.62177	2.27E-4	1.16E-4	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.27720	1.65;1.65	5.99	3.01	0.34805	.	0.115680	0.64402	D	0.000015	T	0.52468	0.1736	M	0.62723	1.935	0.43787	D	0.996325	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	T	0.55541	-0.8125	10	0.87932	D	0	-15.3334	15.4558	0.75311	0.361:0.639:0.0:0.0	.	258;338	B4DEM6;Q96GM8	.;TOE1_HUMAN	W	338;258	ENSP00000361162:R338W;ENSP00000438900:R258W	ENSP00000361162:R338W	R	+	1	2	TOE1	45581440	0.792000	0.28813	0.998000	0.56505	0.730000	0.41778	0.124000	0.15728	0.368000	0.24481	-0.182000	0.12963	CGG		0.567	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077		81	129	0	0	0	0.014410	0	81	129				
ANKRD11	29123	broad.mit.edu	37	16	89349254	89349254	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:89349254C>G	ENST00000301030.4	-	9	4156	c.3696G>C	c.(3694-3696)aaG>aaC	p.K1232N	ANKRD11_ENST00000378330.2_Missense_Mutation_p.K1232N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1232	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GTTTATTTTTCTTATCTTGCG	0.443																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(3694-3696)aaG>aaC		ankyrin repeat domain 11							64.0	71.0	69.0					16																	89349254		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89349254C>G	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3696G>C	16.37:g.89349254C>G	ENSP00000301030:p.Lys1232Asn					ANKRD11_ENST00000378330.2_Missense_Mutation_p.K1232N	p.K1232N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	4156	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1232			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.3696G>C	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454820	0.43634	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.54279	0.58;0.58	5.09	4.14	0.48551	.	0.059072	0.64402	D	0.000003	T	0.61825	0.2378	M	0.74258	2.255	0.80722	D	1	D	0.56035	0.974	P	0.50352	0.638	T	0.68168	-0.5480	10	0.72032	D	0.01	.	13.2495	0.60043	0.0:0.9222:0.0:0.0778	.	1232	Q6UB99	ANR11_HUMAN	N	1232	ENSP00000301030:K1232N;ENSP00000367581:K1232N	ENSP00000301030:K1232N	K	-	3	2	ANKRD11	87876755	1.000000	0.71417	0.236000	0.24074	0.032000	0.12392	5.566000	0.67372	1.274000	0.44362	0.561000	0.74099	AAG		0.443	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		58	57	0	0	0	0.014410	0	58	57				
FNDC3B	64778	broad.mit.edu	37	3	172070742	172070742	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:172070742G>A	ENST00000336824.4	+	22	2763	c.2664G>A	c.(2662-2664)ctG>ctA	p.L888L	FNDC3B_ENST00000416957.1_Silent_p.L888L|FNDC3B_ENST00000415807.2_Silent_p.L888L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	888	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GCCTTGTACTGAACTGGGAAG	0.542																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(2662-2664)ctG>ctA		fibronectin type III domain containing 3B							127.0	101.0	110.0					3																	172070742		2203	4300	6503	SO:0001819	synonymous_variant	64778					endoplasmic reticulum|integral to membrane		g.chr3:172070742G>A	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2664G>A	3.37:g.172070742G>A						FNDC3B_ENST00000415807.2_Silent_p.L888L|FNDC3B_ENST00000416957.1_Silent_p.L888L	p.L888L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	22	2763	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		888			Fibronectin type-III 7.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	ENST00000336824.4	37	c.2664G>A	CCDS3217.1																																																																																				0.542	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		31	95	0	0	0	0.004289	0	31	95				
ANKRD11	29123	broad.mit.edu	37	16	89349405	89349405	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:89349405C>T	ENST00000301030.4	-	9	4005	c.3545G>A	c.(3544-3546)aGa>aAa	p.R1182K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1182K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1182	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTCCTGTCTCTGGGCTCCTT	0.542																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(3544-3546)aGa>aAa		ankyrin repeat domain 11							69.0	76.0	74.0					16																	89349405		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89349405C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3545G>A	16.37:g.89349405C>T	ENSP00000301030:p.Arg1182Lys					ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1182K	p.R1182K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	4005	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1182			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.3545G>A	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.869557	0.00547	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.25085	1.82;1.82	4.8	-4.41	0.03590	.	0.505367	0.17693	N	0.165213	T	0.06690	0.0171	N	0.01874	-0.695	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	10	0.02654	T	1	.	11.9173	0.52774	0.0:0.5223:0.0:0.4777	.	1182	Q6UB99	ANR11_HUMAN	K	1182	ENSP00000301030:R1182K;ENSP00000367581:R1182K	ENSP00000301030:R1182K	R	-	2	0	ANKRD11	87876906	0.989000	0.36119	0.000000	0.03702	0.002000	0.02628	2.165000	0.42396	-1.074000	0.03132	-1.149000	0.01842	AGA		0.542	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		58	79	0	0	0	0.014410	0	58	79				
VIPR2	7434	broad.mit.edu	37	7	158823439	158823439	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:158823439C>G	ENST00000262178.2	-	13	1370	c.1185G>C	c.(1183-1185)ccG>ccC	p.P395P	VIPR2_ENST00000402066.1_Silent_p.P536P|VIPR2_ENST00000377633.3_Silent_p.P379P	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	395					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CGGACGGGGTCGGGCACCGGC	0.706																																					Pancreas(154;1876 1931 2329 17914 20079)	ENST00000262178.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(1183-1185)ccG>ccC		vasoactive intestinal peptide receptor 2							12.0	16.0	15.0					7																	158823439		2182	4286	6468	SO:0001819	synonymous_variant	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158823439C>G	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.1185G>C	7.37:g.158823439C>G						VIPR2_ENST00000377633.3_Silent_p.P379P|VIPR2_ENST00000402066.1_Silent_p.P536P	p.P395P	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	13	1370	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	395					Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Silent	SNP	ENST00000262178.2	37	c.1185G>C	CCDS5950.1																																																																																				0.706	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		4	7	0	0	0	0.009096	0	4	7				
BAIAP3	8938	broad.mit.edu	37	16	1388988	1388988	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:1388988G>C	ENST00000324385.5	+	3	480	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	BAIAP3_ENST00000562208.1_Missense_Mutation_p.E73Q|BAIAP3_ENST00000426824.3_Missense_Mutation_p.E73Q|BAIAP3_ENST00000421665.2_Missense_Mutation_p.E73Q|BAIAP3_ENST00000397488.2_Missense_Mutation_p.E73Q|BAIAP3_ENST00000568887.1_Missense_Mutation_p.E73Q|BAIAP3_ENST00000397489.1_Missense_Mutation_p.E73Q	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	108					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GCCGTGCCTCGAGGTAAGGGT	0.667																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(322-324)Gag>Cag		BAI1-associated protein 3							65.0	70.0	68.0					16																	1388988		2199	4300	6499	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1388988G>C	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.322G>C	16.37:g.1388988G>C	ENSP00000324510:p.Glu108Gln					BAIAP3_ENST00000421665.2_Missense_Mutation_p.E73Q|BAIAP3_ENST00000397489.1_Missense_Mutation_p.E73Q|BAIAP3_ENST00000426824.3_Missense_Mutation_p.E73Q|BAIAP3_ENST00000397488.2_Missense_Mutation_p.E73Q|BAIAP3_ENST00000562208.1_Missense_Mutation_p.E73Q|BAIAP3_ENST00000568887.1_Missense_Mutation_p.E73Q	p.E108Q	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			3	480	+		Hepatocellular(780;0.0893)	108					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.322G>C	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465852	0.43839	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.73469	-0.68;-0.57;-0.7;-0.57;-0.75	4.19	4.19	0.49359	.	0.149360	0.43416	D	0.000579	T	0.80292	0.4596	L	0.56769	1.78	0.30502	N	0.770281	D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999	D;D;D;D;D	0.70716	0.914;0.937;0.97;0.97;0.914	T	0.77122	-0.2704	10	0.51188	T	0.08	-36.3658	7.7988	0.29162	0.1122:0.0:0.8878:0.0	.	73;108;73;108;73	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	Q	73;73;108;73;73	ENSP00000407242:E73Q;ENSP00000380625:E73Q;ENSP00000324510:E108Q;ENSP00000380626:E73Q;ENSP00000409533:E73Q	ENSP00000324510:E108Q	E	+	1	0	BAIAP3	1328989	0.962000	0.33011	0.953000	0.39169	0.189000	0.23516	2.851000	0.48302	2.152000	0.67230	0.484000	0.47621	GAG		0.667	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			40	66	0	0	0	0.006230	0	40	66				
TSKS	60385	broad.mit.edu	37	19	50247585	50247585	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:50247585C>G	ENST00000246801.3	-	8	1346	c.1264G>C	c.(1264-1266)Gag>Cag	p.E422Q	TSKS_ENST00000358830.3_Missense_Mutation_p.E222Q	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	422					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCGAACTCCTCCAGAATGGGT	0.597																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(1264-1266)Gag>Cag		testis-specific serine kinase substrate							77.0	70.0	72.0					19																	50247585		2203	4300	6503	SO:0001583	missense	60385						protein binding	g.chr19:50247585C>G	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1264G>C	19.37:g.50247585C>G	ENSP00000246801:p.Glu422Gln					TSKS_ENST00000358830.3_Missense_Mutation_p.E222Q	p.E422Q	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	8	1346	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	422					Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	c.1264G>C	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447055	0.63178	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.45276	0.9;0.9	4.99	4.99	0.66335	.	0.000000	0.53938	D	0.000041	T	0.51415	0.1673	L	0.29908	0.895	0.31927	N	0.612639	D	0.67145	0.996	D	0.78314	0.991	T	0.58719	-0.7587	10	0.62326	D	0.03	-33.2904	13.6499	0.62304	0.0:1.0:0.0:0.0	.	422	Q9UJT2	TSKS_HUMAN	Q	422;222	ENSP00000246801:E422Q;ENSP00000351691:E222Q	ENSP00000246801:E422Q	E	-	1	0	TSKS	54939397	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	3.425000	0.52771	2.592000	0.87571	0.555000	0.69702	GAG		0.597	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		32	52	0	0	0	0.012213	0	32	52				
EML5	161436	broad.mit.edu	37	14	89131807	89131807	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:89131807C>T	ENST00000380664.5	-	22	3150	c.3151G>A	c.(3151-3153)Gat>Aat	p.D1051N	EML5_ENST00000352093.5_Missense_Mutation_p.D1013N|EML5_ENST00000554922.1_Missense_Mutation_p.D1051N			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1051						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCTTTACCATCAGGAGAAAAA	0.413																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3151-3153)Gat>Aat		echinoderm microtubule associated protein like 5							83.0	81.0	81.0					14																	89131807		1898	4118	6016	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89131807C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3151G>A	14.37:g.89131807C>T	ENSP00000370039:p.Asp1051Asn					EML5_ENST00000380664.5_Missense_Mutation_p.D1051N|EML5_ENST00000352093.5_Missense_Mutation_p.D1013N	p.D1051N	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			22	3399	-			1051					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.3151G>A	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	34	5.388185	0.95988	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.53206	0.63;1.96;0.63	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71685	0.3369	M	0.80616	2.505	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72121	-0.4386	10	0.49607	T	0.09	-22.4521	18.9814	0.92756	0.0:1.0:0.0:0.0	.	1051;1051	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	N	1051;1013;1051	ENSP00000451998:D1051N;ENSP00000298315:D1013N;ENSP00000370039:D1051N	ENSP00000298315:D1013N	D	-	1	0	EML5	88201560	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.826000	0.97356	0.655000	0.94253	GAT		0.413	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			33	57	0	0	0	0.005524	0	33	57				
TNFAIP1	7126	broad.mit.edu	37	17	26666552	26666552	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:26666552C>T	ENST00000226225.2	+	2	272	c.5C>T	c.(4-6)tCg>tTg	p.S2L	TNFAIP1_ENST00000583213.1_Intron|TNFAIP1_ENST00000544907.2_Intron	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	2					apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CGGGAGATGTCGGGGGACACC	0.637																																						ENST00000226225.2																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12						c.(4-6)tCg>tTg		tumor necrosis factor, alpha-induced protein 1 (endothelial)							44.0	38.0	40.0					17																	26666552		2203	4300	6503	SO:0001583	missense	7126				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr17:26666552C>T		CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"""BTB/POZ domain containing"""	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.5C>T	17.37:g.26666552C>T	ENSP00000226225:p.Ser2Leu					TNFAIP1_ENST00000583213.1_Intron|TNFAIP1_ENST00000544907.2_Intron	p.S2L	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	272	+	all_lung(13;0.000294)|Lung NSC(42;0.000964)		2					B7Z6M4|Q5TZQ1	Missense_Mutation	SNP	ENST00000226225.2	37	c.5C>T	CCDS11227.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803471	0.50315	.	.	ENSG00000109079	ENST00000226225	T	0.54866	0.55	6.07	5.1	0.69264	.	0.477184	0.22360	N	0.061090	T	0.68054	0.2959	L	0.55990	1.75	0.58432	D	0.999994	D	0.89917	1.0	D	0.81914	0.995	T	0.71048	-0.4705	10	0.87932	D	0	-5.1088	14.6733	0.68961	0.0:0.9307:0.0:0.0693	.	2	Q13829	BACD2_HUMAN	L	2	ENSP00000226225:S2L	ENSP00000226225:S2L	S	+	2	0	TNFAIP1	23690679	1.000000	0.71417	0.898000	0.35279	0.725000	0.41563	5.778000	0.68940	1.577000	0.49804	0.655000	0.94253	TCG		0.637	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255681.2	NM_021137		17	31	0	0	0	0.004990	0	17	31				
MED1	5469	broad.mit.edu	37	17	37564043	37564043	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:37564043C>T	ENST00000300651.6	-	17	4654	c.4431G>A	c.(4429-4431)caG>caA	p.Q1477Q	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGGGACTATTCTGATAAGATT	0.453										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(4429-4431)caG>caA		mediator complex subunit 1							92.0	89.0	90.0					17																	37564043		2203	4300	6503	SO:0001819	synonymous_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37564043C>T	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4431G>A	17.37:g.37564043C>T		HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.Q1477Q	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	4654	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1477			Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000300651.6	37	c.4431G>A	CCDS11336.1																																																																																				0.453	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		27	95	0	0	0	0.006320	0	27	95				
HHIPL2	79802	broad.mit.edu	37	1	222721362	222721362	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:222721362G>C	ENST00000343410.6	-	1	83	c.25C>G	c.(25-27)Ctg>Gtg	p.L9V		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	9					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCACCACACAGATTAGGAGTG	0.582																																						ENST00000343410.6																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(25-27)Ctg>Gtg		HHIP-like 2							55.0	65.0	62.0					1																	222721362		2035	4169	6204	SO:0001583	missense	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222721362G>C	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.25C>G	1.37:g.222721362G>C	ENSP00000342118:p.Leu9Val						p.L9V	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	1	83	-			9					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	c.25C>G	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	4.446	0.082563	0.08533	.	.	ENSG00000143512	ENST00000343410	T	0.13420	2.59	2.2	1.27	0.21489	.	3.088360	0.01378	N	0.012807	T	0.08626	0.0214	N	0.22421	0.69	0.09310	N	1	B	0.15930	0.015	B	0.09377	0.004	T	0.26395	-1.0104	10	0.11794	T	0.64	-0.8158	2.1964	0.03912	0.3016:0.0:0.4485:0.2499	.	9	Q6UWX4	HIPL2_HUMAN	V	9	ENSP00000342118:L9V	ENSP00000342118:L9V	L	-	1	2	HHIPL2	220787985	0.002000	0.14202	0.007000	0.13788	0.089000	0.18198	1.127000	0.31357	0.489000	0.27749	0.561000	0.74099	CTG		0.582	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746		23	47	0	0	0	0.004656	0	23	47				
AUTS2	26053	broad.mit.edu	37	7	70227855	70227855	+	Splice_Site	SNP	G	G	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:70227855G>T	ENST00000342771.4	+	7	1063		c.e7-1		AUTS2_ENST00000406775.2_Splice_Site	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2											breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CTCCCATGCAGATCCGGAGTT	0.522																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.e7-1		autism susceptibility candidate 2							180.0	181.0	180.0					7																	70227855		2203	4300	6503	SO:0001630	splice_region_variant	26053							g.chr7:70227855G>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.743-1G>T	7.37:g.70227855G>T						AUTS2_ENST00000406775.2_Splice_Site		NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	7	1063	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)						A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Splice_Site	SNP	ENST00000342771.4	37		CCDS5539.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340164	0.81911	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000416482	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3415	0.90307	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AUTS2	69865791	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.505000	0.90515	2.561000	0.86390	0.557000	0.71058	.		0.522	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2		Intron	44	225	1	0	2.24722e-20	0.014410	2.40866e-20	44	225				
OR1B1	347169	broad.mit.edu	37	9	125391590	125391590	+	Silent	SNP	T	T	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr9:125391590T>G	ENST00000304833.3	-	1	262	c.225A>C	c.(223-225)ctA>ctC	p.L75L	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						TAACTGTGGATAGCCCCATGT	0.522																																						ENST00000304833.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						c.(223-225)ctA>ctC		olfactory receptor, family 1, subfamily B, member 1							90.0	77.0	81.0					9																	125391590		2203	4300	6503	SO:0001819	synonymous_variant	347169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125391590T>G	AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"""GPCR / Class A : Olfactory receptors"""	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.225A>C	9.37:g.125391590T>G						RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	p.L75L	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN			1	262	-			75					Q6IFN3	Silent	SNP	ENST00000304833.3	37	c.225A>C	CCDS35126.1																																																																																				0.522	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450		48	10	0	0	0	0.014410	0	48	10				
KRT39	390792	broad.mit.edu	37	17	39118663	39118663	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:39118663G>C	ENST00000355612.2	-	4	896	c.861C>G	c.(859-861)ttC>ttG	p.F287L	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	287	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CCTGCGTGTTGAACCACTGTT	0.433																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(859-861)ttC>ttG		keratin 39							388.0	399.0	395.0					17																	39118663		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39118663G>C	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.861C>G	17.37:g.39118663G>C	ENSP00000347823:p.Phe287Leu					AC004231.2_ENST00000418393.1_RNA	p.F287L	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN			4	896	-		Breast(137;0.00043)|Ovarian(249;0.15)	287			Coil 2.|Rod.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.861C>G	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777500	0.70107	.	.	ENSG00000196859	ENST00000355612	D	0.91295	-2.82	5.7	4.73	0.59995	Filament (1);	0.000000	0.47093	D	0.000242	D	0.95636	0.8581	H	0.94385	3.53	0.38873	D	0.956747	D	0.54207	0.965	P	0.57371	0.819	D	0.96841	0.9618	10	0.66056	D	0.02	.	13.7797	0.63075	0.0744:0.0:0.9256:0.0	.	287	Q6A163	K1C39_HUMAN	L	287	ENSP00000347823:F287L	ENSP00000347823:F287L	F	-	3	2	KRT39	36372189	1.000000	0.71417	0.998000	0.56505	0.228000	0.25075	4.257000	0.58816	2.692000	0.91855	0.655000	0.94253	TTC		0.433	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		243	2862	0	0	0	0.014410	0	243	2862				
IRAK3	11213	broad.mit.edu	37	12	66603284	66603284	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr12:66603284C>T	ENST00000261233.4	+	3	786	c.365C>T	c.(364-366)cCa>cTa	p.P122L	IRAK3_ENST00000457197.2_Missense_Mutation_p.P61L	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GGTGGATTTCCAAATATATTA	0.353																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(364-366)cCa>cTa		interleukin-1 receptor-associated kinase 3							113.0	120.0	117.0					12																	66603284		2203	4300	6503	SO:0001583	missense	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66603284C>T	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.365C>T	12.37:g.66603284C>T	ENSP00000261233:p.Pro122Leu					IRAK3_ENST00000457197.2_Missense_Mutation_p.P61L	p.P122L	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	3	786	+			122						Missense_Mutation	SNP	ENST00000261233.4	37	c.365C>T	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164326	0.38217	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.72282	-0.62;-0.64	5.23	3.41	0.39046	DEATH-like (1);	0.297825	0.31976	N	0.006770	T	0.65491	0.2696	L	0.27053	0.805	0.31752	N	0.634501	D;D	0.61080	0.989;0.966	P;P	0.55923	0.787;0.462	T	0.66870	-0.5814	9	.	.	.	-0.3205	7.5603	0.27847	0.0:0.8103:0.0:0.1897	.	61;122	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	L	122;61	ENSP00000261233:P122L;ENSP00000409852:P61L	.	P	+	2	0	IRAK3	64889551	0.715000	0.27946	0.158000	0.22627	0.012000	0.07955	1.142000	0.31540	0.783000	0.33636	0.655000	0.94253	CCA		0.353	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			21	53	0	0	0	0.014323	0	21	53				
HS3ST6	64711	broad.mit.edu	37	16	1961639	1961639	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:1961639G>A	ENST00000293937.3	-	2	980	c.981C>T	c.(979-981)ttC>ttT	p.F327F	HS3ST6_ENST00000443547.1_Silent_p.F296F|HS3ST6_ENST00000454677.2_Silent_p.F344F			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	327					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						ACCTGCGGTTGAAGGGCCGGT	0.701																																						ENST00000454677.2																			0				endometrium(2)|lung(2)	4						c.(1030-1032)ttC>ttT		heparan sulfate (glucosamine) 3-O-sulfotransferase 6							12.0	14.0	13.0					16																	1961639		2036	4200	6236	SO:0001819	synonymous_variant	64711							g.chr16:1961639G>A			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"""Sulfotransferases, membrane-bound"""	14178	protein-coding gene	gene with protein product			"""heparan sulfate (glucosamine) 3-O-sulfotransferase 5"""	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.981C>T	16.37:g.1961639G>A						HS3ST6_ENST00000293937.3_Silent_p.F327F|HS3ST6_ENST00000443547.1_Silent_p.F296F	p.F344F			C9JH64	C9JH64_HUMAN			2	1097	-			296					Q96RX7	Silent	SNP	ENST00000293937.3	37	c.1032C>T																																																																																					0.701	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606		9	5	0	0	0	0.004482	0	9	5				
ELOVL5	60481	broad.mit.edu	37	6	53138060	53138060	+	Silent	SNP	A	A	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:53138060A>G	ENST00000542638.1	-	6	1026	c.579T>C	c.(577-579)cgT>cgC	p.R193R	ELOVL5_ENST00000370918.4_Silent_p.R183R|ELOVL5_ENST00000541407.1_Silent_p.R220R|ELOVL5_ENST00000304434.6_Silent_p.R193R|ELOVL5_ENST00000486973.1_5'Flank			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	193				YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					AGAGGTATGGACGCATGGAAG	0.502																																						ENST00000542638.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(577-579)cgT>cgC		ELOVL fatty acid elongase 5							178.0	155.0	163.0					6																	53138060		2203	4300	6503	SO:0001819	synonymous_variant	60481				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:53138060A>G	AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"""ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"", ""spinocerebellar ataxia 38"""	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.579T>C	6.37:g.53138060A>G						ELOVL5_ENST00000304434.6_Silent_p.R193R|ELOVL5_ENST00000370918.4_Silent_p.R183R|ELOVL5_ENST00000541407.1_Silent_p.R220R	p.R193R			Q9NYP7	ELOV5_HUMAN			6	1026	-	Lung NSC(77;0.116)		193	YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035).				B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Silent	SNP	ENST00000542638.1	37	c.579T>C	CCDS4951.1																																																																																				0.502	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043566.1	NM_021814		3	119	0	0	0	0.009096	0	3	119				
PPP2R3B	28227	broad.mit.edu	37	X	299609	299609	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chrX:299609C>G	ENST00000390665.3	-	11	1392	c.1374G>C	c.(1372-1374)ctG>ctC	p.L458L		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	458					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCAGCGCTTCAGGTCCTGCA	0.622																																						ENST00000390665.3																			0				endometrium(5)|lung(5)|skin(1)	11						c.(1372-1374)ctG>ctC		protein phosphatase 2, regulatory subunit B'', beta							187.0	182.0	184.0					X																	299609		2200	4289	6489	SO:0001819	synonymous_variant	28227				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chrX:299609C>G	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1374G>C	X.37:g.299609C>G							p.L458L	NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN			11	1392	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	458					Q6P4G9|Q7RTT1|Q96H01	Silent	SNP	ENST00000390665.3	37	c.1374G>C	CCDS14104.1																																																																																				0.622	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		26	111	0	0	0	0.007291	0	26	111				
SGIP1	84251	broad.mit.edu	37	1	67109271	67109271	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:67109271G>A	ENST00000371037.4	+	7	405	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	SGIP1_ENST00000371035.3_Missense_Mutation_p.E67K|SGIP1_ENST00000371039.1_Missense_Mutation_p.E86K|SGIP1_ENST00000371036.3_Missense_Mutation_p.E85K|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Missense_Mutation_p.E114K	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	110	Poly-Glu.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATCGGAAGAAGAAGAAGAATC	0.343																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(328-330)Gaa>Aaa		SH3-domain GRB2-like (endophilin) interacting protein 1							85.0	86.0	86.0					1																	67109271		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67109271G>A	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.328G>A	1.37:g.67109271G>A	ENSP00000360076:p.Glu110Lys					SGIP1_ENST00000371035.3_Missense_Mutation_p.E67K|SGIP1_ENST00000371039.1_Missense_Mutation_p.E86K|SGIP1_ENST00000237247.6_Missense_Mutation_p.E114K|SGIP1_ENST00000371036.3_Missense_Mutation_p.E85K|SGIP1_ENST00000468286.1_3'UTR	p.E110K	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			7	405	+			110			Poly-Glu.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.328G>A	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084090	0.76642	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03035	4.07;4.07;4.07;4.07;4.07;4.07	5.3	5.3	0.74995	.	0.387803	0.30260	N	0.010038	T	0.11324	0.0276	M	0.64404	1.975	0.51233	D	0.999912	D	0.63880	0.993	D	0.70935	0.971	T	0.01657	-1.1302	10	0.62326	D	0.03	-4.648	19.3168	0.94218	0.0:0.0:1.0:0.0	.	110	Q9BQI5	SGIP1_HUMAN	K	114;86;110;67;113;113;85;110	ENSP00000237247:E114K;ENSP00000360078:E86K;ENSP00000410439:E110K;ENSP00000360074:E67K;ENSP00000360075:E85K;ENSP00000360076:E110K	ENSP00000237247:E114K	E	+	1	0	SGIP1	66881859	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.260000	0.95568	2.631000	0.89168	0.655000	0.94253	GAA		0.343	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		22	39	0	0	0	0.012319	0	22	39				
RASGRP2	10235	broad.mit.edu	37	11	64507521	64507521	+	Silent	SNP	G	G	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:64507521G>T	ENST00000354024.3	-	6	738	c.486C>A	c.(484-486)ctC>ctA	p.L162L	RASGRP2_ENST00000377494.1_Silent_p.L162L|RASGRP2_ENST00000394432.3_Silent_p.L162L|RASGRP2_ENST00000377497.3_Silent_p.L162L	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	162	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAAGTAGGTGAGATGCTCCG	0.607																																						ENST00000377494.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(484-486)ctC>ctA		RAS guanyl releasing protein 2 (calcium and DAG-regulated)							69.0	67.0	67.0					11																	64507521		2201	4297	6498	SO:0001819	synonymous_variant	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64507521G>T	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.486C>A	11.37:g.64507521G>T						RASGRP2_ENST00000377497.3_Silent_p.L162L|RASGRP2_ENST00000354024.3_Silent_p.L162L|RASGRP2_ENST00000394432.3_Silent_p.L162L	p.L162L			Q7LDG7	GRP2_HUMAN			5	1408	-			162			Ras-GEF.		A6NDC7|O00538|Q9UL65	Silent	SNP	ENST00000354024.3	37	c.486C>A	CCDS31598.1																																																																																				0.607	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		12	82	1	0	5.16669e-11	0.010729	5.45942e-11	12	82				
CEP250	11190	broad.mit.edu	37	20	34091370	34091370	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr20:34091370G>C	ENST00000397527.1	+	30	5893	c.5173G>C	c.(5173-5175)Gag>Cag	p.E1725Q	CEP250_ENST00000342580.4_Missense_Mutation_p.E1669Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1725	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CGGGAGCCTAGAGCACATGAA	0.577																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(5173-5175)Gag>Cag		centrosomal protein 250kDa							110.0	103.0	105.0					20																	34091370		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34091370G>C	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5173G>C	20.37:g.34091370G>C	ENSP00000380661:p.Glu1725Gln					CEP250_ENST00000342580.4_Missense_Mutation_p.E1669Q	p.E1725Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		30	5893	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1725			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.5173G>C	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763610	0.69878	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.62941	2.32;2.25;-0.01	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000010	T	0.71230	0.3315	L	0.34521	1.04	0.39574	D	0.969324	D	0.89917	1.0	D	0.91635	0.999	T	0.75991	-0.3122	10	0.72032	D	0.01	.	17.3447	0.87307	0.0:0.0:1.0:0.0	.	1725	Q9BV73	CP250_HUMAN	Q	1725;1669;213	ENSP00000380661:E1725Q;ENSP00000341541:E1669Q;ENSP00000395992:E213Q	ENSP00000341541:E1669Q	E	+	1	0	CEP250	33554784	1.000000	0.71417	0.970000	0.41538	0.950000	0.60333	4.702000	0.61817	2.430000	0.82344	0.455000	0.32223	GAG		0.577	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		56	92	0	0	0	0.014410	0	56	92				
PDS5A	23244	broad.mit.edu	37	4	39929692	39929692	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr4:39929692G>A	ENST00000303538.8	-	3	770	c.231C>T	c.(229-231)ttC>ttT	p.F77F	PDS5A_ENST00000503396.1_Silent_p.F77F	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TCCTGAGGAAGAATTCAGATG	0.423																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(229-231)ttC>ttT		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							99.0	94.0	96.0					4																	39929692		1923	4129	6052	SO:0001819	synonymous_variant	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39929692G>A	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.231C>T	4.37:g.39929692G>A						PDS5A_ENST00000503396.1_Silent_p.F77F	p.F77F	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			3	770	-			77						Silent	SNP	ENST00000303538.8	37	c.231C>T	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316894	0.23908	.	.	ENSG00000121892	ENST00000513798	.	.	.	5.66	2.76	0.32466	.	.	.	.	.	T	0.57301	0.2044	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48387	-0.9040	4	.	.	.	-11.721	8.1099	0.30909	0.2896:0.0:0.7104:0.0	.	.	.	.	F	12	.	.	S	-	2	0	PDS5A	39606087	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.474000	0.53129	0.223000	0.20920	-0.136000	0.14681	TCT		0.423	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		35	33	0	0	0	0.003755	0	35	33				
PAIP1	10605	broad.mit.edu	37	5	43539098	43539098	+	Silent	SNP	T	T	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:43539098T>C	ENST00000306846.3	-	5	1006	c.774A>G	c.(772-774)aaA>aaG	p.K258K	PAIP1_ENST00000436644.2_Silent_p.K179K|PAIP1_ENST00000338972.4_Silent_p.K146K|PAIP1_ENST00000514514.1_Silent_p.K179K	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	258	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CTTCATCCCCTTTTGCAGCTT	0.323																																						ENST00000306846.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(772-774)aaA>aaG		poly(A) binding protein interacting protein 1							150.0	143.0	145.0					5																	43539098		2203	4300	6503	SO:0001819	synonymous_variant	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43539098T>C	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.774A>G	5.37:g.43539098T>C						PAIP1_ENST00000338972.4_Silent_p.K146K|PAIP1_ENST00000514514.1_Silent_p.K179K|PAIP1_ENST00000436644.2_Silent_p.K179K	p.K258K	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN			5	1006	-	Lung NSC(6;2.07e-05)		258			MIF4G.		A6NKV8|O60455|Q96B61|Q9BS63	Silent	SNP	ENST00000306846.3	37	c.774A>G	CCDS3947.1																																																																																				0.323	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		3	171	0	0	0	0.009096	0	3	171				
ARHGEF9	23229	broad.mit.edu	37	X	62917013	62917013	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chrX:62917013G>C	ENST00000253401.6	-	4	1353	c.553C>G	c.(553-555)Cta>Gta	p.L185V	ARHGEF9_ENST00000374870.4_Missense_Mutation_p.L83V|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.L164V|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.L132V|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.L183V	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	185	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						ACGTGCTCTAGGAAGCAGGGT	0.458																																						ENST00000253401.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(553-555)Cta>Gta		Cdc42 guanine nucleotide exchange factor (GEF) 9							115.0	81.0	92.0					X																	62917013		2203	4299	6502	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62917013G>C	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.553C>G	X.37:g.62917013G>C	ENSP00000253401:p.Leu185Val					ARHGEF9_ENST00000374870.4_Missense_Mutation_p.L83V|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.L183V|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.L132V|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.L164V	p.L185V	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN			4	1353	-			185			DH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.553C>G	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804659	0.70682	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.65	4.78	0.61160	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000002	T	0.75752	0.3892	L	0.52759	1.655	0.54753	D	0.999986	D;D;D;D	0.89917	0.992;0.992;0.992;1.0	P;P;P;D	0.91635	0.891;0.891;0.891;0.999	T	0.74931	-0.3496	10	0.45353	T	0.12	.	11.7755	0.51983	0.0888:0.0:0.9112:0.0	.	132;183;185;185	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	V	185;183;132;83;164	ENSP00000253401:L185V;ENSP00000364012:L183V;ENSP00000399994:L132V;ENSP00000364004:L83V;ENSP00000364006:L164V	ENSP00000253401:L185V	L	-	1	2	ARHGEF9	62833738	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.999000	0.63934	1.120000	0.41904	0.513000	0.50165	CTA		0.458	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			16	2	0	0	0	0.004990	0	16	2				
C19orf71	100128569	broad.mit.edu	37	19	3542796	3542796	+	Intron	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:3542796C>G	ENST00000329493.5	+	2	107				AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Missense_Mutation_p.D534H|MFSD12_ENST00000389395.3_Intron	NM_001135580.1	NP_001129052.1	A6NCJ1	CS071_HUMAN	chromosome 19 open reading frame 71											endometrium(2)	2						GTCCCCCAGTCTTCCCTGGGC	0.612																																						ENST00000398558.4																			0				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						c.(1600-1602)Gac>Cac		major facilitator superfamily domain containing 12							27.0	30.0	29.0					19																	3542796		1920	4123	6043	SO:0001627	intron_variant	126321				transmembrane transport	integral to membrane		g.chr19:3542796C>G		CCDS45918.1	19p13.3	2012-10-26			ENSG00000183397	ENSG00000183397			34496	protein-coding gene	gene with protein product							Standard	NM_001135580		Approved	LOC100128569	uc010xhm.2	A6NCJ1		ENST00000329493.5:c.84-437C>G	19.37:g.3542796C>G						C19orf71_ENST00000329493.5_Intron|MFSD12_ENST00000389395.3_Intron	p.D534H	NM_021731.2	NP_068377.2	Q6NUT3	CS028_HUMAN			10	1599	-			0						Missense_Mutation	SNP	ENST00000329493.5	37	c.1600G>C	CCDS45918.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.596962	0.28445	.	.	ENSG00000161091	ENST00000398558	T	0.22539	1.95	1.22	1.22	0.21188	.	.	.	.	.	T	0.07773	0.0195	N	0.08118	0	0.09310	N	0.99999	P	0.44734	0.842	B	0.31390	0.129	T	0.19516	-1.0303	9	0.87932	D	0	.	5.7986	0.18401	0.0:1.0:0.0:0.0	.	534	A8MXP7	.	H	534	ENSP00000381566:D534H	ENSP00000381566:D534H	D	-	1	0	C19orf28	3493796	0.001000	0.12720	0.001000	0.08648	0.013000	0.08279	1.806000	0.38892	0.952000	0.37798	0.467000	0.42956	GAC		0.612	C19orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452943.1	NM_001135580		11	19	0	0	0	0.008291	0	11	19				
CEP250	11190	broad.mit.edu	37	20	34090860	34090860	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr20:34090860C>G	ENST00000397527.1	+	30	5383	c.4663C>G	c.(4663-4665)Ctg>Gtg	p.L1555V	CEP250_ENST00000342580.4_Missense_Mutation_p.L1499V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1555	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GTTGGTTACTCTGGAATGCCT	0.498																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(4663-4665)Ctg>Gtg		centrosomal protein 250kDa							64.0	66.0	65.0					20																	34090860		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34090860C>G	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.4663C>G	20.37:g.34090860C>G	ENSP00000380661:p.Leu1555Val					CEP250_ENST00000342580.4_Missense_Mutation_p.L1499V	p.L1555V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		30	5383	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1555			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.4663C>G	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	6.467	0.454388	0.12283	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.57436	2.76;2.76;0.4	4.36	3.4	0.38934	.	0.687170	0.12731	N	0.443863	T	0.48187	0.1486	M	0.72118	2.19	0.09310	N	1	P	0.43477	0.808	B	0.41571	0.36	T	0.40459	-0.9562	10	0.31617	T	0.26	.	4.0277	0.09695	0.1755:0.5806:0.1554:0.0885	.	1555	Q9BV73	CP250_HUMAN	V	1555;1499;43	ENSP00000380661:L1555V;ENSP00000341541:L1499V;ENSP00000395992:L43V	ENSP00000341541:L1499V	L	+	1	2	CEP250	33554274	0.667000	0.27484	0.865000	0.33974	0.955000	0.61496	1.078000	0.30754	1.037000	0.40024	0.561000	0.74099	CTG		0.498	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		27	82	0	0	0	0.013726	0	27	82				
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	RNA	SNP	C	C	T	rs143443709		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr9:141070139C>T	ENST00000503395.1	+	0	1219									tubulin, beta pseudogene 5									p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667																																						ENST00000503395.1																			2	Substitution - Missense(2)	p.L85F(2)	urinary_tract(1)|prostate(1)																																																643224							g.chr9:141070139C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070139C>T														0	1219	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.667	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		7	118	0	0	0	0.004482	0	7	118				
MAP3K19	80122	broad.mit.edu	37	2	135744048	135744048	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:135744048C>G	ENST00000375845.3	-	7	2424	c.2394G>C	c.(2392-2394)caG>caC	p.Q798H	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q815H|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.Q685H	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	798							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GGAATTCATTCTGTTTCATGG	0.393																																						ENST00000375845.3																			0											c.(2392-2394)caG>caC		mitogen-activated protein kinase kinase kinase 19							68.0	67.0	67.0					2																	135744048		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135744048C>G	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2394G>C	2.37:g.135744048C>G	ENSP00000365005:p.Gln798His					MAP3K19_ENST00000358371.4_Missense_Mutation_p.Q685H|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q815H|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron	p.Q798H	NM_025052.3	NP_079328.3					7	2424	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.2394G>C	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356835	0.24598	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.74842	-0.87;-0.82;1.49;-0.88	4.87	3.97	0.46021	.	0.157345	0.30060	N	0.010519	T	0.65801	0.2726	L	0.47190	1.495	0.80722	D	1	B;D;B	0.55385	0.368;0.971;0.405	B;P;B	0.45406	0.15;0.479;0.199	T	0.66594	-0.5884	10	0.59425	D	0.04	.	3.7799	0.08676	0.0:0.5673:0.2282:0.2045	.	685;815;798	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	H	798;685;815;188	ENSP00000365005:Q798H;ENSP00000351140:Q685H;ENSP00000376647:Q815H;ENSP00000392827:Q188H	ENSP00000351140:Q685H	Q	-	3	2	YSK4	135460518	1.000000	0.71417	0.843000	0.33291	0.042000	0.13812	1.556000	0.36288	1.226000	0.43582	0.462000	0.41574	CAG		0.393	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		21	70	0	0	0	0.014323	0	21	70				
OR1A2	26189	broad.mit.edu	37	17	3101343	3101343	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:3101343C>T	ENST00000381951.1	+	1	531	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	177					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TAGCCAATTTCTACTGTGACA	0.473																																						ENST00000381951.1																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						c.(529-531)ttC>ttT		olfactory receptor, family 1, subfamily A, member 2							162.0	133.0	143.0					17																	3101343		2203	4300	6503	SO:0001819	synonymous_variant	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101343C>T	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.531C>T	17.37:g.3101343C>T							p.F177F	NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN			1	531	+			177					Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Silent	SNP	ENST00000381951.1	37	c.531C>T	CCDS11021.1																																																																																				0.473	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		57	93	0	0	0	0.014410	0	57	93				
KIAA0100	9703	broad.mit.edu	37	17	26965349	26965349	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:26965349G>A	ENST00000528896.2	-	13	1507	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S335F|KIAA0100_ENST00000389003.3_Missense_Mutation_p.S335F	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	478						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTGAATGTGGGAGTCACTGCC	0.562																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(1432-1434)tCc>tTc		KIAA0100							62.0	59.0	60.0					17																	26965349		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26965349G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.1433C>T	17.37:g.26965349G>A	ENSP00000436773:p.Ser478Phe					KIAA0100_ENST00000389003.3_Missense_Mutation_p.S335F|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S335F	p.S478F	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			13	1507	-	Lung NSC(42;0.00431)		478					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.1433C>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963514	0.92791	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.27104	1.72;1.69	5.83	5.83	0.93111	FMP27, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.27839	-1.0062	10	0.66056	D	0.02	.	20.1374	0.98035	0.0:0.0:1.0:0.0	.	478	Q14667	K0100_HUMAN	F	478;478;478;335	ENSP00000436773:S478F;ENSP00000446443:S335F	ENSP00000005905:S478F	S	-	2	0	KIAA0100	23989476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.383000	0.97214	2.763000	0.94921	0.563000	0.77884	TCC		0.562	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		28	42	0	0	0	0.006320	0	28	42				
ZNF211	10520	broad.mit.edu	37	19	58146057	58146057	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:58146057G>C	ENST00000347302.3	+	2	330	c.151G>C	c.(151-153)Gat>Cat	p.D51H	ZNF211_ENST00000240731.4_Missense_Mutation_p.D64H|ZNF211_ENST00000544273.1_Missense_Mutation_p.D63H|ZNF211_ENST00000254182.7_5'UTR|ZNF211_ENST00000299871.5_Missense_Mutation_p.D64H|ZNF211_ENST00000541801.1_5'UTR|ZNF211_ENST00000391703.3_5'UTR|ZNF211_ENST00000420680.1_Missense_Mutation_p.D55H	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	51	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGATCTCCTTGATGAGGCTCA	0.498																																						ENST00000544273.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(187-189)Gat>Cat		zinc finger protein 211							315.0	262.0	280.0					19																	58146057		2203	4300	6503	SO:0001583	missense	10520					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58146057G>C	U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.151G>C	19.37:g.58146057G>C	ENSP00000339562:p.Asp51His					ZNF211_ENST00000391703.3_5'UTR|ZNF211_ENST00000347302.3_Missense_Mutation_p.D51H|ZNF211_ENST00000240731.4_Missense_Mutation_p.D64H|ZNF211_ENST00000254182.7_5'UTR|ZNF211_ENST00000420680.1_Missense_Mutation_p.D55H|ZNF211_ENST00000541801.1_5'UTR|ZNF211_ENST00000299871.5_Missense_Mutation_p.D64H	p.D63H			Q13398	ZN211_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	514	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	51			KRAB.		B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	ENST00000347302.3	37	c.187G>C	CCDS12957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.23|14.23	2.473009|2.473009	0.43942|0.43942	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T|.	0.02763|.	4.17;4.17;4.17;4.17;4.17|.	2.66|2.66	1.6|1.6	0.23607|0.23607	Krueppel-associated box (4);|.	.|.	.|.	.|.	.|.	T|.	0.56731|.	0.2005|.	M|M	0.85777|0.85777	2.775|2.775	0.20074|0.20074	N|N	0.999933|0.999933	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.973;0.997;0.999;0.998;0.984|.	T|.	0.51403|.	-0.8710|.	9|.	0.51188|.	T|.	0.08|.	.|.	4.7685|4.7685	0.13144|0.13144	0.3127:0.0:0.6873:0.0|0.3127:0.0:0.6873:0.0	.|.	55;63;64;51;64|.	Q13398-4;Q13398-3;F8WDV2;Q13398;B9ZVW1|.	.;.;.;ZN211_HUMAN;.|.	H|S	55;51;64;63;64|54	ENSP00000399193:D55H;ENSP00000339562:D51H;ENSP00000299871:D64H;ENSP00000441386:D63H;ENSP00000240731:D64H|.	ENSP00000240731:D64H|.	D|X	+|+	1|2	0|2	ZNF211|ZNF211	62837869|62837869	0.444000|0.444000	0.25649|0.25649	0.990000|0.990000	0.47175|0.47175	0.899000|0.899000	0.52679|0.52679	1.538000|1.538000	0.36094|0.36094	0.451000|0.451000	0.26802|0.26802	0.313000|0.313000	0.20887|0.20887	GAT|TGA		0.498	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397502.1			4	127	0	0	0	0.000602	0	4	127				
RLF	6018	broad.mit.edu	37	1	40627251	40627251	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:40627251G>A	ENST00000372771.4	+	1	207	c.180G>A	c.(178-180)ctG>ctA	p.L60L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	60					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGACAGAGCTGAGGGAGCAAG	0.657																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(178-180)ctG>ctA		rearranged L-myc fusion							64.0	69.0	68.0					1																	40627251		2203	4300	6503	SO:0001819	synonymous_variant	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40627251G>A		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.180G>A	1.37:g.40627251G>A							p.L60L	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		1	207	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	60					Q14CQ1|Q9NU60	Silent	SNP	ENST00000372771.4	37	c.180G>A	CCDS448.1																																																																																				0.657	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		32	43	0	0	0	0.005524	0	32	43				
BIRC2	329	broad.mit.edu	37	11	102233700	102233700	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:102233700G>C	ENST00000227758.2	+	4	2468	c.1069G>C	c.(1069-1071)Gaa>Caa	p.E357Q	BIRC2_ENST00000532672.1_Missense_Mutation_p.E336Q|BIRC2_ENST00000530675.1_Missense_Mutation_p.E308Q|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	357					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TCATCTTCTTGAACAGGTAAA	0.279																																						ENST00000227758.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1069-1071)Gaa>Caa		baculoviral IAP repeat containing 2							72.0	74.0	74.0					11																	102233700		2202	4298	6500	SO:0001583	missense	329				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102233700G>C	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.1069G>C	11.37:g.102233700G>C	ENSP00000227758:p.Glu357Gln					BIRC2_ENST00000532672.1_Missense_Mutation_p.E336Q|BIRC2_ENST00000530675.1_Missense_Mutation_p.E308Q|BIRC2_ENST00000527910.1_3'UTR	p.E357Q	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)	4	2468	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	357					B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	c.1069G>C	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616427	0.87359	.	.	ENSG00000110330	ENST00000530675;ENST00000533742;ENST00000227758;ENST00000541741;ENST00000532672	T;T;T;T	0.23147	1.93;2.85;1.92;1.93	5.16	5.16	0.70880	.	0.044146	0.85682	D	0.000000	T	0.34687	0.0906	M	0.83483	2.645	0.58432	D	0.999997	P	0.37122	0.583	B	0.32533	0.147	T	0.37596	-0.9699	10	0.49607	T	0.09	-31.1918	17.7848	0.88534	0.0:0.0:1.0:0.0	.	357	Q13490	BIRC2_HUMAN	Q	308;19;357;357;336	ENSP00000431723:E308Q;ENSP00000433851:E19Q;ENSP00000227758:E357Q;ENSP00000434979:E336Q	ENSP00000227758:E357Q	E	+	1	0	BIRC2	101738910	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.292000	0.78731	2.568000	0.86640	0.561000	0.74099	GAA		0.279	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		8	184	0	0	0	0.004482	0	8	184				
ZNF608	57507	broad.mit.edu	37	5	123974878	123974878	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:123974878G>C	ENST00000306315.5	-	8	4915	c.4480C>G	c.(4480-4482)Cag>Gag	p.Q1494E	ZNF608_ENST00000504926.1_Missense_Mutation_p.Q1067E|ZNF608_ENST00000513985.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1494							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCACCTGCTGAGAGGCAACA	0.423																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(4480-4482)Cag>Gag		zinc finger protein 608							66.0	70.0	69.0					5																	123974878		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123974878G>C	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.4480C>G	5.37:g.123974878G>C	ENSP00000307746:p.Gln1494Glu					ZNF608_ENST00000504926.1_Missense_Mutation_p.Q1067E|ZNF608_ENST00000513985.1_5'UTR	p.Q1494E	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	8	4915	-		all_cancers(142;0.186)|Prostate(80;0.081)	1494					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.4480C>G	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727511	0.89390	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.56941	0.43;0.51	6.0	6.0	0.97389	.	0.127237	0.53938	D	0.000042	T	0.73544	0.3600	M	0.71036	2.16	0.46954	D	0.999264	P	0.52577	0.954	D	0.67900	0.954	T	0.73385	-0.3999	10	0.72032	D	0.01	-22.4778	20.5062	0.99209	0.0:0.0:1.0:0.0	.	1494	Q9ULD9	ZN608_HUMAN	E	1067;1494	ENSP00000427657:Q1067E;ENSP00000307746:Q1494E	ENSP00000307746:Q1494E	Q	-	1	0	ZNF608	124002777	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.553000	0.82203	2.841000	0.97950	0.637000	0.83480	CAG		0.423	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		16	31	0	0	0	0.008871	0	16	31				
MDGA2	161357	broad.mit.edu	37	14	47426688	47426688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:47426688G>A	ENST00000399232.2	-	9	2135	c.1771C>T	c.(1771-1773)Cag>Tag	p.Q591*	MDGA2_ENST00000357362.3_Nonsense_Mutation_p.Q362*|MDGA2_ENST00000426342.1_Nonsense_Mutation_p.Q362*|MDGA2_ENST00000439988.3_Nonsense_Mutation_p.Q660*|SNORA25_ENST00000515926.1_RNA	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	591	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTGTATTCCTGAGAGTCAAAT	0.448																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1084-1086)Cag>Tag		MAM domain containing glycosylphosphatidylinositol anchor 2							100.0	98.0	98.0					14																	47426688		1909	4132	6041	SO:0001587	stop_gained	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426688G>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1771C>T	14.37:g.47426688G>A	ENSP00000382178:p.Gln591*					MDGA2_ENST00000439988.2_Nonsense_Mutation_p.Q591*|MDGA2_ENST00000399232.2_Nonsense_Mutation_p.Q660*|MDGA2_ENST00000357362.3_Nonsense_Mutation_p.Q362*	p.Q362*	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			9	1830	-			591			Ig-like 4.		F6W3S7|J3KPX6	Nonsense_Mutation	SNP	ENST00000399232.2	37	c.1084C>T		.	.	.	.	.	.	.	.	.	.	G	44	10.994388	0.99500	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	.	.	.	5.54	5.54	0.83059	.	0.000000	0.49916	U	0.000122	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	18.0469	0.89335	0.0:0.0:1.0:0.0	.	.	.	.	X	591;362;660;362	.	ENSP00000349925:Q362X	Q	-	1	0	MDGA2	46496438	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.080000	0.94040	2.606000	0.88127	0.650000	0.86243	CAG		0.448	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		39	67	0	0	0	0.010771	0	39	67				
NCAN	1463	broad.mit.edu	37	19	19356217	19356217	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:19356217C>T	ENST00000252575.6	+	13	3687	c.3588C>T	c.(3586-3588)aaC>aaT	p.N1196N	NCAN_ENST00000538881.1_Silent_p.N647N	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1196	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GGCGCTGGAACGATGTCCCCT	0.552																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3586-3588)aaC>aaT		neurocan							136.0	116.0	123.0					19																	19356217		2203	4300	6503	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19356217C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3588C>T	19.37:g.19356217C>T						NCAN_ENST00000538881.1_Silent_p.N647N	p.N1196N	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		13	3631	+			1196			C-type lectin.		Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.3588C>T	CCDS12397.1																																																																																				0.552	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		21	56	0	0	0	0.002780	0	21	56				
DBI	1622	broad.mit.edu	37	2	120128369	120128369	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:120128369G>A	ENST00000355857.3	+	3	312	c.181G>A	c.(181-183)Gag>Aag	p.E61K	DBI_ENST00000542275.1_Missense_Mutation_p.E122K|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000409094.1_Missense_Mutation_p.E78K|DBI_ENST00000535617.1_Missense_Mutation_p.E103K|DBI_ENST00000311521.4_Missense_Mutation_p.E78K|DBI_ENST00000535757.1_Missense_Mutation_p.E78K|DBI_ENST00000393103.2_Missense_Mutation_p.E62K	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	61	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						TGCCTGGAATGAGCTGAAAGG	0.418																																						ENST00000542275.1																			0				kidney(1)|lung(4)|skin(1)	6						c.(364-366)Gag>Aag		diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)							74.0	73.0	73.0					2																	120128369		2203	4300	6503	SO:0001583	missense	1622				transport		benzodiazepine receptor binding|fatty-acyl-CoA binding	g.chr2:120128369G>A	L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"""endozepine"""	125950	"""diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"""			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.181G>A	2.37:g.120128369G>A	ENSP00000348116:p.Glu61Lys					DBI_ENST00000311521.4_Missense_Mutation_p.E78K|DBI_ENST00000535617.1_Missense_Mutation_p.E103K|DBI_ENST00000409094.1_Missense_Mutation_p.E78K|DBI_ENST00000393103.2_Missense_Mutation_p.E62K|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000535757.1_Missense_Mutation_p.E78K|DBI_ENST00000355857.3_Missense_Mutation_p.E61K	p.E122K	NM_001178017.1	NP_001171488.1	P07108	ACBP_HUMAN			3	448	+			61					B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Missense_Mutation	SNP	ENST00000355857.3	37	c.364G>A	CCDS42740.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244003	0.22796	.	.	ENSG00000155368	ENST00000355857;ENST00000535617;ENST00000535757;ENST00000409094;ENST00000311521;ENST00000542275;ENST00000393103	T;T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04;2.04	5.09	-1.31	0.09230	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (3);	0.823455	0.10966	N	0.614438	T	0.04724	0.0128	N	0.01197	-0.965	0.09310	N	1	B;B;B;B;B	0.14438	0.0;0.01;0.003;0.002;0.0	B;B;B;B;B	0.15052	0.006;0.012;0.006;0.01;0.002	T	0.40924	-0.9537	10	0.02654	T	1	-11.9047	4.7313	0.12966	0.0865:0.497:0.2096:0.2069	.	71;103;62;78;61	B8ZWD1;B8ZWD7;P07108-3;B8ZWD2;P07108	.;.;.;.;ACBP_HUMAN	K	61;103;78;78;78;122;62	ENSP00000348116:E61K;ENSP00000442917:E103K;ENSP00000439012:E78K;ENSP00000386486:E78K;ENSP00000311117:E78K;ENSP00000440698:E122K;ENSP00000376815:E62K	ENSP00000311117:E78K	E	+	1	0	DBI	119844839	0.000000	0.05858	0.986000	0.45419	0.999000	0.98932	0.264000	0.18497	-0.034000	0.13713	0.655000	0.94253	GAG		0.418	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330590.1	NM_020548		14	27	0	0	0	0.003163	0	14	27				
KRT37	8688	broad.mit.edu	37	17	39580799	39580799	+	5'Flank	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:39580799G>C	ENST00000225550.3	-	0	0				AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37							extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GGCTGCACAGGAGCTTCAGAT	0.572																																						ENST00000432258.1																			0																				41.0	45.0	43.0					17																	39580799		2201	4300	6501	SO:0001631	upstream_gene_variant	100505782							g.chr17:39580799G>C	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606		17.37:g.39580799G>C	Exception_encountered													0	3388	+									RNA	SNP	ENST00000225550.3	37		CCDS32653.1																																																																																				0.572	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		4	108	0	0	0	0.009096	0	4	108				
KIAA1467	57613	broad.mit.edu	37	12	13221564	13221564	+	Splice_Site	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr12:13221564C>T	ENST00000197268.8	+	9	1407	c.1287C>T	c.(1285-1287)agC>agT	p.S429S		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	429						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TTATTTGCAGCCAGCCTACTC	0.418																																						ENST00000197268.8																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.e9-1		KIAA1467							162.0	151.0	155.0					12																	13221564		2203	4300	6503	SO:0001630	splice_region_variant	57613					integral to membrane		g.chr12:13221564C>T	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1287-1C>T	12.37:g.13221564C>T							p.S429_splice	NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	9	1407	+		Prostate(47;0.184)	429					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Splice_Site	SNP	ENST00000197268.8	37	c.1286_splice	CCDS31750.1																																																																																				0.418	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853	Silent	39	72	0	0	0	0.010771	0	39	72				
DHX40	79665	broad.mit.edu	37	17	57679960	57679960	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:57679960C>T	ENST00000251241.4	+	15	2031	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F	DHX40_ENST00000451169.2_Silent_p.F580F|DHX40_ENST00000425628.3_Silent_p.F551F	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	628							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CGGGCTATTTCAAAAATGTAG	0.328																																						ENST00000451169.2																			0				endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20						c.(1738-1740)ttC>ttT		DEAH (Asp-Glu-Ala-His) box polypeptide 40							66.0	70.0	69.0					17																	57679960		2203	4300	6503	SO:0001819	synonymous_variant	79665						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:57679960C>T	AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.1884C>T	17.37:g.57679960C>T						DHX40_ENST00000251241.4_Silent_p.F628F|DHX40_ENST00000425628.3_Silent_p.F551F	p.F580F			Q8IX18	DHX40_HUMAN			18	2099	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		628					B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Silent	SNP	ENST00000251241.4	37	c.1740C>T	CCDS11617.1																																																																																				0.328	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612		5	73	0	0	0	0.000602	0	5	73				
TGFBRAP1	9392	broad.mit.edu	37	2	105912815	105912815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:105912815G>A	ENST00000393359.2	-	4	1462	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*	TGFBRAP1_ENST00000258449.1_Nonsense_Mutation_p.Q346*			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	346					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TTACAAACCTGAAATTTTTCC	0.428																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1036-1038)Cag>Tag		transforming growth factor, beta receptor associated protein 1							87.0	90.0	89.0					2																	105912815		2203	4300	6503	SO:0001587	stop_gained	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105912815G>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1036C>T	2.37:g.105912815G>A	ENSP00000377027:p.Gln346*					TGFBRAP1_ENST00000258449.1_Nonsense_Mutation_p.Q346*	p.Q346*			Q8WUH2	TGFA1_HUMAN			4	1462	-			346					A8K5R7|D3DVJ8|O60466	Nonsense_Mutation	SNP	ENST00000393359.2	37	c.1036C>T	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	G	43	10.064956	0.99329	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-34.1966	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	X	346	.	ENSP00000258449:Q346X	Q	-	1	0	TGFBRAP1	105279247	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.162000	0.94745	2.793000	0.96121	0.655000	0.94253	CAG		0.428	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		37	74	0	0	0	0.010771	0	37	74				
DPEP2	64174	broad.mit.edu	37	16	68025794	68025794	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:68025794G>C	ENST00000572888.1	-	4	1259	c.609C>G	c.(607-609)ttC>ttG	p.F203L	DPEP2_ENST00000393847.1_Missense_Mutation_p.F203L|DPEP2_ENST00000412757.2_Missense_Mutation_p.F203L			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	203					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CCAGCATGTAGAAGGTAGGTA	0.592																																						ENST00000412757.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17						c.(607-609)ttC>ttG		dipeptidase 2							128.0	111.0	117.0					16																	68025794		2198	4300	6498	SO:0001583	missense	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68025794G>C	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.609C>G	16.37:g.68025794G>C	ENSP00000458977:p.Phe203Leu					DPEP2_ENST00000572888.1_Missense_Mutation_p.F203L|DPEP2_ENST00000393847.1_Missense_Mutation_p.F203L	p.F203L			Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	6	1274	-		Ovarian(137;0.192)	203					B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	c.609C>G	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926877	0.34002	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	T;T	0.23754	1.89;1.89	4.78	3.82	0.43975	.	0.055401	0.64402	D	0.000001	T	0.24699	0.0599	N	0.26092	0.79	0.80722	D	1	B;B	0.27351	0.176;0.146	P;B	0.44647	0.456;0.174	T	0.09907	-1.0653	10	0.15499	T	0.54	-24.2609	9.2176	0.37358	0.1757:0.0:0.8243:0.0	.	203;116	Q9H4A9;Q9H4A9-2	DPEP2_HUMAN;.	L	203;203;116	ENSP00000377430:F203L;ENSP00000412549:F203L	ENSP00000314702:F116L	F	-	3	2	DPEP2	66583295	0.996000	0.38824	0.946000	0.38457	0.481000	0.33189	0.326000	0.19646	1.387000	0.46486	0.561000	0.74099	TTC		0.592	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		28	58	0	0	0	0.007291	0	28	58				
ADAMTSL4	54507	broad.mit.edu	37	1	150525982	150525982	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:150525982G>A	ENST00000369038.2	+	4	716	c.515G>A	c.(514-516)cGc>cAc	p.R172H	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R172H|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R172H|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R172H			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	172					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CACCGGAACCGCAGGCACCCT	0.577																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(514-516)cGc>cAc		ADAMTS-like 4							100.0	101.0	101.0					1																	150525982		2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150525982G>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.515G>A	1.37:g.150525982G>A	ENSP00000358034:p.Arg172His					ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R172H|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R172H|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R172H|RP11-54A4.2_ENST00000442435.2_RNA	p.R172H	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		6	751	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		172					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.515G>A	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615677	0.66672	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000369039;ENST00000369038	T;T;T;T	0.62364	0.12;0.03;0.31;0.03	4.45	4.45	0.53987	.	.	.	.	.	T	0.51109	0.1655	L	0.44542	1.39	0.28781	N	0.899816	D;P;P;P	0.53151	0.958;0.938;0.776;0.938	B;B;B;P	0.51135	0.271;0.365;0.201;0.66	T	0.47787	-0.9090	9	0.56958	D	0.05	.	12.6528	0.56772	0.0:0.0:1.0:0.0	.	172;172;172;172	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	H	172	ENSP00000358037:R172H;ENSP00000271643:R172H;ENSP00000358035:R172H;ENSP00000358034:R172H	ENSP00000271643:R172H	R	+	2	0	ADAMTSL4	148792606	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.693000	0.61753	2.048000	0.60808	0.536000	0.68110	CGC		0.577	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		5	153	0	0	0	0.001168	0	5	153				
ARHGAP32	9743	broad.mit.edu	37	11	128844701	128844701	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:128844701C>T	ENST00000310343.9	-	20	2348	c.2349G>A	c.(2347-2349)ttG>ttA	p.L783L	ARHGAP32_ENST00000392657.3_Silent_p.L434L|ARHGAP32_ENST00000524655.1_Silent_p.L709L|ARHGAP32_ENST00000527272.1_Silent_p.L434L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	783					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGGTGGGCTCAAGTCAACAT	0.483																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(2347-2349)ttG>ttA		Rho GTPase activating protein 32							70.0	65.0	66.0					11																	128844701		2201	4297	6498	SO:0001819	synonymous_variant	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128844701C>T	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2349G>A	11.37:g.128844701C>T						ARHGAP32_ENST00000392657.3_Silent_p.L434L|ARHGAP32_ENST00000524655.1_Silent_p.L709L|ARHGAP32_ENST00000527272.1_Silent_p.L434L	p.L783L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			20	2348	-			783					I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	ENST00000310343.9	37	c.2349G>A	CCDS44769.1																																																																																				0.483	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		25	10	0	0	0	0.003330	0	25	10				
ITFG3	83986	broad.mit.edu	37	16	312520	312520	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:312520C>G	ENST00000399932.3	+	8	1390	c.939C>G	c.(937-939)ctC>ctG	p.L313L	ITFG3_ENST00000442458.2_Silent_p.L313L|ITFG3_ENST00000301679.2_Silent_p.L313L|ITFG3_ENST00000450082.2_Silent_p.L313L|ITFG3_ENST00000600536.1_Silent_p.L313L|ITFG3_ENST00000301678.3_Silent_p.L313L	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	313						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				AGAGCATGCTCAATGCCACCA	0.652																																						ENST00000399932.3																			0				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(937-939)ctC>ctG		integrin alpha FG-GAP repeat containing 3							45.0	54.0	51.0					16																	312520		2007	4185	6192	SO:0001819	synonymous_variant	83986					integral to membrane		g.chr16:312520C>G	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.939C>G	16.37:g.312520C>G						ITFG3_ENST00000301678.3_Silent_p.L313L|ITFG3_ENST00000301679.2_Silent_p.L313L|ITFG3_ENST00000442458.2_Silent_p.L313L|ITFG3_ENST00000600536.1_Silent_p.L313L|ITFG3_ENST00000450082.2_Silent_p.L313L	p.L313L			Q9H0X4	ITFG3_HUMAN			8	1390	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	313					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Silent	SNP	ENST00000399932.3	37	c.939C>G	CCDS10402.1	.	.	.	.	.	.	.	.	.	.	C	4.862	0.160152	0.09287	.	.	ENSG00000167930	ENST00000424016	.	.	.	5.1	-1.35	0.09114	.	.	.	.	.	.	.	.	.	.	.	0.20196	N	0.999929	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.9384	5.6174	0.17438	0.0:0.2916:0.4878:0.2206	.	.	.	.	X	5	.	.	S	+	2	0	ITFG3	252521	0.000000	0.05858	0.003000	0.11579	0.057000	0.15508	-1.281000	0.02802	-0.017000	0.14103	0.561000	0.74099	TCA		0.652	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		25	38	0	0	0	0.004656	0	25	38				
ERCC3	2071	broad.mit.edu	37	2	128038127	128038127	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:128038127C>G	ENST00000285398.2	-	9	1517	c.1423G>C	c.(1423-1425)Gac>Cac	p.D475H	ERCC3_ENST00000493187.2_Missense_Mutation_p.D411H	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	475	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACAATTTTGTCATCTTCGCGG	0.507			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""Mis, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(1231-1233)Gac>Cac	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3							70.0	64.0	66.0					2																	128038127		2203	4300	6503	SO:0001583	missense	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128038127C>G	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1423G>C	2.37:g.128038127C>G	ENSP00000285398:p.Asp475His					ERCC3_ENST00000285398.2_Missense_Mutation_p.D475H	p.D411H			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	9	1694	-	Colorectal(110;0.1)		475			Helicase ATP-binding.		Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	c.1231G>C	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	c	18.32	3.597270	0.66332	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.39229	1.09;1.09	5.6	5.6	0.85130	DEAD-like helicase (2);	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	M	0.87269	2.87	0.80722	D	1	P	0.36683	0.565	B	0.36885	0.235	T	0.64037	-0.6501	10	0.87932	D	0	-34.1037	19.6423	0.95763	0.0:1.0:0.0:0.0	.	475	P19447	ERCC3_HUMAN	H	475;411	ENSP00000285398:D475H;ENSP00000444796:D411H	ENSP00000285398:D475H	D	-	1	0	ERCC3	127754597	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	7.808000	0.86044	2.636000	0.89361	0.645000	0.84053	GAC		0.507	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		17	45	0	0	0	0.004990	0	17	45				
TTN	7273	broad.mit.edu	37	2	179458787	179458787	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:179458787C>G	ENST00000591111.1	-	247	53634	c.53410G>C	c.(53410-53412)Gag>Cag	p.E17804Q	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10505Q|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E10572Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E10380Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E19445Q|TTN_ENST00000342992.6_Missense_Mutation_p.E16877Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17804	Ig-like 104.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATCTTCTCTAAAGCAAGT	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(58333-58335)Gag>Cag		titin							174.0	167.0	169.0					2																	179458787		2009	4190	6199	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458787C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53410G>C	2.37:g.179458787C>G	ENSP00000465570:p.Glu17804Gln					TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10505Q|TTN_ENST00000342992.6_Missense_Mutation_p.E16877Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E10572Q|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E10380Q|TTN_ENST00000591111.1_Missense_Mutation_p.E17804Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.E19445Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		297	58557	-			17804			Fibronectin type-III 41.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.58333G>C		.	.	.	.	.	.	.	.	.	.	C	14.72	2.618493	0.46736	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	6.17	5.29	0.74685	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54175	0.1842	N	0.14661	0.345	0.25917	N	0.983164	B;B;B;B	0.30937	0.301;0.301;0.301;0.301	B;B;B;B	0.33254	0.16;0.16;0.16;0.16	T	0.55528	-0.8127	9	0.87932	D	0	.	15.01	0.71542	0.0:0.9327:0.0:0.0673	.	10380;10505;10572;17804	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	16877;10380;10572;10505;10378	ENSP00000343764:E16877Q;ENSP00000434586:E10380Q;ENSP00000340554:E10572Q;ENSP00000352154:E10505Q	ENSP00000340554:E10572Q	E	-	1	0	TTN	179167033	0.863000	0.29885	0.979000	0.43373	0.976000	0.68499	1.915000	0.39976	2.941000	0.99782	0.655000	0.94253	GAG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		60	112	0	0	0	0.014410	0	60	112				
RP11-383M4.6	0	broad.mit.edu	37	9	84549692	84549692	+	lincRNA	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr9:84549692C>T	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA																							CCATGCCCCACAGGGATCCTG	0.498																																						ENST00000585776.1																			0																																																			0							g.chr9:84549692C>T																													9.37:g.84549692C>T						SPATA31D4_ENST00000341875.4_RNA								0	1039	-									RNA	SNP	ENST00000585776.1	37																																																																																						0.498	RP11-383M4.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453562.1			7	29	0	0	0	0.008291	0	7	29				
IGSF10	285313	broad.mit.edu	37	3	151155107	151155107	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:151155107C>G	ENST00000282466.3	-	6	7241	c.7242G>C	c.(7240-7242)agG>agC	p.R2414S	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2414	Ig-like C2-type 10.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAACTTTATTCCTAGCTGCAC	0.393																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(7240-7242)agG>agC		immunoglobulin superfamily, member 10							105.0	107.0	106.0					3																	151155107		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151155107C>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7242G>C	3.37:g.151155107C>G	ENSP00000282466:p.Arg2414Ser					IGSF10_ENST00000495443.1_5'UTR	p.R2414S	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	7241	-			2414			Ig-like C2-type 10.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.7242G>C	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877400	0.51801	.	.	ENSG00000152580	ENST00000282466	T	0.65732	-0.17	5.56	-2.47	0.06442	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.126832	0.35235	N	0.003356	T	0.54902	0.1887	L	0.31804	0.96	0.27059	N	0.963596	D;P	0.53462	0.96;0.853	P;B	0.57009	0.811;0.392	T	0.56780	-0.7922	10	0.19590	T	0.45	.	10.1421	0.42740	0.0:0.5009:0.1074:0.3918	.	2414;441	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	S	2414	ENSP00000282466:R2414S	ENSP00000282466:R2414S	R	-	3	2	IGSF10	152637797	0.203000	0.23435	0.066000	0.19879	0.937000	0.57800	0.053000	0.14184	-0.347000	0.08299	-0.302000	0.09304	AGG		0.393	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		62	131	0	0	0	0.014410	0	62	131				
TOP3B	8940	broad.mit.edu	37	22	22317203	22317203	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr22:22317203C>G	ENST00000398793.2	-	12	1701	c.1267G>C	c.(1267-1269)Gac>Cac	p.D423H	TOP3B_ENST00000357179.5_Missense_Mutation_p.D423H|TOP3B_ENST00000413067.2_Missense_Mutation_p.D152H	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	423					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TACTTGCAGTCATGGCTGACC	0.612																																						ENST00000398793.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(1267-1269)Gac>Cac		topoisomerase (DNA) III beta							132.0	124.0	126.0					22																	22317203		2203	4300	6503	SO:0001583	missense	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22317203C>G	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1267G>C	22.37:g.22317203C>G	ENSP00000381773:p.Asp423His					TOP3B_ENST00000357179.5_Missense_Mutation_p.D423H|TOP3B_ENST00000413067.2_Missense_Mutation_p.D152H	p.D423H	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	12	1701	-	Colorectal(54;0.105)		423					A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	c.1267G>C	CCDS13797.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.687094|4.687094	0.88639|0.88639	.|.	.|.	ENSG00000100038|ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000413067|ENST00000457270	T;T;T|.	0.26067|.	1.76;1.76;1.76|.	4.59|4.59	4.59|4.59	0.56863|0.56863	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86464|0.86464	0.5939|0.5939	M|M	0.93678|0.93678	3.445|3.445	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.81914|.	0.995;0.991|.	D|D	0.90467|0.90467	0.4450|0.4450	10|5	0.87932|.	D|.	0|.	.|.	17.5949|17.5949	0.88009|0.88009	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	423;423|.	O95985;O95985-2|.	TOP3B_HUMAN;.|.	H|I	423;423;152|217	ENSP00000349705:D423H;ENSP00000381773:D423H;ENSP00000393118:D152H|.	ENSP00000349705:D423H|.	D|M	-|-	1|3	0|0	TOP3B|TOP3B	20647203|20647203	1.000000|1.000000	0.71417|0.71417	0.938000|0.938000	0.37757|0.37757	0.933000|0.933000	0.57130|0.57130	7.085000|7.085000	0.76875|0.76875	2.368000|2.368000	0.80403|0.80403	0.563000|0.563000	0.77884|0.77884	GAC|ATG		0.612	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		36	64	0	0	0	0.006230	0	36	64				
PARP1	142	broad.mit.edu	37	1	226567800	226567800	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:226567800C>G	ENST00000366794.5	-	10	1509	c.1366G>C	c.(1366-1368)Gag>Cag	p.E456Q		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	456	Automodification domain.|BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AGGAAGTCCTCAGACACAACT	0.488								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(1366-1368)Gag>Cag	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							74.0	67.0	69.0					1																	226567800		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226567800C>G	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1366G>C	1.37:g.226567800C>G	ENSP00000355759:p.Glu456Gln						p.E456Q	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	10	1509	-	Breast(184;0.133)		456			Automodification domain.|BRCT.		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.1366G>C	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910786	0.92178	.	.	ENSG00000143799	ENST00000366794	D	0.82255	-1.59	5.33	5.33	0.75918	BRCT (4);	0.091429	0.85682	D	0.000000	D	0.92254	0.7543	M	0.86651	2.83	0.80722	D	1	D	0.57899	0.981	D	0.69142	0.962	D	0.93064	0.6477	10	0.62326	D	0.03	.	19.0294	0.92950	0.0:1.0:0.0:0.0	.	456	P09874	PARP1_HUMAN	Q	456	ENSP00000355759:E456Q	ENSP00000355759:E456Q	E	-	1	0	PARP1	224634423	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.271000	0.78506	2.480000	0.83734	0.655000	0.94253	GAG		0.488	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		18	48	0	0	0	0.007413	0	18	48				
GALM	130589	broad.mit.edu	37	2	38893363	38893363	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:38893363G>A	ENST00000272252.5	+	1	312	c.60G>A	c.(58-60)gaG>gaA	p.E20E	AC074366.3_ENST00000446277.1_RNA|GALM_ENST00000410063.1_Silent_p.E20E	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	20					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)	p.E20E(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				GGACAGTGGAGAAGTTCCAGC	0.597																																						ENST00000272252.5																			1	Substitution - coding silent(1)	p.E20E(1)	urinary_tract(1)	NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(58-60)gaG>gaA		galactose mutarotase (aldose 1-epimerase)							80.0	68.0	72.0					2																	38893363		2203	4300	6503	SO:0001819	synonymous_variant	130589				hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding	g.chr2:38893363G>A		CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"""aldose 1 epimerase"""	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.60G>A	2.37:g.38893363G>A						GALM_ENST00000410063.1_Silent_p.E20E	p.E20E	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN			1	312	+		all_hematologic(82;0.248)	20					Q53RY1|Q8NIA2|V9HWA8	Silent	SNP	ENST00000272252.5	37	c.60G>A	CCDS1797.1																																																																																				0.597	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2	NM_138801		15	42	0	0	0	0.002450	0	15	42				
RNFT2	84900	broad.mit.edu	37	12	117217096	117217096	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr12:117217096C>T	ENST00000257575.4	+	7	1058	c.825C>T	c.(823-825)atC>atT	p.I275I	RNFT2_ENST00000319176.7_Intron|RNU6-558P_ENST00000364512.1_RNA|RNFT2_ENST00000407967.3_Silent_p.I275I|RNFT2_ENST00000392549.2_Silent_p.I275I			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	275						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		ACATCACCATCGCCCTCAAGT	0.552																																						ENST00000257575.4																			0				endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6						c.(823-825)atC>atT		ring finger protein, transmembrane 2							187.0	152.0	164.0					12																	117217096		2203	4300	6503	SO:0001819	synonymous_variant	84900					integral to membrane	zinc ion binding	g.chr12:117217096C>T	AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"""RING-type (C3HC4) zinc fingers"""	25905	protein-coding gene	gene with protein product			"""transmembrane protein 118"""	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.825C>T	12.37:g.117217096C>T						RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000407967.3_Silent_p.I275I|RNFT2_ENST00000392549.2_Silent_p.I275I	p.I275I			Q96EX2	RNFT2_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.034)	7	1058	+	all_neural(191;0.117)|Medulloblastoma(191;0.163)		275					E9PAM7|Q96SU5	Silent	SNP	ENST00000257575.4	37	c.825C>T	CCDS44987.1																																																																																				0.552	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320417.1	NM_032814		60	81	0	0	0	0.014410	0	60	81				
HTR1F	3355	broad.mit.edu	37	3	88040493	88040493	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:88040493G>C	ENST00000319595.4	+	1	648	c.594G>C	c.(592-594)ttG>ttC	p.L198F		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	198					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CATTGATTTTGATCCTTTACT	0.408																																						ENST00000319595.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(592-594)ttG>ttC		5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)						75.0	80.0	78.0					3																	88040493		2203	4300	6503	SO:0001583	missense	3355				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity	g.chr3:88040493G>C	L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.594G>C	3.37:g.88040493G>C	ENSP00000322924:p.Leu198Phe						p.L198F	NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	1	648	+	all_cancers(8;0.147)	Lung NSC(201;0.0283)	198						Missense_Mutation	SNP	ENST00000319595.4	37	c.594G>C	CCDS2920.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686360	0.47991	.	.	ENSG00000179097	ENST00000319595	T	0.74842	-0.88	5.01	2.08	0.27032	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.82756	0.5106	M	0.83692	2.655	0.41986	D	0.990828	D	0.89917	1.0	D	0.97110	1.0	T	0.81488	-0.0910	10	0.87932	D	0	.	3.9655	0.09429	0.2772:0.1816:0.5412:0.0	.	198	P30939	5HT1F_HUMAN	F	198	ENSP00000322924:L198F	ENSP00000322924:L198F	L	+	3	2	HTR1F	88123183	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.931000	0.40134	1.125000	0.41998	0.460000	0.39030	TTG		0.408	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352890.1	NM_000866		51	16	0	0	0	0.014410	0	51	16				
ASAP3	55616	broad.mit.edu	37	1	23759683	23759683	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:23759683G>A	ENST00000336689.3	-	22	2254	c.2210C>T	c.(2209-2211)gCc>gTc	p.A737V	ASAP3_ENST00000495646.1_Missense_Mutation_p.A241V|ASAP3_ENST00000437606.2_Missense_Mutation_p.A728V	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	737					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TCCCAGGCTGGCGACAGTCTC	0.602																																						ENST00000336689.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						c.(2209-2211)gCc>gTc		ArfGAP with SH3 domain, ankyrin repeat and PH domain 3							83.0	89.0	87.0					1																	23759683		2203	4300	6503	SO:0001583	missense	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23759683G>A	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.2210C>T	1.37:g.23759683G>A	ENSP00000338769:p.Ala737Val					ASAP3_ENST00000495646.1_Missense_Mutation_p.A241V|ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000437606.2_Missense_Mutation_p.A728V	p.A737V	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN			22	2254	-			737					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	ENST00000336689.3	37	c.2210C>T	CCDS235.1	.	.	.	.	.	.	.	.	.	.	G	6.831	0.522429	0.13066	.	.	ENSG00000088280	ENST00000538685;ENST00000495646;ENST00000336689;ENST00000465372;ENST00000437606	T;T;T	0.52754	2.06;0.65;0.65	4.69	1.65	0.23941	.	3.204770	0.00582	N	0.000335	T	0.33206	0.0855	N	0.24115	0.695	0.09310	N	0.999992	B;B;B;B	0.10296	0.002;0.001;0.003;0.001	B;B;B;B	0.08055	0.003;0.003;0.001;0.001	T	0.13388	-1.0511	10	0.29301	T	0.29	.	3.3405	0.07116	0.0926:0.3262:0.413:0.1682	.	728;627;260;737	Q8TDY4-3;B4DRP2;Q9NXH7;Q8TDY4	.;.;.;ASAP3_HUMAN	V	260;241;737;64;728	ENSP00000436150:A241V;ENSP00000338769:A737V;ENSP00000408826:A728V	ENSP00000338769:A737V	A	-	2	0	ASAP3	23632270	0.418000	0.25440	0.621000	0.29145	0.032000	0.12392	0.457000	0.21875	0.648000	0.30732	0.561000	0.74099	GCC		0.602	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		81	93	0	0	0	0.014410	0	81	93				
UMODL1	89766	broad.mit.edu	37	21	43531075	43531075	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr21:43531075C>T	ENST00000408910.2	+	11	1743	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	UMODL1_ENST00000400424.2_Silent_p.L509L|C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000400427.1_Silent_p.L509L|UMODL1_ENST00000408989.2_Silent_p.L581L	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	581					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGCAGCCCTCGGCCTAGAGA	0.657																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400427.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1525-1527)ctC>ctT		uromodulin-like 1							30.0	38.0	35.0					21																	43531075		2042	4186	6228	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43531075C>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1743C>T	21.37:g.43531075C>T						UMODL1_ENST00000400424.1_Silent_p.L509L|UMODL1_ENST00000408989.2_Silent_p.L581L|UMODL1_ENST00000408910.2_Silent_p.L581L	p.L509L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN			11	1923	+			576			EGF-like 2; calcium-binding (Potential).		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.1527C>T	CCDS42936.1																																																																																				0.657	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			18	42	0	0	0	0.010504	0	18	42				
PRSS50	29122	broad.mit.edu	37	3	46759219	46759219	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:46759219C>G	ENST00000460241.1	-	6	1766	c.96G>C	c.(94-96)ctG>ctC	p.L32L	PRSS50_ENST00000315170.7_Silent_p.L32L			Q9UI38	TSP50_HUMAN	protease, serine, 50	32					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CTGCAGACCTCAGCAACAGAA	0.721																																					Pancreas(41;915 1239 11561 17469)	ENST00000460241.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(94-96)ctG>ctC		protease, serine, 50							23.0	24.0	23.0					3																	46759219		2170	4256	6426	SO:0001819	synonymous_variant	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46759219C>G	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.96G>C	3.37:g.46759219C>G						PRSS50_ENST00000315170.7_Silent_p.L32L	p.L32L			Q9UI38	TSP50_HUMAN			6	1766	-			32						Silent	SNP	ENST00000460241.1	37	c.96G>C	CCDS2745.1																																																																																				0.721	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			6	2	0	0	0	0.001984	0	6	2				
ARFGEF1	10565	broad.mit.edu	37	8	68208741	68208741	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:68208741G>A	ENST00000262215.3	-	5	953	c.564C>T	c.(562-564)ctC>ctT	p.L188L		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	188	DCB; DCB:DCB domain and DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCTGATTGATGAGATTTTTGC	0.378																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(562-564)ctC>ctT		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							214.0	190.0	198.0					8																	68208741		2203	4300	6503	SO:0001819	synonymous_variant	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68208741G>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.564C>T	8.37:g.68208741G>A							p.L188L	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		5	953	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	188					Q9NV46|Q9UFV2|Q9UNL0	Silent	SNP	ENST00000262215.3	37	c.564C>T	CCDS6199.1																																																																																				0.378	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		42	101	0	0	0	0.014410	0	42	101				
RAC2	5880	broad.mit.edu	37	22	37637674	37637674	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr22:37637674G>A	ENST00000249071.6	-	2	181	c.60C>T	c.(58-60)ctC>ctT	p.L20L	RAC2_ENST00000406508.1_5'UTR|RAC2_ENST00000405484.1_Silent_p.L13L|RAC2_ENST00000401529.3_Silent_p.L20L	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	20					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	TGTAGCTGATGAGAAGGCAGG	0.622																																						ENST00000249071.6																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(58-60)ctC>ctT		ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)							193.0	179.0	184.0					22																	37637674		2203	4300	6503	SO:0001819	synonymous_variant	5880				axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr22:37637674G>A	M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340		"""Endogenous ligands"""	9802	protein-coding gene	gene with protein product		602049				2674130	Standard	NM_002872		Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000249071.6:c.60C>T	22.37:g.37637674G>A						RAC2_ENST00000405484.1_Silent_p.L13L|RAC2_ENST00000401529.3_Silent_p.L20L|RAC2_ENST00000406508.1_5'UTR	p.L20L	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN			2	181	-			20					Q9UDJ4	Silent	SNP	ENST00000249071.6	37	c.60C>T	CCDS13945.1																																																																																				0.622	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1			52	72	0	0	0	0.014410	0	52	72				
RP11-24M17.5	0	broad.mit.edu	37	15	76074441	76074441	+	RNA	SNP	A	A	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:76074441A>T	ENST00000395215.3	+	0	620																											CGAGCTGCAGAGAAGCGGTCC	0.557																																						ENST00000395215.3																			0																																																			0							g.chr15:76074441A>T																													15.37:g.76074441A>T														0	620	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.651	-0.071454	0.07228	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.437	0.437	0.16555	.	.	.	.	.	T	0.15478	0.0373	.	.	.	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.38001	-0.9681	6	0.02654	T	1	.	3.7635	0.08613	0.6336:0.0:0.0:0.3664	.	193	B4DZE6	.	S	193	.	ENSP00000378641:R193S	R	+	3	2	AC019294.2	73861496	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.070000	0.14573	-0.824000	0.04295	-1.485000	0.00982	AGA		0.557	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			4	54	0	0	0	0.001168	0	4	54				
ABL2	27	broad.mit.edu	37	1	179095631	179095631	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:179095631G>A	ENST00000502732.1	-	4	771	c.568C>T	c.(568-570)Cta>Tta	p.L190L	ABL2_ENST00000392043.3_Silent_p.L169L|ABL2_ENST00000344730.3_Silent_p.L175L|ABL2_ENST00000507173.1_Silent_p.L169L|ABL2_ENST00000512653.1_Silent_p.L175L|ABL2_ENST00000367623.4_Silent_p.L169L|ABL2_ENST00000511413.1_Silent_p.L190L|ABL2_ENST00000408940.3_Silent_p.L154L|ABL2_ENST00000504405.1_Silent_p.L154L	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	190	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCATTGATTAGACTGCTGAGC	0.537			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(568-570)Cta>Tta		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						147.0	127.0	134.0					1																	179095631		2203	4300	6503	SO:0001819	synonymous_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179095631G>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.568C>T	1.37:g.179095631G>A						ABL2_ENST00000408940.3_Silent_p.L154L|ABL2_ENST00000511413.1_Silent_p.L190L|ABL2_ENST00000344730.3_Silent_p.L175L|ABL2_ENST00000512653.1_Silent_p.L175L|ABL2_ENST00000392043.3_Silent_p.L169L|ABL2_ENST00000504405.1_Silent_p.L154L|ABL2_ENST00000367623.4_Silent_p.L169L|ABL2_ENST00000507173.1_Silent_p.L169L	p.L190L	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			4	771	-			190			SH2.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	c.568C>T	CCDS30947.1																																																																																				0.537	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		48	140	0	0	0	0.014410	0	48	140				
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs371238897		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547																																						ENST00000395215.3																			2	Substitution - Missense(2)	p.S190L(2)	endometrium(2)																																																0							g.chr15:76074431C>T																													15.37:g.76074431C>T														0	610	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.205	-0.162863	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.29850	0.0746	.	.	.	.	.	.	B	0.20550	0.046	B	0.15870	0.014	T	0.30208	-0.9986	6	0.27082	T	0.32	.	7.4893	0.27452	0.0:0.9999:0.0:1.0E-4	.	190	B4DZE6	.	L	190	.	ENSP00000378641:S190L	S	+	2	0	AC019294.2	73861486	0.987000	0.35691	0.013000	0.15412	0.024000	0.10985	3.310000	0.51911	0.745000	0.32763	0.274000	0.19336	TCG		0.547	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			4	51	0	0	0	0.000602	0	4	51				
MYPN	84665	broad.mit.edu	37	10	69881286	69881286	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr10:69881286G>T	ENST00000358913.5	+	2	579	c.91G>T	c.(91-93)Gag>Tag	p.E31*	MYPN_ENST00000540630.1_Nonsense_Mutation_p.E31*|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Nonsense_Mutation_p.E31*	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	31	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GGGAAACAATGAGAGGAGTCG	0.522																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(91-93)Gag>Tag		myopalladin							63.0	60.0	61.0					10																	69881286		2203	4300	6503	SO:0001587	stop_gained	84665					nucleus|sarcomere	actin binding	g.chr10:69881286G>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.91G>T	10.37:g.69881286G>T	ENSP00000351790:p.Glu31*					MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Nonsense_Mutation_p.E31*|MYPN_ENST00000540630.1_Nonsense_Mutation_p.E31*	p.E31*	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			2	579	+			31			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Nonsense_Mutation	SNP	ENST00000358913.5	37	c.91G>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	41	9.082612	0.99059	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	.	.	.	6.03	6.03	0.97812	.	0.114616	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	.	.	.	X	31	.	.	E	+	1	0	MYPN	69551292	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	8.850000	0.92190	2.861000	0.98227	0.655000	0.94253	GAG		0.522	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		13	73	1	0	9.31168e-06	0.001855	9.5682e-06	13	73				
OR1G1	8390	broad.mit.edu	37	17	3030534	3030534	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:3030534G>T	ENST00000328890.2	-	1	341	c.312C>A	c.(310-312)ttC>ttA	p.F104L		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	104					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CAAATAACATGAAAAAATACA	0.483																																					Colon(127;1481 1654 8243 19426 50557)	ENST00000328890.2																			0				kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						c.(310-312)ttC>ttA		olfactory receptor, family 1, subfamily G, member 1							76.0	71.0	72.0					17																	3030534		2203	4300	6503	SO:0001583	missense	8390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3030534G>T	U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"""GPCR / Class A : Olfactory receptors"""	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.312C>A	17.37:g.3030534G>T	ENSP00000331545:p.Phe104Leu						p.F104L	NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN			1	341	-			104					Q4VBM1|Q6IFL9|Q9UM76	Missense_Mutation	SNP	ENST00000328890.2	37	c.312C>A	CCDS11020.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033608	0.54896	.	.	ENSG00000183024	ENST00000328890	T	0.00309	8.16	4.16	-0.454	0.12197	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	L	0.60067	1.865	0.09310	N	1	B	0.25667	0.131	B	0.21546	0.035	T	0.14839	-1.0458	9	0.37606	T	0.19	.	7.7005	0.28619	0.4961:0.0:0.5039:0.0	.	104	P47890	OR1G1_HUMAN	L	104	ENSP00000331545:F104L	ENSP00000331545:F104L	F	-	3	2	OR1G1	2977284	0.000000	0.05858	0.100000	0.21137	0.953000	0.61014	-0.730000	0.04915	0.094000	0.17404	0.530000	0.56133	TTC		0.483	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207206.2			10	82	1	0	0.000442599	0.006214	0.0004523	10	82				
OR2A14	135941	broad.mit.edu	37	7	143826410	143826410	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:143826410G>A	ENST00000408899.2	+	1	260	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GGCCATTGTTGACATATCCTA	0.463																																						ENST00000408899.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(205-207)Gac>Aac		olfactory receptor, family 2, subfamily A, member 14							239.0	232.0	234.0					7																	143826410		2123	4278	6401	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826410G>A		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.205G>A	7.37:g.143826410G>A	ENSP00000386137:p.Asp69Asn						p.D69N	NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN			1	260	+	Melanoma(164;0.0783)		69					Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.205G>A	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633538	0.29068	.	.	ENSG00000221938	ENST00000408899	T	0.01165	5.24	4.18	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04452	0.0122	M	0.93062	3.375	0.37385	D	0.912211	P	0.41450	0.75	B	0.43360	0.417	T	0.08411	-1.0723	9	0.87932	D	0	-22.6777	12.0202	0.53340	0.0:0.1759:0.8241:0.0	.	69	Q96R47	O2A14_HUMAN	N	69	ENSP00000386137:D69N	ENSP00000386137:D69N	D	+	1	0	OR2A14	143457343	1.000000	0.71417	0.164000	0.22755	0.116000	0.19942	7.478000	0.81082	1.077000	0.40990	0.561000	0.74099	GAC		0.463	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			79	140	0	0	0	0.014410	0	79	140				
ACSM1	116285	broad.mit.edu	37	16	20696551	20696551	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:20696551C>G	ENST00000307493.4	-	2	434	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.E123Q	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	123					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						AGCCACCACTCAGGAACTCGA	0.582																																						ENST00000307493.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						c.(367-369)Gag>Cag		acyl-CoA synthetase medium-chain family member 1							163.0	122.0	136.0					16																	20696551		2201	4300	6501	SO:0001583	missense	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20696551C>G	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.367G>C	16.37:g.20696551C>G	ENSP00000301956:p.Glu123Gln					ACSM1_ENST00000520010.1_Missense_Mutation_p.E123Q|ACSM1_ENST00000219151.4_5'UTR	p.E123Q	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN			2	434	-			123					Q08AH2|Q96A20	Missense_Mutation	SNP	ENST00000307493.4	37	c.367G>C	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564242	0.86335	.	.	ENSG00000166743	ENST00000307493;ENST00000520010;ENST00000523065	T;T;T	0.55234	0.53;0.53;0.53	4.38	4.38	0.52667	AMP-dependent synthetase/ligase (1);	0.000000	0.44285	D	0.000474	T	0.69860	0.3158	M	0.62016	1.91	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.74423	-0.3670	10	0.87932	D	0	.	16.7343	0.85443	0.0:1.0:0.0:0.0	.	123	Q08AH1	ACSM1_HUMAN	Q	123	ENSP00000301956:E123Q;ENSP00000428047:E123Q;ENSP00000428830:E123Q	ENSP00000301956:E123Q	E	-	1	0	ACSM1	20604052	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	6.091000	0.71406	2.262000	0.75019	0.609000	0.83330	GAG		0.582	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		22	74	0	0	0	0.012319	0	22	74				
HIRIP3	8479	broad.mit.edu	37	16	30005773	30005773	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:30005773G>A	ENST00000279392.3	-	4	1523	c.693C>T	c.(691-693)atC>atT	p.I231I	INO80E_ENST00000304516.7_5'Flank|HIRIP3_ENST00000564026.1_Intron|HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000563197.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000567254.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	231	Glu-rich.				chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCTGGGCTAGGATCTCCTCTT	0.498																																						ENST00000279392.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						c.(691-693)atC>atT		HIRA interacting protein 3							198.0	184.0	189.0					16																	30005773		2197	4300	6497	SO:0001819	synonymous_variant	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30005773G>A	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.693C>T	16.37:g.30005773G>A						HIRIP3_ENST00000564026.1_Intron	p.I231I	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN			4	1523	-			231			Glu-rich.		H3BSR3|O75707|O75708	Silent	SNP	ENST00000279392.3	37	c.693C>T	CCDS10664.1																																																																																				0.498	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		6	230	0	0	0	0.003080	0	6	230				
ZNF394	84124	broad.mit.edu	37	7	99097680	99097680	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:99097680C>T	ENST00000337673.6	-	1	240	c.37G>A	c.(37-39)Gac>Aac	p.D13N	ZNF394_ENST00000394177.3_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.D13N|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	13					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AACTCGGCGTCACTGCCGCGC	0.597																																					Ovarian(24;589 697 9939 12704 40742)	ENST00000337673.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16						c.(37-39)Gac>Aac		zinc finger protein 394							44.0	48.0	46.0					7																	99097680		2203	4299	6502	SO:0001583	missense	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99097680C>T	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.37G>A	7.37:g.99097680C>T	ENSP00000337363:p.Asp13Asn					ZNF394_ENST00000394177.3_Intron|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.D13N|ZNF789_ENST00000493485.1_Intron	p.D13N	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN			1	240	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		13					A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	c.37G>A	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037774	0.75617	.	.	ENSG00000160908	ENST00000337673;ENST00000426306	T;T	0.05199	3.48;3.79	2.15	2.15	0.27550	.	.	.	.	.	T	0.04092	0.0114	N	0.14661	0.345	0.09310	N	1	B;B	0.33694	0.198;0.421	B;B	0.32393	0.145;0.1	T	0.39121	-0.9629	9	0.56958	D	0.05	.	7.8696	0.29558	0.0:1.0:0.0:0.0	.	13;13	Q05DA6;Q53GI3	.;ZN394_HUMAN	N	13	ENSP00000337363:D13N;ENSP00000409565:D13N	ENSP00000337363:D13N	D	-	1	0	ZNF394	98935616	0.002000	0.14202	0.018000	0.16275	0.150000	0.21749	0.768000	0.26590	1.533000	0.49186	0.655000	0.94253	GAC		0.597	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		52	48	0	0	0	0.014410	0	52	48				
RFPL2	10739	broad.mit.edu	37	22	32590359	32590359	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr22:32590359C>G	ENST00000400237.1	-	3	1173	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	RFPL2_ENST00000248983.4_Intron|RFPL2_ENST00000248980.4_5'Flank|RFPL2_ENST00000489846.1_5'Flank|RFPL2_ENST00000400236.3_5'UTR			O75678	RFPL2_HUMAN	ret finger protein-like 2	80							zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CCTCTGTCCTCCAGCTGCTTC	0.562																																						ENST00000400237.1																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						c.(238-240)Gag>Cag		ret finger protein-like 2							36.0	33.0	34.0					22																	32590359		1568	3582	5150	SO:0001583	missense	10739						zinc ion binding	g.chr22:32590359C>G	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.238G>C	22.37:g.32590359C>G	ENSP00000383096:p.Glu80Gln					RFPL2_ENST00000400236.3_5'UTR|RFPL2_ENST00000248983.4_Intron	p.E80Q			O75678	RFPL2_HUMAN			3	1173	-			80						Missense_Mutation	SNP	ENST00000400237.1	37	c.238G>C	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	C	4.211	0.038013	0.08148	.	.	ENSG00000128253	ENST00000400237	T	0.54071	0.59	0.541	-0.805	0.10879	.	.	.	.	.	T	0.27278	0.0669	N	0.08118	0	0.09310	N	0.999998	B	0.17852	0.024	B	0.08055	0.003	T	0.15321	-1.0441	8	0.59425	D	0.04	.	.	.	.	.	80	O75678	RFPL2_HUMAN	Q	80	ENSP00000383096:E80Q	ENSP00000383096:E80Q	E	-	1	0	RFPL2	30920359	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.342000	0.02645	-0.295000	0.08960	-0.676000	0.03789	GAG		0.562	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		15	23	0	0	0	0.006122	0	15	23				
OR8H1	219469	broad.mit.edu	37	11	56058397	56058397	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:56058397T>G	ENST00000313022.2	-	1	169	c.142A>C	c.(142-144)Ata>Cta	p.I48L		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AGGCGGATTATCAATATCATC	0.423																																						ENST00000313022.2																			0				NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(142-144)Ata>Cta		olfactory receptor, family 8, subfamily H, member 1							222.0	209.0	213.0					11																	56058397		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058397T>G	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.142A>C	11.37:g.56058397T>G	ENSP00000323595:p.Ile48Leu						p.I48L	NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN			1	169	-	Esophageal squamous(21;0.00448)		48					B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.142A>C	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.770290	0.00081	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.02944	4.1	3.98	-7.16	0.01516	GPCR, rhodopsin-like superfamily (1);	0.347798	0.24674	N	0.036538	T	0.00845	0.0028	N	0.03016	-0.435	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33879	-0.9851	10	0.02654	T	1	.	7.2562	0.26177	0.0:0.3776:0.3382:0.2841	.	48	Q8NGG4	OR8H1_HUMAN	L	48;44	ENSP00000323595:I48L	ENSP00000323595:I48L	I	-	1	0	OR8H1	55814973	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.792000	0.00098	-1.541000	0.01727	-3.352000	0.00042	ATA		0.423	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		75	201	0	0	0	0.014410	0	75	201				
ABCB11	8647	broad.mit.edu	37	2	169788945	169788945	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:169788945A>G	ENST00000263817.6	-	24	3279	c.3155T>C	c.(3154-3156)tTt>tCt	p.F1052S		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1052					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CAGCAGTTGAAAAAAGCGTGC	0.433																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(3154-3156)tTt>tCt		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						102.0	99.0	100.0					2																	169788945		1877	4118	5995	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169788945A>G	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3155T>C	2.37:g.169788945A>G	ENSP00000263817:p.Phe1052Ser						p.F1052S	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			24	3279	-			1052					Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.3155T>C	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.501098	0.85176	.	.	ENSG00000073734	ENST00000263817	D	0.88431	-2.38	5.69	5.69	0.88448	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.95114	0.8417	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.95819	0.8848	10	0.87932	D	0	.	15.9396	0.79745	1.0:0.0:0.0:0.0	.	494;1052	B4DZQ8;O95342	.;ABCBB_HUMAN	S	1052	ENSP00000263817:F1052S	ENSP00000263817:F1052S	F	-	2	0	ABCB11	169497191	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	9.339000	0.96797	2.163000	0.67991	0.533000	0.62120	TTT		0.433	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		8	10	0	0	0	0.003080	0	8	10				
TRPV1	7442	broad.mit.edu	37	17	3495380	3495380	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:3495380C>G	ENST00000571088.1	-	2	478	c.265G>C	c.(265-267)Gac>Cac	p.D89H	TRPV1_ENST00000399759.3_Missense_Mutation_p.D89H|TRPV1_ENST00000576351.1_Missense_Mutation_p.D89H|TRPV1_ENST00000425167.2_Missense_Mutation_p.D89H|SHPK_ENST00000572705.1_Missense_Mutation_p.D89H|TRPV1_ENST00000310522.5_Missense_Mutation_p.D89H|TRPV1_ENST00000174621.6_Missense_Mutation_p.E63D|TRPV1_ENST00000399756.4_Missense_Mutation_p.D89H	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	89					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GTGGGGCCGTCTCCTGGCCTC	0.657																																					Melanoma(38;962 1762 15789)	ENST00000174621.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(187-189)gaG>gaC		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						26.0	30.0	29.0					17																	3495380		2022	4173	6195	SO:0001583	missense	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3495380C>G	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.265G>C	17.37:g.3495380C>G	ENSP00000461007:p.Asp89His					TRPV1_ENST00000399759.3_Missense_Mutation_p.D89H|TRPV1_ENST00000425167.2_Missense_Mutation_p.D89H|TRPV1_ENST00000576351.1_Missense_Mutation_p.D89H|TRPV1_ENST00000399756.4_Missense_Mutation_p.D89H|TRPV1_ENST00000571088.1_Missense_Mutation_p.D89H|TRPV1_ENST00000310522.5_Missense_Mutation_p.D89H|SHPK_ENST00000572705.1_Missense_Mutation_p.D89H	p.E63D			Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	2	478	-			763					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	ENST00000571088.1	37	c.189G>C	CCDS45576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.61|12.61	1.990188|1.990188	0.35131|0.35131	.|.	.|.	ENSG00000196689|ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000425167;ENST00000310522|ENST00000174621	T;T;T;T|D	0.33438|0.90900	1.41;1.41;1.41;1.41|-2.75	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	0.439007|.	0.23396|.	N|.	0.048638|.	D|D	0.87943|0.87943	0.6305|0.6305	L|L	0.51422|0.51422	1.61|1.61	0.22728|0.22728	N|N	0.998808|0.998808	D;D;D|B	0.65815|0.14012	0.958;0.98;0.995|0.009	P;P;P|B	0.52672|0.15484	0.608;0.706;0.701|0.013	T|T	0.77920|0.77920	-0.2407|-0.2407	10|9	0.33940|0.38643	T|T	0.23|0.18	-5.0963|-5.0963	13.988|13.988	0.64348|0.64348	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	89;89;89|63	Q8NER1;E7ESJ2;E7EQ78|E7EQ80	TRPV1_HUMAN;.;.|.	H|D	89|63	ENSP00000382661:D89H;ENSP00000382659:D89H;ENSP00000409627:D89H;ENSP00000311692:D89H|ENSP00000174621:E63D	ENSP00000311692:D89H|ENSP00000174621:E63D	D|E	-|-	1|3	0|2	TRPV1|TRPV1	3442129|3442129	0.028000|0.028000	0.19301|0.19301	0.651000|0.651000	0.29564|0.29564	0.027000|0.027000	0.11550|0.11550	1.122000|1.122000	0.31295|0.31295	2.583000|2.583000	0.87209|0.87209	0.650000|0.650000	0.86243|0.86243	GAC|GAG		0.657	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		12	43	0	0	0	0.001855	0	12	43				
MMP8	4317	broad.mit.edu	37	11	102592421	102592421	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:102592421C>G	ENST00000236826.3	-	3	518	c.420G>C	c.(418-420)tgG>tgC	p.W140C		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	140					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	ATGCAACACTCCAGAGTTCAA	0.448																																						ENST00000236826.3																			0				autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(418-420)tgG>tgC		matrix metallopeptidase 8 (neutrophil collagenase)							140.0	124.0	129.0					11																	102592421		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102592421C>G	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.420G>C	11.37:g.102592421C>G	ENSP00000236826:p.Trp140Cys						p.W140C	NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	3	518	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	140					Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.420G>C	CCDS8320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.16|16.16	3.043587|3.043587	0.55003|0.55003	.|.	.|.	ENSG00000118113|ENSG00000118113	ENST00000438475|ENST00000236826;ENST00000544383;ENST00000534942	.|T	.|0.47177	.|0.85	5.46|5.46	5.46|5.46	0.80206|0.80206	.|Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	.|0.000000	.|0.53938	.|D	.|0.000047	T|T	0.81197|0.81197	0.4772|0.4772	H|H	0.97707|0.97707	4.06|4.06	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.87946|0.87946	0.2720|0.2720	5|10	.|0.87932	.|D	.|0	.|.	19.3227|19.3227	0.94248|0.94248	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|140;75;140	.|A8K9E4;F5GXB5;P22894	.|.;.;MMP8_HUMAN	Q|C	116|140;117;75	.|ENSP00000236826:W140C	.|ENSP00000236826:W140C	E|W	-|-	1|3	0|0	MMP8|MMP8	102097631|102097631	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.052000|0.052000	0.14988|0.14988	7.103000|7.103000	0.77014|0.77014	2.557000|2.557000	0.86248|0.86248	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.448	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		21	350	0	0	0	0.012319	0	21	350				
ACRC	93953	broad.mit.edu	37	X	70814205	70814205	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chrX:70814205G>C	ENST00000373695.1	+	4	702	c.165G>C	c.(163-165)agG>agC	p.R55S	ACRC_ENST00000373696.3_Missense_Mutation_p.R55S			Q96QF7	ACRC_HUMAN	acidic repeat containing	55						nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TCCAGTCAAGGAGTGGTGACA	0.403																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(163-165)agG>agC		acidic repeat containing							181.0	145.0	157.0					X																	70814205		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70814205G>C	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.165G>C	X.37:g.70814205G>C	ENSP00000362799:p.Arg55Ser					ACRC_ENST00000373696.3_Missense_Mutation_p.R55S	p.R55S			Q96QF7	ACRC_HUMAN			4	702	+	Renal(35;0.156)		55					B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.165G>C	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	-	7.350	0.622773	0.14193	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.57436	0.4;0.4	2.14	-0.893	0.10567	.	.	.	.	.	T	0.28366	0.0701	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.21586	-1.0241	9	0.87932	D	0	.	0.7546	0.00996	0.2331:0.3618:0.2366:0.1685	.	55	Q96QF7	ACRC_HUMAN	S	55	ENSP00000362800:R55S;ENSP00000362799:R55S	ENSP00000362799:R55S	R	+	3	2	ACRC	70730930	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.383000	0.07398	-0.366000	0.08064	-0.757000	0.03467	AGG		0.403	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			32	8	0	0	0	0.006230	0	32	8				
PARS2	25973	broad.mit.edu	37	1	55224213	55224213	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:55224213C>G	ENST00000371279.3	-	2	704	c.622G>C	c.(622-624)Gat>Cat	p.D208H		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	208					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	GTGTACATATCCTTCATGTAA	0.552																																						ENST00000371279.3																			0				breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15						c.(622-624)Gat>Cat		prolyl-tRNA synthetase 2, mitochondrial (putative)	L-Proline(DB00172)						66.0	65.0	65.0					1																	55224213		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55224213C>G	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.622G>C	1.37:g.55224213C>G	ENSP00000360327:p.Asp208His						p.D208H	NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN			2	704	-			208					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.622G>C	CCDS597.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041095	0.75732	.	.	ENSG00000162396	ENST00000371279	T	0.73789	-0.78	4.68	4.68	0.58851	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.91597	0.7345	H	0.97962	4.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94850	0.8013	10	0.87932	D	0	-21.7929	17.8226	0.88654	0.0:1.0:0.0:0.0	.	208	Q7L3T8	SYPM_HUMAN	H	208	ENSP00000360327:D208H	ENSP00000360327:D208H	D	-	1	0	PARS2	54996801	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.620000	0.83070	2.423000	0.82170	0.563000	0.77884	GAT		0.552	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		54	56	0	0	0	0.014410	0	54	56				
CSDE1	7812	broad.mit.edu	37	1	115275262	115275262	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:115275262G>C	ENST00000358528.4	-	10	1439	c.1013C>G	c.(1012-1014)tCa>tGa	p.S338*	CSDE1_ENST00000261443.5_Nonsense_Mutation_p.S307*|CSDE1_ENST00000339438.6_Nonsense_Mutation_p.S307*|CSDE1_ENST00000534699.1_Nonsense_Mutation_p.S338*|CSDE1_ENST00000530886.1_Nonsense_Mutation_p.S208*|CSDE1_ENST00000369530.1_Nonsense_Mutation_p.S353*|CSDE1_ENST00000438362.2_Nonsense_Mutation_p.S384*	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	338					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATGTATTTGACAGAACTTC	0.373																																						ENST00000438362.2																			0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1150-1152)tCa>tGa		cold shock domain containing E1, RNA-binding							162.0	160.0	161.0					1																	115275262		2203	4300	6503	SO:0001587	stop_gained	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115275262G>C		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1013C>G	1.37:g.115275262G>C	ENSP00000351329:p.Ser338*					CSDE1_ENST00000358528.4_Nonsense_Mutation_p.S338*|CSDE1_ENST00000261443.5_Nonsense_Mutation_p.S307*|CSDE1_ENST00000530886.1_Nonsense_Mutation_p.S208*|CSDE1_ENST00000339438.6_Nonsense_Mutation_p.S307*|CSDE1_ENST00000534699.1_Nonsense_Mutation_p.S338*|CSDE1_ENST00000369530.1_Nonsense_Mutation_p.S353*	p.S384*	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1529	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	338	IKCVDRDVRMFFHFSEILDGNQL -> HPSVWIRECSVCSF PLPVKFWMGTSS (in Ref. 2; AAD27787).		CSD 5.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Nonsense_Mutation	SNP	ENST00000358528.4	37	c.1151C>G	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	G	42	9.376292	0.99153	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	5.89	5.89	0.94794	.	0.294073	0.38005	N	0.001850	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-0.5883	20.2374	0.98362	0.0:0.0:1.0:0.0	.	.	.	.	X	307;384;338;307;208;353;338	.	ENSP00000261443:S307X	S	-	2	0	CSDE1	115076785	1.000000	0.71417	0.995000	0.50966	0.948000	0.59901	7.589000	0.82641	2.787000	0.95880	0.591000	0.81541	TCA		0.373	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		13	108	0	0	0	0.003163	0	13	108				
UBXN1	51035	broad.mit.edu	37	11	62445293	62445293	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:62445293C>T	ENST00000301935.5	-	6	660	c.494G>A	c.(493-495)aGa>aAa	p.R165K	UBXN1_ENST00000529640.1_Missense_Mutation_p.R161K|UBXN1_ENST00000294119.2_Missense_Mutation_p.R165K|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000533000.1_Missense_Mutation_p.R23K			Q04323	UBXN1_HUMAN	UBX domain protein 1	165	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						GATCTTTTCTCTAACTCTTTG	0.433																																						ENST00000294119.2																			0				endometrium(5)|lung(12)	17						c.(493-495)aGa>aAa		UBX domain protein 1							160.0	127.0	139.0					11																	62445293		2202	4299	6501	SO:0001583	missense	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62445293C>T		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.494G>A	11.37:g.62445293C>T	ENSP00000303991:p.Arg165Lys					UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000533000.1_Missense_Mutation_p.R23K|UBXN1_ENST00000529640.1_Missense_Mutation_p.R161K|UBXN1_ENST00000301935.5_Missense_Mutation_p.R165K	p.R165K	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN			6	625	-			165			Interaction with BRCA1.		Q9BV93|Q9BVV5	Missense_Mutation	SNP	ENST00000301935.5	37	c.494G>A		.	.	.	.	.	.	.	.	.	.	C	11.02	1.515314	0.27123	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000533000;ENST00000537534;ENST00000529640;ENST00000534176	T;T;T;T	0.24538	2.15;2.11;1.85;2.12	4.79	4.79	0.61399	.	0.113161	0.64402	D	0.000013	T	0.16727	0.0402	N	0.25890	0.77	0.37682	D	0.923535	B;B;B;B	0.27625	0.024;0.048;0.027;0.183	B;B;B;B	0.24974	0.012;0.006;0.014;0.057	T	0.03555	-1.1025	10	0.06099	T	0.92	-7.0576	16.1533	0.81636	0.0:1.0:0.0:0.0	.	165;161;165;165	B4DNC6;E9PRQ7;Q04323;Q04323-2	.;.;UBXN1_HUMAN;.	K	165;165;23;68;161;165	ENSP00000294119:R165K;ENSP00000303991:R165K;ENSP00000435964:R161K;ENSP00000435625:R165K	ENSP00000294119:R165K	R	-	2	0	UBXN1	62201869	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.605000	0.54088	2.941000	0.99782	0.655000	0.94253	AGA		0.433	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		50	105	0	0	0	0.014410	0	50	105				
TSSK2	23617	broad.mit.edu	37	22	19119070	19119070	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr22:19119070T>G	ENST00000399635.2	+	1	750	c.158T>G	c.(157-159)gTg>gGg	p.V53G	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	53	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					ACTGACTTTGTGGAGAGATTC	0.498																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(157-159)gTg>gGg		testis-specific serine kinase 2							76.0	68.0	71.0					22																	19119070		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119070T>G	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.158T>G	22.37:g.19119070T>G	ENSP00000382544:p.Val53Gly					DGCR14_ENST00000252137.6_3'UTR	p.V53G	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	750	+	Colorectal(54;0.0993)		53			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.158T>G	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.063983	0.55432	.	.	ENSG00000206203	ENST00000399635	T	0.64803	-0.12	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46442	D	0.000283	T	0.59891	0.2227	N	0.21324	0.655	0.51233	D	0.999917	B	0.31730	0.337	P	0.47705	0.555	T	0.64441	-0.6407	10	0.87932	D	0	.	9.1416	0.36908	0.0:0.0825:0.0:0.9175	.	53	Q96PF2	TSSK2_HUMAN	G	53	ENSP00000382544:V53G	ENSP00000382544:V53G	V	+	2	0	TSSK2	17499070	0.997000	0.39634	0.994000	0.49952	0.935000	0.57460	2.207000	0.42788	2.082000	0.62665	0.533000	0.62120	GTG		0.498	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			22	30	0	0	0	0.003330	0	22	30				
NTRK2	4915	broad.mit.edu	37	9	87636301	87636301	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr9:87636301C>G	ENST00000323115.4	+	17	2771	c.2418C>G	c.(2416-2418)ctC>ctG	p.L806L	NTRK2_ENST00000376214.1_Silent_p.L822L|NTRK2_ENST00000277120.3_Silent_p.L822L|NTRK2_ENST00000376213.1_Silent_p.L806L			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	806	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TCCATACCCTCCTTCAGAACT	0.597										TSP Lung(25;0.17)																												ENST00000376214.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(2464-2466)ctC>ctG		neurotrophic tyrosine kinase, receptor, type 2							132.0	121.0	125.0					9																	87636301		2203	4300	6503	SO:0001819	synonymous_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87636301C>G	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2418C>G	9.37:g.87636301C>G		TSP Lung(25;0.17)				NTRK2_ENST00000376213.1_Silent_p.L806L|NTRK2_ENST00000277120.3_Silent_p.L822L|NTRK2_ENST00000323115.4_Silent_p.L806L	p.L822L	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN			21	3404	+			806					B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	37	c.2466C>G	CCDS35050.1																																																																																				0.597	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			88	16	0	0	0	0.014410	0	88	16				
ACAD11	84129	broad.mit.edu	37	3	132345633	132345633	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:132345633C>G	ENST00000264990.6	-	9	2070	c.1099G>C	c.(1099-1101)Gat>Cat	p.D367H	ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Missense_Mutation_p.D367H|ACAD11_ENST00000355458.3_Missense_Mutation_p.D367H	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	367					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CCAGTAGTATCAATCTGTGGT	0.338																																						ENST00000264990.6																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						c.(1099-1101)Gat>Cat		acyl-CoA dehydrogenase family, member 11							98.0	93.0	95.0					3																	132345633		2203	4300	6503	SO:0001583	missense	84129							g.chr3:132345633C>G	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1099G>C	3.37:g.132345633C>G	ENSP00000264990:p.Asp367His					ACAD11_ENST00000355458.3_Missense_Mutation_p.D367H|ACAD11_ENST00000481970.2_Missense_Mutation_p.D367H|ACAD11_ENST00000545291.1_5'UTR	p.D367H	NM_032169.4	NP_115545.3					9	2070	-								Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.1099G>C	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	C	9.793	1.178393	0.21787	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	D;D;T	0.96587	-4.01;-4.06;1.93	5.31	4.37	0.52481	Acyl-CoA dehydrogenase/oxidase (1);	.	.	.	.	D	0.92831	0.7720	L	0.41027	1.25	0.18873	N	0.999981	B;B	0.13594	0.001;0.008	B;B	0.11329	0.003;0.006	D	0.84731	0.0745	9	0.41790	T	0.15	.	8.9056	0.35521	0.0:0.6485:0.2721:0.0794	.	367;367	D6RDI8;Q709F0	.;ACD11_HUMAN	H	367	ENSP00000347636:D367H;ENSP00000264990:D367H;ENSP00000420907:D367H	ENSP00000264990:D367H	D	-	1	0	ACAD11	133828323	0.047000	0.20315	0.033000	0.17914	0.086000	0.17979	1.371000	0.34250	2.641000	0.89580	0.655000	0.94253	GAT		0.338	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		19	55	0	0	0	0.010504	0	19	55				
PDK1	5163	broad.mit.edu	37	2	173429336	173429336	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:173429336C>G	ENST00000282077.3	+	4	698	c.516C>G	c.(514-516)gtC>gtG	p.V172V	PDK1_ENST00000392571.2_Silent_p.V192V|PDK1_ENST00000544863.1_Silent_p.V17V|PDK1_ENST00000410055.1_Silent_p.V172V|PDK1_ENST00000543905.1_Silent_p.V96V			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	172	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TGGATCCTGTCACCAGCCAGA	0.443									Autosomal Dominant Polycystic Kidney Disease																													ENST00000410055.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16						c.(514-516)gtC>gtG		pyruvate dehydrogenase kinase, isozyme 1							148.0	131.0	137.0					2																	173429336		2203	4300	6503	SO:0001819	synonymous_variant	5163	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr2:173429336C>G	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"""pyruvate dehydrogenase kinase, isoenzyme 1"""			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.516C>G	2.37:g.173429336C>G						PDK1_ENST00000544863.1_Silent_p.V17V|PDK1_ENST00000543905.1_Silent_p.V96V|PDK1_ENST00000282077.2_Silent_p.V172V|PDK1_ENST00000392571.2_Silent_p.V192V	p.V172V	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.12)		4	616	+			172			Histidine kinase.		B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Silent	SNP	ENST00000282077.3	37	c.516C>G	CCDS2250.1																																																																																				0.443	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610		26	55	0	0	0	0.004656	0	26	55				
TYK2	7297	broad.mit.edu	37	19	10469922	10469922	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:10469922C>G	ENST00000525621.1	-	15	2585	c.2104G>C	c.(2104-2106)Gag>Cag	p.E702Q	TYK2_ENST00000529370.1_Missense_Mutation_p.E702Q|TYK2_ENST00000264818.6_Missense_Mutation_p.E702Q|TYK2_ENST00000524462.1_Missense_Mutation_p.E517Q	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	702	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGGCCCCGCTCCCTCCGCAGC	0.637																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2104-2106)Gag>Cag		tyrosine kinase 2							44.0	36.0	39.0					19																	10469922		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10469922C>G		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2104G>C	19.37:g.10469922C>G	ENSP00000431885:p.Glu702Gln					TYK2_ENST00000264818.6_Missense_Mutation_p.E702Q|TYK2_ENST00000529370.1_Missense_Mutation_p.E702Q|TYK2_ENST00000524462.1_Missense_Mutation_p.E517Q	p.E702Q	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		15	2585	-			702			Protein kinase 1.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.2104G>C	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	4.702	0.130589	0.08981	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.0	2.82	0.32997	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.559346	0.15482	N	0.260035	T	0.71151	0.3306	N	0.20445	0.575	0.40136	D	0.976771	P;B	0.34977	0.478;0.08	B;B	0.41236	0.351;0.034	T	0.59721	-0.7401	10	0.11485	T	0.65	-18.4458	8.3775	0.32451	0.0:0.7495:0.1623:0.0882	.	702;702	E9PPF2;P29597	.;TYK2_HUMAN	Q	517;702;702;449;702	ENSP00000433203:E517Q;ENSP00000431885:E702Q;ENSP00000264818:E702Q;ENSP00000432728:E702Q	ENSP00000264818:E702Q	E	-	1	0	TYK2	10330922	0.037000	0.19845	0.933000	0.37362	0.230000	0.25150	0.334000	0.19787	0.675000	0.31264	0.655000	0.94253	GAG		0.637	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			3	32	0	0	0	0.004672	0	3	32				
SLC17A3	10786	broad.mit.edu	37	6	25862469	25862469	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:25862469G>A	ENST00000360657.3	-	3	580	c.295C>T	c.(295-297)Cct>Tct	p.P99S	SLC17A3_ENST00000361703.6_Missense_Mutation_p.P99S|SLC17A3_ENST00000397060.4_Missense_Mutation_p.P99S			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	99					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ACCTTTGCAGGAAGACTCTTT	0.383																																						ENST00000397060.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						c.(295-297)Cct>Tct		solute carrier family 17 (organic anion transporter), member 3							85.0	75.0	79.0					6																	25862469		2203	4300	6503	SO:0001583	missense	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25862469G>A	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.295C>T	6.37:g.25862469G>A	ENSP00000353873:p.Pro99Ser					SLC17A3_ENST00000360657.3_Missense_Mutation_p.P99S|SLC17A3_ENST00000361703.6_Missense_Mutation_p.P99S	p.P99S	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN			3	404	-			99					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.295C>T	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.383966	0.01194	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.64085	-0.08;0.1;0.1	3.57	0.555	0.17247	.	967.133000	0.00166	N	0.000001	T	0.22859	0.0552	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.03922	-1.0992	10	0.07990	T	0.79	.	5.521	0.16933	0.2018:0.0:0.6398:0.1584	.	99;80;99;99	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	S	99	ENSP00000380250:P99S;ENSP00000353873:P99S;ENSP00000355307:P99S	ENSP00000353873:P99S	P	-	1	0	SLC17A3	25970448	0.000000	0.05858	0.002000	0.10522	0.057000	0.15508	-0.188000	0.09642	-0.132000	0.11557	-1.222000	0.01597	CCT		0.383	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			17	14	0	0	0	0.007413	0	17	14				
YEATS2	55689	broad.mit.edu	37	3	183493896	183493896	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:183493896C>T	ENST00000305135.5	+	18	2757	c.2562C>T	c.(2560-2562)ctC>ctT	p.L854L		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	854					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTTACATCCTCAAGCAAACTC	0.438																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(2560-2562)ctC>ctT		YEATS domain containing 2							82.0	92.0	89.0					3																	183493896		2026	4192	6218	SO:0001819	synonymous_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183493896C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2562C>T	3.37:g.183493896C>T							p.L854L	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		18	2757	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		854					A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	37	c.2562C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	8.518	0.868065	0.17250	.	.	ENSG00000163872	ENST00000432781	.	.	.	5.92	2.07	0.26955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.9388	9.4887	0.38946	0.0:0.5305:0.3452:0.1244	.	.	.	.	X	40	.	.	Q	+	1	0	YEATS2	184976590	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	1.741000	0.38238	0.098000	0.17522	-0.806000	0.03193	CAA		0.438	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		11	33	0	0	0	0.002450	0	11	33				
GFOD2	81577	broad.mit.edu	37	16	67709325	67709325	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:67709325C>G	ENST00000268797.7	-	3	1236	c.891G>C	c.(889-891)caG>caC	p.Q297H	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	297					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GCGGGACATCCTGGGGCCCCT	0.667																																						ENST00000268797.7																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(889-891)caG>caC		glucose-fructose oxidoreductase domain containing 2							48.0	46.0	47.0					16																	67709325		2198	4300	6498	SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709325C>G	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.891G>C	16.37:g.67709325C>G	ENSP00000268797:p.Gln297His					GFOD2_ENST00000602377.1_5'UTR	p.Q297H	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	1236	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	297					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	c.891G>C	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638140	0.29157	.	.	ENSG00000141098	ENST00000268797	T	0.44482	0.92	5.28	1.89	0.25635	.	0.316032	0.36555	N	0.002532	T	0.25419	0.0618	N	0.22421	0.69	0.37412	D	0.913284	B	0.24576	0.106	B	0.17433	0.018	T	0.11792	-1.0573	10	0.29301	T	0.29	-17.1199	10.1886	0.43013	0.0:0.7126:0.0:0.2874	.	297	Q3B7J2	GFOD2_HUMAN	H	297	ENSP00000268797:Q297H	ENSP00000268797:Q297H	Q	-	3	2	GFOD2	66266826	0.444000	0.25649	0.992000	0.48379	0.814000	0.46013	-0.122000	0.10627	0.588000	0.29660	0.557000	0.71058	CAG		0.667	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		5	74	0	0	0	0.001168	0	5	74				
MTMR7	9108	broad.mit.edu	37	8	17228648	17228648	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:17228648G>C	ENST00000180173.5	-	3	242	c.208C>G	c.(208-210)Ctg>Gtg	p.L70V	MTMR7_ENST00000521857.1_Missense_Mutation_p.L70V	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	70					inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CGAATCAGCAGAGGGCATCCG	0.453																																						ENST00000180173.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(208-210)Ctg>Gtg		myotubularin related protein 7							183.0	164.0	171.0					8																	17228648		2203	4300	6503	SO:0001583	missense	9108						protein tyrosine phosphatase activity	g.chr8:17228648G>C	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.208C>G	8.37:g.17228648G>C	ENSP00000180173:p.Leu70Val					MTMR7_ENST00000521857.1_Missense_Mutation_p.L70V	p.L70V	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	3	242	-			70					A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	c.208C>G	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992977	0.35131	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.90955	-2.76;-2.76	5.23	5.23	0.72850	.	0.073713	0.56097	D	0.000023	D	0.88247	0.6385	M	0.64567	1.98	0.80722	D	1	B	0.21905	0.062	B	0.29598	0.104	D	0.85064	0.0936	10	0.62326	D	0.03	.	7.2065	0.25909	0.1248:0.0:0.7234:0.1517	.	70	Q9Y216	MTMR7_HUMAN	V	70	ENSP00000180173:L70V;ENSP00000429733:L70V	ENSP00000180173:L70V	L	-	1	2	MTMR7	17273019	0.998000	0.40836	1.000000	0.80357	0.795000	0.44927	2.340000	0.43974	2.602000	0.87976	0.655000	0.94253	CTG		0.453	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		6	94	0	0	0	0.001984	0	6	94				
NSMAF	8439	broad.mit.edu	37	8	59522253	59522253	+	Silent	SNP	T	T	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:59522253T>C	ENST00000038176.3	-	10	809	c.597A>G	c.(595-597)aaA>aaG	p.K199K	NSMAF_ENST00000427130.2_Silent_p.K230K|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	199	GRAM.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CCATTTCTGCTTTGCATTCCA	0.428																																						ENST00000038176.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(595-597)aaA>aaG		neutral sphingomyelinase (N-SMase) activation associated factor							104.0	96.0	99.0					8																	59522253		2203	4300	6503	SO:0001819	synonymous_variant	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59522253T>C	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.597A>G	8.37:g.59522253T>C						NSMAF_ENST00000427130.2_Silent_p.K230K|NSMAF_ENST00000519858.1_5'UTR	p.K199K	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN			10	809	-		all_lung(136;0.174)|Lung NSC(129;0.2)	199			GRAM.		B4DFB0|E9PCH0|Q8IW26	Silent	SNP	ENST00000038176.3	37	c.597A>G	CCDS6173.1																																																																																				0.428	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		57	32	0	0	0	0.014410	0	57	32				
WNT9A	7483	broad.mit.edu	37	1	228113207	228113207	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:228113207C>T	ENST00000272164.5	-	2	119	c.109G>A	c.(109-111)Gag>Aag	p.E37K		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	37					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GTCAGGGGCTCGCTGCCCGTC	0.711																																						ENST00000272164.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(109-111)Gag>Aag		wingless-type MMTV integration site family, member 9A							6.0	9.0	8.0					1																	228113207		2136	4218	6354	SO:0001583	missense	7483				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	g.chr1:228113207C>T	AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.109G>A	1.37:g.228113207C>T	ENSP00000272164:p.Glu37Lys					WNT9A_ENST00000497852.1_5'UTR	p.E37K	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN			2	119	-		Prostate(94;0.0405)	37					A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	ENST00000272164.5	37	c.109G>A	CCDS31045.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639370	0.87760	.	.	ENSG00000143816	ENST00000272164	T	0.76060	-0.99	4.73	4.73	0.59995	.	0.314292	0.20996	U	0.081955	T	0.79868	0.4520	M	0.69823	2.125	0.54753	D	0.999984	D	0.69078	0.997	P	0.51453	0.67	T	0.79612	-0.1731	10	0.33141	T	0.24	.	16.7073	0.85375	0.0:1.0:0.0:0.0	.	37	O14904	WNT9A_HUMAN	K	37	ENSP00000272164:E37K	ENSP00000272164:E37K	E	-	1	0	WNT9A	226179830	1.000000	0.71417	0.987000	0.45799	0.774000	0.43823	4.851000	0.62896	2.181000	0.69327	0.478000	0.44815	GAG		0.711	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395		7	10	0	0	0	0.001984	0	7	10				
FAM83E	54854	broad.mit.edu	37	19	49106753	49106753	+	Missense_Mutation	SNP	C	C	T	rs267605566		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:49106753C>T	ENST00000263266.3	-	4	1363	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	392										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGTCTCACCTCGTTGTCCCCA	0.706																																						ENST00000263266.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.(1174-1176)Gag>Aag		family with sequence similarity 83, member E							16.0	16.0	16.0					19																	49106753		1884	4039	5923	SO:0001583	missense	54854							g.chr19:49106753C>T	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.1174G>A	19.37:g.49106753C>T	ENSP00000263266:p.Glu392Lys						p.E392K	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	1363	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	392					Q9NXK1	Missense_Mutation	SNP	ENST00000263266.3	37	c.1174G>A	CCDS42587.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599413	0.28534	.	.	ENSG00000105523	ENST00000263266	T	0.10668	2.85	3.75	2.63	0.31362	.	1.671720	0.03754	N	0.257023	T	0.07908	0.0198	L	0.27053	0.805	0.29446	N	0.85879	P	0.47545	0.897	B	0.32724	0.151	T	0.34502	-0.9826	10	0.46703	T	0.11	-13.5315	8.8687	0.35303	0.0:0.8693:0.0:0.1307	.	392	Q2M2I3	FA83E_HUMAN	K	392	ENSP00000263266:E392K	ENSP00000263266:E392K	E	-	1	0	FAM83E	53798565	0.994000	0.37717	0.706000	0.30403	0.024000	0.10985	2.114000	0.41911	0.798000	0.33994	-0.390000	0.06520	GAG		0.706	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		12	24	0	0	0	0.002450	0	12	24				
PDGFA	5154	broad.mit.edu	37	7	552064	552064	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:552064C>G	ENST00000354513.5	-	3	581	c.189G>C	c.(187-189)ctG>ctC	p.L63L	PDGFA_ENST00000402802.3_Silent_p.L63L|PDGFA_ENST00000426681.2_5'Flank	NM_002607.5	NP_002598.4	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	63					actin cytoskeleton organization (GO:0030036)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell projection assembly (GO:0030031)|cell-cell signaling (GO:0007267)|embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|negative chemotaxis (GO:0050919)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling (GO:0060683)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of smooth muscle cell migration (GO:0014910)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|microvillus (GO:0005902)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|growth factor activity (GO:0008083)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		CGTGAGCTCTCAGGCTGGTGT	0.647																																						ENST00000402802.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(187-189)ctG>ctC		platelet-derived growth factor alpha polypeptide							65.0	62.0	63.0					7																	552064		2203	4296	6499	SO:0001819	synonymous_variant	5154				actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity	g.chr7:552064C>G		CCDS34578.1, CCDS47524.1	7p22	2008-07-18			ENSG00000197461	ENSG00000197461			8799	protein-coding gene	gene with protein product	"""PDGF A-chain"", ""platelet-derived growth factor alpha chain"""	173430				1505216, 2536956	Standard	NM_002607		Approved	PDGF1, PDGF-A	uc003sir.3	P04085	OTTHUMG00000151412	ENST00000354513.5:c.189G>C	7.37:g.552064C>G						PDGFA_ENST00000354513.5_Silent_p.L63L	p.L63L	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)	3	596	-		Ovarian(82;0.0112)	63					B5BU73	Silent	SNP	ENST00000354513.5	37	c.189G>C	CCDS34578.1	.	.	.	.	.	.	.	.	.	.	C	1.383	-0.582988	0.03827	.	.	ENSG00000197461	ENST00000400761	.	.	.	5.02	4.12	0.48240	.	.	.	.	.	T	0.58495	0.2126	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54984	-0.8211	4	.	.	.	-6.3365	8.1672	0.31233	0.0:0.7558:0.1603:0.0839	.	.	.	.	Q	70	.	.	E	-	1	0	PDGFA	518590	1.000000	0.71417	0.879000	0.34478	0.053000	0.15095	2.336000	0.43938	1.065000	0.40693	0.448000	0.29417	GAG		0.647	PDGFA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322534.1			26	79	0	0	0	0.013726	0	26	79				
ODF2L	57489	broad.mit.edu	37	1	86818601	86818601	+	Missense_Mutation	SNP	C	C	G	rs149282656	byFrequency	TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:86818601C>G	ENST00000359242.3	-	17	2115	c.1834G>C	c.(1834-1836)Gaa>Caa	p.E612Q	ODF2L_ENST00000317336.7_Missense_Mutation_p.E612Q|ODF2L_ENST00000370567.1_Missense_Mutation_p.E583Q|ODF2L_ENST00000370566.3_Missense_Mutation_p.E530Q|ODF2L_ENST00000294678.2_Missense_Mutation_p.E596Q|ODF2L_ENST00000394731.1_Missense_Mutation_p.E452Q	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	612						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		AGCTCAGTTTCCAGATCTAAT	0.279																																						ENST00000359242.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24						c.(1834-1836)Gaa>Caa		outer dense fiber of sperm tails 2-like		C	GLN/GLU,GLN/GLU,GLN/GLU,GLN/GLU	3,4397	4.2+/-10.8	0,3,2197	91.0	90.0	90.0		1834,1675,1588,1786	5.8	1.0	1	dbSNP_134	90	0,8582		0,0,4291	no	missense,missense,missense,missense	ODF2L	NM_001007022.2,NM_001184765.1,NM_001184766.1,NM_020729.2	29,29,29,29	0,3,6488	GG,GC,CC		0.0,0.0682,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	612/637,559/621,530/592,596/621	86818601	3,12979	2200	4291	6491	SO:0001583	missense	57489					centrosome		g.chr1:86818601C>G		CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1834G>C	1.37:g.86818601C>G	ENSP00000359600:p.Glu612Gln					ODF2L_ENST00000317336.7_Missense_Mutation_p.E612Q|ODF2L_ENST00000370566.3_Missense_Mutation_p.E530Q|ODF2L_ENST00000394731.1_Missense_Mutation_p.E452Q|ODF2L_ENST00000370567.1_Missense_Mutation_p.E583Q|ODF2L_ENST00000294678.2_Missense_Mutation_p.E596Q	p.E612Q	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN		all cancers(265;0.0313)|Epithelial(280;0.0611)	17	2115	-			612					A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	ENST00000359242.3	37	c.1834G>C	CCDS41354.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.678773|4.678773	0.88542|0.88542	6.82E-4|6.82E-4	0.0|0.0	ENSG00000122417|ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000462648;ENST00000294678|ENST00000459999	T;T;T;T;T;T;T;T|.	0.64085|.	0.82;0.7;0.9;0.82;0.83;0.91;-0.08;0.75|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.111463|.	0.64402|.	D|.	0.000012|.	T|T	0.74268|0.74268	0.3694|0.3694	M|M	0.77313|0.77313	2.365|2.365	0.46774|0.46774	D|D	0.999196|0.999196	D;D;D;D;D|.	0.89917|.	1.0;0.984;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.998;0.975;0.999;0.998;0.999|.	T|T	0.71991|0.71991	-0.4425|-0.4425	10|5	0.33940|.	T|.	0.23|.	-18.0992|-18.0992	19.5508|19.5508	0.95319|0.95319	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	530;559;583;596;612|.	B4E037;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1|.	.;.;.;.;ODF2L_HUMAN|.	Q|C	560;530;612;459;612;583;452;119;596|378	ENSP00000359597:E530Q;ENSP00000359600:E612Q;ENSP00000433092:E459Q;ENSP00000320165:E612Q;ENSP00000359598:E583Q;ENSP00000378219:E452Q;ENSP00000437043:E119Q;ENSP00000294678:E596Q|.	ENSP00000294678:E596Q|.	E|W	-|-	1|3	0|0	ODF2L|ODF2L	86591189|86591189	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.334000|5.334000	0.65923|0.65923	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAA|TGG		0.279	ODF2L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027873.2			23	31	0	0	0	0.002780	0	23	31				
SNHG14	104472715	broad.mit.edu	37	15	25349693	25349693	+	RNA	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:25349693C>G	ENST00000546682.1	+	0	2163				SNHG14_ENST00000549804.2_RNA|SNORD116-29_ENST00000384516.1_RNA|SNORD116-27_ENST00000516087.1_RNA|SNHG14_ENST00000516123.1_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTGCTGGTCTCCATGATTGAA	0.453																																						ENST00000546682.1																			0																																																			104472715							g.chr15:25349693C>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25349693C>G						SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA		NR_003361.1						0	2163	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.453	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			2	3	0	0	0	0.004672	0	2	3				
FAM19A3	284467	broad.mit.edu	37	1	113265703	113265703	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:113265703G>A	ENST00000361886.3	+	3	240	c.181G>A	c.(181-183)Gag>Aag	p.E61K	FAM19A3_ENST00000369630.3_Missense_Mutation_p.E61K	NM_001004440.1|NM_182759.2	NP_001004440.1|NP_877436.1	Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	61						extracellular region (GO:0005576)		p.N56_R63delNRNRIEER(1)		lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAACCGCATCGAGGAGCGCTC	0.657																																						ENST00000369630.3																			1	Deletion - In frame(1)	p.N56_R63delNRNRIEER(1)	ovary(1)	lung(4)|ovary(1)	5						c.(181-183)Gag>Aag		family with sequence similarity 19 (chemokine (C-C motif)-like), member A3							42.0	38.0	39.0					1																	113265703		2203	4300	6503	SO:0001583	missense	284467					extracellular region		g.chr1:113265703G>A	AY325119	CCDS856.1, CCDS30806.1	1p13.2	2008-02-05			ENSG00000184599	ENSG00000184599			21590	protein-coding gene	gene with protein product						15028294	Standard	NM_182759		Approved	TAFA-3	uc001ecu.3	Q7Z5A8	OTTHUMG00000012020	ENST00000361886.3:c.181G>A	1.37:g.113265703G>A	ENSP00000355042:p.Glu61Lys					FAM19A3_ENST00000361886.3_Missense_Mutation_p.E61K	p.E61K			Q7Z5A8	F19A3_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	398	+	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	61					B7ZLU0|Q2M1P9|Q7Z5A6	Missense_Mutation	SNP	ENST00000361886.3	37	c.181G>A	CCDS856.1	.	.	.	.	.	.	.	.	.	.	G	37	6.055208	0.97241	.	.	ENSG00000184599	ENST00000369630;ENST00000361886	.	.	.	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.80949	0.4722	M	0.77103	2.36	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.81540	-0.0886	9	0.66056	D	0.02	-16.3026	19.6803	0.95960	0.0:0.0:1.0:0.0	.	61;61	Q7Z5A8;Q7Z5A8-2	F19A3_HUMAN;.	K	61	.	ENSP00000355042:E61K	E	+	1	0	FAM19A3	113067226	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	9.858000	0.99539	2.756000	0.94617	0.561000	0.74099	GAG		0.657	FAM19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033255.1	NM_182759		16	22	0	0	0	0.003163	0	16	22				
C5orf51	285636	broad.mit.edu	37	5	41904484	41904484	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:41904484C>G	ENST00000381647.2	+	1	34	c.15C>G	c.(13-15)gtC>gtG	p.V5V	C5orf51_ENST00000505931.2_Intron	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	5										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CGGCCGCAGTCTCTAGTGTGG	0.667																																						ENST00000381647.2																			0				endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(13-15)gtC>gtG		chromosome 5 open reading frame 51							26.0	28.0	27.0					5																	41904484		2201	4298	6499	SO:0001819	synonymous_variant	285636							g.chr5:41904484C>G	AL833916, AK094002	CCDS34151.1	5p13.1	2008-07-18			ENSG00000205765	ENSG00000205765			27750	protein-coding gene	gene with protein product						14702039	Standard	NM_175921		Approved	LOC285636	uc003jmo.3	A6NDU8	OTTHUMG00000162084	ENST00000381647.2:c.15C>G	5.37:g.41904484C>G						C5orf51_ENST00000505931.2_Intron	p.V5V	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN			1	34	+			5					A2RRM9	Silent	SNP	ENST00000381647.2	37	c.15C>G	CCDS34151.1																																																																																				0.667	C5orf51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367144.1	NM_175921		22	39	0	0	0	0.003954	0	22	39				
CYFIP1	23191	broad.mit.edu	37	15	22997806	22997806	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:22997806G>C	ENST00000313077.7	+	27	3177	c.3052G>C	c.(3052-3054)Gaa>Caa	p.E1018Q	CYFIP1_ENST00000435939.2_Missense_Mutation_p.E587Q|CYFIP1_ENST00000560848.1_Missense_Mutation_p.E1018Q	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GTCTTTAGAAGAAGTGTGTGA	0.527																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(3052-3054)Gaa>Caa		cytoplasmic FMR1 interacting protein 1							195.0	190.0	192.0					15																	22997806		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22997806G>C	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.3052G>C	15.37:g.22997806G>C	ENSP00000324549:p.Glu1018Gln					CYFIP1_ENST00000435939.2_Missense_Mutation_p.E587Q|CYFIP1_ENST00000560848.1_Missense_Mutation_p.E1018Q	p.E1018Q	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	27	3177	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	1018						Missense_Mutation	SNP	ENST00000313077.7	37	c.3052G>C	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736364	0.69189	.	.	ENSG00000068793	ENST00000313077;ENST00000435939	T;T	0.26373	1.74;1.74	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000001	T	0.59609	0.2206	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.988	T	0.64935	-0.6290	10	0.66056	D	0.02	.	19.7152	0.96115	0.0:0.0:1.0:0.0	.	587;1018	Q7L576-2;Q7L576	.;CYFP1_HUMAN	Q	1018;587	ENSP00000324549:E1018Q;ENSP00000405956:E587Q	ENSP00000324549:E1018Q	E	+	1	0	CYFIP1	20549247	1.000000	0.71417	0.999000	0.59377	0.043000	0.13939	9.509000	0.98002	2.733000	0.93635	0.591000	0.81541	GAA		0.527	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		98	170	0	0	0	0.014410	0	98	170				
DAB2IP	153090	broad.mit.edu	37	9	124530800	124530800	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr9:124530800C>G	ENST00000408936.3	+	10	1969	c.1787C>G	c.(1786-1788)tCc>tGc	p.S596C	DAB2IP_ENST00000259371.2_Missense_Mutation_p.S568C|DAB2IP_ENST00000309989.1_Missense_Mutation_p.S472C			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	596					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGGAGATCTCCAACCCCGAG	0.587																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1786-1788)tCc>tGc		DAB2 interacting protein							123.0	112.0	116.0					9																	124530800		2203	4300	6503	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124530800C>G	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1787C>G	9.37:g.124530800C>G	ENSP00000386183:p.Ser596Cys					DAB2IP_ENST00000309989.1_Missense_Mutation_p.S472C|DAB2IP_ENST00000259371.2_Missense_Mutation_p.S568C	p.S596C			Q5VWQ8	DAB2P_HUMAN			10	1969	+			596					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.1787C>G		.	.	.	.	.	.	.	.	.	.	C	27.9	4.873550	0.91664	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	4.82	4.82	0.62117	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.114616	0.64402	D	0.000009	T	0.53270	0.1786	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62959	-0.6743	10	0.87932	D	0	.	17.278	0.87121	0.0:1.0:0.0:0.0	.	596;568	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	C	568;596;505;472	ENSP00000259371:S568C;ENSP00000386183:S596C;ENSP00000362887:S505C;ENSP00000310827:S472C	ENSP00000259371:S568C	S	+	2	0	DAB2IP	123570621	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.818000	0.86416	2.391000	0.81399	0.557000	0.71058	TCC		0.587	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		5	141	0	0	0	0.001984	0	5	141				
MFSD6	54842	broad.mit.edu	37	2	191362379	191362379	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:191362379C>G	ENST00000392328.1	+	7	2430	c.2106C>G	c.(2104-2106)ctC>ctG	p.L702L	MFSD6_ENST00000281416.7_Silent_p.L702L|MFSD6_ENST00000535751.1_Silent_p.L164L	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	702					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TCTATGCACTCTACCAAATTA	0.463																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(2104-2106)ctC>ctG		major facilitator superfamily domain containing 6							138.0	128.0	131.0					2																	191362379		2203	4300	6503	SO:0001819	synonymous_variant	54842				transmembrane transport	integral to membrane		g.chr2:191362379C>G		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.2106C>G	2.37:g.191362379C>G						MFSD6_ENST00000535751.1_Silent_p.L164L|MFSD6_ENST00000281416.7_Silent_p.L702L	p.L702L	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			7	2430	+			702					D3KSZ4|Q86TH2|Q9NXM3	Silent	SNP	ENST00000392328.1	37	c.2106C>G	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	C	8.724	0.915083	0.17907	.	.	ENSG00000151690	ENST00000434582	T	0.53640	0.61	5.07	0.0622	0.14344	.	0.247626	0.41712	D	0.000839	T	0.46483	0.1395	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28870	-1.0030	7	0.39692	T	0.17	-22.7819	7.1435	0.25570	0.0:0.6191:0.1177:0.2632	.	.	.	.	V	238	ENSP00000397276:L238V	ENSP00000397276:L238V	L	+	1	2	MFSD6	191070624	1.000000	0.71417	0.977000	0.42913	0.983000	0.72400	0.800000	0.27042	0.017000	0.15025	0.650000	0.86243	CTA		0.463	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			33	26	0	0	0	0.010818	0	33	26				
RBBP8	5932	broad.mit.edu	37	18	20562197	20562197	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr18:20562197C>G	ENST00000399722.2	+	7	796	c.445C>G	c.(445-447)Caa>Gaa	p.Q149E	RBBP8_ENST00000399725.2_Missense_Mutation_p.Q149E|RBBP8_ENST00000360790.5_Missense_Mutation_p.Q149E|RBBP8_ENST00000327155.5_Missense_Mutation_p.Q149E	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	149					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TCAACAGCATCAAGCAGCTGA	0.403								Homologous recombination																														ENST00000399722.2																			0				central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(445-447)Caa>Gaa	Homologous recombination	retinoblastoma binding protein 8							102.0	86.0	91.0					18																	20562197		2203	4300	6503	SO:0001583	missense	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20562197C>G	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.445C>G	18.37:g.20562197C>G	ENSP00000382628:p.Gln149Glu					RBBP8_ENST00000327155.5_Missense_Mutation_p.Q149E|RBBP8_ENST00000399725.2_Missense_Mutation_p.Q149E|RBBP8_ENST00000360790.5_Missense_Mutation_p.Q149E|RBBP8_ENST00000585177.1_3'UTR	p.Q149E	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		7	796	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		149					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	ENST00000399722.2	37	c.445C>G	CCDS11875.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322599	0.23994	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	T;T;T;T;T	0.31247	1.52;1.5;1.52;1.52;1.52	5.79	0.671	0.17929	.	0.937318	0.09022	N	0.860045	T	0.28101	0.0693	M	0.62723	1.935	0.09310	N	1	B;B;B	0.23442	0.014;0.085;0.014	B;B;B	0.22386	0.006;0.039;0.006	T	0.29792	-1.0000	10	0.33940	T	0.23	-0.7257	5.6212	0.17457	0.3947:0.4617:0.0:0.1436	.	149;149;149	E7ETY1;A6NKN2;Q99708	.;.;COM1_HUMAN	E	149	ENSP00000323050:Q149E;ENSP00000382630:Q149E;ENSP00000382628:Q149E;ENSP00000382627:Q149E;ENSP00000354024:Q149E	ENSP00000323050:Q149E	Q	+	1	0	RBBP8	18816195	0.971000	0.33674	0.037000	0.18230	0.656000	0.38851	0.432000	0.21461	0.082000	0.17018	0.561000	0.74099	CAA		0.403	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		15	21	0	0	0	0.004007	0	15	21				
GSTO1	9446	broad.mit.edu	37	10	106019428	106019428	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr10:106019428G>A	ENST00000369713.5	+	3	432	c.238G>A	c.(238-240)Ggt>Agt	p.G80S	GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Missense_Mutation_p.G80S|GSTO1_ENST00000539281.1_Missense_Mutation_p.G52S	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	80	GST N-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014810)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)|Vitamin E(DB00163)	AAACAGTCAGGGTCAGCTGAT	0.468																																						ENST00000539281.1																			0				large_intestine(1)|lung(1)|stomach(1)	3						c.(154-156)Ggt>Agt		glutathione S-transferase omega 1	Glutathione(DB00143)						105.0	105.0	105.0					10																	106019428		2203	4300	6503	SO:0001583	missense	9446				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity	g.chr10:106019428G>A	AF212303	CCDS7555.1, CCDS53572.1, CCDS53573.1	10q25.1	2012-06-21			ENSG00000148834	ENSG00000148834	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	13312	protein-coding gene	gene with protein product		605482				10783391, 12618591	Standard	NM_004832		Approved	GSTTLp28, P28	uc001kya.3	P78417	OTTHUMG00000019001	ENST00000369713.5:c.238G>A	10.37:g.106019428G>A	ENSP00000358727:p.Gly80Ser					GSTO1_ENST00000369710.4_Missense_Mutation_p.G80S|GSTO1_ENST00000369713.5_Missense_Mutation_p.G80S|GSTO1_ENST00000493946.1_3'UTR	p.G52S	NM_001191003.1	NP_001177932.1	P78417	GSTO1_HUMAN		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	3	510	+		Colorectal(252;0.102)|Breast(234;0.122)	80			GST N-terminal.		D3DRA3|F5H7H0|Q5TA03|Q7Z3T2	Missense_Mutation	SNP	ENST00000369713.5	37	c.154G>A	CCDS7555.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616492	0.87359	.	.	ENSG00000148834	ENST00000539281;ENST00000369710;ENST00000369713;ENST00000445155;ENST00000432659	T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21	5.53	5.53	0.82687	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.84156	2.68	0.80722	D	1	D	0.60575	0.988	D	0.63381	0.914	T	0.66224	-0.5977	10	0.56958	D	0.05	-9.7245	19.8195	0.96586	0.0:0.0:1.0:0.0	.	80	P78417	GSTO1_HUMAN	S	52;80;80;52;52	ENSP00000441488:G52S;ENSP00000358724:G80S;ENSP00000358727:G80S;ENSP00000406708:G52S;ENSP00000405325:G52S	ENSP00000358724:G80S	G	+	1	0	GSTO1	106009418	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.575000	0.82447	2.757000	0.94681	0.563000	0.77884	GGT		0.468	GSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050193.1	NM_004832		43	63	0	0	0	0.010771	0	43	63				
PPP1R2	5504	broad.mit.edu	37	3	195243706	195243706	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:195243706T>A	ENST00000328432.3	-	6	966	c.606A>T	c.(604-606)ttA>ttT	p.L202F		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	202					generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		ATGAACTTCGTAATTTGTTTT	0.358																																						ENST00000328432.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6						c.(604-606)ttA>ttT		protein phosphatase 1, regulatory (inhibitor) subunit 2							146.0	136.0	139.0					3																	195243706		2202	4300	6502	SO:0001583	missense	5504				glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity	g.chr3:195243706T>A	U68111	CCDS3309.1	3q29	2012-04-17			ENSG00000184203	ENSG00000184203	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9288	protein-coding gene	gene with protein product		601792				9126490, 8119416	Standard	XM_006713682		Approved	IPP2	uc003fup.3	P41236	OTTHUMG00000155887	ENST00000328432.3:c.606A>T	3.37:g.195243706T>A	ENSP00000328178:p.Leu202Phe						p.L202F	NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)	6	966	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		202						Missense_Mutation	SNP	ENST00000328432.3	37	c.606A>T	CCDS3309.1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.481352	0.26598	.	.	ENSG00000184203	ENST00000328432	.	.	.	5.77	1.74	0.24563	.	0.644054	0.13798	N	0.362036	T	0.16685	0.0401	N	0.14661	0.345	0.22112	N	0.999351	B	0.11235	0.004	B	0.04013	0.001	T	0.17258	-1.0375	9	0.25751	T	0.34	.	2.2916	0.04140	0.1549:0.0843:0.1612:0.5996	.	202	P41236	IPP2_HUMAN	F	202	.	ENSP00000328178:L202F	L	-	3	2	PPP1R2	196724995	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	0.689000	0.25437	0.505000	0.28104	0.528000	0.53228	TTA		0.358	PPP1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342133.1	NM_006241		29	27	0	0	0	0.003271	0	29	27				
SHANK2	22941	broad.mit.edu	37	11	70332212	70332212	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:70332212G>T	ENST00000423696.2	-	15	3085	c.3049C>A	c.(3049-3051)Ctg>Atg	p.L1017M	SHANK2_ENST00000409161.1_Missense_Mutation_p.L800M|SHANK2_ENST00000338508.4_Missense_Mutation_p.L1397M|SHANK2_ENST00000449833.2_Missense_Mutation_p.L801M			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1017					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACGGATGCCAGAGGGGGAGGA	0.582																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4189-4191)Ctg>Atg		SH3 and multiple ankyrin repeat domains 2							54.0	62.0	59.0					11																	70332212		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70332212G>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3049C>A	11.37:g.70332212G>T	ENSP00000394536:p.Leu1017Met					SHANK2_ENST00000423696.2_Missense_Mutation_p.L1017M|SHANK2_ENST00000409161.1_Missense_Mutation_p.L800M|SHANK2_ENST00000449833.2_Missense_Mutation_p.L801M	p.L1397M			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	4188	-			1017					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4189C>A		.	.	.	.	.	.	.	.	.	.	G	14.92	2.679769	0.47886	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	5.66	3.77	0.43336	.	0.066161	0.64402	D	0.000007	T	0.50343	0.1610	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.997	D;D;D	0.76575	0.921;0.988;0.964	T	0.50127	-0.8864	10	0.62326	D	0.03	.	8.4689	0.32973	0.2762:0.0:0.7238:0.0	.	1017;1396;801	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	M	801;800;675;1397;1017;1035;1020	ENSP00000399423:L801M;ENSP00000386491:L800M;ENSP00000402944:L675M;ENSP00000345193:L1397M;ENSP00000394536:L1017M;ENSP00000294018:L1020M	ENSP00000294018:L1020M	L	-	1	2	SHANK2	70009860	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	2.629000	0.46485	2.665000	0.90641	0.655000	0.94253	CTG		0.582	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		34	457	1	0	4.92203e-23	0.006230	5.29082e-23	34	457				
MTUS1	57509	broad.mit.edu	37	8	17613105	17613105	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:17613105G>A	ENST00000262102.6	-	2	436	c.212C>T	c.(211-213)tCt>tTt	p.S71F	MTUS1_ENST00000381862.3_Missense_Mutation_p.S71F|MTUS1_ENST00000519263.1_Missense_Mutation_p.S71F|MTUS1_ENST00000381869.3_Missense_Mutation_p.S71F	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	71					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S71Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AAGGCTTAAAGAAATATTTTC	0.388																																						ENST00000381869.3																			1	Substitution - Missense(1)	p.S71Y(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(211-213)tCt>tTt		microtubule associated tumor suppressor 1							130.0	122.0	124.0					8																	17613105		1855	4100	5955	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17613105G>A	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.212C>T	8.37:g.17613105G>A	ENSP00000262102:p.Ser71Phe					MTUS1_ENST00000519263.1_Missense_Mutation_p.S71F|MTUS1_ENST00000381862.3_Missense_Mutation_p.S71F|MTUS1_ENST00000262102.6_Missense_Mutation_p.S71F	p.S71F	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	685	-			71					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.212C>T	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	g	15.62	2.886182	0.51908	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.26373	2.7;2.74;2.7;1.74	3.98	3.98	0.46160	.	1.154810	0.06452	N	0.727851	T	0.37812	0.1017	L	0.27053	0.805	0.09310	N	1	D;D;D	0.69078	0.997;0.971;0.971	D;P;P	0.66979	0.948;0.839;0.839	T	0.36040	-0.9764	10	0.87932	D	0	-0.5216	9.896	0.41318	0.0997:0.0:0.9003:0.0	.	71;71;71	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	F	71	ENSP00000371293:S71F;ENSP00000262102:S71F;ENSP00000430167:S71F;ENSP00000371286:S71F	ENSP00000262102:S71F	S	-	2	0	MTUS1	17657385	0.415000	0.25416	0.027000	0.17364	0.147000	0.21601	1.089000	0.30890	2.495000	0.84180	0.558000	0.71614	TCT		0.388	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		6	76	0	0	0	0.001168	0	6	76				
ARAP2	116984	broad.mit.edu	37	4	36130348	36130348	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr4:36130348G>C	ENST00000303965.4	-	21	3936	c.3447C>G	c.(3445-3447)atC>atG	p.I1149M		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1149	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCTTTTGATAGATATATTTGC	0.294																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(3445-3447)atC>atG		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							61.0	60.0	60.0					4																	36130348		2203	4300	6503	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36130348G>C	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3447C>G	4.37:g.36130348G>C	ENSP00000302895:p.Ile1149Met						p.I1149M	NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN			21	3936	-			1149			Rho-GAP.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.3447C>G	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518229	0.44763	.	.	ENSG00000047365	ENST00000303965	T	0.37752	1.18	5.54	2.88	0.33553	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.134033	0.50627	D	0.000112	T	0.58750	0.2144	M	0.89840	3.065	0.46203	D	0.998928	D	0.76494	0.999	D	0.77557	0.99	T	0.56420	-0.7982	10	0.87932	D	0	.	2.7886	0.05381	0.205:0.1229:0.5455:0.1265	.	1149	Q8WZ64	ARAP2_HUMAN	M	1149	ENSP00000302895:I1149M	ENSP00000302895:I1149M	I	-	3	3	ARAP2	35806743	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	2.436000	0.44819	0.290000	0.22444	-0.808000	0.03180	ATC		0.294	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		25	44	0	0	0	0.003954	0	25	44				
NLRC4	58484	broad.mit.edu	37	2	32476659	32476659	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:32476659G>C	ENST00000404025.2	-	5	762	c.274C>G	c.(274-276)Cag>Gag	p.Q92E	NLRC4_ENST00000402280.1_Missense_Mutation_p.Q92E|NLRC4_ENST00000360906.5_Missense_Mutation_p.Q92E|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	92					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCTGATGTCTGATGAAAAAGA	0.433																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(274-276)Cag>Gag		NLR family, CARD domain containing 4							49.0	52.0	51.0					2																	32476659		2187	4281	6468	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476659G>C	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.274C>G	2.37:g.32476659G>C	ENSP00000385090:p.Gln92Glu					NLRC4_ENST00000360906.5_Missense_Mutation_p.Q92E|NLRC4_ENST00000402280.1_Missense_Mutation_p.Q92E|NLRC4_ENST00000342905.6_Intron	p.Q92E			Q9NPP4	NLRC4_HUMAN			5	762	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		92					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.274C>G	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	5.957	0.360612	0.11296	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.51817	0.69;0.69;0.69	3.36	2.48	0.30137	.	0.337904	0.20747	N	0.086430	T	0.23330	0.0564	L	0.27053	0.805	0.25496	N	0.987598	B	0.25105	0.118	B	0.24006	0.05	T	0.25117	-1.0141	9	0.02654	T	1	-10.1347	2.2544	0.04052	0.1156:0.1896:0.5007:0.1941	.	92	Q9NPP4	NLRC4_HUMAN	E	92	ENSP00000354159:Q92E;ENSP00000385428:Q92E;ENSP00000385090:Q92E	ENSP00000354159:Q92E	Q	-	1	0	NLRC4	32330163	0.757000	0.28394	0.003000	0.11579	0.000000	0.00434	2.116000	0.41930	0.750000	0.32877	-0.300000	0.09419	CAG		0.433	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		25	48	0	0	0	0.005443	0	25	48				
FAM161A	84140	broad.mit.edu	37	2	62067353	62067353	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:62067353G>A	ENST00000405894.3	-	3	887	c.786C>T	c.(784-786)atC>atT	p.I262I	FAM161A_ENST00000404929.1_Silent_p.I262I	NM_032180.2	NP_115556.2	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	262					cilium assembly (GO:0042384)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)		p.I153I(1)|p.I262I(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTACCATTTCGATATCTGATT	0.393																																						ENST00000404929.1																			2	Substitution - coding silent(2)	p.I153I(1)|p.I262I(1)	large_intestine(2)	breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(784-786)atC>atT		family with sequence similarity 161, member A							194.0	170.0	177.0					2																	62067353		1820	4086	5906	SO:0001819	synonymous_variant	84140				response to stimulus|visual perception	centrosome		g.chr2:62067353G>A		CCDS42687.2, CCDS56120.1	2p15	2011-03-15			ENSG00000170264	ENSG00000170264			25808	protein-coding gene	gene with protein product		613596	"""retinitis pigmentosa 28 (autosomal recessive)"""	RP28		10507729, 20705278, 20705279	Standard	NM_032180		Approved	FLJ13305	uc002sbm.4	Q3B820	OTTHUMG00000152165	ENST00000405894.3:c.786C>T	2.37:g.62067353G>A						FAM161A_ENST00000405894.3_Silent_p.I262I	p.I262I	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN			3	797	-			262					B4DJV7|Q9H8R2	Silent	SNP	ENST00000405894.3	37	c.786C>T	CCDS42687.2																																																																																				0.393	FAM161A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325537.2	NM_032180		37	69	0	0	0	0.005524	0	37	69				
TBX19	9095	broad.mit.edu	37	1	168281973	168281973	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:168281973C>T	ENST00000367821.3	+	8	1131	c.1080C>T	c.(1078-1080)agC>agT	p.S360S	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	360					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GGACCATCAGCAATGGTGCCG	0.617																																						ENST00000367821.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34						c.(1078-1080)agC>agT		T-box 19							56.0	59.0	58.0					1																	168281973		2203	4300	6503	SO:0001819	synonymous_variant	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168281973C>T	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.1080C>T	1.37:g.168281973C>T						TBX19_ENST00000465440.1_3'UTR	p.S360S	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN			8	1131	+	all_hematologic(923;0.215)		360					Q52M53	Silent	SNP	ENST00000367821.3	37	c.1080C>T	CCDS1272.1	.	.	.	.	.	.	.	.	.	.	C	9.065	0.995565	0.19043	.	.	ENSG00000143178	ENST00000431969;ENST00000441464	.	.	.	5.47	0.975	0.19721	.	.	.	.	.	.	.	.	.	.	.	0.30907	N	0.729093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8363	0.18609	0.0:0.5887:0.145:0.2663	.	.	.	.	X	230;193	.	.	Q	+	1	0	TBX19	166548597	1.000000	0.71417	0.972000	0.41901	0.765000	0.43378	0.487000	0.22356	0.665000	0.31066	0.655000	0.94253	CAA		0.617	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		35	83	0	0	0	0.006999	0	35	83				
CSTF3	1479	broad.mit.edu	37	11	33182907	33182907	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:33182907G>C	ENST00000323959.4	-	0	104				CSTF3-AS1_ENST00000531870.1_RNA|CSTF3-AS1_ENST00000500025.2_RNA|CSTF3_ENST00000431742.2_De_novo_Start_OutOfFrame|CSTF3_ENST00000526480.1_5'UTR|CSTF3_ENST00000438862.2_De_novo_Start_OutOfFrame|CSTF3_ENST00000524827.1_De_novo_Start_OutOfFrame	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ACTGACCGTCGATGGGAAGCT	0.557											OREG0020867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19								cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							105.0	85.0	92.0					11																	33182907		2202	4298	6500			1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33182907G>C	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.-36C>G	11.37:g.33182907G>C			OREG0020867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	838	CSTF3_ENST00000438862.2_De_novo_Start_OutOfFrame|CSTF3_ENST00000526480.1_5'UTR|CSTF3_ENST00000524827.1_De_novo_Start_OutOfFrame|CSTF3_ENST00000431742.2_De_novo_Start_OutOfFrame		NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			0	104	-								A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Translation_Start_Site	SNP	ENST00000323959.4	37		CCDS7883.1																																																																																				0.557	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		23	20	0	0	0	0.004656	0	23	20				
CHD9	80205	broad.mit.edu	37	16	53260306	53260306	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:53260306G>C	ENST00000398510.3	+	4	2012	c.1925G>C	c.(1924-1926)aGa>aCa	p.R642T	CHD9_ENST00000566029.1_Missense_Mutation_p.R642T|CHD9_ENST00000564845.1_Missense_Mutation_p.R642T|CHD9_ENST00000447540.1_Missense_Mutation_p.R642T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	642	Lys-rich.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAAATTAAAAGAAAAAAATAC	0.289																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(1924-1926)aGa>aCa		chromodomain helicase DNA binding protein 9							52.0	50.0	50.0					16																	53260306		1788	4060	5848	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53260306G>C	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1925G>C	16.37:g.53260306G>C	ENSP00000381522:p.Arg642Thr					CHD9_ENST00000564845.1_Missense_Mutation_p.R642T|CHD9_ENST00000447540.1_Missense_Mutation_p.R642T|CHD9_ENST00000398510.3_Missense_Mutation_p.R642T	p.R642T			Q3L8U1	CHD9_HUMAN			5	2134	+		all_cancers(37;0.0212)	642			Lys-rich.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.1925G>C		.	.	.	.	.	.	.	.	.	.	G	31	5.062948	0.93898	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.67345	-0.26;-0.26	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000003	T	0.81550	0.4846	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.981;0.989	D;D;D;D	0.83275	0.979;0.996;0.966;0.985	T	0.81061	-0.1103	10	0.51188	T	0.08	-15.7718	19.6765	0.95936	0.0:0.0:1.0:0.0	.	168;642;642;642	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	T	642;642;168	ENSP00000396345:R642T;ENSP00000381522:R642T	ENSP00000219084:R168T	R	+	2	0	CHD9	51817807	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.074000	0.93998	2.644000	0.89710	0.655000	0.94253	AGA		0.289	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		16	24	0	0	0	0.003163	0	16	24				
APOB	338	broad.mit.edu	37	2	21232316	21232316	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:21232316G>T	ENST00000233242.1	-	26	7551	c.7424C>A	c.(7423-7425)gCc>gAc	p.A2475D		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2475					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCAACTGTGGCCTTGGTTTC	0.418																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(7423-7425)gCc>gAc		apolipoprotein B	Atorvastatin(DB01076)						177.0	172.0	173.0					2																	21232316		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21232316G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7424C>A	2.37:g.21232316G>T	ENSP00000233242:p.Ala2475Asp						p.A2475D	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	7551	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2475					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.7424C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	9.058	0.993700	0.19043	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00776	5.71	5.36	1.51	0.23008	.	0.742691	0.12223	N	0.488195	T	0.01029	0.0034	L	0.56769	1.78	0.09310	N	0.999998	B	0.18741	0.03	B	0.14578	0.011	T	0.46665	-0.9175	10	0.66056	D	0.02	.	3.6658	0.08255	0.2894:0.0:0.4391:0.2715	.	2475	P04114	APOB_HUMAN	D	2475	ENSP00000233242:A2475D	ENSP00000233242:A2475D	A	-	2	0	APOB	21085821	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.085000	0.11250	-0.005000	0.14395	0.462000	0.41574	GCC		0.418	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			26	107	1	0	2.65835e-16	0.007291	2.84116e-16	26	107				
RNF208	727800	broad.mit.edu	37	9	140114909	140114909	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr9:140114909C>T	ENST00000392827.1	-	2	924	c.756G>A	c.(754-756)cgG>cgA	p.R252R	RNF208_ENST00000391553.1_Silent_p.R252R			Q9H0X6	RN208_HUMAN	ring finger protein 208	252					protein autoubiquitination (GO:0051865)		ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ACAGTGGGTTCCGCACGTGGC	0.701																																						ENST00000392827.1																			0				lung(1)	1						c.(754-756)cgG>cgA		ring finger protein 208							20.0	24.0	23.0					9																	140114909		2179	4280	6459	SO:0001819	synonymous_variant	727800						zinc ion binding	g.chr9:140114909C>T	AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864		"""RING-type (C3HC4) zinc fingers"""	25420	protein-coding gene	gene with protein product						11230166	Standard	NM_031297		Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.756G>A	9.37:g.140114909C>T						RNF208_ENST00000391553.1_Silent_p.R252R	p.R252R			Q9H0X6	RN208_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	2	924	-	all_cancers(76;0.0926)		252					A2BFA0	Silent	SNP	ENST00000392827.1	37	c.756G>A	CCDS7037.2																																																																																				0.701	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1	NM_031297		17	8	0	0	0	0.006122	0	17	8				
LAMB1	3912	broad.mit.edu	37	7	107601753	107601753	+	Silent	SNP	C	C	T	rs537148295		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:107601753C>T	ENST00000222399.6	-	17	2237	c.2007G>A	c.(2005-2007)ccG>ccA	p.P669P	LAMB1_ENST00000393560.1_Silent_p.P669P|LAMB1_ENST00000393561.1_Silent_p.P693P	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	669	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						CAAAGCACACCGGCCGAGGAA	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		17193	0.0		0.0	False		,,,				2504	0.001					ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(2077-2079)ccG>ccA		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						94.0	87.0	90.0					7																	107601753		2203	4300	6503	SO:0001819	synonymous_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107601753C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.2007G>A	7.37:g.107601753C>T						LAMB1_ENST00000393560.1_Silent_p.P669P|LAMB1_ENST00000222399.6_Silent_p.P669P	p.P693P			P07942	LAMB1_HUMAN			15	2263	-			669			Laminin IV type B.		Q14D91	Silent	SNP	ENST00000222399.6	37	c.2079G>A	CCDS5750.1																																																																																				0.463	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		9	55	0	0	0	0.008291	0	9	55				
ITGB1BP2	26548	broad.mit.edu	37	X	70524109	70524109	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chrX:70524109C>T	ENST00000373829.3	+	9	785	c.712C>T	c.(712-714)Cca>Tca	p.P238S	ITGB1BP2_ENST00000538820.1_Missense_Mutation_p.P220S|ITGB1BP2_ENST00000465388.1_3'UTR	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	238	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					TGGCCAGATTCCACTTCCTGC	0.473																																						ENST00000538820.1																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14						c.(658-660)Cca>Tca		integrin beta 1 binding protein (melusin) 2							135.0	100.0	112.0					X																	70524109		2203	4300	6503	SO:0001583	missense	26548				muscle organ development|signal transduction		SH3 domain binding	g.chrX:70524109C>T	AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.712C>T	X.37:g.70524109C>T	ENSP00000362935:p.Pro238Ser					ITGB1BP2_ENST00000465388.1_3'UTR|ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.P238S	p.P220S			Q9UKP3	ITBP2_HUMAN			8	998	+	Renal(35;0.156)		238			CS.		Q32N04|Q549J7	Missense_Mutation	SNP	ENST00000373829.3	37	c.658C>T	CCDS14411.1	.	.	.	.	.	.	.	.	.	.	C	0.093	-1.164516	0.01673	.	.	ENSG00000147166	ENST00000373829;ENST00000538820	T;T	0.13538	2.58;2.58	5.13	5.13	0.70059	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.224334	0.41823	D	0.000804	T	0.13157	0.0319	N	0.05574	-0.02	0.37456	D	0.915002	D;B	0.55605	0.972;0.261	P;B	0.59012	0.85;0.247	T	0.27020	-1.0086	10	0.11182	T	0.66	-6.2603	12.5966	0.56474	0.0:1.0:0.0:0.0	.	220;238	Q32N04;Q9UKP3	.;ITBP2_HUMAN	S	238;220	ENSP00000362935:P238S;ENSP00000440289:P220S	ENSP00000362935:P238S	P	+	1	0	ITGB1BP2	70440834	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	3.618000	0.54188	2.368000	0.80403	0.600000	0.82982	CCA		0.473	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057126.1	NM_012278		46	13	0	0	0	0.014410	0	46	13				
SLC5A3	6526	broad.mit.edu	37	21	35467896	35467896	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr21:35467896C>G	ENST00000381151.3	+	2	911	c.399C>G	c.(397-399)ctC>ctG	p.L133L	MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA|SLC5A3_ENST00000608209.1_Silent_p.L133L			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	133					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CTCTGATTCTCTATATTTTCA	0.448																																						ENST00000381151.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(397-399)ctC>ctG		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							181.0	187.0	185.0					21																	35467896		2203	4300	6503	SO:0001819	synonymous_variant	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35467896C>G		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.399C>G	21.37:g.35467896C>G						MRPS6_ENST00000399312.2_Intron	p.L133L	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	911	+			133					O43489	Silent	SNP	ENST00000381151.3	37	c.399C>G	CCDS33549.1																																																																																				0.448	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			92	170	0	0	0	0.014410	0	92	170				
ME1	4199	broad.mit.edu	37	6	83921771	83921771	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:83921771G>A	ENST00000369705.3	-	14	1707	c.1591C>T	c.(1591-1593)Cct>Tct	p.P531S	ME1_ENST00000541327.1_Missense_Mutation_p.P365S|ME1_ENST00000543031.1_Missense_Mutation_p.P456S	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	531					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		TGCGGTTCAGGATAAACTGTG	0.358																																						ENST00000369705.3																			0				NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1591-1593)Cct>Tct		malic enzyme 1, NADP(+)-dependent, cytosolic	NADH(DB00157)						143.0	136.0	138.0					6																	83921771		2203	4300	6503	SO:0001583	missense	4199				carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	g.chr6:83921771G>A	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.1591C>T	6.37:g.83921771G>A	ENSP00000358719:p.Pro531Ser					ME1_ENST00000541327.1_Missense_Mutation_p.P365S|ME1_ENST00000543031.1_Missense_Mutation_p.P456S	p.P531S	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0641)	14	1707	-		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)	531					B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	37	c.1591C>T	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491285	0.64074	.	.	ENSG00000065833	ENST00000369705;ENST00000540036;ENST00000541327;ENST00000543031	T;T;T	0.42900	0.96;0.96;0.96	5.86	5.86	0.93980	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58584	-0.7611	10	0.37606	T	0.19	-9.9667	18.9687	0.92707	0.0:0.0:1.0:0.0	.	531	P48163	MAOX_HUMAN	S	531;191;365;456	ENSP00000358719:P531S;ENSP00000439912:P365S;ENSP00000446114:P456S	ENSP00000358719:P531S	P	-	1	0	ME1	83978490	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	7.398000	0.79919	2.770000	0.95276	0.637000	0.83480	CCT		0.358	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1			32	56	0	0	0	0.004289	0	32	56				
TMEM234	56063	broad.mit.edu	37	1	32682865	32682865	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:32682865C>G	ENST00000344461.3	-	4	338	c.323G>C	c.(322-324)gGa>gCa	p.G108A	TMEM234_ENST00000485689.1_5'UTR|TMEM234_ENST00000545122.1_Missense_Mutation_p.G108A|TMEM234_ENST00000373593.1_Missense_Mutation_p.G108A|TMEM234_ENST00000309777.6_Missense_Mutation_p.G108A			Q8WY98	TM234_HUMAN	transmembrane protein 234	108						integral component of membrane (GO:0016021)				kidney(2)|lung(3)	5						CTTACGTTTTCCACCAATATC	0.522																																						ENST00000373593.1																			0				kidney(2)|lung(3)	5						c.(322-324)gGa>gCa		transmembrane protein 234							135.0	115.0	122.0					1																	32682865		2203	4300	6503	SO:0001583	missense	56063					integral to membrane		g.chr1:32682865C>G	AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 91"""	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742	ENST00000344461.3:c.323G>C	1.37:g.32682865C>G	ENSP00000344021:p.Gly108Ala					TMEM234_ENST00000485689.1_5'UTR|TMEM234_ENST00000309777.6_Missense_Mutation_p.G108A|TMEM234_ENST00000344461.3_Missense_Mutation_p.G108A|TMEM234_ENST00000545122.1_Missense_Mutation_p.G108A	p.G108A			Q8WY98	TM234_HUMAN			4	343	-			108					B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Missense_Mutation	SNP	ENST00000344461.3	37	c.323G>C		.	.	.	.	.	.	.	.	.	.	C	28.9	4.957483	0.92726	.	.	ENSG00000160055	ENST00000545122;ENST00000309777;ENST00000373593;ENST00000344461	T;T	0.70282	-0.47;-0.47	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.81706	0.4879	L	0.58583	1.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.976;0.984	T	0.76780	-0.2833	10	0.27082	T	0.32	-0.1374	19.6429	0.95764	0.0:1.0:0.0:0.0	.	108;108	Q8WY98-2;Q8WY98-3	.;.	A	108	ENSP00000309792:G108A;ENSP00000344021:G108A	ENSP00000309792:G108A	G	-	2	0	TMEM234	32455452	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	5.313000	0.65798	2.822000	0.97130	0.563000	0.77884	GGA		0.522	TMEM234-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092260.2	NM_019118		29	48	0	0	0	0.012213	0	29	48				
UROC1	131669	broad.mit.edu	37	3	126219702	126219702	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:126219702G>A	ENST00000290868.2	-	11	1034	c.981C>T	c.(979-981)caC>caT	p.H327H	UROC1_ENST00000383579.3_Silent_p.H387H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	327					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGTCCAATTCGTGGACCAGGC	0.637																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(979-981)caC>caT		urocanate hydratase 1							59.0	55.0	57.0					3																	126219702		2203	4300	6503	SO:0001819	synonymous_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126219702G>A	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.981C>T	3.37:g.126219702G>A						UROC1_ENST00000383579.3_Silent_p.H387H	p.H327H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	11	1034	-			327					E9PE13|Q14C64|Q68CJ7	Silent	SNP	ENST00000290868.2	37	c.981C>T	CCDS3038.1																																																																																				0.637	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		23	40	0	0	0	0.003330	0	23	40				
LATS1	9113	broad.mit.edu	37	6	150001095	150001095	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:150001095C>G	ENST00000543571.1	-	5	3056	c.2509G>C	c.(2509-2511)Gat>Cat	p.D837H	LATS1_ENST00000253339.5_Missense_Mutation_p.D837H|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CCATCACGATCAATCAAAATA	0.363																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(2509-2511)Gat>Cat		large tumor suppressor kinase 1							79.0	81.0	80.0					6																	150001095		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150001095C>G	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2509G>C	6.37:g.150001095C>G	ENSP00000437550:p.Asp837His					LATS1_ENST00000253339.5_Missense_Mutation_p.D837H|LATS1_ENST00000542747.1_5'UTR	p.D837H	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	5	3056	-		Ovarian(120;0.0164)	837			Protein kinase.			Missense_Mutation	SNP	ENST00000543571.1	37	c.2509G>C	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286393	0.80803	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.11385	2.78;2.78	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000012	T	0.19366	0.0465	L	0.43554	1.36	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.00684	-1.1611	9	.	.	.	.	20.0781	0.97751	0.0:1.0:0.0:0.0	.	837	O95835	LATS1_HUMAN	H	837	ENSP00000437550:D837H;ENSP00000253339:D837H	.	D	-	1	0	LATS1	150042788	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.817000	0.96982	0.563000	0.77884	GAT		0.363	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		29	49	0	0	0	0.007291	0	29	49				
MICAL2	9645	broad.mit.edu	37	11	12248645	12248645	+	Silent	SNP	C	C	G	rs552604458		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:12248645C>G	ENST00000256194.4	+	15	2250	c.1962C>G	c.(1960-1962)ctC>ctG	p.L654L	MICAL2_ENST00000342902.5_Silent_p.L654L|MICAL2_ENST00000527546.1_Silent_p.L654L|MICAL2_ENST00000379612.3_Silent_p.L654L|MICAL2_ENST00000537344.1_Silent_p.L654L	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	654					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.L654L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ATAACTATCTCAACCTCACAT	0.443																																						ENST00000256194.4																			1	Substitution - coding silent(1)	p.L654L(1)	urinary_tract(1)	breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(1960-1962)ctC>ctG		microtubule associated monooxygenase, calponin and LIM domain containing 2							119.0	109.0	112.0					11																	12248645		2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12248645C>G	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1962C>G	11.37:g.12248645C>G						MICAL2_ENST00000379612.3_Silent_p.L654L|MICAL2_ENST00000537344.1_Silent_p.L654L|MICAL2_ENST00000342902.5_Silent_p.L654L|MICAL2_ENST00000527546.1_Silent_p.L654L	p.L654L	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	15	2250	+			654					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.1962C>G	CCDS7809.1																																																																																				0.443	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		15	7	0	0	0	0.008871	0	15	7				
TTF1	7270	broad.mit.edu	37	9	135266215	135266215	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr9:135266215C>G	ENST00000334270.2	-	7	2030	c.1991G>C	c.(1990-1992)aGa>aCa	p.R664T		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	664	Myb-like 2. {ECO:0000255|PROSITE- ProRule:PRU00133}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACCACGATTTCTTTCTGTAGA	0.358																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1990-1992)aGa>aCa		transcription termination factor, RNA polymerase I							79.0	87.0	85.0					9																	135266215		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135266215C>G	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1991G>C	9.37:g.135266215C>G	ENSP00000333920:p.Arg664Thr						p.R664T	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	7	2030	-		Myeloproliferative disorder(178;0.204)	664			Myb-like 2.		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.1991G>C	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342807	0.61073	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.40756	1.02	5.33	-5.14	0.02875	Homeodomain-like (1);MYB-like (1);	1.204650	0.05903	N	0.630393	T	0.37210	0.0995	L	0.44542	1.39	0.09310	N	1	P	0.47545	0.897	P	0.45946	0.498	T	0.45264	-0.9273	10	0.22109	T	0.4	.	12.2387	0.54530	0.7438:0.1588:0.0973:0.0	.	664	Q15361	TTF1_HUMAN	T	664	ENSP00000333920:R664T	ENSP00000245588:R664T	R	-	2	0	TTF1	134256036	0.000000	0.05858	0.001000	0.08648	0.706000	0.40770	-0.202000	0.09451	-0.688000	0.05155	0.591000	0.81541	AGA		0.358	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		107	26	0	0	0	0.014410	0	107	26				
MMP1	4312	broad.mit.edu	37	11	102666324	102666324	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:102666324G>A	ENST00000315274.6	-	5	707	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	214	Metalloprotease.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R214S(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	GCTGCAACACGATGTAAGTTG	0.368																																						ENST00000315274.6																			1	Substitution - Missense(1)	p.R214S(1)	lung(1)	breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(640-642)Cgt>Tgt		matrix metallopeptidase 1 (interstitial collagenase)							60.0	53.0	56.0					11																	102666324		2203	4299	6502	SO:0001583	missense	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102666324G>A	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.640C>T	11.37:g.102666324G>A	ENSP00000322788:p.Arg214Cys					WTAPP1_ENST00000525739.2_RNA	p.R214C	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	5	707	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	214			Metalloprotease.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.640C>T	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	g	7.580	0.668592	0.14776	.	.	ENSG00000196611	ENST00000315274	T	0.21191	2.02	5.65	3.77	0.43336	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.808466	0.11286	N	0.579780	T	0.12050	0.0293	L	0.33245	0.995	0.09310	N	1	P	0.45078	0.85	B	0.27608	0.081	T	0.17107	-1.0380	10	0.62326	D	0.03	.	6.98	0.24698	0.1347:0.0:0.7235:0.1417	.	214	P03956	MMP1_HUMAN	C	214	ENSP00000322788:R214C	ENSP00000322788:R214C	R	-	1	0	MMP1	102171534	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.559000	0.23485	0.838000	0.34948	0.655000	0.94253	CGT		0.368	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		15	168	0	0	0	0.003163	0	15	168				
ZC3H14	79882	broad.mit.edu	37	14	89039315	89039315	+	Silent	SNP	G	G	A	rs376420911		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:89039315G>A	ENST00000251038.5	+	6	1050	c.825G>A	c.(823-825)ccG>ccA	p.P275P	ZC3H14_ENST00000557607.1_Silent_p.P120P|ZC3H14_ENST00000336693.4_Silent_p.P241P|ZC3H14_ENST00000393514.5_Silent_p.P275P|ZC3H14_ENST00000359301.3_Silent_p.P241P|ZC3H14_ENST00000556945.1_Silent_p.P275P|ZC3H14_ENST00000555755.1_Silent_p.P275P|ZC3H14_ENST00000302216.8_Silent_p.P275P	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	275						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CGTATAGTCCGTTCTTTAGAA	0.388																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(823-825)ccG>ccA		zinc finger CCCH-type containing 14		G	,,,,	0,4406		0,0,2203	78.0	79.0	79.0		825,825,825,825,723	-3.9	1.0	14		79	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZC3H14	NM_001160103.1,NM_001160104.1,NM_024824.4,NM_207660.3,NM_207661.2	,,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,,	275/736,275/731,275/737,275/580,241/572	89039315	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89039315G>A	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.825G>A	14.37:g.89039315G>A						ZC3H14_ENST00000556945.1_Silent_p.P275P|ZC3H14_ENST00000555755.1_Silent_p.P275P|ZC3H14_ENST00000336693.4_Silent_p.P241P|ZC3H14_ENST00000557607.1_Silent_p.P120P|ZC3H14_ENST00000393514.5_Silent_p.P275P|ZC3H14_ENST00000359301.3_Silent_p.P241P|ZC3H14_ENST00000302216.8_Silent_p.P275P	p.P275P	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			6	1050	+			275					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Silent	SNP	ENST00000251038.5	37	c.825G>A	CCDS32133.1	.	.	.	.	.	.	.	.	.	.	G	1.571	-0.534062	0.04082	0.0	2.33E-4	ENSG00000100722	ENST00000556000	.	.	.	5.92	-3.94	0.04130	.	.	.	.	.	T	0.39682	0.1087	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.38929	-0.9638	4	.	.	.	-9.5836	2.9568	0.05880	0.0916:0.3963:0.1895:0.3226	.	.	.	.	H	191	.	.	R	+	2	0	ZC3H14	88109068	0.002000	0.14202	0.984000	0.44739	0.225000	0.24961	-1.535000	0.02210	-0.357000	0.08175	-0.841000	0.03054	CGT		0.388	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		4	80	0	0	0	0.000602	0	4	80				
WDR81	124997	broad.mit.edu	37	17	1636853	1636853	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:1636853G>C	ENST00000409644.1	+	7	4522	c.4522G>C	c.(4522-4524)Gag>Cag	p.E1508Q	WDR81_ENST00000419248.1_Missense_Mutation_p.E281Q|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Missense_Mutation_p.E457Q|WDR81_ENST00000437219.2_Missense_Mutation_p.E305Q|WDR81_ENST00000545662.1_Missense_Mutation_p.E139Q|WDR81_ENST00000446363.1_Missense_Mutation_p.E147Q	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1508					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCCAACCACGAGCTGGTTGG	0.632																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(4522-4524)Gag>Cag		WD repeat domain 81							59.0	71.0	67.0					17																	1636853		2191	4267	6458	SO:0001583	missense	124997							g.chr17:1636853G>C	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4522G>C	17.37:g.1636853G>C	ENSP00000386609:p.Glu1508Gln					RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Missense_Mutation_p.E147Q|WDR81_ENST00000437219.2_Missense_Mutation_p.E305Q|WDR81_ENST00000419248.1_Missense_Mutation_p.E281Q|WDR81_ENST00000309182.5_Missense_Mutation_p.E457Q|WDR81_ENST00000545662.1_Missense_Mutation_p.E139Q	p.E1508Q	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	7	4522	+			281					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	c.4522G>C	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453673	0.63290	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000418841;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.38	4.41	0.53225	.	0.322422	0.33057	N	0.005332	T	0.72622	0.3483	L	0.49126	1.545	0.35117	D	0.766729	B;B;B;B	0.27823	0.076;0.187;0.19;0.16	B;B;B;B	0.26864	0.012;0.018;0.074;0.018	T	0.73487	-0.3967	10	0.31617	T	0.26	.	8.6593	0.34081	0.0809:0.0:0.7585:0.1606	.	139;305;635;457	B7Z6V3;B7Z579;Q8TEL1;Q562E7	.;.;.;WDR81_HUMAN	Q	305;457;147;281;93;1508;259;139	ENSP00000391074:E305Q;ENSP00000312074:E457Q;ENSP00000401560:E147Q;ENSP00000407845:E281Q;ENSP00000395198:E93Q;ENSP00000386609:E1508Q;ENSP00000442726:E139Q	ENSP00000312074:E457Q	E	+	1	0	WDR81	1583603	1.000000	0.71417	0.987000	0.45799	0.976000	0.68499	4.019000	0.57181	1.276000	0.44395	0.655000	0.94253	GAG		0.632	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		75	122	0	0	0	0.014410	0	75	122				
LRRC37A11P	342666	broad.mit.edu	37	17	37199482	37199482	+	RNA	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:37199482G>C	ENST00000425901.2	+	0	2635					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		TGACAGAACTGAGCTTTGGAA	0.353																																						ENST00000425901.2																			0																																																			342666							g.chr17:37199482G>C			17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37199482G>C								NR_033753.2						0	2635	+									RNA	SNP	ENST00000425901.2	37																																																																																						0.353	LRRC37A11P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444105.1	NR_033753		93	285	0	0	0	0.014410	0	93	285				
MED12L	116931	broad.mit.edu	37	3	151078367	151078367	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:151078367C>T	ENST00000474524.1	+	19	2864	c.2826C>T	c.(2824-2826)ctC>ctT	p.L942L	MED12L_ENST00000273432.4_Silent_p.L802L|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	942						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTAGCCACCTCAGAAGTAAAT	0.428																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(2824-2826)ctC>ctT		mediator complex subunit 12-like							194.0	181.0	185.0					3																	151078367		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151078367C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2826C>T	3.37:g.151078367C>T						MED12L_ENST00000273432.4_Silent_p.L802L|P2RY12_ENST00000302632.3_Intron	p.L942L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		19	2864	+			942					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.2826C>T	CCDS33876.1																																																																																				0.428	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		68	173	0	0	0	0.014410	0	68	173				
KCNV1	27012	broad.mit.edu	37	8	110980590	110980590	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:110980590G>A	ENST00000524391.1	-	4	2262	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	KCNV1_ENST00000297404.1_Silent_p.F410F			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	410					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATATACACATGAAGGCCACGA	0.478																																						ENST00000524391.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1228-1230)ttC>ttT		potassium channel, subfamily V, member 1							111.0	111.0	111.0					8																	110980590		2203	4300	6503	SO:0001819	synonymous_variant	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980590G>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1230C>T	8.37:g.110980590G>A						KCNV1_ENST00000297404.1_Silent_p.F410F	p.F410F			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		4	2262	-	all_neural(195;0.219)		410					Q9UHJ4	Silent	SNP	ENST00000524391.1	37	c.1230C>T	CCDS6314.1																																																																																				0.478	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		39	123	0	0	0	0.007835	0	39	123				
PAK2	5062	broad.mit.edu	37	3	196554193	196554193	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:196554193G>C	ENST00000327134.3	+	14	1799	c.1477G>C	c.(1477-1479)Gaa>Caa	p.E493Q		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	493	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TTCAGCCAAAGAATTATTACA	0.358																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.(1477-1479)Gaa>Caa		p21 protein (Cdc42/Rac)-activated kinase 2							69.0	74.0	72.0					3																	196554193		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196554193G>C	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.1477G>C	3.37:g.196554193G>C	ENSP00000314067:p.Glu493Gln						p.E493Q	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	14	1799	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		493			Protein kinase.		Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.1477G>C	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920119	0.33908	.	.	ENSG00000180370	ENST00000327134	T	0.15256	2.44	4.81	4.81	0.61882	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.11452	0.0279	N	0.05383	-0.06	0.80722	D	1	B	0.09022	0.002	B	0.17098	0.017	T	0.13872	-1.0493	10	0.42905	T	0.14	.	18.0555	0.89363	0.0:0.0:1.0:0.0	.	493	Q13177	PAK2_HUMAN	Q	493	ENSP00000314067:E493Q	ENSP00000314067:E493Q	E	+	1	0	PAK2	198038590	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	7.457000	0.80775	2.513000	0.84729	0.591000	0.81541	GAA		0.358	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		41	82	0	0	0	0.008740	0	41	82				
DDX51	317781	broad.mit.edu	37	12	132627321	132627321	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr12:132627321C>G	ENST00000397333.3	-	3	660	c.622G>C	c.(622-624)Gac>Cac	p.D208H	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	208					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TTCTGCAGGTCAGGATGGACG	0.617																																						ENST00000397333.3																			0				endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(622-624)Gac>Cac		DEAD (Asp-Glu-Ala-Asp) box polypeptide 51							89.0	98.0	95.0					12																	132627321		2076	4215	6291	SO:0001583	missense	317781				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:132627321C>G	BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.622G>C	12.37:g.132627321C>G	ENSP00000380495:p.Asp208His						p.D208H	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)	3	660	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	208					A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	ENST00000397333.3	37	c.622G>C	CCDS41865.1	.	.	.	.	.	.	.	.	.	.	C	4.199	0.035677	0.08148	.	.	ENSG00000185163	ENST00000397333	T	0.01902	4.57	4.57	3.57	0.40892	.	0.774344	0.11918	N	0.516946	T	0.02929	0.0087	L	0.43923	1.385	0.23769	N	0.996891	B	0.20164	0.042	B	0.28011	0.085	T	0.35847	-0.9772	10	0.42905	T	0.14	-29.0909	6.4489	0.21892	0.1946:0.6993:0.0:0.1061	.	208	Q8N8A6	DDX51_HUMAN	H	208	ENSP00000380495:D208H	ENSP00000380495:D208H	D	-	1	0	DDX51	131193274	0.000000	0.05858	0.996000	0.52242	0.710000	0.40934	0.430000	0.21428	2.083000	0.62718	0.491000	0.48974	GAC		0.617	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398978.1	NM_175066		48	93	0	0	0	0.014410	0	48	93				
HSPBAP1	79663	broad.mit.edu	37	3	122474119	122474119	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:122474119C>G	ENST00000306103.2	-	5	872	c.729G>C	c.(727-729)ctG>ctC	p.L243L	HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	243	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		GTCCTGGGCTCAGTGTAACCG	0.448																																						ENST00000306103.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(727-729)ctG>ctC		HSPB (heat shock 27kDa) associated protein 1							102.0	89.0	93.0					3																	122474119		2203	4300	6503	SO:0001819	synonymous_variant	79663					cytoplasm		g.chr3:122474119C>G	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.729G>C	3.37:g.122474119C>G						HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000383659.1_3'UTR	p.L243L	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	5	872	-			243			JmjC.		Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Silent	SNP	ENST00000306103.2	37	c.729G>C	CCDS3017.1																																																																																				0.448	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		19	55	0	0	0	0.008871	0	19	55				
NUP85	79902	broad.mit.edu	37	17	73227442	73227442	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:73227442C>T	ENST00000245544.4	+	12	1173	c.1102C>T	c.(1102-1104)Ctg>Ttg	p.L368L	NUP85_ENST00000447371.2_Silent_p.L200L|NUP85_ENST00000579324.1_Silent_p.L256L|NUP85_ENST00000579298.1_Silent_p.L323L|NUP85_ENST00000541827.1_Silent_p.L322L|NUP85_ENST00000540768.1_5'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	368					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CAGCATCGCCCTGAGCAACTG	0.582																																						ENST00000447371.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(598-600)Ctg>Ttg		nucleoporin 85kDa							154.0	148.0	150.0					17																	73227442		2203	4300	6503	SO:0001819	synonymous_variant	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73227442C>T	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1102C>T	17.37:g.73227442C>T						NUP85_ENST00000541827.1_Silent_p.L322L|NUP85_ENST00000245544.4_Silent_p.L368L|NUP85_ENST00000579324.1_Silent_p.L256L|NUP85_ENST00000579298.1_Silent_p.L323L|NUP85_ENST00000540768.1_5'UTR	p.L200L			Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		11	1022	+	all_lung(278;0.14)|Lung NSC(278;0.168)		368					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Silent	SNP	ENST00000245544.4	37	c.598C>T	CCDS32730.1																																																																																				0.582	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		5	191	0	0	0	0.003080	0	5	191				
CREB3L1	90993	broad.mit.edu	37	11	46341831	46341831	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:46341831C>G	ENST00000529193.1	+	11	1726	c.1275C>G	c.(1273-1275)ctC>ctG	p.L425L	CREB3L1_ENST00000288400.3_Silent_p.L425L|CREB3L1_ENST00000534616.1_3'UTR			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	425					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CCCGAAGCCTCCTATTCTACG	0.617			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	ENST00000529193.1				Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	0				NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12						c.(1273-1275)ctC>ctG		cAMP responsive element binding protein 3-like 1							36.0	37.0	37.0					11																	46341831		1986	4160	6146	SO:0001819	synonymous_variant	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46341831C>G		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.1275C>G	11.37:g.46341831C>G						CREB3L1_ENST00000534616.1_3'UTR|CREB3L1_ENST00000288400.3_Silent_p.L425L	p.L425L			Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	11	1726	+			425					Q8N2D5|Q96CP0	Silent	SNP	ENST00000529193.1	37	c.1275C>G	CCDS53620.1																																																																																				0.617	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		13	29	0	0	0	0.001855	0	13	29				
LATS1	9113	broad.mit.edu	37	6	149983190	149983190	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:149983190G>C	ENST00000543571.1	-	8	3615	c.3068C>G	c.(3067-3069)tCt>tGt	p.S1023C	LATS1_ENST00000253339.5_Missense_Mutation_p.S1023C	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GTATGAAGCAGACTGCTGTCT	0.388																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(3067-3069)tCt>tGt		large tumor suppressor kinase 1							110.0	111.0	111.0					6																	149983190		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:149983190G>C	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.3068C>G	6.37:g.149983190G>C	ENSP00000437550:p.Ser1023Cys					LATS1_ENST00000253339.5_Missense_Mutation_p.S1023C	p.S1023C	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	8	3615	-		Ovarian(120;0.0164)	1023			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000543571.1	37	c.3068C>G	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186518	0.38609	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.08370	3.1;3.1	5.6	5.6	0.85130	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.124748	0.36854	N	0.002368	T	0.04092	0.0114	L	0.36672	1.1	0.48511	D	0.999667	B	0.06786	0.001	B	0.09377	0.004	T	0.39981	-0.9587	9	.	.	.	.	19.6081	0.95588	0.0:0.0:1.0:0.0	.	1023	O95835	LATS1_HUMAN	C	1023	ENSP00000437550:S1023C;ENSP00000253339:S1023C	.	S	-	2	0	LATS1	150024883	0.998000	0.40836	0.972000	0.41901	0.950000	0.60333	2.520000	0.45554	2.643000	0.89663	0.591000	0.81541	TCT		0.388	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		14	107	0	0	0	0.002450	0	14	107				
FLVCR1	28982	broad.mit.edu	37	1	213032530	213032530	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:213032530C>G	ENST00000366971.4	+	1	934	c.736C>G	c.(736-738)Cag>Gag	p.Q246E	FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	246					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GCTGGGCAATCAGGTAAGTAC	0.562																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12						c.(736-738)Cag>Gag		feline leukemia virus subgroup C cellular receptor 1							66.0	71.0	69.0					1																	213032530		2203	4300	6503	SO:0001583	missense	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213032530C>G	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.736C>G	1.37:g.213032530C>G	ENSP00000355938:p.Gln246Glu						p.Q246E	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	1	934	+			246					Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	37	c.736C>G	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.814143|4.814143	0.90790|0.90790	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000419102|ENST00000366971	.|T	.|0.58652	.|0.32	5.12|5.12	5.12|5.12	0.69794|0.69794	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.051859	.|0.85682	.|D	.|0.000000	T|T	0.78444|0.78444	0.4284|0.4284	M|M	0.91249|0.91249	3.19|3.19	0.80722|0.80722	D|D	1|1	.|P	.|0.52061	.|0.95	.|P	.|0.59546	.|0.859	T|T	0.80091|0.80091	-0.1527|-0.1527	5|10	.|0.30854	.|T	.|0.27	-53.8261|-53.8261	17.5244|17.5244	0.87795|0.87795	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|246	.|Q9Y5Y0	.|FLVC1_HUMAN	M|E	91|246	.|ENSP00000355938:Q246E	.|ENSP00000355938:Q246E	I|Q	+|+	3|1	3|0	FLVCR1|FLVCR1	211099153|211099153	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.426000|7.426000	0.80270|0.80270	2.360000|2.360000	0.80028|0.80028	0.591000|0.591000	0.81541|0.81541	ATC|CAG		0.562	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		40	112	0	0	0	0.010771	0	40	112				
NOD1	10392	broad.mit.edu	37	7	30492447	30492447	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:30492447C>T	ENST00000222823.4	-	6	1111	c.586G>A	c.(586-588)Gag>Aag	p.E196K	NOD1_ENST00000423334.2_Intron	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	196	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						AAGATGGTCTCACCCTGCTCA	0.627																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(586-588)Gag>Aag		nucleotide-binding oligomerization domain containing 1							105.0	95.0	99.0					7																	30492447		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30492447C>T	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.586G>A	7.37:g.30492447C>T	ENSP00000222823:p.Glu196Lys					NOD1_ENST00000423334.2_Intron	p.E196K	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			6	1111	-			196			NACHT.		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.586G>A	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288105	0.59976	.	.	ENSG00000106100	ENST00000222823	T	0.69175	-0.38	5.49	5.49	0.81192	NACHT nucleoside triphosphatase (1);	0.000000	0.85682	D	0.000000	D	0.82591	0.5070	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81756	-0.0787	10	0.37606	T	0.19	.	18.357	0.90361	0.0:1.0:0.0:0.0	.	196	Q9Y239	NOD1_HUMAN	K	196	ENSP00000222823:E196K	ENSP00000222823:E196K	E	-	1	0	NOD1	30458972	1.000000	0.71417	0.998000	0.56505	0.211000	0.24417	6.089000	0.71384	2.566000	0.86566	0.655000	0.94253	GAG		0.627	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			42	13	0	0	0	0.007835	0	42	13				
TMEM41A	90407	broad.mit.edu	37	3	185209541	185209541	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:185209541C>G	ENST00000421852.1	-	5	674	c.579G>C	c.(577-579)ttG>ttC	p.L193F	TMEM41A_ENST00000296254.3_Nonstop_Mutation_p.*93S|TMEM41A_ENST00000475480.1_Intron	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	193						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TATATGGGATCAAACCTGGAA	0.423																																						ENST00000296254.3																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(277-279)tGa>tCa		transmembrane protein 41A							44.0	43.0	44.0					3																	185209541		2203	4300	6503	SO:0001583	missense	90407					integral to membrane		g.chr3:185209541C>G	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.579G>C	3.37:g.185209541C>G	ENSP00000406885:p.Leu193Phe					TMEM41A_ENST00000421852.1_Missense_Mutation_p.L193F|TMEM41A_ENST00000475480.1_Intron	p.*93S			Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		3	303	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		0					A8K4B3|D3DNU2|Q6ZMJ0	Nonstop_Mutation	SNP	ENST00000421852.1	37	c.278G>C	CCDS3271.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.14|15.14	2.746388|2.746388	0.49257|0.49257	.|.	.|.	ENSG00000163900|ENSG00000163900	ENST00000421852|ENST00000296254	.|.	.|.	.|.	6.08|6.08	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|.	0.61937|.	0.2387|.	M|M	0.85777|0.85777	2.775|2.775	0.09310|0.09310	N|N	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.60439|.	-0.7263|.	9|.	0.87932|.	D|.	0|.	-21.9109|-21.9109	7.6068|7.6068	0.28107|0.28107	0.2758:0.6452:0.0:0.0791|0.2758:0.6452:0.0:0.0791	.|.	193|.	Q96HV5|.	TM41A_HUMAN|.	F|S	193|93	.|.	ENSP00000406885:L193F|.	L|X	-|-	3|2	2|2	TMEM41A|TMEM41A	186692235|186692235	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	0.382000|0.382000	0.20635|0.20635	2.890000|2.890000	0.99128|0.99128	0.655000|0.655000	0.94253|0.94253	TTG|TGA		0.423	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		21	52	0	0	0	0.014323	0	21	52				
TSHR	7253	broad.mit.edu	37	14	81610641	81610641	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:81610641C>T	ENST00000541158.2	+	11	2561	c.2239C>T	c.(2239-2241)Cta>Tta	p.L747L	TSHR_ENST00000298171.2_Silent_p.L747L|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	747					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.L747I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	AAACTCCCATCTAACCCCAAA	0.408			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															ENST00000541158.2			yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism	E		thyroid  adenoma	toxic thyroid adenoma		1	Substitution - Missense(1)	p.L747I(1)	large_intestine(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337						c.(2239-2241)Cta>Tta		thyroid stimulating hormone receptor	Thyrotropin Alfa(DB00024)						108.0	101.0	103.0					14																	81610641		2203	4300	6503	SO:0001819	synonymous_variant	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81610641C>T	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.2239C>T	14.37:g.81610641C>T						TSHR_ENST00000298171.2_Silent_p.L747L|RP11-114N19.3_ENST00000557775.1_RNA	p.L747L			P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	11	2561	+			747					A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	c.2239C>T	CCDS9872.1																																																																																				0.408	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		38	67	0	0	0	0.009718	0	38	67				
KLK2	3817	broad.mit.edu	37	19	51379884	51379884	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:51379884C>G	ENST00000325321.3	+	3	588	c.363C>G	c.(361-363)ctC>ctG	p.L121L	AC037199.1_ENST00000594218.1_5'Flank|KLK2_ENST00000391810.2_Silent_p.L19L|KLK2_ENST00000358049.4_Silent_p.L121L			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	121	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GCCATGACCTCATGCTGCTCC	0.582			T	ETV4	prostate																																	ENST00000325321.3				Dom	yes		19	19q13.41	3817	T	kallikrein-related peptidase 2			E	ETV4		prostate	KLK2/ETV1(3)|KLK2/ETV4(2)	0				large_intestine(3)|lung(6)|ovary(1)|skin(1)	11						c.(361-363)ctC>ctG		kallikrein-related peptidase 2							64.0	58.0	60.0					19																	51379884		2203	4300	6503	SO:0001819	synonymous_variant	3817				proteolysis		serine-type endopeptidase activity	g.chr19:51379884C>G	M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.363C>G	19.37:g.51379884C>G						KLK2_ENST00000358049.4_Silent_p.L121L|KLK2_ENST00000391810.2_Silent_p.L19L	p.L121L			P20151	KLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)	3	588	+		all_neural(266;0.026)	121			Peptidase S1.		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Silent	SNP	ENST00000325321.3	37	c.363C>G	CCDS12808.1																																																																																				0.582	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3	NM_005551.3		24	42	0	0	0	0.003330	0	24	42				
PPP6R2	9701	broad.mit.edu	37	22	50854547	50854547	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr22:50854547G>A	ENST00000216061.5	+	7	949	c.579G>A	c.(577-579)caG>caA	p.Q193Q	PPP6R2_ENST00000395744.3_Silent_p.Q193Q|PPP6R2_ENST00000395741.3_Silent_p.Q193Q|PPP6R2_ENST00000359139.3_Silent_p.Q193Q			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	193						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						AGGTCATCCAGAGGCTTGTGG	0.517																																						ENST00000359139.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						c.(577-579)caG>caA		protein phosphatase 6, regulatory subunit 2							128.0	111.0	117.0					22																	50854547		2203	4300	6503	SO:0001819	synonymous_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50854547G>A	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.579G>A	22.37:g.50854547G>A						PPP6R2_ENST00000216061.5_Silent_p.Q193Q|PPP6R2_ENST00000395741.3_Silent_p.Q193Q|PPP6R2_ENST00000395744.3_Silent_p.Q193Q	p.Q193Q	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN			6	973	+			193					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37	c.579G>A																																																																																					0.517	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678		10	78	0	0	0	0.008291	0	10	78				
FBLN2	2199	broad.mit.edu	37	3	13670672	13670672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:13670672G>T	ENST00000295760.7	+	12	2650	c.2581G>T	c.(2581-2583)Gag>Tag	p.E861*	FBLN2_ENST00000404922.3_Nonsense_Mutation_p.E908*|FBLN2_ENST00000492059.1_Nonsense_Mutation_p.E908*|FBLN2_ENST00000535798.1_Nonsense_Mutation_p.E887*	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	861	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGACGTGAATGAGTGTGAGAC	0.667																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(2722-2724)Gag>Tag		fibulin 2							42.0	48.0	46.0					3																	13670672		2101	4216	6317	SO:0001587	stop_gained	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13670672G>T	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2581G>T	3.37:g.13670672G>T	ENSP00000295760:p.Glu861*					FBLN2_ENST00000535798.1_Nonsense_Mutation_p.E887*|FBLN2_ENST00000492059.1_Nonsense_Mutation_p.E908*|FBLN2_ENST00000295760.7_Nonsense_Mutation_p.E861*	p.E908*	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		13	2841	+			904			EGF-like 7; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Nonsense_Mutation	SNP	ENST00000295760.7	37	c.2722G>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	41	8.720470	0.98929	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5356	0.91009	0.0:0.0:1.0:0.0	.	.	.	.	X	887;908;861;908	.	ENSP00000295760:E861X	E	+	1	0	FBLN2	13645673	1.000000	0.71417	0.998000	0.56505	0.824000	0.46624	9.768000	0.98965	2.366000	0.80165	0.655000	0.94253	GAG		0.667	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		16	9	1	0	1.33834e-09	0.007413	1.39441e-09	16	9				
ZBTB38	253461	broad.mit.edu	37	3	141161524	141161524	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:141161524C>G	ENST00000514251.1	+	4	573	c.294C>G	c.(292-294)gtC>gtG	p.V98V	ZBTB38_ENST00000321464.5_Silent_p.V99V|ZBTB38_ENST00000441582.2_Silent_p.V98V					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CAGTCGTTGTCAAGAGACAGG	0.438																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(292-294)gtC>gtG		zinc finger and BTB domain containing 38							62.0	58.0	59.0					3																	141161524		1896	4126	6022	SO:0001819	synonymous_variant	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141161524C>G	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.294C>G	3.37:g.141161524C>G						ZBTB38_ENST00000321464.5_Silent_p.V99V|ZBTB38_ENST00000441582.2_Silent_p.V98V	p.V98V			Q8NAP3	ZBT38_HUMAN			4	573	+			98			BTB.			Silent	SNP	ENST00000514251.1	37	c.294C>G	CCDS43157.1																																																																																				0.438	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			8	64	0	0	0	0.004482	0	8	64				
UPF2	26019	broad.mit.edu	37	10	12070767	12070767	+	Silent	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr10:12070767G>C	ENST00000356352.2	-	2	1595	c.1122C>G	c.(1120-1122)ctC>ctG	p.L374L	UPF2_ENST00000397053.2_Silent_p.L374L|UPF2_ENST00000357604.5_Silent_p.L374L			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	374	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CAGTATTCTGGAGCTCCCTGT	0.373																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(1120-1122)ctC>ctG		UPF2 regulator of nonsense transcripts homolog (yeast)							72.0	74.0	74.0					10																	12070767		2201	4300	6501	SO:0001819	synonymous_variant	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12070767G>C	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1122C>G	10.37:g.12070767G>C						UPF2_ENST00000357604.5_Silent_p.L374L|UPF2_ENST00000397053.2_Silent_p.L374L	p.L374L			Q9HAU5	RENT2_HUMAN			2	1595	-		Renal(717;0.228)	374			MIF4G 1.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	ENST00000356352.2	37	c.1122C>G	CCDS7086.1																																																																																				0.373	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			37	43	0	0	0	0.007835	0	37	43				
PLEC	5339	broad.mit.edu	37	8	144990596	144990596	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:144990596C>G	ENST00000322810.4	-	32	13973	c.13804G>C	c.(13804-13806)Gag>Cag	p.E4602Q	PLEC_ENST00000357649.2_Missense_Mutation_p.E4469Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E4488Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E4465Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E4443Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E4492Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E4451Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E4433Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E4465Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4602	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGGCAGCCTCCAGCAGCCGC	0.677																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(13804-13806)Gag>Cag		plectin							51.0	56.0	54.0					8																	144990596		2004	4166	6170	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144990596C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13804G>C	8.37:g.144990596C>G	ENSP00000323856:p.Glu4602Gln					PLEC_ENST00000357649.2_Missense_Mutation_p.E4469Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E4443Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E4492Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E4433Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E4465Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E4465Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E4451Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E4488Q	p.E4602Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13973	-			4602			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13804G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368656	0.42003	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.05	5.05	0.67936	.	0.000000	0.64402	U	0.000006	T	0.77143	0.4087	L	0.45352	1.415	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.85130	0.997;0.997;0.997;0.993;0.997;0.997;0.997;0.997	T	0.77595	-0.2529	10	0.52906	T	0.07	.	18.2089	0.89864	0.0:1.0:0.0:0.0	.	4492;4451;4443;4602;4433;4465;4469;4465	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	4465;4469;4465;4433;4602;4443;4451;4492;4488	ENSP00000344848:E4465Q;ENSP00000350277:E4469Q;ENSP00000346602:E4465Q;ENSP00000381756:E4433Q;ENSP00000323856:E4602Q;ENSP00000347044:E4443Q;ENSP00000348702:E4451Q;ENSP00000388180:E4492Q;ENSP00000434583:E4488Q	ENSP00000323856:E4602Q	E	-	1	0	PLEC	145062584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.863000	0.69568	2.606000	0.88127	0.643000	0.83706	GAG		0.677	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		57	151	0	0	0	0.014410	0	57	151				
LRRC36	55282	broad.mit.edu	37	16	67405001	67405001	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:67405001G>A	ENST00000329956.6	+	9	1369	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	LRRC36_ENST00000290940.7_Silent_p.L182L|LRRC36_ENST00000563189.1_Silent_p.L329L|LRRC36_ENST00000435835.3_Silent_p.L329L|LRRC36_ENST00000541146.1_De_novo_Start_OutOfFrame	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	450										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TGCGGACACTGCTGTTGTCTC	0.468																																						ENST00000541146.1																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24								leucine rich repeat containing 36							101.0	93.0	96.0					16																	67405001		2198	4300	6498	SO:0001819	synonymous_variant	55282							g.chr16:67405001G>A	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1350G>A	16.37:g.67405001G>A						LRRC36_ENST00000563189.1_Silent_p.L329L|LRRC36_ENST00000329956.6_Silent_p.L450L|LRRC36_ENST00000435835.3_Silent_p.L329L|LRRC36_ENST00000290940.7_Silent_p.L182L				Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	0	593	+		Ovarian(137;0.192)						A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Translation_Start_Site	SNP	ENST00000329956.6	37		CCDS32467.1																																																																																				0.468	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		44	70	0	0	0	0.010771	0	44	70				
PDE4A	5141	broad.mit.edu	37	19	10574474	10574474	+	Silent	SNP	C	C	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:10574474C>A	ENST00000352831.6	+	14	1859	c.1749C>A	c.(1747-1749)ctC>ctA	p.L583L	PDE4A_ENST00000380702.2_Silent_p.L561L|PDE4A_ENST00000344979.3_Silent_p.L344L|PDE4A_ENST00000592685.1_Silent_p.L561L|PDE4A_ENST00000293683.5_Silent_p.L557L|PDE4A_ENST00000440014.2_Silent_p.L522L	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	583	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TGCAGGTCCTCCGGAACATGG	0.587																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1681-1683)ctC>ctA		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						85.0	76.0	79.0					19																	10574474		2203	4300	6503	SO:0001819	synonymous_variant	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10574474C>A		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1749C>A	19.37:g.10574474C>A						PDE4A_ENST00000344979.3_Silent_p.L344L|PDE4A_ENST00000592685.1_Silent_p.L561L|PDE4A_ENST00000293683.5_Silent_p.L557L|PDE4A_ENST00000352831.6_Silent_p.L583L|PDE4A_ENST00000440014.2_Silent_p.L522L	p.L561L			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		15	1683	+			583			Catalytic.		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Silent	SNP	ENST00000352831.6	37	c.1683C>A	CCDS45961.1																																																																																				0.587	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			33	62	1	0	1.414e-09	0.003755	1.46914e-09	33	62				
SAMD8	142891	broad.mit.edu	37	10	76928341	76928341	+	Silent	SNP	A	A	G	rs572087122		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr10:76928341A>G	ENST00000542569.1	+	4	820	c.717A>G	c.(715-717)gtA>gtG	p.V239V	SAMD8_ENST00000372687.4_Silent_p.V239V|SAMD8_ENST00000372690.3_Silent_p.V302V	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8	239					ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGGGAACTGTATTCTTGCTTC	0.458													A|||	1	0.000199681	0.0	0.0	5008	,	,		17597	0.0		0.0	False		,,,				2504	0.001					ENST00000542569.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12						c.(715-717)gtA>gtG		sterile alpha motif domain containing 8							358.0	327.0	338.0					10																	76928341		2203	4300	6503	SO:0001819	synonymous_variant	142891				sphingomyelin biosynthetic process	integral to membrane		g.chr10:76928341A>G	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515	ENST00000542569.1:c.717A>G	10.37:g.76928341A>G						SAMD8_ENST00000372690.3_Silent_p.V302V|SAMD8_ENST00000372687.3_Silent_p.V239V	p.V239V	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN			4	820	+	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		239					Q5JSC5|Q5JSC8|Q66K52	Silent	SNP	ENST00000542569.1	37	c.717A>G	CCDS53543.1																																																																																				0.458	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		82	136	0	0	0	0.014410	0	82	136				
TTC27	55622	broad.mit.edu	37	2	32983539	32983539	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:32983539G>C	ENST00000317907.4	+	13	1864	c.1633G>C	c.(1633-1635)Gag>Cag	p.E545Q		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	545										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GGAGTTTCAAGAGTGTGTAGA	0.522																																						ENST00000317907.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1633-1635)Gag>Cag		tetratricopeptide repeat domain 27							92.0	86.0	88.0					2																	32983539		2203	4300	6503	SO:0001583	missense	55622						protein binding	g.chr2:32983539G>C	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.1633G>C	2.37:g.32983539G>C	ENSP00000313953:p.Glu545Gln						p.E545Q	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN			13	1864	+			545					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.1633G>C	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476832	0.26511	.	.	ENSG00000018699	ENST00000317907	T	0.68181	-0.31	5.75	4.86	0.63082	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.399864	0.30260	N	0.010036	T	0.56046	0.1959	L	0.33668	1.02	0.30647	N	0.755801	B	0.14012	0.009	B	0.09377	0.004	T	0.54193	-0.8330	10	0.30854	T	0.27	-5.9988	15.0758	0.72077	0.0:0.2687:0.7313:0.0	.	545	Q6P3X3	TTC27_HUMAN	Q	545	ENSP00000313953:E545Q	ENSP00000313953:E545Q	E	+	1	0	TTC27	32837043	1.000000	0.71417	0.151000	0.22473	0.866000	0.49608	2.630000	0.46494	1.396000	0.46663	0.655000	0.94253	GAG		0.522	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		34	60	0	0	0	0.013726	0	34	60				
MED12L	116931	broad.mit.edu	37	3	151072985	151072985	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:151072985C>G	ENST00000474524.1	+	16	2408	c.2370C>G	c.(2368-2370)ctC>ctG	p.L790L	MED12L_ENST00000273432.4_Silent_p.L650L|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	790						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCACTAAACTCCAGCTCCTTT	0.358																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(2368-2370)ctC>ctG		mediator complex subunit 12-like							102.0	102.0	102.0					3																	151072985		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151072985C>G	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2370C>G	3.37:g.151072985C>G						MED12L_ENST00000273432.4_Silent_p.L650L|P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR	p.L790L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		16	2408	+			790					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.2370C>G	CCDS33876.1																																																																																				0.358	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		32	63	0	0	0	0.008361	0	32	63				
ZNF106	64397	broad.mit.edu	37	15	42743875	42743875	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:42743875G>C	ENST00000263805.4	-	2	852	c.526C>G	c.(526-528)Cac>Gac	p.H176D	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	176					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTATGGTTGTGAAACCAAGTC	0.468																																						ENST00000263805.4																			0											c.(526-528)Cac>Gac		zinc finger protein 106							71.0	71.0	71.0					15																	42743875		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42743875G>C	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.526C>G	15.37:g.42743875G>C	ENSP00000263805:p.His176Asp					ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.H176D	NM_022473.1	NP_071918.1					2	852	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.526C>G	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319554	0.41096	.	.	ENSG00000103994	ENST00000263805	T	0.57595	0.39	5.85	5.85	0.93711	.	0.175564	0.39146	N	0.001460	T	0.59004	0.2162	L	0.50333	1.59	0.80722	D	1	D	0.61080	0.989	P	0.52031	0.688	T	0.61367	-0.7077	10	0.72032	D	0.01	-7.7714	14.9545	0.71101	0.0:0.0:0.8571:0.1429	.	176	Q9H2Y7	ZF106_HUMAN	D	176	ENSP00000263805:H176D	ENSP00000263805:H176D	H	-	1	0	ZFP106	40531167	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.811000	0.55620	2.768000	0.95171	0.645000	0.84053	CAC		0.468	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		34	77	0	0	0	0.003271	0	34	77				
COL9A2	1298	broad.mit.edu	37	1	40775622	40775622	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:40775622C>G	ENST00000372748.3	-	16	930	c.834G>C	c.(832-834)gaG>gaC	p.E278D		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	278	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CGTCACCCTTCTCCCCAGCTC	0.622																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(832-834)gaG>gaC		collagen, type IX, alpha 2							114.0	108.0	110.0					1																	40775622		2203	4300	6503	SO:0001583	missense	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40775622C>G	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.834G>C	1.37:g.40775622C>G	ENSP00000361834:p.Glu278Asp						p.E278D	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		16	930	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	278			Triple-helical region 3 (COL3).		B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.834G>C	CCDS450.1	.	.	.	.	.	.	.	.	.	.	.	13.52	2.261794	0.39995	.	.	ENSG00000049089	ENST00000372748	D	0.93547	-3.24	5.08	4.16	0.48862	.	0.216395	0.47455	D	0.000224	D	0.86694	0.5994	L	0.41961	1.31	0.32021	N	0.600829	B	0.32071	0.355	B	0.24974	0.057	T	0.81970	-0.0689	10	0.13470	T	0.59	.	7.8132	0.29243	0.0:0.8118:0.0:0.1882	.	278	Q14055	CO9A2_HUMAN	D	278	ENSP00000361834:E278D	ENSP00000361834:E278D	E	-	3	2	COL9A2	40548209	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.645000	0.24782	1.148000	0.42385	0.650000	0.86243	GAG		0.622	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852		50	81	0	0	0	0.014410	0	50	81				
BCAN	63827	broad.mit.edu	37	1	156626846	156626846	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:156626846C>G	ENST00000329117.5	+	10	2503	c.2167C>G	c.(2167-2169)Ctg>Gtg	p.L723V	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	723	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGGCGCGCATCTGGCCAGCAT	0.637																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(2167-2169)Ctg>Gtg		brevican							60.0	63.0	62.0					1																	156626846		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156626846C>G	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2167C>G	1.37:g.156626846C>G	ENSP00000331210:p.Leu723Val					BCAN_ENST00000496038.1_3'UTR|RP11-284F21.7_ENST00000448869.1_RNA	p.L723V	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			10	2503	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		723			C-type lectin.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.2167C>G	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120808	0.77436	.	.	ENSG00000132692	ENST00000329117	T	0.60299	0.2	5.05	4.12	0.48240	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.46758	D	0.000266	T	0.69878	0.3160	M	0.90705	3.14	0.80722	D	1	D	0.56035	0.974	P	0.56278	0.795	T	0.76460	-0.2951	10	0.87932	D	0	-10.9553	12.8133	0.57651	0.0:0.9181:0.0:0.0819	.	723	Q96GW7	PGCB_HUMAN	V	723	ENSP00000331210:L723V	ENSP00000331210:L723V	L	+	1	2	BCAN	154893470	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.437000	0.44828	2.641000	0.89580	0.561000	0.74099	CTG		0.637	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		29	86	0	0	0	0.009535	0	29	86				
OCRL	4952	broad.mit.edu	37	X	128692624	128692624	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chrX:128692624G>C	ENST00000371113.4	+	7	619	c.454G>C	c.(454-456)Gaa>Caa	p.E152Q	OCRL_ENST00000357121.5_Missense_Mutation_p.E152Q|OCRL_ENST00000486673.1_3'UTR	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	152					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCTTGGATTTGAAGACAATTT	0.408																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(454-456)Gaa>Caa		oculocerebrorenal syndrome of Lowe							78.0	74.0	76.0					X																	128692624		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128692624G>C	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.454G>C	X.37:g.128692624G>C	ENSP00000360154:p.Glu152Gln					OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.E152Q	p.E152Q	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			7	619	+			152					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.454G>C	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682956	0.68157	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.95518	-3.73;-3.73	5.68	5.68	0.88126	.	0.380726	0.28067	N	0.016722	D	0.96166	0.8750	L	0.34521	1.04	0.58432	D	0.99999	D;D	0.89917	1.0;0.984	D;P	0.85130	0.997;0.706	D	0.96088	0.9059	10	0.42905	T	0.14	.	17.6559	0.88177	0.0:0.0:1.0:0.0	.	152;152	Q01968-2;Q01968	.;OCRL_HUMAN	Q	152	ENSP00000360154:E152Q;ENSP00000349635:E152Q	ENSP00000349635:E152Q	E	+	1	0	OCRL	128520305	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	6.970000	0.76099	2.387000	0.81309	0.594000	0.82650	GAA		0.408	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		3	52	0	0	0	0.009096	0	3	52				
KIAA1522	57648	broad.mit.edu	37	1	33236757	33236757	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:33236757C>G	ENST00000373480.1	+	6	1903	c.1800C>G	c.(1798-1800)gtC>gtG	p.V600V	KIAA1522_ENST00000401073.2_Silent_p.V659V|KIAA1522_ENST00000373481.3_Silent_p.V611V|KIAA1522_ENST00000294521.3_Intron	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	600	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ACAGGTTTGTCATACCTCCTC	0.632																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1975-1977)gtC>gtG		KIAA1522							86.0	92.0	90.0					1																	33236757		1941	4122	6063	SO:0001819	synonymous_variant	57648							g.chr1:33236757C>G	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.1800C>G	1.37:g.33236757C>G						KIAA1522_ENST00000373481.3_Silent_p.V611V|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Silent_p.V600V	p.V659V	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	2047	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	600			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	37	c.1977C>G	CCDS55588.1																																																																																				0.632	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			80	103	0	0	0	0.014410	0	80	103				
MARK4	57787	broad.mit.edu	37	19	45783693	45783693	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:45783693G>A	ENST00000262891.4	+	11	1399	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	MARK4_ENST00000300843.4_Silent_p.K356K	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	356	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCAGCCAGAAGTACAACGAAG	0.607																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1066-1068)aaG>aaA		MAP/microtubule affinity-regulating kinase 4							135.0	131.0	132.0					19																	45783693		2203	4300	6503	SO:0001819	synonymous_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45783693G>A	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1068G>A	19.37:g.45783693G>A						MARK4_ENST00000262891.4_Silent_p.K356K	p.K356K	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	11	1365	+		all_neural(266;0.224)|Ovarian(192;0.231)	356			UBA.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	c.1068G>A	CCDS56097.1																																																																																				0.607	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		67	125	0	0	0	0.014410	0	67	125				
PARD6G	84552	broad.mit.edu	37	18	77960666	77960666	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr18:77960666G>A	ENST00000353265.3	-	2	419	c.222C>T	c.(220-222)atC>atT	p.I74I	PARD6G_ENST00000470488.2_Silent_p.I74I|AC139100.3_ENST00000588950.1_RNA	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	74	OPR.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CATCATTGTTGATGGGCAGCA	0.493																																						ENST00000353265.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(220-222)atC>atT		par-6 family cell polarity regulator gamma							110.0	101.0	104.0					18																	77960666		2203	4300	6503	SO:0001819	synonymous_variant	84552				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding	g.chr18:77960666G>A		CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"""par-6 (partitioning defective 6, C.elegans) homolog gamma"", ""par-6 partitioning defective 6 homolog gamma (C. elegans)"""			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.222C>T	18.37:g.77960666G>A						AC139100.3_ENST00000588950.1_RNA|PARD6G_ENST00000470488.2_Silent_p.I74I	p.I74I	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)	2	419	-		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)	74			OPR.		A8QM57	Silent	SNP	ENST00000353265.3	37	c.222C>T	CCDS12022.1																																																																																				0.493	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256435.2	NM_032510		6	108	0	0	0	0.001168	0	6	108				
PLVAP	83483	broad.mit.edu	37	19	17487789	17487789	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:17487789C>G	ENST00000252590.4	-	1	370	c.309G>C	c.(307-309)ctG>ctC	p.L103L		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	103					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCGAGCATTCAGCCACATCT	0.622																																						ENST00000252590.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(307-309)ctG>ctC		plasmalemma vesicle associated protein							113.0	97.0	103.0					19																	17487789		2203	4300	6503	SO:0001819	synonymous_variant	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17487789C>G	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.309G>C	19.37:g.17487789C>G							p.L103L	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN			1	370	-			103					Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	ENST00000252590.4	37	c.309G>C	CCDS32952.1																																																																																				0.622	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		10	59	0	0	0	0.008291	0	10	59				
ZNF347	84671	broad.mit.edu	37	19	53643671	53643671	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:53643671T>C	ENST00000334197.7	-	5	2478	c.2410A>G	c.(2410-2412)Agc>Ggc	p.S804G	ZNF347_ENST00000452676.2_Missense_Mutation_p.S805G|ZNF347_ENST00000601469.2_Missense_Mutation_p.S805G|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	804					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GTAGTTAGGCTTGAACAGATA	0.418																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(2413-2415)Agc>Ggc		zinc finger protein 347							184.0	181.0	182.0					19																	53643671		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53643671T>C	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2410A>G	19.37:g.53643671T>C	ENSP00000334146:p.Ser804Gly					ZNF347_ENST00000334197.7_Missense_Mutation_p.S804G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.S805G	p.S805G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2839	-			804					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2413A>G	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	T	2.236	-0.374984	0.05034	.	.	ENSG00000197937	ENST00000334197;ENST00000452676;ENST00000436933	T;T	0.16073	2.37;2.37	2.26	-4.53	0.03462	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07503	0.0189	N	0.21097	0.63	0.09310	N	1	B;B	0.29988	0.264;0.001	B;B	0.28011	0.085;0.001	T	0.32295	-0.9912	9	0.19590	T	0.45	.	2.05	0.03568	0.1442:0.353:0.3239:0.1789	.	805;804	G5E9N4;Q96SE7	.;ZN347_HUMAN	G	804;805;61	ENSP00000334146:S804G;ENSP00000405218:S805G	ENSP00000334146:S804G	S	-	1	0	ZNF347	58335483	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.203000	0.00275	-1.845000	0.01176	-0.406000	0.06334	AGC		0.418	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		66	101	0	0	0	0.014410	0	66	101				
KLHL12	59349	broad.mit.edu	37	1	202864773	202864773	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:202864773C>T	ENST00000367261.3	-	8	1230	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	KLHL12_ENST00000435533.3_Missense_Mutation_p.D376N|KLHL12_ENST00000367259.1_Missense_Mutation_p.D71N	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	338					COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAACGGCCATCATAGCCACCA	0.507																																						ENST00000367261.3																			0				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14						c.(1012-1014)Gat>Aat		kelch-like family member 12							122.0	95.0	104.0					1																	202864773		2203	4300	6503	SO:0001583	missense	59349				Wnt receptor signaling pathway		protein binding	g.chr1:202864773C>T	AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.1012G>A	1.37:g.202864773C>T	ENSP00000356230:p.Asp338Asn					KLHL12_ENST00000367259.1_Missense_Mutation_p.D71N|KLHL12_ENST00000435533.3_Missense_Mutation_p.D376N	p.D338N	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		8	1230	-			338					A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	ENST00000367261.3	37	c.1012G>A	CCDS1429.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193098	0.58017	.	.	ENSG00000117153	ENST00000367261;ENST00000367259;ENST00000435533	T;T;T	0.78364	-1.17;-1.17;-1.17	5.16	5.16	0.70880	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.75302	0.3831	L	0.39467	1.215	0.80722	D	1	B;B;B	0.30326	0.222;0.276;0.239	B;B;B	0.36567	0.228;0.151;0.194	T	0.74031	-0.3795	10	0.46703	T	0.11	.	18.621	0.91321	0.0:1.0:0.0:0.0	.	376;338;71	B7Z7B8;Q53G59;Q9H7R2	.;KLH12_HUMAN;.	N	338;71;376	ENSP00000356230:D338N;ENSP00000356228:D71N;ENSP00000416886:D376N	ENSP00000356228:D71N	D	-	1	0	KLHL12	201131396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.794000	0.85869	2.557000	0.86248	0.655000	0.94253	GAT		0.507	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099151.1	NM_021633		24	69	0	0	0	0.006320	0	24	69				
MUC17	140453	broad.mit.edu	37	7	100679095	100679095	+	Silent	SNP	G	G	C	rs527976330	byFrequency	TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:100679095G>C	ENST00000306151.4	+	3	4462	c.4398G>C	c.(4396-4398)ccG>ccC	p.P1466P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1466	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAACACGCCGGTGGCCAATT	0.478																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4396-4398)ccG>ccC		mucin 17, cell surface associated							181.0	195.0	190.0					7																	100679095		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679095G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4398G>C	7.37:g.100679095G>C							p.P1466P	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4462	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1466			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.4398G>C	CCDS34711.1																																																																																				0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		161	432	0	0	0	0.014410	0	161	432				
STAM	8027	broad.mit.edu	37	10	17737124	17737124	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr10:17737124C>T	ENST00000377524.3	+	7	827	c.612C>T	c.(610-612)ctC>ctT	p.L204L	RP11-390B4.3_ENST00000445235.1_RNA|STAM_ENST00000540523.1_Silent_p.L93L	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	204					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CATCCAGTCTCTTAACTAACC	0.388																																						ENST00000377524.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(610-612)ctC>ctT		signal transducing adaptor molecule (SH3 domain and ITAM motif) 1							130.0	116.0	121.0					10																	17737124		2203	4300	6503	SO:0001819	synonymous_variant	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17737124C>T	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.612C>T	10.37:g.17737124C>T						STAM_ENST00000540523.1_Silent_p.L93L	p.L204L	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN			7	827	+			204					B0YJ99|D3DRU5|Q8N6D9	Silent	SNP	ENST00000377524.3	37	c.612C>T	CCDS7122.1																																																																																				0.388	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		30	51	0	0	0	0.003755	0	30	51				
UBQLN3	50613	broad.mit.edu	37	11	5529368	5529368	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:5529368G>T	ENST00000311659.4	-	2	1568	c.1421C>A	c.(1420-1422)cCt>cAt	p.P474H	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_5'Flank|HBE1_ENST00000380237.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	474										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCCAGGGAGGCTCAGGGAT	0.552																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(1420-1422)cCt>cAt		ubiquilin 3							54.0	62.0	59.0					11																	5529368		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529368G>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1421C>A	11.37:g.5529368G>T	ENSP00000347997:p.Pro474His					HBG2_ENST00000380259.2_Intron	p.P474H	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1568	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	474					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.1421C>A	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	6.305	0.424365	0.11928	.	.	ENSG00000175520	ENST00000311659	T	0.35973	1.28	4.98	1.97	0.26223	.	0.603430	0.13726	N	0.367060	T	0.13543	0.0328	N	0.05230	-0.09	0.22811	N	0.998701	B	0.09022	0.002	B	0.04013	0.001	T	0.25984	-1.0116	10	0.15499	T	0.54	-3.426	2.2301	0.03994	0.1108:0.144:0.4802:0.265	.	474	Q9H347	UBQL3_HUMAN	H	474	ENSP00000347997:P474H	ENSP00000347997:P474H	P	-	2	0	UBQLN3	5485944	0.907000	0.30839	0.909000	0.35828	0.947000	0.59692	1.345000	0.33953	0.217000	0.20800	0.655000	0.94253	CCT		0.552	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		29	18	1	0	3.65163e-15	0.006320	3.89159e-15	29	18				
GCNT2	2651	broad.mit.edu	37	6	10556812	10556812	+	Intron	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:10556812C>T	ENST00000379597.3	+	1	1481				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000316170.3_Silent_p.I52I|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CATCTTTTATCAATGGAAAAA	0.418																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(154-156)atC>atT		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							105.0	104.0	104.0					6																	10556812		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10556812C>T	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+26743C>T	6.37:g.10556812C>T						GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron	p.I52I	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	573	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	53						Silent	SNP	ENST00000379597.3	37	c.156C>T	CCDS34338.1																																																																																				0.418	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		45	30	0	0	0	0.014410	0	45	30				
FAM63A	55793	broad.mit.edu	37	1	150972984	150972984	+	Silent	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:150972984G>C	ENST00000361936.5	-	6	1638	c.684C>G	c.(682-684)gtC>gtG	p.V228V	FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000361738.6_Silent_p.V276V|FAM63A_ENST00000493834.2_Silent_p.V133V|FAM63A_ENST00000312210.5_Silent_p.V86V	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	228						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCAGGTCAAAGACACTGCACT	0.527																																						ENST00000361936.5																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(682-684)gtC>gtG		family with sequence similarity 63, member A							104.0	97.0	99.0					1																	150972984		2203	4300	6503	SO:0001819	synonymous_variant	55793						protein binding	g.chr1:150972984G>C	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.684C>G	1.37:g.150972984G>C						FAM63A_ENST00000361738.6_Silent_p.V276V|FAM63A_ENST00000493834.2_Silent_p.V133V|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000312210.5_Silent_p.V86V	p.V228V	NM_018379.4	NP_060849.2	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		6	1638	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		228					B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Silent	SNP	ENST00000361936.5	37	c.684C>G	CCDS976.1																																																																																				0.527	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379		45	112	0	0	0	0.013114	0	45	112				
EIF2AK4	440275	broad.mit.edu	37	15	40268942	40268942	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:40268942G>A	ENST00000263791.5	+	12	2189	c.2146G>A	c.(2146-2148)Gag>Aag	p.E716K	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E716K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	716	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CACTTCGGGCGAGCGCTCGGC	0.716																																						ENST00000263791.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(2146-2148)Gag>Aag		eukaryotic translation initiation factor 2 alpha kinase 4							27.0	30.0	29.0					15																	40268942		1774	3876	5650	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40268942G>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2146G>A	15.37:g.40268942G>A	ENSP00000263791:p.Glu716Lys					EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E716K	p.E716K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	12	2189	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	716			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.2146G>A	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	37	6.055045	0.97241	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.70164	-0.42;-0.46	4.92	4.92	0.64577	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.133655	0.53938	D	0.000044	T	0.72550	0.3474	N	0.25789	0.76	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.71020	-0.4713	10	0.33940	T	0.23	-26.0549	19.0033	0.92842	0.0:0.0:1.0:0.0	.	716	Q9P2K8	E2AK4_HUMAN	K	716	ENSP00000263791:E716K;ENSP00000372174:E716K	ENSP00000263791:E716K	E	+	1	0	EIF2AK4	38056234	1.000000	0.71417	0.959000	0.39883	0.958000	0.62258	9.447000	0.97595	2.651000	0.90000	0.585000	0.79938	GAG		0.716	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			36	62	0	0	0	0.004878	0	36	62				
EPHB3	2049	broad.mit.edu	37	3	184298534	184298534	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:184298534C>T	ENST00000330394.2	+	13	2858	c.2406C>T	c.(2404-2406)atC>atT	p.I802I	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	802	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGATCCCCATCCGCTGGACTG	0.642																																						ENST00000330394.2																			0				breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(2404-2406)atC>atT		EPH receptor B3							61.0	59.0	60.0					3																	184298534		2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184298534C>T	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2406C>T	3.37:g.184298534C>T						EIF2B5_ENST00000444495.1_Intron	p.I802I	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		13	2858	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		802			Protein kinase.		Q7Z740	Silent	SNP	ENST00000330394.2	37	c.2406C>T	CCDS3268.1																																																																																				0.642	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		15	76	0	0	0	0.004990	0	15	76				
RBM12	10137	broad.mit.edu	37	20	34242517	34242517	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr20:34242517C>T	ENST00000374114.3	-	3	991	c.728G>A	c.(727-729)gGc>gAc	p.G243D	CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.G243D|RBM12_ENST00000359646.1_Missense_Mutation_p.G243D|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000397442.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	243	Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGGCGGCATGCCCGACATGGG	0.552																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(727-729)gGc>gAc		RNA binding motif protein 12							73.0	71.0	72.0					20																	34242517		2203	4300	6503	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34242517C>T	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.728G>A	20.37:g.34242517C>T	ENSP00000363228:p.Gly243Asp					CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.G243D|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.G243D|CPNE1_ENST00000352393.4_Intron	p.G243D	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	991	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		243			Pro-rich.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.728G>A	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860805	0.32884	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942;ENST00000424458	T;T;T;T	0.21191	2.57;2.57;2.57;2.02	5.23	3.3	0.37823	.	0.166261	0.42294	D	0.000732	T	0.13713	0.0332	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.05354	-1.0890	10	0.87932	D	0	-3.4766	10.183	0.42980	0.1366:0.7931:0.0:0.0702	.	243	Q9NTZ6	RBM12_HUMAN	D	243;243;243;42;243	ENSP00000363228:G243D;ENSP00000352668:G243D;ENSP00000363217:G243D;ENSP00000411036:G243D	ENSP00000339879:G42D	G	-	2	0	RBM12	33705931	1.000000	0.71417	0.913000	0.36048	0.958000	0.62258	4.351000	0.59398	0.780000	0.33566	0.555000	0.69702	GGC		0.552	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		4	128	0	0	0	0.009096	0	4	128				
OR14A16	284532	broad.mit.edu	37	1	247978846	247978846	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:247978846C>T	ENST00000357627.1	-	1	185	c.186G>A	c.(184-186)aaG>aaA	p.K62K		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAGATAGATTCTTCAAGAAGA	0.418																																					Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(184-186)aaG>aaA		olfactory receptor, family 14, subfamily A, member 16							71.0	73.0	72.0					1																	247978846		2203	4300	6503	SO:0001819	synonymous_variant	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978846C>T	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.186G>A	1.37:g.247978846C>T							p.K62K	NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN			1	185	-			62					Q6IF96	Silent	SNP	ENST00000357627.1	37	c.186G>A	CCDS31097.1																																																																																				0.418	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		23	62	0	0	0	0.012319	0	23	62				
LRRC30	339291	broad.mit.edu	37	18	7231387	7231387	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr18:7231387G>A	ENST00000383467.2	+	1	265	c.251G>A	c.(250-252)cGg>cAg	p.R84Q		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	84										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AACCAGCTCCGGGTTCTCCCT	0.587																																						ENST00000383467.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(250-252)cGg>cAg		leucine rich repeat containing 30							52.0	54.0	54.0					18																	7231387		1918	4146	6064	SO:0001583	missense	339291							g.chr18:7231387G>A		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.251G>A	18.37:g.7231387G>A	ENSP00000372959:p.Arg84Gln						p.R84Q	NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN			1	265	+			84						Missense_Mutation	SNP	ENST00000383467.2	37	c.251G>A	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313634	0.40996	.	.	ENSG00000206422	ENST00000383467	T	0.08984	3.03	5.65	1.67	0.24075	.	1.088850	0.06828	N	0.793417	T	0.03178	0.0093	N	0.12471	0.22	0.09310	N	1	P	0.44816	0.844	B	0.35039	0.194	T	0.19289	-1.0310	10	0.10377	T	0.69	.	1.9925	0.03449	0.1481:0.1166:0.3104:0.4248	.	84	A6NM36	LRC30_HUMAN	Q	84	ENSP00000372959:R84Q	ENSP00000372959:R84Q	R	+	2	0	LRRC30	7221387	0.000000	0.05858	0.028000	0.17463	0.985000	0.73830	0.869000	0.27996	0.862000	0.35528	0.650000	0.86243	CGG		0.587	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		23	45	0	0	0	0.002780	0	23	45				
OCA2	4948	broad.mit.edu	37	15	28211914	28211914	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:28211914G>A	ENST00000354638.3	-	15	1713	c.1558C>T	c.(1558-1560)Ctc>Ttc	p.L520F	OCA2_ENST00000382996.2_Missense_Mutation_p.L520F|OCA2_ENST00000353809.5_Missense_Mutation_p.L496F	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	520					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CAGACCAGGAGAACAAGGCAA	0.483									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1558-1560)Ctc>Ttc		oculocutaneous albinism II							110.0	90.0	96.0					15																	28211914		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28211914G>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1558C>T	15.37:g.28211914G>A	ENSP00000346659:p.Leu520Phe					OCA2_ENST00000382996.2_Missense_Mutation_p.L520F|OCA2_ENST00000353809.5_Missense_Mutation_p.L496F	p.L520F	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	15	1713	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	520					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1558C>T	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067265	0.36470	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.92299	-3.01;-3.01;-3.01	5.18	5.18	0.71444	Divalent ion symporter (1);	0.063151	0.64402	D	0.000004	D	0.88570	0.6472	L	0.27975	0.815	0.54753	D	0.999988	B;B	0.24675	0.079;0.109	B;B	0.32724	0.069;0.151	D	0.85907	0.1438	10	0.51188	T	0.08	-22.1244	16.5492	0.84464	0.0:0.0:1.0:0.0	.	496;520	Q04671-2;Q04671	.;P_HUMAN	F	520;496;520	ENSP00000346659:L520F;ENSP00000261276:L496F;ENSP00000372457:L520F	ENSP00000261276:L496F	L	-	1	0	OCA2	25885509	1.000000	0.71417	0.966000	0.40874	0.063000	0.16089	6.807000	0.75201	2.563000	0.86464	0.650000	0.86243	CTC		0.483	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		13	23	0	0	0	0.013537	0	13	23				
TAPBP	6892	broad.mit.edu	37	6	33272808	33272808	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:33272808G>A	ENST00000489157.1	-	3	777	c.565C>T	c.(565-567)Cca>Tca	p.P189S	TAPBP_ENST00000434618.2_Missense_Mutation_p.P276S|TAPBP_ENST00000426633.2_Missense_Mutation_p.P276S|TAPBP_ENST00000475304.1_Missense_Mutation_p.P294S|TAPBP_ENST00000456592.2_Missense_Mutation_p.P276S			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	276					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						TGCAGGTATGGCAGGTGTATG	0.587																																						ENST00000434618.2																			0				endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						c.(826-828)Cca>Tca		TAP binding protein (tapasin)							146.0	145.0	145.0					6																	33272808		2203	4300	6503	SO:0001583	missense	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	g.chr6:33272808G>A	Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"""Immunoglobulin superfamily / C1-set domain containing"""	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.565C>T	6.37:g.33272808G>A	ENSP00000419659:p.Pro189Ser					TAPBP_ENST00000475304.1_Missense_Mutation_p.P294S|TAPBP_ENST00000489157.1_Missense_Mutation_p.P189S|TAPBP_ENST00000456592.2_Missense_Mutation_p.P276S|TAPBP_ENST00000426633.2_Missense_Mutation_p.P276S	p.P276S	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN			4	1171	-			276					A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Missense_Mutation	SNP	ENST00000489157.1	37	c.826C>T	CCDS34427.2	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487830	0.26686	.	.	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540;ENST00000437741	T;T;T;T;T	0.38887	1.16;1.24;1.43;1.11;1.16	4.69	3.82	0.43975	.	0.056860	0.64402	N	0.000001	T	0.15089	0.0364	L	0.39514	1.22	0.48087	D	0.999588	P;B;B;P;P;P	0.39022	0.655;0.329;0.379;0.655;0.655;0.524	B;B;B;B;B;B	0.32289	0.083;0.05;0.07;0.143;0.083;0.038	T	0.03784	-1.1004	10	0.40728	T	0.16	-6.6277	8.6357	0.33945	0.1039:0.0:0.8961:0.0	.	276;189;294;276;276;276	G5E9H8;E9PGM2;A2AB90;O15533-3;G3V0I4;O15533	.;.;.;.;.;TPSN_HUMAN	S	276;294;189;276;276;276;276	ENSP00000395701:P276S;ENSP00000417949:P294S;ENSP00000419659:P189S;ENSP00000404833:P276S;ENSP00000387803:P276S	ENSP00000404833:P276S	P	-	1	0	TAPBP	33380786	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.125000	0.50469	1.189000	0.43028	0.478000	0.44815	CCA		0.587	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276425.2			108	138	0	0	0	0.014410	0	108	138				
PIAS3	10401	broad.mit.edu	37	1	145581458	145581458	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:145581458C>T	ENST00000393045.2	+	9	1129	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*	PIAS3_ENST00000369298.1_Nonsense_Mutation_p.Q312*	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	347					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGCCCACCTGCAGAGCTTCGA	0.507																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1039-1041)Cag>Tag		protein inhibitor of activated STAT, 3							132.0	121.0	125.0					1																	145581458		2203	4300	6503	SO:0001587	stop_gained	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145581458C>T	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1039C>T	1.37:g.145581458C>T	ENSP00000376765:p.Gln347*					PIAS3_ENST00000369298.1_Nonsense_Mutation_p.Q312*	p.Q347*	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			9	1129	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		347					Q9UFI3	Nonsense_Mutation	SNP	ENST00000393045.2	37	c.1039C>T	CCDS920.2	.	.	.	.	.	.	.	.	.	.	c	38	6.794019	0.97845	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	.	.	.	5.86	5.86	0.93980	.	0.101905	0.42172	D	0.000742	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.2635	17.6844	0.88253	0.0:1.0:0.0:0.0	.	.	.	.	X	347;312	.	ENSP00000358304:Q312X	Q	+	1	0	PIAS3	144292815	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.809000	0.86057	2.769000	0.95229	0.651000	0.88453	CAG		0.507	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		89	74	0	0	0	0.014410	0	89	74				
OR6N1	128372	broad.mit.edu	37	1	158735618	158735618	+	Silent	SNP	G	G	A	rs370643310		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:158735618G>A	ENST00000335094.2	-	1	874	c.855C>T	c.(853-855)ctC>ctT	p.L285L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TGAAGGGGTTGAGGAAGGGTG	0.517																																						ENST00000335094.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(853-855)ctC>ctT		olfactory receptor, family 6, subfamily N, member 1							170.0	163.0	166.0					1																	158735618		2203	4300	6503	SO:0001819	synonymous_variant	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735618G>A	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.855C>T	1.37:g.158735618G>A							p.L285L	NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN			1	874	-	all_hematologic(112;0.0378)		285					Q5VUU8|Q96R35	Silent	SNP	ENST00000335094.2	37	c.855C>T	CCDS30905.1																																																																																				0.517	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		72	200	0	0	0	0.014410	0	72	200				
ABRA	137735	broad.mit.edu	37	8	107782023	107782023	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:107782023C>T	ENST00000311955.3	-	1	450	c.396G>A	c.(394-396)gaG>gaA	p.E132E		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CAGCATCCCTCTCGTACCTGT	0.542																																						ENST00000311955.3																			0				breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27						c.(394-396)gaG>gaA		actin-binding Rho activating protein							194.0	166.0	175.0					8																	107782023		2203	4300	6503	SO:0001819	synonymous_variant	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107782023C>T	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.396G>A	8.37:g.107782023C>T							p.E132E	NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	450	-			132						Silent	SNP	ENST00000311955.3	37	c.396G>A	CCDS6305.1																																																																																				0.542	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		62	155	0	0	0	0.014410	0	62	155				
ATP10B	23120	broad.mit.edu	37	5	160049574	160049574	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:160049574C>G	ENST00000327245.5	-	14	2485	c.1639G>C	c.(1639-1641)Gat>Cat	p.D547H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	547					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGTTTTTATCTGGAGTTACA	0.507																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(1639-1641)Gat>Cat		ATPase, class V, type 10B							92.0	93.0	93.0					5																	160049574		1917	4129	6046	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160049574C>G	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1639G>C	5.37:g.160049574C>G	ENSP00000313600:p.Asp547His					CTC-348L5.1_ENST00000523598.1_RNA	p.D547H	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		14	2485	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	547					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1639G>C	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.767731	0.90020	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.56275	0.47;1.4	5.53	5.53	0.82687	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	M	0.83118	2.625	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77362	-0.2616	9	.	.	.	.	18.4777	0.90799	0.0:1.0:0.0:0.0	.	155;547	Q2YDW8;O94823	.;AT10B_HUMAN	H	547;155	ENSP00000313600:D547H;ENSP00000431081:D155H	.	D	-	1	0	ATP10B	159982152	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.726000	0.84824	2.596000	0.87737	0.655000	0.94253	GAT		0.507	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		45	65	0	0	0	0.014410	0	45	65				
HSPA2	3306	broad.mit.edu	37	14	65008483	65008483	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:65008483G>C	ENST00000394709.1	+	2	992	c.916G>C	c.(916-918)Gag>Cag	p.E306Q	HSPA2_ENST00000247207.6_Missense_Mutation_p.E306Q|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	306					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CGCCCGCTTCGAGGAGCTCAA	0.652																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(916-918)Gag>Cag		heat shock 70kDa protein 2							21.0	22.0	22.0					14																	65008483		2203	4300	6503	SO:0001583	missense	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008483G>C	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.916G>C	14.37:g.65008483G>C	ENSP00000378199:p.Glu306Gln					HSPA2_ENST00000394709.1_Missense_Mutation_p.E306Q	p.E306Q	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	1298	+			306					Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	c.916G>C	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332594	0.60853	.	.	ENSG00000126803	ENST00000394709;ENST00000247207	T;T	0.01246	5.11;5.11	5.0	5.0	0.66597	.	0.000000	0.56097	U	0.000039	T	0.18002	0.0432	H	0.97940	4.11	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.39502	-0.9611	10	0.87932	D	0	-0.0085	18.2903	0.90127	0.0:0.0:1.0:0.0	.	306	P54652	HSP72_HUMAN	Q	306	ENSP00000378199:E306Q;ENSP00000247207:E306Q	ENSP00000247207:E306Q	E	+	1	0	HSPA2	64078236	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	9.869000	0.99810	2.322000	0.78497	0.563000	0.77884	GAG		0.652	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			10	19	0	0	0	0.008291	0	10	19				
PLCXD1	55344	broad.mit.edu	37	X	221851	221851	+	IGR	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chrX:221851C>T	ENST00000381657.2	+	0	5507				GTPBP6_ENST00000326153.4_Missense_Mutation_p.E252K	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1						lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACTGTGGCCTCCTTATACAGC	0.512																																						ENST00000326153.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7						c.(754-756)Gag>Aag		GTP binding protein 6 (putative)							126.0	138.0	134.0					X																	221851		2052	4182	6234	SO:0001628	intergenic_variant	8225					intracellular	GTP binding	g.chrX:221851C>T	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693		X.37:g.221851C>T							p.E252K			O43824	GTPB6_HUMAN			6	753	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	481					A2BH51|A2BH52	Missense_Mutation	SNP	ENST00000381657.2	37	c.754G>A	CCDS14103.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.38|10.38	1.332883|1.332883	0.24167|0.24167	.|.	.|.	ENSG00000178605|ENSG00000178605	ENST00000326153|ENST00000400701	.|.	.|.	.|.	2.04|2.04	2.04|2.04	0.26737|0.26737	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.51618|0.51618	0.1685|0.1685	.|.	.|.	.|.	0.46167|.	D|.	0.998901|.	P|.	0.38110|.	0.618|.	B|.	0.39419|.	0.299|.	T|T	0.60786|0.60786	-0.7194|-0.7194	7|3	0.05620|.	T|.	0.96|.	-30.9335|-30.9335	10.6219|10.6219	0.45484|0.45484	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	481|.	O43824|.	GTPB6_HUMAN|.	K|E	252|251	.|.	ENSP00000316598:E252K|.	E|G	-|-	1|2	0|0	GTPBP6|GTPBP6	161851|161851	1.000000|1.000000	0.71417|0.71417	0.069000|0.069000	0.20011|0.20011	0.070000|0.070000	0.16714|0.16714	5.355000|5.355000	0.66046|0.66046	0.928000|0.928000	0.37168|0.37168	0.164000|0.164000	0.16699|0.16699	GAG|GGA		0.512	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		37	12	0	0	0	0.007835	0	37	12				
GOLGA3	2802	broad.mit.edu	37	12	133350895	133350895	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr12:133350895C>T	ENST00000450791.2	-	22	4338	c.4155G>A	c.(4153-4155)ccG>ccA	p.P1385P	GOLGA3_ENST00000204726.3_Silent_p.P1385P			Q08378	GOGA3_HUMAN	golgin A3	1385					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCTCGCCTTTCGGCTCCTTTC	0.617																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4153-4155)ccG>ccA		golgin A3							56.0	58.0	57.0					12																	133350895		2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133350895C>T	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4155G>A	12.37:g.133350895C>T						GOLGA3_ENST00000450791.2_Silent_p.P1385P	p.P1385P	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	23	4713	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1385					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.4155G>A	CCDS9281.1																																																																																				0.617	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		28	49	0	0	0	0.009535	0	28	49				
OR2B6	26212	broad.mit.edu	37	6	27925541	27925541	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:27925541G>A	ENST00000244623.1	+	1	523	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTATGTGATAGATCACTTTCT	0.483																																						ENST00000244623.1																			0				endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(523-525)Gat>Aat		olfactory receptor, family 2, subfamily B, member 6							148.0	150.0	149.0					6																	27925541		2203	4300	6503	SO:0001583	missense	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925541G>A	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.523G>A	6.37:g.27925541G>A	ENSP00000244623:p.Asp175Asn						p.D175N	NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN			1	523	+			175					O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	c.523G>A	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	g	12.43	1.936709	0.34189	.	.	ENSG00000124657	ENST00000244623	T	0.00107	8.72	3.55	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34628	U	0.003801	T	0.00073	0.0002	N	0.12569	0.235	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62048	-0.6936	10	0.32370	T	0.25	.	13.417	0.60974	0.0:0.0:1.0:0.0	.	175	P58173	OR2B6_HUMAN	N	175	ENSP00000244623:D175N	ENSP00000244623:D175N	D	+	1	0	OR2B6	28033520	0.000000	0.05858	0.847000	0.33407	0.588000	0.36517	0.724000	0.25954	1.898000	0.54952	0.467000	0.42956	GAT		0.483	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			51	39	0	0	0	0.014410	0	51	39				
KHDC1	80759	broad.mit.edu	37	6	73951446	73951446	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:73951446C>G	ENST00000370384.3	-	5	1020	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	RP11-257K9.8_ENST00000423730.3_Intron|KHDC1_ENST00000257765.5_Missense_Mutation_p.E101Q	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	174						integral component of membrane (GO:0016021)	RNA binding (GO:0003723)			large_intestine(1)|lung(4)|skin(1)	6						TCCAGCATCTCCAGGCCTGCA	0.582																																						ENST00000370384.3																			0				large_intestine(1)|lung(4)|skin(1)	6						c.(520-522)Gag>Cag		KH homology domain containing 1							61.0	60.0	60.0					6																	73951446		1941	4157	6098	SO:0001583	missense	80759					integral to membrane	RNA binding	g.chr6:73951446C>G		CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"""chromosome 6 open reading frame 148"""	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.520G>C	6.37:g.73951446C>G	ENSP00000359411:p.Glu174Gln					KHDC1_ENST00000257765.5_Missense_Mutation_p.E101Q|RP11-257K9.8_ENST00000423730.3_Intron	p.E174Q	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN			5	1020	-			174					Q5JSQ7|Q8WTV2|Q96NQ5	Missense_Mutation	SNP	ENST00000370384.3	37	c.520G>C	CCDS59027.1	.	.	.	.	.	.	.	.	.	.	C	6.587	0.476586	0.12521	.	.	ENSG00000135314	ENST00000257765;ENST00000370384	T	0.32515	1.45	2.04	-1.34	0.09143	.	.	.	.	.	T	0.06096	0.0158	L	0.34521	1.04	0.09310	N	1	P	0.39424	0.673	B	0.38755	0.281	T	0.23190	-1.0195	9	0.26408	T	0.33	.	0.8557	0.01182	0.2348:0.3734:0.2313:0.1605	.	174	Q4VXA5	KHDC1_HUMAN	Q	101;174	ENSP00000359411:E174Q	ENSP00000257765:E101Q	E	-	1	0	KHDC1	74008167	0.000000	0.05858	0.002000	0.10522	0.087000	0.18053	-1.341000	0.02647	-0.390000	0.07774	-0.291000	0.09656	GAG		0.582	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000148103.2	NM_030568		27	35	0	0	0	0.007291	0	27	35				
PCDHGA4	56111	broad.mit.edu	37	5	140736827	140736827	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:140736827C>T	ENST00000571252.1	+	1	2060	c.2060C>T	c.(2059-2061)tCg>tTg	p.S687L	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	687					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGACGACTCGGGCCTCACA	0.617																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(2059-2061)tCg>tTg									38.0	43.0	41.0					5																	140736827		2195	4299	6494	SO:0001583	missense	56111							g.chr5:140736827C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.2060C>T	5.37:g.140736827C>T	ENSP00000458570:p.Ser687Leu					PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.S687L	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2060	+								Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.2060C>T	CCDS58979.1																																																																																				0.617	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		25	40	0	0	0	0.012213	0	25	40				
MZF1	7593	broad.mit.edu	37	19	59080894	59080894	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:59080894C>G	ENST00000215057.2	-	4	1200	c.640G>C	c.(640-642)Gag>Cag	p.E214Q	MZF1_ENST00000594234.1_Missense_Mutation_p.E214Q|MZF1_ENST00000599369.1_Missense_Mutation_p.E214Q|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594108.1_Missense_Mutation_p.E214Q	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	214					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TGGGCCTCCTCAGGCAGGAGG	0.597																																						ENST00000215057.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(640-642)Gag>Cag		myeloid zinc finger 1							59.0	54.0	55.0					19																	59080894		2203	4300	6503	SO:0001583	missense	7593				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:59080894C>G	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.640G>C	19.37:g.59080894C>G	ENSP00000215057:p.Glu214Gln					AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_Missense_Mutation_p.E214Q|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000594108.1_Missense_Mutation_p.E214Q|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.E214Q	p.E214Q	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	4	1200	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	214					M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	37	c.640G>C	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	.	11.92	1.783117	0.31593	.	.	ENSG00000099326	ENST00000215057	T	0.07444	3.19	4.11	0.367	0.16140	.	0.703205	0.11670	N	0.540939	T	0.03871	0.0109	N	0.08118	0	0.09310	N	0.999999	B;B	0.24186	0.079;0.099	B;B	0.24848	0.035;0.056	T	0.48091	-0.9065	9	.	.	.	-6.3306	6.7712	0.23594	0.0:0.4925:0.0:0.5075	.	214;214	Q7Z729;P28698	.;MZF1_HUMAN	Q	214	ENSP00000215057:E214Q	.	E	-	1	0	MZF1	63772706	0.014000	0.17966	0.408000	0.26446	0.881000	0.50899	-0.044000	0.12023	0.124000	0.18369	0.457000	0.33378	GAG		0.597	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		30	45	0	0	0	0.013726	0	30	45				
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM951226	TP53	M		c.(637-639)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578212G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*	p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	769	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		36	8	0	0	0	0.005524	0	36	8				
DNAAF1	123872	broad.mit.edu	37	16	84209596	84209596	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:84209596G>A	ENST00000378553.5	+	11	1880	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	586					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CAGTGACCCTGAACTGGACTA	0.453											OREG0023983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378553.5																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						c.(1756-1758)Gaa>Aaa		dynein, axonemal, assembly factor 1							99.0	89.0	92.0					16																	84209596		2200	4300	6500	SO:0001583	missense	123872				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	g.chr16:84209596G>A	BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1756G>A	16.37:g.84209596G>A	ENSP00000367815:p.Glu586Lys		OREG0023983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1227	DNAAF1_ENST00000563818.1_3'UTR	p.E586K	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN			11	1880	+			586					B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	ENST00000378553.5	37	c.1756G>A	CCDS10943.2	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826200	0.71143	.	.	ENSG00000154099	ENST00000378553	T	0.33438	1.41	4.86	4.86	0.63082	.	0.643562	0.14227	N	0.333023	T	0.48943	0.1528	L	0.55990	1.75	0.80722	D	1	D;D	0.71674	0.998;0.974	D;P	0.66979	0.948;0.811	T	0.30475	-0.9977	10	0.45353	T	0.12	-12.5767	13.3601	0.60650	0.0:0.0:1.0:0.0	.	350;586	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	K	586	ENSP00000367815:E586K	ENSP00000367815:E586K	E	+	1	0	DNAAF1	82767097	0.916000	0.31088	0.051000	0.19133	0.038000	0.13279	4.145000	0.58065	2.488000	0.83962	0.563000	0.77884	GAA		0.453	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3	NM_178452		41	69	0	0	0	0.010771	0	41	69				
PMS2	5395	broad.mit.edu	37	7	6029573	6029573	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:6029573G>C	ENST00000265849.7	-	10	1107	c.1002C>G	c.(1000-1002)atC>atG	p.I334M	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.I334M|PMS2_ENST00000441476.2_Missense_Mutation_p.I228M	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	334					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GAGTAACATTGATATCAACGC	0.289			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1000-1002)atC>atG	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							74.0	70.0	71.0					7																	6029573		2201	4300	6501	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6029573G>C		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1002C>G	7.37:g.6029573G>C	ENSP00000265849:p.Ile334Met					PMS2_ENST00000406569.3_Missense_Mutation_p.I334M|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.I228M	p.I334M	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	10	1107	-		Ovarian(82;0.0694)	334					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.1002C>G	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	g	16.43	3.121894	0.56613	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	D;D;D	0.84589	-1.87;-1.87;-1.87	5.64	2.78	0.32641	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.120808	0.56097	D	0.000027	D	0.89040	0.6602	M	0.86028	2.79	0.37752	D	0.926004	D;D;D	0.57899	0.98;0.981;0.975	P;P;P	0.58780	0.845;0.793;0.833	D	0.86994	0.2112	10	0.87932	D	0	-10.6533	3.4343	0.07440	0.1472:0.1357:0.5768:0.1403	.	334;334;228	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	M	334;287;228;334	ENSP00000265849:I334M;ENSP00000392843:I228M;ENSP00000384308:I334M	ENSP00000265849:I334M	I	-	3	3	PMS2	5996099	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	1.212000	0.32394	0.300000	0.22699	0.585000	0.79938	ATC		0.289	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		36	35	0	0	0	0.005524	0	36	35				
EML5	161436	broad.mit.edu	37	14	89192964	89192964	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:89192964G>C	ENST00000380664.5	-	8	1107	c.1108C>G	c.(1108-1110)Cgt>Ggt	p.R370G	EML5_ENST00000352093.5_Missense_Mutation_p.R370G|EML5_ENST00000554922.1_Missense_Mutation_p.R370G			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	370						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCTGCACAACGAATTGGTTCT	0.368																																						ENST00000554922.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1108-1110)Cgt>Ggt		echinoderm microtubule associated protein like 5							97.0	89.0	91.0					14																	89192964		1899	4125	6024	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89192964G>C	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.1108C>G	14.37:g.89192964G>C	ENSP00000370039:p.Arg370Gly					EML5_ENST00000380664.5_Missense_Mutation_p.R370G|EML5_ENST00000352093.5_Missense_Mutation_p.R370G	p.R370G	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			8	1356	-			370					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.1108C>G	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708472	0.89018	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.17854	2.25;2.25;4.97	5.08	5.08	0.68730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.52468	0.1736	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59198	-0.7499	10	0.34782	T	0.22	-15.1894	18.6491	0.91423	0.0:0.0:1.0:0.0	.	370	Q05BV3	EMAL5_HUMAN	G	370	ENSP00000451998:R370G;ENSP00000298315:R370G;ENSP00000370039:R370G	ENSP00000298315:R370G	R	-	1	0	EML5	88262717	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.263000	0.95617	2.640000	0.89533	0.561000	0.74099	CGT		0.368	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			3	14	0	0	0	0.004672	0	3	14				
DGCR5	26220	broad.mit.edu	37	22	18979430	18979430	+	RNA	SNP	G	G	C	rs534406602	byFrequency	TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr22:18979430G>C	ENST00000421572.1	+	0	1136				DGCR5_ENST00000537283.1_RNA|DGCR5_ENST00000438934.1_RNA|DGCR5_ENST00000440005.2_RNA					DiGeorge syndrome critical region gene 5 (non-protein coding)																		CGTCCTGGTGGAGTTCACCCT	0.577													G|||	5	0.000998403	0.0038	0.0	5008	,	,		16493	0.0		0.0	False		,,,				2504	0.0					ENST00000438934.1																			0																																																			26220							g.chr22:18979430G>C	X91348		22q11	2012-10-16	2008-08-13		ENSG00000237517	ENSG00000237517		"""Long non-coding RNAs"""	16757	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 37"", ""long intergenic non-protein coding RNA 37"""					8659529	Standard	NR_002733		Approved	NCRNA00037, LINC00037	uc021wku.1		OTTHUMG00000149977		22.37:g.18979430G>C						DGCR5_ENST00000440005.2_RNA								0	2781	+									RNA	SNP	ENST00000421572.1	37																																																																																						0.577	DGCR5-004	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000316630.1	NR_002733		16	22	0	0	0	0.004990	0	16	22				
IFNGR1	3459	broad.mit.edu	37	6	137540429	137540429	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:137540429C>G	ENST00000367739.4	-	1	157	c.36G>C	c.(34-36)caG>caC	p.Q12H	IFNGR1_ENST00000543628.1_5'Flank|IFNGR1_ENST00000367735.2_5'UTR|IFNGR1_ENST00000478333.1_5'UTR	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	12					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TGCTCACACCCTGCATGACAA	0.692																																						ENST00000367739.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18						c.(34-36)caG>caC		interferon gamma receptor 1	Interferon gamma-1b(DB00033)						43.0	42.0	42.0					6																	137540429		2201	4300	6501	SO:0001583	missense	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137540429C>G		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.36G>C	6.37:g.137540429C>G	ENSP00000356713:p.Gln12His					IFNGR1_ENST00000367735.2_5'UTR|IFNGR1_ENST00000478333.1_5'UTR	p.Q12H	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	1	157	-	Colorectal(23;0.24)		12					B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	c.36G>C	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276934	0.40294	.	.	ENSG00000027697	ENST00000367739;ENST00000418947;ENST00000458076	T;T	0.81163	-0.62;-1.46	4.13	1.2	0.21068	.	2.507670	0.01373	N	0.012656	T	0.73133	0.3548	L	0.44542	1.39	0.20403	N	0.9999	D	0.56746	0.977	P	0.58520	0.84	T	0.57705	-0.7765	10	0.45353	T	0.12	0.0	5.8526	0.18701	0.0:0.6308:0.0:0.3692	.	12	P15260	INGR1_HUMAN	H	12	ENSP00000356713:Q12H;ENSP00000389249:Q12H	ENSP00000356713:Q12H	Q	-	3	2	IFNGR1	137582122	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.160000	0.16462	0.235000	0.21160	-0.345000	0.07892	CAG		0.692	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			12	21	0	0	0	0.007413	0	12	21				
TMEM40	55287	broad.mit.edu	37	3	12777058	12777058	+	Silent	SNP	C	C	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:12777058C>A	ENST00000314124.7	-	11	1034	c.678G>T	c.(676-678)ctG>ctT	p.L226L	TMEM40_ENST00000435575.1_Silent_p.L150L|TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000431022.2_Silent_p.L242L|TMEM40_ENST00000435218.2_Silent_p.L196L|TMEM40_ENST00000264728.8_Silent_p.L226L	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	226						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						AGTTACCTGTCAGCCTAAACT	0.453																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(676-678)ctG>ctT		transmembrane protein 40							103.0	102.0	102.0					3																	12777058		2203	4300	6503	SO:0001819	synonymous_variant	55287					integral to membrane		g.chr3:12777058C>A	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.678G>T	3.37:g.12777058C>A						TMEM40_ENST00000264728.8_Silent_p.L226L|TMEM40_ENST00000435218.2_Silent_p.L196L|TMEM40_ENST00000435575.1_Silent_p.L150L|TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000431022.2_Silent_p.L242L	p.L226L	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			11	1034	-			226					C9JID5|Q8NAL4|Q9NUZ4	Silent	SNP	ENST00000314124.7	37	c.678G>T	CCDS2613.1																																																																																				0.453	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		7	69	1	0	2.74318e-10	0.006214	2.87417e-10	7	69				
MOAP1	64112	broad.mit.edu	37	14	93650551	93650551	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:93650551T>C	ENST00000556883.1	-	2	521	c.37A>G	c.(37-39)Atg>Gtg	p.M13V	MOAP1_ENST00000298894.4_Missense_Mutation_p.M13V|RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000283534.4_5'Flank|TMEM251_ENST00000415050.2_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	13					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ttcatgtccatccccctgcac	0.507																																						ENST00000556883.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13						c.(37-39)Atg>Gtg		modulator of apoptosis 1							106.0	118.0	114.0					14																	93650551		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93650551T>C	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.37A>G	14.37:g.93650551T>C	ENSP00000451594:p.Met13Val					MOAP1_ENST00000298894.4_Missense_Mutation_p.M13V	p.M13V			Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	2	521	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	13					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.37A>G	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.523326	0.27299	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.14516	2.5;2.5	3.46	2.26	0.28386	.	.	.	.	.	T	0.29256	0.0728	M	0.67397	2.05	0.22226	N	0.999271	D	0.60160	0.987	D	0.66602	0.945	T	0.04693	-1.0933	9	0.66056	D	0.02	-12.5177	6.7674	0.23575	0.0:0.0:0.2411:0.7589	.	13	Q96BY2	MOAP1_HUMAN	V	13	ENSP00000298894:M13V;ENSP00000451594:M13V	ENSP00000298894:M13V	M	-	1	0	MOAP1	92720304	0.956000	0.32656	0.579000	0.28588	0.034000	0.12701	2.478000	0.45189	0.685000	0.31468	0.529000	0.55759	ATG		0.507	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			5	169	0	0	0	0.001984	0	5	169				
LHFPL5	222662	broad.mit.edu	37	6	35773513	35773513	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:35773513G>A	ENST00000373853.1	+	1	444	c.66G>A	c.(64-66)tcG>tcA	p.S22S	LHFPL5_ENST00000360215.1_Silent_p.S22S			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	22					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)		p.S22S(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TGCGGAACTCGCGAGCCGTGG	0.617																																						ENST00000360215.1																			1	Substitution - coding silent(1)	p.S22S(1)	prostate(1)	endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(64-66)tcG>tcA		lipoma HMGIC fusion partner-like 5							158.0	138.0	145.0					6																	35773513		2203	4300	6503	SO:0001819	synonymous_variant	222662					integral to membrane		g.chr6:35773513G>A	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.66G>A	6.37:g.35773513G>A						LHFPL5_ENST00000373853.1_Silent_p.S22S	p.S22S	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN			1	443	+			22					B3KX66	Silent	SNP	ENST00000373853.1	37	c.66G>A	CCDS4812.1																																																																																				0.617	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		30	122	0	0	0	0.009535	0	30	122				
DLG2	1740	broad.mit.edu	37	11	84245714	84245714	+	Missense_Mutation	SNP	C	C	G	rs374177340		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:84245714C>G	ENST00000532653.1	-	2	405	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q	DLG2_ENST00000376104.2_Missense_Mutation_p.E140Q|DLG2_ENST00000398309.2_Missense_Mutation_p.E35Q|DLG2_ENST00000524982.1_Missense_Mutation_p.E35Q|DLG2_ENST00000543673.1_Missense_Mutation_p.E140Q			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CCTCTTACTTCGTGGGTTAGT	0.398																																						ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(103-105)Gaa>Caa		discs, large homolog 2 (Drosophila)							191.0	177.0	181.0					11																	84245714		1870	4118	5988	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84245714C>G	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.103G>C	11.37:g.84245714C>G	ENSP00000435849:p.Glu35Gln					DLG2_ENST00000532653.1_Missense_Mutation_p.E35Q|DLG2_ENST00000376104.2_Missense_Mutation_p.E140Q|DLG2_ENST00000524982.1_Missense_Mutation_p.E35Q|DLG2_ENST00000543673.1_Missense_Mutation_p.E140Q	p.E35Q	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			2	573	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	35					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.103G>C		.	.	.	.	.	.	.	.	.	.	C	26.8	4.767878	0.90020	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000527088	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.88	5.88	0.94601	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);	0.000000	0.64402	D	0.000010	T	0.46014	0.1371	N	0.25647	0.755	0.80722	D	1	P;B;P;P	0.50156	0.839;0.221;0.932;0.879	P;B;P;P	0.47786	0.557;0.107;0.518;0.548	T	0.18967	-1.0320	9	.	.	.	.	20.2279	0.98344	0.0:1.0:0.0:0.0	.	35;35;140;35	B7Z2T4;E9PN83;Q15700-2;Q15700	.;.;.;DLG2_HUMAN	Q	35;140;140;35;35;140;56	ENSP00000381355:E35Q;ENSP00000365272:E140Q;ENSP00000441994:E140Q;ENSP00000432894:E35Q;ENSP00000435849:E35Q;ENSP00000435809:E56Q	.	E	-	1	0	DLG2	83923362	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.328000	0.79160	2.778000	0.95560	0.655000	0.94253	GAA		0.398	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		47	83	0	0	0	0.014410	0	47	83				
EVI2B	2124	broad.mit.edu	37	17	29632227	29632227	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:29632227G>C	ENST00000330927.4	-	2	555	c.401C>G	c.(400-402)tCt>tGt	p.S134C	EVI2B_ENST00000544462.1_Missense_Mutation_p.S149C|EVI2B_ENST00000577894.1_Missense_Mutation_p.S134C|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	134						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTGTGTGGTAGAAGTACGGGC	0.448																																						ENST00000330927.4																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(400-402)tCt>tGt		ecotropic viral integration site 2B							481.0	386.0	418.0					17																	29632227		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29632227G>C		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.401C>G	17.37:g.29632227G>C	ENSP00000333779:p.Ser134Cys					NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.S134C|EVI2B_ENST00000544462.1_Missense_Mutation_p.S149C	p.S134C	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	555	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	134					B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.401C>G	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875319	0.33162	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.60920	0.16;0.15	4.88	0.64	0.17752	.	0.459903	0.18210	N	0.148236	T	0.60573	0.2279	M	0.62723	1.935	0.09310	N	1	D;D	0.54964	0.969;0.963	P;P	0.54026	0.694;0.74	T	0.52624	-0.8551	10	0.66056	D	0.02	0.8893	7.0429	0.25031	0.385:0.0:0.615:0.0	.	149;134	B7Z4A7;P34910	.;EVI2B_HUMAN	C	134;149	ENSP00000333779:S134C;ENSP00000439738:S149C	ENSP00000333779:S134C	S	-	2	0	EVI2B	26656353	0.223000	0.23663	0.001000	0.08648	0.062000	0.15995	1.406000	0.34646	0.283000	0.22279	-0.254000	0.11334	TCT		0.448	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		127	216	0	0	0	0.014410	0	127	216				
LACE1	246269	broad.mit.edu	37	6	108616315	108616315	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:108616315T>C	ENST00000368977.4	+	1	218	c.32T>C	c.(31-33)cTg>cCg	p.L11P	RNU6-1144P_ENST00000384247.1_RNA	NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	11						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TTGGTTACCCTGCGCCCCTTA	0.617																																						ENST00000368977.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(31-33)cTg>cCg		lactation elevated 1							31.0	32.0	32.0					6																	108616315		2203	4297	6500	SO:0001583	missense	246269						ATP binding	g.chr6:108616315T>C	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.32T>C	6.37:g.108616315T>C	ENSP00000357973:p.Leu11Pro						p.L11P	NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	1	218	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	11					Q8N6A3	Missense_Mutation	SNP	ENST00000368977.4	37	c.32T>C	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.691818	0.48097	.	.	ENSG00000135537	ENST00000368977	.	.	.	5.55	5.55	0.83447	.	0.601171	0.14917	N	0.290876	T	0.39989	0.1099	L	0.27053	0.805	0.58432	D	0.999995	P	0.51791	0.948	P	0.52267	0.694	T	0.39603	-0.9606	9	0.56958	D	0.05	-0.6364	12.0641	0.53578	0.0:0.0:0.0:1.0	.	11	Q8WV93	LACE1_HUMAN	P	11	.	ENSP00000357973:L11P	L	+	2	0	LACE1	108723008	1.000000	0.71417	0.766000	0.31476	0.011000	0.07611	3.790000	0.55461	2.106000	0.64143	0.482000	0.46254	CTG		0.617	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		3	49	0	0	0	0.004672	0	3	49				
PLA2G15	23659	broad.mit.edu	37	16	68293433	68293433	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:68293433G>T	ENST00000219345.5	+	6	1195	c.1112G>T	c.(1111-1113)tGc>tTc	p.C371F	RP11-96D1.7_ENST00000563175.1_RNA|RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000413021.2_Missense_Mutation_p.C277F|PLA2G15_ENST00000566188.1_3'UTR|PLA2G15_ENST00000444212.2_Missense_Mutation_p.C171F	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	371					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GCCCTGCAGTGCCAGGCCTGG	0.587																																						ENST00000219345.5																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						c.(1111-1113)tGc>tTc		phospholipase A2, group XV							56.0	56.0	56.0					16																	68293433		2198	4300	6498	SO:0001583	missense	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68293433G>T	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.1112G>T	16.37:g.68293433G>T	ENSP00000219345:p.Cys371Phe					PLA2G15_ENST00000566188.1_3'UTR|PLA2G15_ENST00000444212.2_Missense_Mutation_p.C171F|PLA2G15_ENST00000413021.2_Missense_Mutation_p.C277F|RP11-96D1.7_ENST00000563175.1_RNA	p.C371F	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN			6	1195	+			371					B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	ENST00000219345.5	37	c.1112G>T	CCDS10864.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679368	0.88542	.	.	ENSG00000103066	ENST00000413021;ENST00000219345;ENST00000444212	D;D;D	0.97620	-4.46;-4.46;-4.46	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.98528	1.0626	10	0.49607	T	0.09	-33.2077	20.1672	0.98154	0.0:0.0:1.0:0.0	.	171;277;371	B4DPU0;B4DUD1;Q8NCC3	.;.;PAG15_HUMAN	F	277;371;171	ENSP00000394197:C277F;ENSP00000219345:C371F;ENSP00000393610:C171F	ENSP00000219345:C371F	C	+	2	0	PLA2G15	66850934	1.000000	0.71417	0.996000	0.52242	0.889000	0.51656	9.765000	0.98953	2.861000	0.98227	0.655000	0.94253	TGC		0.587	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		21	40	1	0	2.89027e-11	0.014323	3.0627e-11	21	40				
IGSF10	285313	broad.mit.edu	37	3	151155347	151155347	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:151155347C>G	ENST00000282466.3	-	6	7001	c.7002G>C	c.(7000-7002)ctG>ctC	p.L2334L	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2334					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCGGTCTTCTCAGCATTTCCA	0.448																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(7000-7002)ctG>ctC		immunoglobulin superfamily, member 10							139.0	138.0	139.0					3																	151155347		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151155347C>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7002G>C	3.37:g.151155347C>G						IGSF10_ENST00000495443.1_5'UTR	p.L2334L	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	7001	-			2334					Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.7002G>C	CCDS3160.1																																																																																				0.448	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		67	178	0	0	0	0.014410	0	67	178				
MYL9	10398	broad.mit.edu	37	20	35173441	35173441	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr20:35173441G>T	ENST00000279022.2	+	2	258	c.154G>T	c.(154-156)Gag>Tag	p.E52*	RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Nonsense_Mutation_p.E52*	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	52	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CATTGACAAGGAGGACCTGCA	0.542																																						ENST00000279022.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8						c.(154-156)Gag>Tag		myosin, light chain 9, regulatory							104.0	91.0	95.0					20																	35173441		2203	4300	6503	SO:0001587	stop_gained	10398				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr20:35173441G>T	J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"""Myosins / Light chain"", ""EF-hand domain containing"""	15754	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2, smooth muscle isoform"", ""myosin regulatory light chain 1"""	609905	"""myosin, light polypeptide 9, regulatory"""			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.154G>T	20.37:g.35173441G>T	ENSP00000279022:p.Glu52*					MYL9_ENST00000346786.2_Nonsense_Mutation_p.E52*|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	p.E52*	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN			2	258	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	52			EF-hand 1.		E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Nonsense_Mutation	SNP	ENST00000279022.2	37	c.154G>T	CCDS13276.1	.	.	.	.	.	.	.	.	.	.	G	36	5.677004	0.96764	.	.	ENSG00000101335	ENST00000279022;ENST00000346786	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	16.5061	0.84272	0.0:0.0:1.0:0.0	.	.	.	.	X	52	.	ENSP00000279022:E52X	E	+	1	0	MYL9	34606855	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.299000	0.77371	0.655000	0.94253	GAG		0.542	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097		13	74	1	0	3.41278e-10	0.004990	3.56574e-10	13	74				
CCSAP	126731	broad.mit.edu	37	1	229478177	229478177	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:229478177C>T	ENST00000366687.1	-	1	87	c.36G>A	c.(34-36)atG>atA	p.M12I	CCSAP_ENST00000284617.2_Missense_Mutation_p.M12I|CCSAP_ENST00000452552.1_Missense_Mutation_p.M12I|CCSAP_ENST00000366686.1_5'Flank|CCSAP_ENST00000483092.1_5'UTR			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein	12					multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)											GGTAGCGCTTCATGTACTCGC	0.726																																						ENST00000284617.2																			0											c.(34-36)atG>atA		centriole, cilia and spindle-associated protein							12.0	14.0	13.0					1																	229478177		2153	4233	6386	SO:0001583	missense	126731							g.chr1:229478177C>T	BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"""centriole and spindle-associated protein"""		"""chromosome 1 open reading frame 96"""	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.36G>A	1.37:g.229478177C>T	ENSP00000355648:p.Met12Ile					CCSAP_ENST00000452552.1_Missense_Mutation_p.M12I|CCSAP_ENST00000366687.1_Missense_Mutation_p.M12I|CCSAP_ENST00000483092.1_5'UTR	p.M12I	NM_145257.3	NP_660300.3					2	160	-								A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	Missense_Mutation	SNP	ENST00000366687.1	37	c.36G>A	CCDS1577.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481821	0.84747	.	.	ENSG00000154429	ENST00000366687;ENST00000284617;ENST00000452552	T;T;T	0.47869	0.83;0.83;0.83	4.1	4.1	0.47936	.	0.100739	0.64402	U	0.000003	T	0.45357	0.1338	M	0.69823	2.125	0.51767	D	0.999933	P	0.38677	0.642	B	0.32211	0.142	T	0.56866	-0.7908	10	0.62326	D	0.03	0.7643	14.2347	0.65919	0.0:1.0:0.0:0.0	.	12	Q6IQ19	CA096_HUMAN	I	12	ENSP00000355648:M12I;ENSP00000284617:M12I;ENSP00000392927:M12I	ENSP00000284617:M12I	M	-	3	0	C1orf96	227544800	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.357000	0.66058	2.073000	0.62155	0.555000	0.69702	ATG		0.726	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091839.1	NM_145257		10	32	0	0	0	0.001855	0	10	32				
PRSS36	146547	broad.mit.edu	37	16	31153248	31153248	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:31153248C>G	ENST00000268281.4	-	11	1613	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q	PRSS36_ENST00000418068.2_Missense_Mutation_p.E519Q|PRSS36_ENST00000569305.1_Missense_Mutation_p.E514Q	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	519	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CAGGTCCCCTCCTCCTGGCAC	0.557																																						ENST00000268281.4																			0				kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						c.(1555-1557)Gag>Cag		protease, serine, 36							99.0	92.0	94.0					16																	31153248		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31153248C>G	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.1555G>C	16.37:g.31153248C>G	ENSP00000268281:p.Glu519Gln					PRSS36_ENST00000569305.1_Missense_Mutation_p.E514Q|PRSS36_ENST00000418068.2_Missense_Mutation_p.E519Q	p.E519Q	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN			11	1613	-			519			Peptidase S1 2.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.1555G>C	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766321	0.31228	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	T;T	0.30448	1.53;1.53	5.15	3.08	0.35506	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	.	.	.	.	T	0.28499	0.0705	M	0.65498	2.005	0.26636	N	0.972386	B;P;P	0.39717	0.322;0.501;0.684	B;B;B	0.38378	0.142;0.086;0.272	T	0.13202	-1.0518	9	0.30078	T	0.28	.	5.4541	0.16580	0.2116:0.6873:0.0:0.1011	.	519;514;519	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	Q	519	ENSP00000268281:E519Q;ENSP00000407160:E519Q	ENSP00000268281:E519Q	E	-	1	0	PRSS36	31060749	0.759000	0.28416	0.997000	0.53966	0.533000	0.34776	0.378000	0.20569	1.409000	0.46915	0.555000	0.69702	GAG		0.557	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		46	89	0	0	0	0.014410	0	46	89				
ZNF559	84527	broad.mit.edu	37	19	9453221	9453221	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:9453221C>G	ENST00000393883.2	+	6	1742	c.1094C>G	c.(1093-1095)tCt>tGt	p.S365C	ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000538743.1_Missense_Mutation_p.S285C|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.S429C|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000602856.1_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.S365C	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTTGCTAACTCTTCACATCTT	0.378																																						ENST00000393883.2																			0				endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						c.(1093-1095)tCt>tGt		zinc finger protein 559							67.0	61.0	63.0					19																	9453221		2203	4300	6503	SO:0001583	missense	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9453221C>G	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1094C>G	19.37:g.9453221C>G	ENSP00000377461:p.Ser365Cys					ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.S365C|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Missense_Mutation_p.S285C|ZNF559_ENST00000587557.1_Missense_Mutation_p.S429C	p.S365C	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN			6	1742	+			365					K7EMG6	Missense_Mutation	SNP	ENST00000393883.2	37	c.1094C>G	CCDS12211.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662812	0.47572	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.08102	3.13;3.13	2.0	-0.197	0.13228	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12135	0.0295	M	0.74389	2.26	0.09310	N	1	P;D;D	0.60160	0.923;0.98;0.987	B;P;B	0.46299	0.199;0.511;0.223	T	0.16070	-1.0415	9	0.54805	T	0.06	.	4.8867	0.13706	0.0:0.5042:0.0:0.4958	.	365;365;285	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	C	365;285;365	ENSP00000442832:S285C;ENSP00000377461:S365C	ENSP00000325393:S365C	S	+	2	0	ZNF559	9314221	0.000000	0.05858	0.000000	0.03702	0.824000	0.46624	-4.640000	0.00204	0.017000	0.15025	0.313000	0.20887	TCT		0.378	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		13	23	0	0	0	0.013537	0	13	23				
GRIN2A	2903	broad.mit.edu	37	16	9857426	9857426	+	Silent	SNP	G	G	A	rs545080350		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:9857426G>A	ENST00000396573.2	-	14	4284	c.3975C>T	c.(3973-3975)taC>taT	p.Y1325Y	GRIN2A_ENST00000396575.2_Silent_p.Y1325Y|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000330684.3_Silent_p.Y1325Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1325					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.Y1325Y(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACAGGCTGCCGTAAAAATTTC	0.527																																						ENST00000396573.2																			1	Substitution - coding silent(1)	p.Y1325Y(1)	lung(1)	NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3973-3975)taC>taT		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						85.0	89.0	88.0					16																	9857426		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857426G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3975C>T	16.37:g.9857426G>A						GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000330684.3_Silent_p.Y1325Y|GRIN2A_ENST00000396575.2_Silent_p.Y1325Y	p.Y1325Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	4284	-			1325					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.3975C>T	CCDS10539.1																																																																																				0.527	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			56	86	0	0	0	0.014410	0	56	86				
FXYD5	53827	broad.mit.edu	37	19	35646421	35646421	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:35646421C>A	ENST00000342879.3	+	0	746				FXYD5_ENST00000541435.2_Intron|FXYD5_ENST00000392219.2_Intron|FXYD5_ENST00000392218.2_Intron|FXYD5_ENST00000423817.3_Intron|FXYD5_ENST00000588699.1_Intron|FXYD5_ENST00000590686.1_Intron|FXYD5_ENST00000543307.1_Intron			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5						microvillus assembly (GO:0030033)|negative regulation of calcium-dependent cell-cell adhesion (GO:0046588)	integral component of membrane (GO:0016021)	actin binding (GO:0003779)|cadherin binding (GO:0045296)|ion channel activity (GO:0005216)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TCACTGACATCATGGCTGACC	0.627																																						ENST00000342879.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9								FXYD domain containing ion transport regulator 5							101.0	73.0	82.0					19																	35646421		2203	4300	6503			53827				microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity	g.chr19:35646421C>A	AF161462	CCDS12447.1	19q13.12	2008-02-05	2002-01-14		ENSG00000089327	ENSG00000089327			4029	protein-coding gene	gene with protein product	"""dysadherin"""	606669	"""FXYD domain-containing ion transport regulator 5"""				Standard	NM_144779		Approved	OIT2	uc002nyg.2	Q96DB9	OTTHUMG00000048092	ENST00000342879.3:c.-33C>A	19.37:g.35646421C>A						FXYD5_ENST00000392218.2_Intron|FXYD5_ENST00000541435.2_Intron|FXYD5_ENST00000590686.1_Intron|FXYD5_ENST00000588699.1_Intron|FXYD5_ENST00000543307.1_Intron|FXYD5_ENST00000392219.2_Intron|FXYD5_ENST00000423817.3_Intron				Q96DB9	FXYD5_HUMAN	Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)		0	746	+	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)							B7WNZ8|Q6UW44|Q9HC34|Q9P039	Translation_Start_Site	SNP	ENST00000342879.3	37		CCDS12447.1																																																																																				0.627	FXYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109443.1	NM_014164		12	51	1	0	7.03913e-09	0.013537	7.27311e-09	12	51				
TRIB1	10221	broad.mit.edu	37	8	126445719	126445719	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:126445719G>A	ENST00000520847.1	+	2	277	c.23G>A	c.(22-24)cGg>cAg	p.R8Q	TRIB1_ENST00000521778.1_3'UTR|TRIB1_ENST00000519576.1_5'Flank|TRIB1_ENST00000311922.3_Missense_Mutation_p.R174Q					tribbles pseudokinase 1											NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			GTGCGAAGCCGGAAGAGGCTG	0.572																																						ENST00000311922.3																			0				NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(520-522)cGg>cAg		tribbles pseudokinase 1							101.0	103.0	102.0					8																	126445719		2203	4300	6503	SO:0001583	missense	10221				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr8:126445719G>A	AF205437	CCDS6357.1, CCDS64971.1	8q24.13	2013-10-03	2013-10-03			ENSG00000173334			16891	protein-coding gene	gene with protein product		609461	"""tribbles homolog 1 (Drosophila)"""			9342215, 16715410	Standard	NM_001282985		Approved	C8FW, GIG2, TRB1	uc003yrx.3	Q96RU8		ENST00000520847.1:c.23G>A	8.37:g.126445719G>A	ENSP00000429063:p.Arg8Gln					TRIB1_ENST00000520847.1_Missense_Mutation_p.R8Q|TRIB1_ENST00000521778.1_3'UTR	p.R174Q	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)		2	1103	+	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		174			Protein kinase.			Missense_Mutation	SNP	ENST00000520847.1	37	c.521G>A		.	.	.	.	.	.	.	.	.	.	G	19.44	3.827587	0.71143	.	.	ENSG00000173334	ENST00000311922;ENST00000520847	T;T	0.65178	-0.14;-0.14	4.82	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.29466	U	0.012072	T	0.60702	0.2289	L	0.49699	1.58	0.80722	D	1	D	0.54601	0.967	P	0.44921	0.464	T	0.60068	-0.7335	10	0.26408	T	0.33	-18.6263	18.2624	0.90041	0.0:0.0:1.0:0.0	.	174	Q96RU8	TRIB1_HUMAN	Q	174;8	ENSP00000312150:R174Q;ENSP00000429063:R8Q	ENSP00000312150:R174Q	R	+	2	0	TRIB1	126514901	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.401000	0.81631	0.436000	0.28706	CGG		0.572	TRIB1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000381431.1	NM_025195		94	202	0	0	0	0.014410	0	94	202				
PUF60	22827	broad.mit.edu	37	8	144902849	144902849	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:144902849G>C	ENST00000526683.1	-	5	890	c.335C>G	c.(334-336)tCa>tGa	p.S112*	PUF60_ENST00000349157.6_Intron|PUF60_ENST00000313352.7_Intron|PUF60_ENST00000453551.2_Nonsense_Mutation_p.S69*|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000456095.2_Nonsense_Mutation_p.S83*|PUF60_ENST00000527197.1_Intron	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	112	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TTGCAAAGGTGAGAGAGGATC	0.547																																						ENST00000526683.1																			0				NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14						c.(334-336)tCa>tGa		poly-U binding splicing factor 60KDa							204.0	213.0	210.0					8																	144902849		2084	4215	6299	SO:0001587	stop_gained	22827				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr8:144902849G>C	AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.335C>G	8.37:g.144902849G>C	ENSP00000434359:p.Ser112*					PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000456095.2_Nonsense_Mutation_p.S83*|PUF60_ENST00000527197.1_Intron|PUF60_ENST00000453551.2_Nonsense_Mutation_p.S69*|PUF60_ENST00000349157.6_Intron|PUF60_ENST00000313352.7_Intron	p.S112*	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		5	890	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		112			Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Nonsense_Mutation	SNP	ENST00000526683.1	37	c.335C>G	CCDS47934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.229188|9.229188	0.99108|0.99108	.|.	.|.	ENSG00000179950|ENSG00000179950	ENST00000527744|ENST00000526683;ENST00000453551;ENST00000456095;ENST00000533162	.|.	.|.	.|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.72550|.	0.3474|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69928|.	-0.5012|.	4|.	.|0.33940	.|T	.|0.23	.|.	17.9|17.9	0.88900|0.88900	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	110|112;69;83;149	.|.	.|ENSP00000402953:S69X	H|S	-|-	1|2	0|0	PUF60|PUF60	144974837|144974837	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.201000|7.201000	0.77847|0.77847	2.474000|2.474000	0.83562|0.83562	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.547	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382222.1	NM_014281		78	246	0	0	0	0.014410	0	78	246				
ZNF106	64397	broad.mit.edu	37	15	42743329	42743329	+	Silent	SNP	G	G	A	rs200060472		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:42743329G>A	ENST00000263805.4	-	2	1398	c.1072C>T	c.(1072-1074)Ctg>Ttg	p.L358L	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	358					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGTAAATCCAGAGTCTTCTGA	0.438																																						ENST00000263805.4																			0											c.(1072-1074)Ctg>Ttg		zinc finger protein 106							124.0	120.0	121.0					15																	42743329		2203	4299	6502	SO:0001819	synonymous_variant	64397							g.chr15:42743329G>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1072C>T	15.37:g.42743329G>A						ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.L358L	NM_022473.1	NP_071918.1					2	1398	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	ENST00000263805.4	37	c.1072C>T	CCDS32208.1																																																																																				0.438	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		49	63	0	0	0	0.014410	0	49	63				
CFB	629	broad.mit.edu	37	6	31915793	31915793	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:31915793T>A	ENST00000425368.2	+	6	1345	c.832T>A	c.(832-834)Tca>Aca	p.S278T	CFB_ENST00000456570.1_Missense_Mutation_p.S780T|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.S629T|CFB_ENST00000556679.1_Missense_Mutation_p.S780T	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	278	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GCTAGATGGATCAGACAGCAT	0.537																																						ENST00000556679.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(2338-2340)Tca>Aca		complement factor B							107.0	108.0	108.0					6																	31915793		2203	4300	6503	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31915793T>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.832T>A	6.37:g.31915793T>A	ENSP00000416561:p.Ser278Thr					CFB_ENST00000456570.1_Missense_Mutation_p.S780T|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.S629T|CFB_ENST00000425368.2_Missense_Mutation_p.S278T	p.S780T			P00751	CFAB_HUMAN			18	2393	+			278					B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.2338T>A	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.450823	0.84209	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.14	5.14	0.70334	von Willebrand factor, type A (3);	0.000000	0.43416	D	0.000563	D	0.99099	0.9690	M	0.88640	2.97	0.48975	D	0.999736	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.995	D	0.99683	1.0999	10	0.87932	D	0	-11.0848	12.5732	0.56349	0.0:0.0:0.0:1.0	.	780;278;278	B4E1Z4;P00751;P00751-2	.;CFAB_HUMAN;.	T	780;278;780;629	ENSP00000451848:S780T;ENSP00000416561:S278T;ENSP00000410815:S780T;ENSP00000418996:S629T	ENSP00000416561:S278T	S	+	1	0	CFB;XXbac-BPG116M5.17	32023772	0.998000	0.40836	0.995000	0.50966	0.992000	0.81027	4.421000	0.59848	2.164000	0.68074	0.459000	0.35465	TCA		0.537	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		30	42	0	0	0	0.007291	0	30	42				
RBAK-RBAKDN	100533952	broad.mit.edu	37	7	5112576	5112576	+	Missense_Mutation	SNP	G	G	C	rs140476131		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:5112576G>C	ENST00000407184.1	+	8	725	c.459G>C	c.(457-459)gaG>gaC	p.E153D	RBAKDN_ENST00000498308.1_lincRNA|RBAK-RBAKDN_ENST00000396904.2_3'UTR					RBAK-RBAKDN readthrough																		CGGAGACGGAGAGCTGCGGGC	0.657																																						ENST00000407184.1																			0				NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10						c.(457-459)gaG>gaC		RB-associated KRAB zinc finger							33.0	44.0	40.0					7																	5112576		2202	4299	6501	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5112576G>C		CCDS56463.1	7p22.1	2013-05-20				ENSG00000272968			42971	other	readthrough							Standard	NM_001204513		Approved				OTTHUMG00000186010	ENST00000407184.1:c.459G>C	7.37:g.5112576G>C	ENSP00000385560:p.Glu153Asp					RBAK_ENST00000498308.1_3'UTR|RBAK_ENST00000396904.2_3'UTR	p.E153D			Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	8	725	+		Ovarian(82;0.0175)	0						Missense_Mutation	SNP	ENST00000407184.1	37	c.459G>C		.	.	.	.	.	.	.	.	.	.	G	12.45	1.940481	0.34283	.	.	ENSG00000146587	ENST00000407184	T	0.01084	5.36	3.3	2.4	0.29515	.	.	.	.	.	T	0.01627	0.0052	.	.	.	.	.	.	P	0.50528	0.936	P	0.44477	0.451	T	0.50415	-0.8831	7	0.48119	T	0.1	.	8.8106	0.34965	0.123:0.0:0.877:0.0	.	21	A6NC62	YG007_HUMAN	D	153	ENSP00000385560:E153D	ENSP00000385560:E153D	E	+	3	2	RBAK	5079102	0.004000	0.15560	0.001000	0.08648	0.071000	0.16799	1.460000	0.35244	0.671000	0.31185	0.462000	0.41574	GAG		0.657	RBAK-RBAKDN-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000472007.1			32	99	0	0	0	0.004878	0	32	99				
GPR39	2863	broad.mit.edu	37	2	133402856	133402856	+	Missense_Mutation	SNP	T	T	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:133402856T>G	ENST00000329321.3	+	2	1508	c.1039T>G	c.(1039-1041)Tcc>Gcc	p.S347A	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	347					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTACACGGTGTCCTCGCAGCA	0.622																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1039-1041)Tcc>Gcc		G protein-coupled receptor 39							95.0	84.0	88.0					2																	133402856		2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402856T>G	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1039T>G	2.37:g.133402856T>G	ENSP00000327417:p.Ser347Ala					GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	p.S347A	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1508	+			347					B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.1039T>G	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.470428	0.63625	.	.	ENSG00000183840	ENST00000329321	T	0.37235	1.21	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.62886	-0.6759	10	0.62326	D	0.03	.	15.4493	0.75259	0.0:0.0:0.0:1.0	.	347	O43194	GPR39_HUMAN	A	347	ENSP00000327417:S347A	ENSP00000327417:S347A	S	+	1	0	GPR39	133119326	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.977000	0.70492	2.237000	0.73441	0.529000	0.55759	TCC		0.622	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			23	72	0	0	0	0.006320	0	23	72				
AP4E1	23431	broad.mit.edu	37	15	51233943	51233943	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:51233943G>C	ENST00000261842.5	+	10	1253	c.1147G>C	c.(1147-1149)Gat>Cat	p.D383H	AP4E1_ENST00000560508.1_Missense_Mutation_p.D308H	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	383					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TGAATGTTTAGATCATCCTGA	0.333																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(1147-1149)Gat>Cat		adaptor-related protein complex 4, epsilon 1 subunit							116.0	109.0	112.0					15																	51233943		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51233943G>C	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1147G>C	15.37:g.51233943G>C	ENSP00000261842:p.Asp383His					AP4E1_ENST00000560508.1_Missense_Mutation_p.D308H	p.D383H	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	10	1253	+			383					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.1147G>C	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682839	0.88542	.	.	ENSG00000081014	ENST00000261842	T	0.13420	2.59	5.96	5.96	0.96718	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.04255	-1.0965	10	0.62326	D	0.03	-15.2186	19.4101	0.94667	0.0:0.0:1.0:0.0	.	383	Q9UPM8	AP4E1_HUMAN	H	383	ENSP00000261842:D383H	ENSP00000261842:D383H	D	+	1	0	AP4E1	49021235	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.832000	0.97577	0.655000	0.94253	GAT		0.333	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			14	38	0	0	0	0.001855	0	14	38				
ZNF697	90874	broad.mit.edu	37	1	120165544	120165544	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:120165544G>A	ENST00000421812.2	-	3	1541	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		AGAAGTCGCTGAAGCGCTTCT	0.647																																						ENST00000421812.2																			0				ovary(2)	2						c.(1420-1422)ttC>ttT		zinc finger protein 697							23.0	27.0	26.0					1																	120165544		2203	4300	6503	SO:0001819	synonymous_variant	90874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:120165544G>A	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1422C>T	1.37:g.120165544G>A							p.F474F	NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	3	1541	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	474					Q96IT2	Silent	SNP	ENST00000421812.2	37	c.1422C>T	CCDS44202.1																																																																																				0.647	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		14	9	0	0	0	0.001855	0	14	9				
CFAP54	144535	broad.mit.edu	37	12	97102560	97102560	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr12:97102560C>A	ENST00000524981.4	+	48	6726	c.6703C>A	c.(6703-6705)Cca>Aca	p.P2235T				Q96N23	CL055_HUMAN		0																	CAAGAGCAAACCAAACCTACC	0.348																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(2056-2058)Cca>Aca									64.0	66.0	65.0					12																	97102560		2203	4299	6502	SO:0001583	missense	144535							g.chr12:97102560C>A																												ENST00000524981.4:c.6703C>A	12.37:g.97102560C>A	ENSP00000431759:p.Pro2235Thr						p.P686T			Q6ZTY8	CL063_HUMAN			15	2056	+			660						Missense_Mutation	SNP	ENST00000524981.4	37	c.2056C>A		.	.	.	.	.	.	.	.	.	.	C	5.597	0.294944	0.10622	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.07	-3.72	0.04411	.	3.114710	0.01001	N	0.003666	T	0.27063	0.0663	.	.	.	0.09310	N	1	B	0.16166	0.016	B	0.16722	0.016	T	0.12553	-1.0543	8	0.35671	T	0.21	11.2947	4.6222	0.12461	0.089:0.302:0.4338:0.1752	.	660	Q6ZTY8	CL063_HUMAN	T	2235;660	.	ENSP00000345466:P660T	P	+	1	0	C12orf63	95626691	0.005000	0.15991	0.000000	0.03702	0.014000	0.08584	-0.061000	0.11693	-0.574000	0.05990	-0.300000	0.09419	CCA		0.348	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			20	41	1	0	1.01871e-10	0.008871	1.07339e-10	20	41				
ANAPC5	51433	broad.mit.edu	37	12	121756175	121756175	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr12:121756175C>T	ENST00000261819.3	-	15	1919	c.1798G>A	c.(1798-1800)Gcg>Acg	p.A600T	ANAPC5_ENST00000535482.1_Missense_Mutation_p.A266T|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A488T|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A587T|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A488T	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	600					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATGGGCAGCGCGATGGTAGGG	0.552																																						ENST00000261819.3																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(1798-1800)Gcg>Acg		anaphase promoting complex subunit 5							99.0	86.0	90.0					12																	121756175		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121756175C>T	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1798G>A	12.37:g.121756175C>T	ENSP00000261819:p.Ala600Thr					ANAPC5_ENST00000535482.1_Missense_Mutation_p.A266T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A488T|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A488T|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A587T	p.A600T	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			15	1919	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		600					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.1798G>A	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	35	5.475133	0.96291	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.94019	0.8084	L	0.61218	1.895	0.80722	D	1	D;D;D	0.76494	0.996;0.996;0.999	P;P;P	0.61592	0.827;0.788;0.891	D	0.93839	0.7135	10	0.66056	D	0.02	.	18.891	0.92403	0.0:1.0:0.0:0.0	.	266;488;600	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	T	488;587;600;266;202;488	ENSP00000415061:A488T;ENSP00000439875:A587T;ENSP00000261819:A600T;ENSP00000438754:A266T;ENSP00000343787:A488T	ENSP00000261819:A600T	A	-	1	0	ANAPC5	120240558	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.019000	0.76412	2.941000	0.99782	0.655000	0.94253	GCG		0.552	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			33	47	0	0	0	0.009535	0	33	47				
JAG2	3714	broad.mit.edu	37	14	105609974	105609974	+	Splice_Site	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:105609974G>C	ENST00000331782.3	-	25	3489	c.3086C>G	c.(3085-3087)tCc>tGc	p.S1029C	JAG2_ENST00000347004.2_Splice_Site_p.S991C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1029					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGGGCTGAAGGACTGCGGCAA	0.682																																						ENST00000331782.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.e25-1		jagged 2							47.0	45.0	46.0					14																	105609974		2203	4297	6500	SO:0001630	splice_region_variant	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105609974G>C	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3085-1C>G	14.37:g.105609974G>C						JAG2_ENST00000347004.2_Splice_Site_p.S991_splice	p.S1029_splice	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	25	3489	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	1029					Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Splice_Site	SNP	ENST00000331782.3	37	c.3084_splice	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319728	0.60524	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.88277	-2.35;-2.36	4.69	4.69	0.59074	.	0.135325	0.52532	D	0.000073	D	0.94663	0.8279	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95541	0.8612	10	0.87932	D	0	.	16.5928	0.84772	0.0:0.0:1.0:0.0	.	991;1029	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	C	1029;991	ENSP00000328169:S1029C;ENSP00000328566:S991C	ENSP00000328169:S1029C	S	-	2	0	JAG2	104681019	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	6.195000	0.72088	2.164000	0.68074	0.313000	0.20887	TCC		0.682	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2		Missense_Mutation	5	60	0	0	0	0.001168	0	5	60				
UHRF1BP1	54887	broad.mit.edu	37	6	34835329	34835329	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:34835329G>A	ENST00000192788.5	+	17	3825	c.3654G>A	c.(3652-3654)gaG>gaA	p.E1218E	UHRF1BP1_ENST00000452449.2_Silent_p.E1218E	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1218							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGCAAGCAGAGGAACTGACCC	0.547																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(3652-3654)gaG>gaA		UHRF1 binding protein 1							129.0	136.0	134.0					6																	34835329		2121	4236	6357	SO:0001819	synonymous_variant	54887							g.chr6:34835329G>A	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3654G>A	6.37:g.34835329G>A						UHRF1BP1_ENST00000452449.2_Silent_p.E1218E	p.E1218E	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			17	3825	+			1218					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.3654G>A	CCDS43455.1																																																																																				0.547	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		40	89	0	0	0	0.006999	0	40	89				
IFT80	57560	broad.mit.edu	37	3	159995223	159995223	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr3:159995223G>C	ENST00000326448.7	-	18	2402	c.1970C>G	c.(1969-1971)tCt>tGt	p.S657C	IFT80_ENST00000483465.1_Missense_Mutation_p.S520C|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.S828C|IFT80_ENST00000496589.1_Missense_Mutation_p.S520C	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	657					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGATTCTTTAGATGGAAGATT	0.318																																						ENST00000326448.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(1969-1971)tCt>tGt		intraflagellar transport 80 homolog (Chlamydomonas)							72.0	71.0	72.0					3																	159995223		2203	4300	6503	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:159995223G>C	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1970C>G	3.37:g.159995223G>C	ENSP00000312778:p.Ser657Cys					IFT80_ENST00000483465.1_Missense_Mutation_p.S520C|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.S828C|IFT80_ENST00000496589.1_Missense_Mutation_p.S520C	p.S657C	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		18	2402	-			657					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.1970C>G	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189878	0.57909	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	D;D;D	0.82893	-1.66;-1.66;-1.66	5.36	5.36	0.76844	.	0.000000	0.64402	U	0.000017	D	0.82884	0.5134	M	0.67625	2.065	0.80722	D	1	B	0.26775	0.159	B	0.23852	0.049	T	0.80899	-0.1176	10	0.52906	T	0.07	-12.059	19.09	0.93223	0.0:0.0:1.0:0.0	.	657	Q9P2H3	IFT80_HUMAN	C	657;520;520	ENSP00000312778:S657C;ENSP00000418196:S520C;ENSP00000420646:S520C	ENSP00000312778:S657C	S	-	2	0	IFT80	161477917	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.201000	0.95017	2.486000	0.83907	0.655000	0.94253	TCT		0.318	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		24	61	0	0	0	0.003954	0	24	61				
VPS13C	54832	broad.mit.edu	37	15	62161820	62161820	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:62161820C>T	ENST00000261517.5	-	80	10700	c.10627G>A	c.(10627-10629)Gcc>Acc	p.A3543T	VPS13C_ENST00000249837.3_Missense_Mutation_p.A3500T|VPS13C_ENST00000395898.3_Missense_Mutation_p.A3500T|VPS13C_ENST00000395896.4_Missense_Mutation_p.A3543T	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCTTTTTGGCACCTTCAGAA	0.443																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(10627-10629)Gcc>Acc		vacuolar protein sorting 13 homolog C (S. cerevisiae)							120.0	115.0	117.0					15																	62161820		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62161820C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10627G>A	15.37:g.62161820C>T	ENSP00000261517:p.Ala3543Thr					VPS13C_ENST00000249837.3_Missense_Mutation_p.A3500T|VPS13C_ENST00000395898.3_Missense_Mutation_p.A3500T|VPS13C_ENST00000395896.4_Missense_Mutation_p.A3543T	p.A3543T	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			80	10700	-			3543						Missense_Mutation	SNP	ENST00000261517.5	37	c.10627G>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	36	5.823243	0.96989	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.61980	0.06;0.06;0.26	6.07	6.07	0.98685	Autophagy-related, C-terminal (1);	0.053642	0.64402	D	0.000001	D	0.83436	0.5254	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.996;0.998;0.999	D	0.84713	0.0735	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	3500;3543;3500;3543	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	T	3500;3543;3543;3543	ENSP00000249837:A3500T;ENSP00000261517:A3543T;ENSP00000379233:A3543T	ENSP00000249837:A3500T	A	-	1	0	VPS13C	59949112	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.811000	0.86092	2.885000	0.99019	0.655000	0.94253	GCC		0.443	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		4	132	0	0	0	0.009096	0	4	132				
CABIN1	23523	broad.mit.edu	37	22	24483645	24483645	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr22:24483645G>A	ENST00000398319.2	+	23	3889	c.3504G>A	c.(3502-3504)ctG>ctA	p.L1168L	CABIN1_ENST00000405822.2_Silent_p.L1118L|CABIN1_ENST00000263119.5_Silent_p.L1168L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1168					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAGGCGAGCTGCCCCCTGAGC	0.567																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3502-3504)ctG>ctA		calcineurin binding protein 1							84.0	79.0	80.0					22																	24483645		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24483645G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3504G>A	22.37:g.24483645G>A						CABIN1_ENST00000405822.2_Silent_p.L1118L|CABIN1_ENST00000263119.5_Silent_p.L1168L	p.L1168L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			23	3889	+			1168					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.3504G>A	CCDS13823.1																																																																																				0.567	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		54	63	0	0	0	0.014410	0	54	63				
MTRF1L	54516	broad.mit.edu	37	6	153311053	153311053	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:153311053C>G	ENST00000367233.5	-	7	1119	c.1120G>C	c.(1120-1122)Gaa>Caa	p.E374Q	MTRF1L_ENST00000367230.1_3'UTR|RP1-101K10.6_ENST00000442269.1_RNA|MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367231.5_3'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	374						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		GAAATAATTTCTACTAAAGAT	0.333																																						ENST00000367233.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(1120-1122)Gaa>Caa		mitochondrial translational release factor 1-like							55.0	59.0	58.0					6																	153311053		2203	4298	6501	SO:0001583	missense	54516					mitochondrion	translation release factor activity, codon specific	g.chr6:153311053C>G	BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.1120G>C	6.37:g.153311053C>G	ENSP00000356202:p.Glu374Gln					MTRF1L_ENST00000464135.1_5'UTR|MTRF1L_ENST00000367231.5_3'UTR|MTRF1L_ENST00000367230.1_3'UTR	p.E374Q	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)	7	1119	-		Ovarian(120;0.125)	374					B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Missense_Mutation	SNP	ENST00000367233.5	37	c.1120G>C	CCDS5243.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153137	0.78001	.	.	ENSG00000112031	ENST00000367233;ENST00000414771	T;T	0.18657	2.61;2.2	5.67	5.67	0.87782	.	0.224153	0.46758	D	0.000263	T	0.12603	0.0306	L	0.32530	0.975	0.80722	D	1	B;P	0.35383	0.428;0.498	B;B	0.38712	0.066;0.28	T	0.06075	-1.0847	10	0.29301	T	0.29	-14.7313	19.7692	0.96356	0.0:1.0:0.0:0.0	.	338;374	B4DMX1;Q9UGC7	.;RF1ML_HUMAN	Q	374;225	ENSP00000356202:E374Q;ENSP00000414383:E225Q	ENSP00000356202:E374Q	E	-	1	0	MTRF1L	153352746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.968000	0.76086	2.672000	0.90937	0.655000	0.94253	GAA		0.333	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1	NM_019041		37	80	0	0	0	0.014410	0	37	80				
HBZ	3050	broad.mit.edu	37	16	202962	202962	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:202962C>T	ENST00000252951.2	+	1	277	c.54C>T	c.(52-54)atC>atT	p.I18I		NM_005332.2	NP_005323.1	P02008	HBAZ_HUMAN	hemoglobin, zeta	18					erythrocyte maturation (GO:0043249)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GGGCCAAGATCTCCACGCAGG	0.622																																						ENST00000252951.2																			0											c.(52-54)atC>atT		hemoglobin, zeta							100.0	57.0	72.0					16																	202962		2203	4300	6503	SO:0001819	synonymous_variant	3050					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr16:202962C>T	M24173	CCDS10397.1	16p13.3	2014-05-19			ENSG00000130656	ENSG00000130656			4835	protein-coding gene	gene with protein product		142310				2649166	Standard	XM_005255287		Approved	HBZ1, HBZ-T1	uc002cft.1	P02008	OTTHUMG00000059928	ENST00000252951.2:c.54C>T	16.37:g.202962C>T							p.I18I	NM_005332.2	NP_005323.1	P02008	HBAZ_HUMAN			1	277	+		all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	18					Q6IBF6	Silent	SNP	ENST00000252951.2	37	c.54C>T	CCDS10397.1																																																																																				0.622	HBZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133205.1	NM_005332		17	36	0	0	0	0.007413	0	17	36				
RNF31	55072	broad.mit.edu	37	14	24617533	24617533	+	Nonsense_Mutation	SNP	G	G	T	rs200194901		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr14:24617533G>T	ENST00000324103.6	+	3	726	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	RNF31_ENST00000382687.3_5'Flank|RP11-468E2.4_ENST00000558468.1_5'Flank|PSME2_ENST00000560410.1_5'Flank|PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000559275.1_5'UTR|PSME2_ENST00000216802.5_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	136	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GAGCTTCCCCGAAGGGCAGGA	0.567																																						ENST00000324103.6																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39						c.(406-408)Gaa>Taa		ring finger protein 31							56.0	60.0	59.0					14																	24617533		2089	4224	6313	SO:0001587	stop_gained	55072				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:24617533G>T	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.406G>T	14.37:g.24617533G>T	ENSP00000315112:p.Glu136*					RNF31_ENST00000559275.1_5'UTR|RNF31_ENST00000557878.1_3'UTR	p.E136*	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN		GBM - Glioblastoma multiforme(265;0.00861)	3	726	+			136			Polyubiquitin-binding.		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Nonsense_Mutation	SNP	ENST00000324103.6	37	c.406G>T	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884249	0.91814	.	.	ENSG00000092098	ENST00000324103	.	.	.	5.09	5.09	0.68999	.	0.161372	0.44688	D	0.000430	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.6925	17.4268	0.87528	0.0:0.0:1.0:0.0	.	.	.	.	X	136	.	ENSP00000315112:E136X	E	+	1	0	RNF31	23687373	1.000000	0.71417	0.109000	0.21407	0.954000	0.61252	8.315000	0.89983	2.662000	0.90505	0.655000	0.94253	GAA		0.567	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999		14	38	1	0	7.93312e-07	0.002450	8.17418e-07	14	38				
TNFRSF12A	51330	broad.mit.edu	37	16	3071626	3071626	+	Silent	SNP	C	C	T	rs372932532		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:3071626C>T	ENST00000326577.4	+	3	356	c.270C>T	c.(268-270)ttC>ttT	p.F90F	TNFRSF12A_ENST00000573001.1_Silent_p.F41F|THOC6_ENST00000574549.1_5'Flank|THOC6_ENST00000253952.9_5'Flank|THOC6_ENST00000575576.1_5'Flank|TNFRSF12A_ENST00000341627.5_Silent_p.F55F|CLDN6_ENST00000396925.1_5'Flank|TNFRSF12A_ENST00000575124.1_Missense_Mutation_p.R145C|THOC6_ENST00000326266.8_5'Flank	NM_016639.2	NP_057723.1	Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A	90					angiogenesis (GO:0001525)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of angiogenesis (GO:0045765)|regulation of wound healing (GO:0061041)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				lung(1)|skin(1)	2						GCCTGACCTTCGTGCTGGGGC	0.652											OREG0023566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000575124.1																			0				lung(1)|skin(1)	2						c.(433-435)Cgt>Tgt		tumor necrosis factor receptor superfamily, member 12A		C		1,4395	2.1+/-5.4	0,1,2197	62.0	50.0	54.0		270	-7.7	0.6	16		54	0,8600		0,0,4300	no	coding-synonymous	TNFRSF12A	NM_016639.2		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		90/130	3071626	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	51330				angiogenesis|apoptosis	integral to membrane	receptor activity	g.chr16:3071626C>T	AB035480	CCDS10489.1	16p13.3	2008-02-05			ENSG00000006327	ENSG00000006327		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18152	protein-coding gene	gene with protein product		605914				10751351, 10551889	Standard	NM_016639		Approved	FN14, TweakR, CD266	uc002csv.4	Q9NP84	OTTHUMG00000129001	ENST00000326577.4:c.270C>T	16.37:g.3071626C>T			OREG0023566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	TNFRSF12A_ENST00000573001.1_Silent_p.F41F|TNFRSF12A_ENST00000341627.5_Silent_p.F55F|TNFRSF12A_ENST00000326577.4_Silent_p.F90F	p.R145C			Q9NP84	TNR12_HUMAN			2	456	+			0					D3DUA6|Q9HCS0	Missense_Mutation	SNP	ENST00000326577.4	37	c.433C>T	CCDS10489.1																																																																																				0.652	TNFRSF12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250990.1			29	41	0	0	0	0.008361	0	29	41				
DHX34	9704	broad.mit.edu	37	19	47884111	47884111	+	Silent	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:47884111C>G	ENST00000328771.4	+	15	3370	c.3021C>G	c.(3019-3021)gtC>gtG	p.V1007V		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1007					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGCTAGAAGTCCAGAACATGT	0.597																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(3019-3021)gtC>gtG		DEAH (Asp-Glu-Ala-His) box polypeptide 34							100.0	95.0	97.0					19																	47884111		2203	4300	6503	SO:0001819	synonymous_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47884111C>G	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.3021C>G	19.37:g.47884111C>G							p.V1007V	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	15	3370	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	1007					B4DMY8	Silent	SNP	ENST00000328771.4	37	c.3021C>G	CCDS12700.1																																																																																				0.597	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		30	44	0	0	0	0.008361	0	30	44				
PIAS3	10401	broad.mit.edu	37	1	145581457	145581457	+	Silent	SNP	G	G	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:145581457G>T	ENST00000393045.2	+	9	1128	c.1038G>T	c.(1036-1038)ctG>ctT	p.L346L	PIAS3_ENST00000369298.1_Silent_p.L311L	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	346					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCGCCCACCTGCAGAGCTTCG	0.507																																						ENST00000393045.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28						c.(1036-1038)ctG>ctT		protein inhibitor of activated STAT, 3							131.0	121.0	125.0					1																	145581457		2203	4300	6503	SO:0001819	synonymous_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145581457G>T	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1038G>T	1.37:g.145581457G>T						PIAS3_ENST00000369298.1_Silent_p.L311L	p.L346L	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN			9	1128	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		346					Q9UFI3	Silent	SNP	ENST00000393045.2	37	c.1038G>T	CCDS920.2																																																																																				0.507	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		90	73	1	0	2.01383e-38	0.014410	2.17727e-38	90	73				
ITCH	83737	broad.mit.edu	37	20	33001680	33001680	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr20:33001680C>T	ENST00000262650.6	+	6	606	c.470C>T	c.(469-471)tCa>tTa	p.S157L	ITCH_ENST00000374864.4_Missense_Mutation_p.S157L|ITCH_ENST00000535650.1_Missense_Mutation_p.S47L			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	157					apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ACTACATGTTCAGAAAGTAAG	0.328																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(469-471)tCa>tTa		itchy E3 ubiquitin protein ligase							99.0	93.0	95.0					20																	33001680		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33001680C>T	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.470C>T	20.37:g.33001680C>T	ENSP00000262650:p.Ser157Leu					ITCH_ENST00000262650.6_Missense_Mutation_p.S157L|ITCH_ENST00000535650.1_Missense_Mutation_p.S47L	p.S157L	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			6	683	+			157					A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.470C>T	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086242	0.55861	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.19394	2.15;2.15;2.15	5.23	5.23	0.72850	.	.	.	.	.	T	0.13586	0.0329	N	0.14661	0.345	0.39591	D	0.969583	B;B;B	0.15930	0.015;0.001;0.0	B;B;B	0.14578	0.011;0.005;0.001	T	0.09164	-1.0687	9	0.35671	T	0.21	.	12.8273	0.57726	0.0:0.9205:0.0:0.0795	.	109;157;157	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	L	157;47;157	ENSP00000363998:S157L;ENSP00000445608:S47L;ENSP00000262650:S157L	ENSP00000262650:S157L	S	+	2	0	ITCH	32465341	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.408000	0.34668	2.443000	0.82685	0.563000	0.77884	TCA		0.328	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			22	28	0	0	0	0.003954	0	22	28				
CAMSAP2	23271	broad.mit.edu	37	1	200818403	200818403	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:200818403G>C	ENST00000236925.4	+	12	2588	c.2539G>C	c.(2539-2541)Gat>Cat	p.D847H	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.D820H|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.D836H			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	847					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										GTCACTGGCAGATATAAAAGA	0.453																																						ENST00000358823.2																			0											c.(2506-2508)Gat>Cat		calmodulin regulated spectrin-associated protein family, member 2							92.0	101.0	98.0					1																	200818403		2198	4300	6498	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200818403G>C	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.2539G>C	1.37:g.200818403G>C	ENSP00000236925:p.Asp847His					CAMSAP2_ENST00000236925.4_Missense_Mutation_p.D847H|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.D820H	p.D836H	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN			11	2776	+			847					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.2506G>C		.	.	.	.	.	.	.	.	.	.	G	12.30	1.895661	0.33442	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.70282	-0.47;-0.47;-0.47	5.59	5.59	0.84812	.	0.443450	0.25450	N	0.030595	T	0.56906	0.2017	N	0.19112	0.55	0.20403	N	0.999901	P;P;P	0.39181	0.606;0.62;0.663	B;B;B	0.43251	0.333;0.235;0.413	T	0.54384	-0.8302	10	0.51188	T	0.08	-18.5482	5.712	0.17941	0.1524:0.0:0.6718:0.1758	.	820;847;836	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	H	836;820;847	ENSP00000351684:D836H;ENSP00000416800:D820H;ENSP00000236925:D847H	ENSP00000236925:D847H	D	+	1	0	CAMSAP1L1	199085026	0.998000	0.40836	0.308000	0.25141	0.969000	0.65631	4.952000	0.63618	2.630000	0.89119	0.491000	0.48974	GAT		0.453	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		48	153	0	0	0	0.014410	0	48	153				
TRIM43	129868	broad.mit.edu	37	2	96260159	96260159	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:96260159G>C	ENST00000272395.2	+	2	524	c.388G>C	c.(388-390)Gaa>Caa	p.E130Q		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	130						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						CCATCCCATCGAAGAGGCAGC	0.488																																						ENST00000272395.2																			0				breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						c.(388-390)Gaa>Caa		tripartite motif containing 43							56.0	57.0	56.0					2																	96260159		2201	4298	6499	SO:0001583	missense	129868					intracellular	zinc ion binding	g.chr2:96260159G>C	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.388G>C	2.37:g.96260159G>C	ENSP00000272395:p.Glu130Gln						p.E130Q	NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN			2	524	+			130					Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	c.388G>C	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	11.82	1.752156	0.31046	.	.	ENSG00000144015	ENST00000272395	T	0.58652	0.32	1.4	0.472	0.16758	.	.	.	.	.	T	0.48259	0.1490	L	0.43757	1.38	0.09310	N	1	P	0.48089	0.905	P	0.44946	0.465	T	0.35822	-0.9773	9	0.48119	T	0.1	-2.1116	5.778	0.18289	0.2001:0.0:0.7999:0.0	.	130	Q96BQ3	TRI43_HUMAN	Q	130	ENSP00000272395:E130Q	ENSP00000272395:E130Q	E	+	1	0	TRIM43	95623886	0.183000	0.23186	0.005000	0.12908	0.167000	0.22549	0.645000	0.24782	0.174000	0.19809	0.375000	0.23000	GAA		0.488	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		37	53	0	0	0	0.004878	0	37	53				
SKI	6497	broad.mit.edu	37	1	2160775	2160775	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:2160775C>T	ENST00000378536.4	+	1	642	c.570C>T	c.(568-570)ctC>ctT	p.L190L		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	190					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		ACGCGCTGCTCTACGGCGGCG	0.692																																					Ovarian(177;144 1678 13697 20086 27838 40755)	ENST00000378536.4																			0				central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10						c.(568-570)ctC>ctT		v-ski avian sarcoma viral oncogene homolog							6.0	7.0	7.0					1																	2160775		2085	4127	6212	SO:0001819	synonymous_variant	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2160775C>T	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.570C>T	1.37:g.2160775C>T							p.L190L	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	1	642	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		190					Q5SYT7	Silent	SNP	ENST00000378536.4	37	c.570C>T	CCDS39.1																																																																																				0.692	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		4	10	0	0	0	0.000602	0	4	10				
NLRC4	58484	broad.mit.edu	37	2	32476577	32476577	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:32476577G>A	ENST00000404025.2	-	5	844	c.356C>T	c.(355-357)cCc>cTc	p.P119L	NLRC4_ENST00000402280.1_Missense_Mutation_p.P119L|NLRC4_ENST00000360906.5_Missense_Mutation_p.P119L|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	119	Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCACCAAGGGGATAAAAGTT	0.433																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(355-357)cCc>cTc		NLR family, CARD domain containing 4							58.0	59.0	58.0					2																	32476577		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476577G>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.356C>T	2.37:g.32476577G>A	ENSP00000385090:p.Pro119Leu					NLRC4_ENST00000360906.5_Missense_Mutation_p.P119L|NLRC4_ENST00000402280.1_Missense_Mutation_p.P119L|NLRC4_ENST00000342905.6_Intron	p.P119L			Q9NPP4	NLRC4_HUMAN			5	844	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		119					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.356C>T	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884183	0.33255	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.61980	0.06;0.06;0.06	3.46	2.56	0.30785	.	0.000000	0.47852	D	0.000215	T	0.63522	0.2518	L	0.29908	0.895	0.32831	D	0.504008	D	0.89917	1.0	D	0.80764	0.994	T	0.66384	-0.5937	9	0.25106	T	0.35	-10.9216	10.2901	0.43590	0.1109:0.0:0.8891:0.0	.	119	Q9NPP4	NLRC4_HUMAN	L	119	ENSP00000354159:P119L;ENSP00000385428:P119L;ENSP00000385090:P119L	ENSP00000354159:P119L	P	-	2	0	NLRC4	32330081	1.000000	0.71417	0.959000	0.39883	0.267000	0.26476	2.774000	0.47694	1.939000	0.56221	0.543000	0.68304	CCC		0.433	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		27	40	0	0	0	0.004656	0	27	40				
FAM83B	222584	broad.mit.edu	37	6	54792428	54792428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:54792428C>A	ENST00000306858.7	+	4	848	c.732C>A	c.(730-732)taC>taA	p.Y244*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	244										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACGGTTCTTACAGGTAAGATC	0.299																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(730-732)taC>taA		family with sequence similarity 83, member B							125.0	130.0	128.0					6																	54792428		2203	4300	6503	SO:0001587	stop_gained	222584							g.chr6:54792428C>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.732C>A	6.37:g.54792428C>A	ENSP00000304078:p.Tyr244*						p.Y244*	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			4	848	+	Lung NSC(77;0.0178)|Renal(3;0.122)		244					Q2M1P3|Q96DQ2	Nonsense_Mutation	SNP	ENST00000306858.7	37	c.732C>A	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	37	6.063901	0.97251	.	.	ENSG00000168143	ENST00000306858	.	.	.	5.95	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.3655	12.6207	0.56601	0.0:0.87:0.0:0.13	.	.	.	.	X	244	.	ENSP00000304078:Y244X	Y	+	3	2	FAM83B	54900387	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.068000	0.50018	2.824000	0.97209	0.655000	0.94253	TAC		0.299	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		44	83	1	0	2.74695e-27	0.014410	2.96131e-27	44	83				
TRMT13	54482	broad.mit.edu	37	1	100613702	100613702	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:100613702G>T	ENST00000370141.2	+	10	1076	c.1070G>T	c.(1069-1071)gGa>gTa	p.G357V		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	357					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										CTAGGCCTTGGAGCAGTGGAA	0.458																																						ENST00000370141.2																			0											c.(1069-1071)gGa>gTa		tRNA methyltransferase 13 homolog (S. cerevisiae)							107.0	99.0	102.0					1																	100613702		2203	4300	6503	SO:0001583	missense	54482							g.chr1:100613702G>T	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.1070G>T	1.37:g.100613702G>T	ENSP00000359160:p.Gly357Val						p.G357V	NM_019083.2	NP_061956.2					10	1076	+								Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.1070G>T	CCDS765.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163939	0.78226	.	.	ENSG00000122435	ENST00000370141	T	0.44083	0.93	5.75	5.75	0.90469	Methyltransferase TRM13 (1);	0.052232	0.85682	D	0.000000	T	0.58906	0.2155	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.54207	-0.8328	10	0.40728	T	0.16	-13.7967	19.9525	0.97208	0.0:0.0:1.0:0.0	.	357	Q9NUP7	TRM13_HUMAN	V	357	ENSP00000359160:G357V	ENSP00000359160:G357V	G	+	2	0	CCDC76	100386290	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	6.908000	0.75730	2.719000	0.93026	0.655000	0.94253	GGA		0.458	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		19	39	1	0	1.96292e-10	0.010504	2.06245e-10	19	39				
SULF1	23213	broad.mit.edu	37	8	70539481	70539481	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:70539481G>C	ENST00000260128.4	+	16	2604	c.1887G>C	c.(1885-1887)gaG>gaC	p.E629D	SULF1_ENST00000419716.3_Missense_Mutation_p.E629D|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.E629D|SULF1_ENST00000458141.2_Missense_Mutation_p.E629D	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	629					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TCCATTGTGAGAGAGAACTGT	0.388																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1885-1887)gaG>gaC		sulfatase 1							156.0	140.0	146.0					8																	70539481		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70539481G>C	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1887G>C	8.37:g.70539481G>C	ENSP00000260128:p.Glu629Asp					SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.E629D|SULF1_ENST00000458141.2_Missense_Mutation_p.E629D|SULF1_ENST00000402687.4_Missense_Mutation_p.E629D	p.E629D	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		16	2604	+	Breast(64;0.0654)		629					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.1887G>C	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	9.836	1.189726	0.21954	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11	6.04	4.24	0.50183	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.97470	0.9172	L	0.28740	0.885	0.48288	D	0.99962	D	0.67145	0.996	D	0.67900	0.954	D	0.95744	0.8786	10	0.02654	T	1	.	13.0261	0.58817	0.1315:0.0:0.8685:0.0	.	629	Q8IWU6	SULF1_HUMAN	D	629	ENSP00000403040:E629D;ENSP00000260128:E629D;ENSP00000385704:E629D;ENSP00000390315:E629D	ENSP00000260128:E629D	E	+	3	2	SULF1	70702035	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.184000	0.42575	1.571000	0.49722	0.563000	0.77884	GAG		0.388	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		8	64	0	0	0	0.006214	0	8	64				
SOGA1	140710	broad.mit.edu	37	20	35444081	35444081	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr20:35444081C>T	ENST00000357779.3	-	5	1376	c.1050G>A	c.(1048-1050)aaG>aaA	p.K350K	SOGA1_ENST00000456801.2_Silent_p.K191K|SOGA1_ENST00000237536.4_Silent_p.K588K|SOGA1_ENST00000279034.6_Silent_p.K350K			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	350					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						ACTGCAGCTTCTTGACCTTGC	0.647																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(1762-1764)aaG>aaA		suppressor of glucose, autophagy associated 1							18.0	20.0	19.0					20																	35444081		2186	4288	6474	SO:0001819	synonymous_variant	140710							g.chr20:35444081C>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1050G>A	20.37:g.35444081C>T						SOGA1_ENST00000357779.3_Silent_p.K350K|SOGA1_ENST00000279034.5_Silent_p.K350K|SOGA1_ENST00000456801.2_Silent_p.K191K	p.K588K	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			5	2105	-			350					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37	c.1764G>A																																																																																					0.647	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		6	9	0	0	0	0.001168	0	6	9				
PROK1	84432	broad.mit.edu	37	1	110998955	110998955	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:110998955G>C	ENST00000271331.3	+	3	317	c.300G>C	c.(298-300)ttG>ttC	p.L100F	RP11-470L19.5_ENST00000481350.2_RNA	NM_032414.2	NP_115790.1	P58294	PROK1_HUMAN	prokineticin 1	100					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|regulation of angiogenesis (GO:0045765)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCATGGACTTGAAGAACATCA	0.537																																						ENST00000271331.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9						c.(298-300)ttG>ttC		prokineticin 1							90.0	86.0	88.0					1																	110998955		2203	4300	6503	SO:0001583	missense	84432				angiogenesis|positive regulation of cell division	extracellular region	growth factor activity	g.chr1:110998955G>C	AF333024	CCDS825.1	1p21	2013-02-28			ENSG00000143125	ENSG00000143125		"""Endogenous ligands"""	18454	protein-coding gene	gene with protein product	"""black mamba toxin-related protein"", ""mambakine"""	606233				11259612	Standard	NM_032414		Approved	PK1, PRK1, EGVEGF	uc001dzs.3	P58294	OTTHUMG00000011569	ENST00000271331.3:c.300G>C	1.37:g.110998955G>C	ENSP00000271331:p.Leu100Phe						p.L100F	NM_032414.2	NP_115790.1	P58294	PROK1_HUMAN		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	317	+		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	100					Q5VWD4|Q8TC69	Missense_Mutation	SNP	ENST00000271331.3	37	c.300G>C	CCDS825.1	.	.	.	.	.	.	.	.	.	.	G	1.229	-0.624653	0.03636	.	.	ENSG00000143125	ENST00000271331	D	0.85258	-1.96	5.51	3.59	0.41128	.	0.128128	0.52532	D	0.000067	T	0.42291	0.1196	N	0.05608	-0.01	0.37861	D	0.929728	B	0.15141	0.012	B	0.12156	0.007	T	0.45760	-0.9239	10	0.06625	T	0.88	.	3.6094	0.08054	0.0968:0.2517:0.518:0.1336	.	100	P58294	PROK1_HUMAN	F	100	ENSP00000271331:L100F	ENSP00000271331:L100F	L	+	3	2	PROK1	110800478	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	1.221000	0.32503	1.326000	0.45319	0.585000	0.79938	TTG		0.537	PROK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031969.1	NM_032414		9	94	0	0	0	0.004482	0	9	94				
ARMC4	55130	broad.mit.edu	37	10	28151529	28151529	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr10:28151529G>T	ENST00000305242.5	-	18	2725	c.2633C>A	c.(2632-2634)tCc>tAc	p.S878Y	ARMC4_ENST00000545014.1_Missense_Mutation_p.S403Y|ARMC4_ENST00000537576.1_Missense_Mutation_p.S570Y	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	878					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACCAACAAAGGAACGAACCAT	0.348																																						ENST00000305242.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						c.(2632-2634)tCc>tAc		armadillo repeat containing 4							85.0	80.0	82.0					10																	28151529		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28151529G>T	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2633C>A	10.37:g.28151529G>T	ENSP00000306410:p.Ser878Tyr					ARMC4_ENST00000545014.1_Missense_Mutation_p.S403Y|ARMC4_ENST00000537576.1_Missense_Mutation_p.S570Y	p.S878Y	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN			18	2725	-			878					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.2633C>A	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.304775	0.81247	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;D	0.96856	-4.15;-4.15;-4.15	5.75	4.85	0.62838	Armadillo-like helical (1);Armadillo-type fold (1);	0.105803	0.64402	D	0.000002	D	0.97698	0.9245	M	0.76002	2.32	0.80722	D	1	D;D	0.71674	0.985;0.998	P;D	0.64687	0.827;0.928	D	0.98166	1.0449	10	0.66056	D	0.02	-9.3686	16.9052	0.86124	0.0:0.128:0.872:0.0	.	403;878	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	Y	570;878;403	ENSP00000443208:S570Y;ENSP00000306410:S878Y;ENSP00000441076:S403Y	ENSP00000306410:S878Y	S	-	2	0	ARMC4	28191535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.735000	0.74806	1.405000	0.46838	0.650000	0.86243	TCC		0.348	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		15	17	1	0	4.7546e-09	0.004007	4.9263e-09	15	17				
TRBV7-7	28591	broad.mit.edu	37	7	142120047	142120047	+	RNA	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:142120047G>C	ENST00000390377.1	-	0	119									T cell receptor beta variable 7-7																		GATCACACCTGAGAGTTACAT	0.478																																						ENST00000390377.1																			0																				61.0	59.0	59.0					7																	142120047		1880	4109	5989			28591							g.chr7:142120047G>C	L36092		7q34	2012-02-07			ENSG00000253291	ENSG00000253291		"""T cell receptors / TRB locus"""	12241	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV77, TCRBV6S6A2T, TCRBV7S7			OTTHUMG00000158872		7.37:g.142120047G>C														0	119	-									RNA	SNP	ENST00000390377.1	37																																																																																						0.478	TRBV7-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352480.1	NG_001333		21	40	0	0	0	0.012319	0	21	40				
WDR81	124997	broad.mit.edu	37	17	1636020	1636020	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:1636020G>A	ENST00000409644.1	+	6	4384	c.4384G>A	c.(4384-4386)Gat>Aat	p.D1462N	WDR81_ENST00000419248.1_Missense_Mutation_p.D235N|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Missense_Mutation_p.D411N|WDR81_ENST00000437219.2_Missense_Mutation_p.D259N|WDR81_ENST00000545662.1_Missense_Mutation_p.D93N|WDR81_ENST00000446363.1_Missense_Mutation_p.D101N	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1462					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTCTTCTCTGATGGGCAGCA	0.642																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(4384-4386)Gat>Aat		WD repeat domain 81							50.0	41.0	44.0					17																	1636020		2203	4300	6503	SO:0001583	missense	124997							g.chr17:1636020G>A	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4384G>A	17.37:g.1636020G>A	ENSP00000386609:p.Asp1462Asn					RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Missense_Mutation_p.D101N|WDR81_ENST00000437219.2_Missense_Mutation_p.D259N|WDR81_ENST00000419248.1_Missense_Mutation_p.D235N|WDR81_ENST00000309182.5_Missense_Mutation_p.D411N|WDR81_ENST00000545662.1_Missense_Mutation_p.D93N	p.D1462N	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	6	4384	+			235					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	c.4384G>A	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514433	0.85389	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000418841;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T;T	0.59083	2.25;2.07;0.42;2.27;0.45;0.36;0.29	5.97	5.01	0.66863	.	0.105002	0.64402	N	0.000003	T	0.64204	0.2577	L	0.40543	1.245	0.58432	D	0.999999	B;P;D;B	0.76494	0.264;0.799;0.999;0.144	B;B;D;B	0.64144	0.03;0.343;0.922;0.036	T	0.62872	-0.6762	10	0.37606	T	0.19	.	12.3488	0.55136	0.077:0.0:0.923:0.0	.	93;259;589;411	B7Z6V3;B7Z579;Q8TEL1;Q562E7	.;.;.;WDR81_HUMAN	N	259;411;101;235;47;1462;213;93	ENSP00000391074:D259N;ENSP00000312074:D411N;ENSP00000401560:D101N;ENSP00000407845:D235N;ENSP00000395198:D47N;ENSP00000386609:D1462N;ENSP00000442726:D93N	ENSP00000312074:D411N	D	+	1	0	WDR81	1582770	1.000000	0.71417	0.913000	0.36048	0.987000	0.75469	5.876000	0.69667	1.540000	0.49301	0.655000	0.94253	GAT		0.642	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		14	26	0	0	0	0.003163	0	14	26				
CD101	9398	broad.mit.edu	37	1	117554213	117554213	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:117554213C>G	ENST00000256652.4	+	3	524	c.466C>G	c.(466-468)Ctc>Gtc	p.L156V	CD101_ENST00000369470.1_Missense_Mutation_p.L156V	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	156	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTCTCAGACTCTCGGTAAGGA	0.512																																						ENST00000256652.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(466-468)Ctc>Gtc		CD101 molecule							103.0	95.0	97.0					1																	117554213		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117554213C>G	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.466C>G	1.37:g.117554213C>G	ENSP00000256652:p.Leu156Val					CD101_ENST00000369470.1_Missense_Mutation_p.L156V	p.L156V	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN			3	524	+			156			Ig-like C2-type 2.		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.466C>G	CCDS891.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959969	0.74016	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.63580	-0.05;-0.05	5.43	4.52	0.55395	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.324875	0.26103	N	0.026331	T	0.59197	0.2176	M	0.77406	2.37	0.42855	D	0.994092	P	0.52692	0.955	P	0.49192	0.602	T	0.64588	-0.6372	10	0.48119	T	0.1	-10.6045	12.1164	0.53868	0.0:0.9162:0.0:0.0838	.	156	Q93033	IGSF2_HUMAN	V	156	ENSP00000256652:L156V;ENSP00000358482:L156V	ENSP00000256652:L156V	L	+	1	0	CD101	117355736	0.778000	0.28640	0.914000	0.36105	0.946000	0.59487	1.424000	0.34848	1.308000	0.44962	0.650000	0.86243	CTC		0.512	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		39	73	0	0	0	0.008740	0	39	73				
CNGB3	54714	broad.mit.edu	37	8	87645092	87645092	+	Missense_Mutation	SNP	C	C	T	rs147876778	byFrequency	TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:87645092C>T	ENST00000320005.5	-	11	1255	c.1208G>A	c.(1207-1209)cGa>cAa	p.R403Q		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	403			R -> Q (in macular degeneration; dbSNP:rs147876778). {ECO:0000269|PubMed:15712225}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R403P(1)|p.R403L(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AATTAAAGTTCGAACTGCCCA	0.328													C|||	35	0.00698882	0.0	0.0	5008	,	,		16807	0.004		0.002	False		,,,				2504	0.0297					ENST00000320005.5																			2	Substitution - Missense(2)	p.R403P(1)|p.R403L(1)	large_intestine(1)|lung(1)	NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80	GRCh37	CM043918	CNGB3	M	rs147876778	c.(1207-1209)cGa>cAa		cyclic nucleotide gated channel beta 3		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	63.0	63.0	63.0		1208	5.1	1.0	8	dbSNP_134	63	17,8583	13.3+/-46.6	0,17,4283	yes	missense	CNGB3	NM_019098.4	43	0,18,6485	TT,TC,CC		0.1977,0.0227,0.1384	probably-damaging	403/810	87645092	18,12988	2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87645092C>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1208G>A	8.37:g.87645092C>T	ENSP00000316605:p.Arg403Gln						p.R403Q	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			11	1255	-			403		R -> Q (in macular degeneration).			C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.1208G>A	CCDS6244.1	3	0.0013736263736263737	0	0.0	0	0.0	2	0.0034965034965034965	1	0.0013192612137203166	C	22.5	4.292628	0.80914	2.27E-4	0.001977	ENSG00000170289	ENST00000320005	D	0.97209	-4.29	5.12	5.12	0.69794	.	0.270404	0.30043	N	0.010558	D	0.97087	0.9048	L	0.48986	1.54	0.47511	D	0.999443	D;D	0.59767	0.986;0.975	P;P	0.55112	0.725;0.769	D	0.96667	0.9493	10	0.40728	T	0.16	.	18.9236	0.92536	0.0:1.0:0.0:0.0	.	403;403	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	Q	403	ENSP00000316605:R403Q	ENSP00000316605:R403Q	R	-	2	0	CNGB3	87714208	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.175000	0.50855	2.543000	0.85770	0.591000	0.81541	CGA		0.328	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		18	42	0	0	0	0.007413	0	18	42				
KRT27	342574	broad.mit.edu	37	17	38935781	38935781	+	Silent	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:38935781C>T	ENST00000301656.3	-	5	985	c.945G>A	c.(943-945)gaG>gaA	p.E315E	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				GAAGTTCAATCTCAAGGGTTT	0.453																																						ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(943-945)gaG>gaA		keratin 27							72.0	65.0	68.0					17																	38935781		2203	4300	6503	SO:0001819	synonymous_variant	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38935781C>T	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.945G>A	17.37:g.38935781C>T							p.E315E	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			5	985	-		Breast(137;0.000812)	315			Coil 2.|Rod.			Silent	SNP	ENST00000301656.3	37	c.945G>A	CCDS11375.1																																																																																				0.453	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		25	255	0	0	0	0.008361	0	25	255				
KCNC2	3747	broad.mit.edu	37	12	75601539	75601539	+	Silent	SNP	G	G	A			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr12:75601539G>A	ENST00000549446.1	-	2	905	c.225C>T	c.(223-225)ggC>ggT	p.G75G	KCNC2_ENST00000540018.1_Silent_p.G75G|KCNC2_ENST00000350228.2_Silent_p.G75G|KCNC2_ENST00000393288.2_Silent_p.G75G|KCNC2_ENST00000341669.3_Silent_p.G75G|KCNC2_ENST00000298972.1_Silent_p.G75G|KCNC2_ENST00000550433.1_Silent_p.G75G|KCNC2_ENST00000548513.1_Silent_p.G75G	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	75	Gly/Pro-rich (insert).				action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CGAAGCAGCCGCCTGGCCCGg	0.766																																						ENST00000549446.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(223-225)ggC>ggT		potassium voltage-gated channel, Shaw-related subfamily, member 2							3.0	5.0	4.0					12																	75601539		1754	3448	5202	SO:0001819	synonymous_variant	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75601539G>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.225C>T	12.37:g.75601539G>A						KCNC2_ENST00000393288.2_Silent_p.G75G|KCNC2_ENST00000540018.1_Silent_p.G75G|KCNC2_ENST00000341669.3_Silent_p.G75G|KCNC2_ENST00000298972.1_Silent_p.G75G|KCNC2_ENST00000350228.2_Silent_p.G75G|KCNC2_ENST00000550433.1_Silent_p.G75G|KCNC2_ENST00000548513.1_Silent_p.G75G	p.G75G	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN			2	905	-			75			Gly/Pro-rich (insert).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	c.225C>T	CCDS9007.1																																																																																				0.766	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		7	1	0	0	0	0.003080	0	7	1				
APBB1	322	broad.mit.edu	37	11	6422239	6422239	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr11:6422239A>G	ENST00000609360.1	-	12	1751	c.1652T>C	c.(1651-1653)gTa>gCa	p.V551A	APBB1_ENST00000389906.2_Missense_Mutation_p.V551A|APBB1_ENST00000608655.1_Missense_Mutation_p.V331A|APBB1_ENST00000609331.1_Missense_Mutation_p.V316A|APBB1_ENST00000299402.6_Missense_Mutation_p.V549A|APBB1_ENST00000530885.1_Missense_Mutation_p.V329A|APBB1_ENST00000608394.1_Missense_Mutation_p.V292A|APBB1_ENST00000311051.3_Missense_Mutation_p.V549A|APBB1_ENST00000608645.1_Missense_Mutation_p.V292A|APBB1_ENST00000608704.1_Missense_Mutation_p.V292A|APBB1_ENST00000529519.1_Missense_Mutation_p.V76A	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	551	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGCAACAGGTACATTCCCCAG	0.478																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(1651-1653)gTa>gCa		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							280.0	281.0	281.0					11																	6422239		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6422239A>G	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1652T>C	11.37:g.6422239A>G	ENSP00000477213:p.Val551Ala					APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000299402.6_Missense_Mutation_p.V549A|APBB1_ENST00000311051.3_Missense_Mutation_p.V549A|APBB1_ENST00000530885.1_Missense_Mutation_p.V329A	p.V551A	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	11	1751	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	551			PID 2.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1652T>C		.	.	.	.	.	.	.	.	.	.	A	16.40	3.113365	0.56398	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	4.88	4.88	0.63580	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.169851	0.39146	N	0.001442	T	0.34861	0.0912	L	0.53249	1.67	0.39698	D	0.971146	P;P;P	0.48294	0.908;0.707;0.877	P;B;P	0.51055	0.645;0.416;0.657	T	0.13282	-1.0515	10	0.45353	T	0.12	-19.2792	12.4843	0.55863	1.0:0.0:0.0:0.0	.	551;329;549	O00213;B7Z2Y0;O00213-2	APBB1_HUMAN;.;.	A	549;549;551;400;292;316;329	ENSP00000299402:V549A;ENSP00000311912:V549A;ENSP00000374556:V551A;ENSP00000433338:V329A	ENSP00000299402:V549A	V	-	2	0	APBB1	6378815	0.138000	0.22547	1.000000	0.80357	0.989000	0.77384	3.733000	0.55029	2.051000	0.60960	0.528000	0.53228	GTA		0.478	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		9	216	0	0	0	0.008291	0	9	216				
ABCB11	8647	broad.mit.edu	37	2	169792772	169792772	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:169792772G>C	ENST00000263817.6	-	22	2906	c.2782C>G	c.(2782-2784)Cga>Gga	p.R928G		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	928	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGCTTATCTCGAGAGGCAAAT	0.488																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57	GRCh37	CM072812	ABCB11	M		c.(2782-2784)Cga>Gga		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						115.0	115.0	115.0					2																	169792772		2021	4200	6221	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169792772G>C	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2782C>G	2.37:g.169792772G>C	ENSP00000263817:p.Arg928Gly						p.R928G	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			22	2906	-			928			ABC transmembrane type-1 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.2782C>G	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	G	7.645	0.681769	0.14907	.	.	ENSG00000073734	ENST00000263817	D	0.90069	-2.61	5.37	1.08	0.20341	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.387375	0.31784	N	0.007079	T	0.77922	0.4203	N	0.12637	0.245	0.09310	N	1	B;B	0.24258	0.0;0.1	B;B	0.34536	0.007;0.185	T	0.69359	-0.5166	10	0.54805	T	0.06	.	6.1217	0.20157	0.069:0.113:0.5636:0.2544	.	370;928	B4DZQ8;O95342	.;ABCBB_HUMAN	G	928	ENSP00000263817:R928G	ENSP00000263817:R928G	R	-	1	2	ABCB11	169501018	0.953000	0.32496	0.846000	0.33378	0.032000	0.12392	2.088000	0.41663	1.211000	0.43351	-0.397000	0.06425	CGA		0.488	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		18	29	0	0	0	0.006122	0	18	29				
ABCA7	10347	broad.mit.edu	37	19	1055346	1055346	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:1055346C>T	ENST00000263094.6	+	30	4432	c.4201C>T	c.(4201-4203)Cag>Tag	p.Q1401*	ABCA7_ENST00000433129.1_Nonsense_Mutation_p.Q1401*|ABCA7_ENST00000435683.2_Nonsense_Mutation_p.Q1263*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1401					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGTGCGCCAGGGGTGAGC	0.637																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(4201-4203)Cag>Tag		ATP-binding cassette, sub-family A (ABC1), member 7							16.0	12.0	14.0					19																	1055346		2019	3985	6004	SO:0001587	stop_gained	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1055346C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4201C>T	19.37:g.1055346C>T	ENSP00000263094:p.Gln1401*					ABCA7_ENST00000435683.2_Nonsense_Mutation_p.Q1263*|ABCA7_ENST00000433129.1_Nonsense_Mutation_p.Q1401*	p.Q1401*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	30	4432	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1401					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Nonsense_Mutation	SNP	ENST00000263094.6	37	c.4201C>T	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	40	8.047253	0.98627	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	.	.	.	3.68	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1409	0.53996	0.0:1.0:0.0:0.0	.	.	.	.	X	1401	.	ENSP00000263094:Q1401X	Q	+	1	0	ABCA7	1006346	0.881000	0.30235	0.989000	0.46669	0.227000	0.25037	1.944000	0.40263	1.606000	0.50161	0.462000	0.41574	CAG		0.637	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		5	18	0	0	0	0.001168	0	5	18				
FBXO4	26272	broad.mit.edu	37	5	41934106	41934106	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr5:41934106C>G	ENST00000281623.3	+	4	761	c.705C>G	c.(703-705)atC>atG	p.I235M	FBXO4_ENST00000509134.1_Missense_Mutation_p.I235M|FBXO4_ENST00000296812.2_Missense_Mutation_p.I235M	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	235					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				ACATTCTAATCTTATATTCAA	0.328																																						ENST00000296812.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27						c.(703-705)atC>atG		F-box protein 4							92.0	94.0	93.0					5																	41934106		2203	4300	6503	SO:0001583	missense	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41934106C>G	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.705C>G	5.37:g.41934106C>G	ENSP00000281623:p.Ile235Met					FBXO4_ENST00000509134.1_Missense_Mutation_p.I235M|FBXO4_ENST00000281623.3_Missense_Mutation_p.I235M	p.I235M	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN			4	761	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	235					Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	c.705C>G	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292216	0.23564	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	T;T;T	0.51071	0.72;0.72;0.72	5.12	2.71	0.32032	.	0.156588	0.56097	D	0.000035	T	0.30978	0.0782	N	0.22421	0.69	0.25918	N	0.983151	P;P;P	0.49961	0.855;0.93;0.911	B;B;B	0.42214	0.187;0.38;0.346	T	0.14117	-1.0484	10	0.54805	T	0.06	-15.9023	7.4139	0.27034	0.6426:0.2829:0.0745:0.0	.	235;235;235	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	M	235	ENSP00000296812:I235M;ENSP00000281623:I235M;ENSP00000421749:I235M	ENSP00000281623:I235M	I	+	3	3	FBXO4	41969863	0.972000	0.33761	0.873000	0.34254	0.728000	0.41692	1.936000	0.40183	0.903000	0.36546	-0.262000	0.10625	ATC		0.328	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			16	69	0	0	0	0.004990	0	16	69				
FAM83A	84985	broad.mit.edu	37	8	124219708	124219708	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:124219708A>C	ENST00000518448.1	+	5	3099	c.1085A>C	c.(1084-1086)cAc>cCc	p.H362P	FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000318462.6_Missense_Mutation_p.H362P|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000546351.1_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	362	Pro-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCGGCCCCACACCCGCCTCCA	0.766																																						ENST00000518448.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(1084-1086)cAc>cCc		family with sequence similarity 83, member A							5.0	7.0	6.0					8																	124219708		1904	3885	5789	SO:0001583	missense	84985							g.chr8:124219708A>C	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.1085A>C	8.37:g.124219708A>C	ENSP00000428876:p.His362Pro					FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000318462.6_Missense_Mutation_p.H362P	p.H362P			Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		5	3099	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		362			Pro-rich.		Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	c.1085A>C	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	A	5.552	0.286635	0.10513	.	.	ENSG00000147689	ENST00000518448;ENST00000318462	T;T	0.08008	3.14;3.14	4.97	-0.905	0.10527	.	1.114660	0.06760	N	0.781560	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45026	-0.9289	10	0.26408	T	0.33	-11.7612	2.1492	0.03795	0.3763:0.3547:0.146:0.123	.	362	Q86UY5	FA83A_HUMAN	P	362	ENSP00000428876:H362P;ENSP00000323034:H362P	ENSP00000323034:H362P	H	+	2	0	FAM83A	124288889	0.000000	0.05858	0.415000	0.26534	0.195000	0.23768	-0.129000	0.10515	-0.061000	0.13110	0.358000	0.22013	CAC		0.766	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		5	13	0	0	0	0.004482	0	5	13				
DUS2	54920	broad.mit.edu	37	16	68109341	68109341	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr16:68109341C>T	ENST00000565263.1	+	14	1510	c.1016C>T	c.(1015-1017)tCa>tTa	p.S339L	RP11-67A1.2_ENST00000548144.1_RNA|DUS2_ENST00000432752.1_Missense_Mutation_p.S304L|DUS2_ENST00000358896.6_Missense_Mutation_p.S339L	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	339					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										GCCAAGACTTCAGAGCAGACA	0.567																																						ENST00000565263.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(1015-1017)tCa>tTa									66.0	60.0	62.0					16																	68109341		2198	4300	6498	SO:0001583	missense	54920				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr16:68109341C>T		CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.1016C>T	16.37:g.68109341C>T	ENSP00000455229:p.Ser339Leu					DUS2L_ENST00000432752.1_Missense_Mutation_p.S304L|DUS2L_ENST00000358896.6_Missense_Mutation_p.S339L	p.S339L	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	14	1510	+		Ovarian(137;0.192)	339					A8K3G3|Q4H4D9	Missense_Mutation	SNP	ENST00000565263.1	37	c.1016C>T	CCDS10859.1	.	.	.	.	.	.	.	.	.	.	C	6.877	0.531269	0.13127	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	T;T	0.30714	1.52;1.52	5.64	3.59	0.41128	.	0.604415	0.18147	N	0.150212	T	0.13243	0.0321	N	0.08118	0	0.21416	N	0.999693	B;B	0.22276	0.067;0.0	B;B	0.23852	0.049;0.002	T	0.10314	-1.0635	10	0.26408	T	0.33	-41.487	4.6981	0.12813	0.2602:0.5684:0.0:0.1714	.	304;339	E7EUN9;Q9NX74	.;DUS2L_HUMAN	L	339;304	ENSP00000351769:S339L;ENSP00000409498:S304L	ENSP00000351769:S339L	S	+	2	0	DUS2L	66666842	0.994000	0.37717	0.992000	0.48379	0.010000	0.07245	1.803000	0.38863	2.833000	0.97629	0.650000	0.86243	TCA		0.567	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		20	32	0	0	0	0.012319	0	20	32				
FLG2	388698	broad.mit.edu	37	1	152327320	152327320	+	Nonsense_Mutation	SNP	G	G	C	rs370804010		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:152327320G>C	ENST00000388718.5	-	3	3014	c.2942C>G	c.(2941-2943)tCa>tGa	p.S981*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	981	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S981*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGATTTTCCTGAGCCTGACTC	0.493																																						ENST00000388718.5																			1	Substitution - Nonsense(1)	p.S981*(1)	lung(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2941-2943)tCa>tGa		filaggrin family member 2							257.0	259.0	258.0					1																	152327320		2203	4300	6503	SO:0001587	stop_gained	388698						calcium ion binding|structural molecule activity	g.chr1:152327320G>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2942C>G	1.37:g.152327320G>C	ENSP00000373370:p.Ser981*					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S981*	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3014	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		981			Ser-rich.		Q9H4U1	Nonsense_Mutation	SNP	ENST00000388718.5	37	c.2942C>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	37	6.259627	0.97421	.	.	ENSG00000143520	ENST00000388718	.	.	.	3.96	3.05	0.35203	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	6.1134	7.5738	0.27924	0.1186:0.0:0.8814:0.0	.	.	.	.	X	981	.	ENSP00000373370:S981X	S	-	2	0	FLG2	150593944	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.800000	0.27042	0.883000	0.36040	-0.254000	0.11334	TCA		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		12	592	0	0	0	0.010729	0	12	592				
HACE1	57531	broad.mit.edu	37	6	105281023	105281023	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr6:105281023C>T	ENST00000262903.4	-	6	704	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	RP11-809N15.2_ENST00000422930.2_RNA|HACE1_ENST00000369125.2_Missense_Mutation_p.R143Q	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	143					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TAGTTCTGTCCGCCCATTCAC	0.423																																						ENST00000262903.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(427-429)cGg>cAg		HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1							173.0	140.0	151.0					6																	105281023		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105281023C>T	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.428G>A	6.37:g.105281023C>T	ENSP00000262903:p.Arg143Gln					HACE1_ENST00000369125.2_Missense_Mutation_p.R143Q|RP11-809N15.2_ENST00000422930.1_RNA	p.R143Q	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	6	704	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	143					A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.428G>A	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	34	5.342433	0.95783	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000524020	T;T;T	0.71341	-0.56;-0.56;-0.12	5.09	5.09	0.68999	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.70227	0.968;0.968	T	0.77324	-0.2630	10	0.72032	D	0.01	.	18.4916	0.90849	0.0:1.0:0.0:0.0	.	143;143	E9PGP0;Q8IYU2	.;HACE1_HUMAN	Q	143;143;109	ENSP00000262903:R143Q;ENSP00000358121:R143Q;ENSP00000427901:R109Q	ENSP00000262903:R143Q	R	-	2	0	HACE1	105387716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.423000	0.80229	2.366000	0.80165	0.650000	0.86243	CGG		0.423	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		25	75	0	0	0	0.006320	0	25	75				
INPP5B	3633	broad.mit.edu	37	1	38339682	38339682	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:38339682C>T	ENST00000373026.1	-	17	2174	c.2174G>A	c.(2173-2175)aGa>aAa	p.R725K	INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373024.3_Missense_Mutation_p.R645K|INPP5B_ENST00000373023.2_Missense_Mutation_p.R725K|INPP5B_ENST00000373027.1_Missense_Mutation_p.R481K			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	725	ASH. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GAGGAAGCCTCTGCTGGGGTT	0.438																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(2173-2175)aGa>aAa		inositol polyphosphate-5-phosphatase, 75kDa							40.0	43.0	42.0					1																	38339682		1906	4118	6024	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38339682C>T	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.2174G>A	1.37:g.38339682C>T	ENSP00000362117:p.Arg725Lys					INPP5B_ENST00000373024.3_Missense_Mutation_p.R645K|INPP5B_ENST00000373026.1_Missense_Mutation_p.R725K|INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373027.1_Missense_Mutation_p.R481K	p.R725K	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN			18	2267	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	725					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.2174G>A		.	.	.	.	.	.	.	.	.	.	C	7.556	0.663711	0.14710	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	D;D;D;D	0.92699	-3.09;-2.91;-2.91;-2.92	5.35	-2.12	0.07165	.	0.286587	0.42053	N	0.000776	T	0.72795	0.3505	N	0.02247	-0.625	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.63773	-0.6561	10	0.02654	T	1	.	10.7181	0.46023	0.0:0.2439:0.0:0.7561	.	725;645	P32019;P32019-2	I5P2_HUMAN;.	K	481;725;725;725;645	ENSP00000362118:R481K;ENSP00000362114:R725K;ENSP00000362117:R725K;ENSP00000362115:R645K	ENSP00000362114:R725K	R	-	2	0	INPP5B	38112269	0.328000	0.24687	0.801000	0.32222	0.995000	0.86356	0.844000	0.27654	-0.231000	0.09825	0.591000	0.81541	AGA		0.438	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		18	18	0	0	0	0.008871	0	18	18				
SLC39A14	23516	broad.mit.edu	37	8	22262337	22262337	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:22262337C>G	ENST00000381237.1	+	2	233	c.114C>G	c.(112-114)atC>atG	p.I38M	SLC39A14_ENST00000359741.5_Missense_Mutation_p.I38M|SLC39A14_ENST00000240095.6_Missense_Mutation_p.I38M|SLC39A14_ENST00000289952.5_Missense_Mutation_p.I38M	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	38					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CACCAGCTATCAGCGCTGCCT	0.602																																						ENST00000359741.5																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12						c.(112-114)atC>atG		solute carrier family 39 (zinc transporter), member 14							95.0	93.0	94.0					8																	22262337		2203	4300	6503	SO:0001583	missense	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22262337C>G	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.114C>G	8.37:g.22262337C>G	ENSP00000370635:p.Ile38Met					SLC39A14_ENST00000240095.6_Missense_Mutation_p.I38M|SLC39A14_ENST00000381237.1_Missense_Mutation_p.I38M|SLC39A14_ENST00000289952.5_Missense_Mutation_p.I38M	p.I38M	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	2	289	+			38					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	ENST00000381237.1	37	c.114C>G	CCDS47823.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307436	0.23821	.	.	ENSG00000104635	ENST00000359741;ENST00000520644;ENST00000240095;ENST00000381237;ENST00000289952;ENST00000524285;ENST00000520832;ENST00000519960;ENST00000522881;ENST00000517552	T;T;T;T;T;T;T;T;T;T	0.66638	-0.2;0.73;-0.22;-0.2;-0.2;0.73;0.26;0.91;0.91;0.91	5.93	5.93	0.95920	.	0.628406	0.16278	N	0.221474	T	0.59362	0.2188	L	0.51422	1.61	0.33796	D	0.626066	P;B;B	0.37985	0.613;0.34;0.092	B;B;B	0.30646	0.118;0.034;0.034	T	0.70339	-0.4899	10	0.41790	T	0.15	-10.433	14.6954	0.69118	0.0:0.8549:0.1451:0.0	.	38;38;38	Q15043-2;Q15043;B6EU88	.;S39AE_HUMAN;.	M	38	ENSP00000352779:I38M;ENSP00000428789:I38M;ENSP00000240095:I38M;ENSP00000370635:I38M;ENSP00000289952:I38M;ENSP00000430315:I38M;ENSP00000428905:I38M;ENSP00000430629:I38M;ENSP00000429328:I38M;ENSP00000430564:I38M	ENSP00000240095:I38M	I	+	3	3	SLC39A14	22318282	1.000000	0.71417	0.942000	0.38095	0.025000	0.11179	3.457000	0.53007	2.815000	0.96918	0.561000	0.74099	ATC		0.602	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		3	76	0	0	0	0.009096	0	3	76				
HDGF	3068	broad.mit.edu	37	1	156713644	156713648	+	Frame_Shift_Del	DEL	TGCCT	TGCCT	-			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:156713644_156713648delTGCCT	ENST00000357325.5	-	5	826_830	c.512_516delAGGCA	c.(511-516)gaggcafs	p.EA171fs	HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000416666.2_Frame_Shift_Del_p.EA139fs|HDGF_ENST00000537739.1_Frame_Shift_Del_p.EA171fs|HDGF_ENST00000368209.5_Frame_Shift_Del_p.EA164fs|MRPL24_ENST00000361531.2_5'Flank|HDGF_ENST00000368206.5_Frame_Shift_Del_p.EA187fs|MRPL24_ENST00000368211.4_5'Flank	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	171	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CAGGGTTTTCTGCCTCCTTGGGACG	0.605																																						ENST00000357325.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(511-516)gfs		hepatoma-derived growth factor																																				SO:0001589	frameshift_variant	3068				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	g.chr1:156713644_156713648delTGCCT	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.512_516delAGGCA	1.37:g.156713644_156713648delTGCCT	ENSP00000349878:p.Glu171fs					HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000537739.1_Frame_Shift_Del_p.EA171fs|HDGF_ENST00000416666.2_Frame_Shift_Del_p.EA139fs|HDGF_ENST00000368206.5_Frame_Shift_Del_p.EA187fs|HDGF_ENST00000368209.5_Frame_Shift_Del_p.EA164fs	p.EA171fs	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN		Colorectal(1306;0.018)	5	826_830	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)	171			Glu-rich.		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Frame_Shift_Del	DEL	ENST00000357325.5	37	c.512_516delAGGCA	CCDS1156.1																																																																																				0.605	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		20	60						20	60	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235964315	235964327	+	Frame_Shift_Del	DEL	TTCCCCTTGAGTG	TTCCCCTTGAGTG	-			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr1:235964315_235964327delTTCCCCTTGAGTG	ENST00000389794.3	-	9	3957_3969	c.3783_3795delCACTCAAGGGGAA	c.(3781-3795)ctcactcaaggggaafs	p.LTQGE1261fs	LYST_ENST00000389793.2_Frame_Shift_Del_p.LTQGE1261fs|LYST_ENST00000536965.1_Frame_Shift_Del_p.LTQGE1261fs			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1261					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GATAAATTATTTCCCCTTGAGTGAGGTTTTCGA	0.366																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(3781-3795)ctfs		lysosomal trafficking regulator																																				SO:0001589	frameshift_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235964315_235964327delTTCCCCTTGAGTG	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.3783_3795delCACTCAAGGGGAA	1.37:g.235964315_235964327delTTCCCCTTGAGTG	ENSP00000374444:p.Leu1261fs					LYST_ENST00000389793.2_Frame_Shift_Del_p.LTQGE1261fs|LYST_ENST00000536965.1_Frame_Shift_Del_p.LTQGE1261fs	p.LTQGE1261fs			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		9	3957_3969	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1261					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Frame_Shift_Del	DEL	ENST00000389794.3	37	c.3783_3795delCACTCAAGGGGAA	CCDS31062.1																																																																																				0.366	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			20	139						20	139	---	---	---	---
CD8B	926	broad.mit.edu	37	2	87085532	87085533	+	Frame_Shift_Ins	INS	-	-	T	rs137953763|rs368650240	byFrequency	TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:87085532_87085533insT	ENST00000390655.6	-	2	108_109	c.50_51insA	c.(49-51)catfs	p.H17fs	CD8B_ENST00000331469.2_Frame_Shift_Ins_p.H17fs|CD8B_ENST00000349455.3_Frame_Shift_Ins_p.H17fs|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393761.2_Frame_Shift_Ins_p.H17fs|CD8B_ENST00000393759.2_Frame_Shift_Ins_p.H17fs	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	17					immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CTGAGTTGCCATGGAGAACTAG	0.49																																						ENST00000390655.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						c.(49-51)cggfs		CD8b molecule																																				SO:0001589	frameshift_variant	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87085532_87085533insT		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.51dupA	2.37:g.87085533_87085533dupT	ENSP00000375070:p.His17fs					CD8B_ENST00000349455.3_Frame_Shift_Ins_p.R17fs|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Frame_Shift_Ins_p.R17fs|CD8B_ENST00000393759.2_Frame_Shift_Ins_p.R17fs|CD8B_ENST00000393761.2_Frame_Shift_Ins_p.R17fs	p.R17fs	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN			2	108_109	-			17					P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Frame_Shift_Ins	INS	ENST00000390655.6	37	c.50_51insA	CCDS1997.1																																																																																				0.490	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		22	39						22	39	---	---	---	---
RNPEPL1	57140	broad.mit.edu	37	2	241517130	241517131	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr2:241517130_241517131delAG	ENST00000270357.4	+	11	1899_1900	c.1306_1307delAG	c.(1306-1308)agafs	p.R436fs		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	436					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CAACCTGCGCAGAGCCATCCAG	0.663																																						ENST00000270357.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13						c.(1306-1308)afs		arginyl aminopeptidase (aminopeptidase B)-like 1																																				SO:0001589	frameshift_variant	57140				leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr2:241517130_241517131delAG			2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.1306_1307delAG	2.37:g.241517132_241517133delAG	ENSP00000270357:p.Arg436fs						p.R436fs	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)	11	1899_1900	+		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)	436					Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Frame_Shift_Del	DEL	ENST00000270357.4	37	c.1306_1307delAG																																																																																					0.663	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4	NM_018226		7	7						7	7	---	---	---	---
IQUB	154865	broad.mit.edu	37	7	123109372	123109372	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr7:123109372delT	ENST00000466202.1	-	9	2053	c.1477delA	c.(1477-1479)atcfs	p.I493fs	IQUB_ENST00000324698.6_Frame_Shift_Del_p.I493fs|IQUB_ENST00000434450.1_Frame_Shift_Del_p.I493fs	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	493					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CTGGCTCTGATGGTGAACTGC	0.358																																						ENST00000466202.1																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(1477-1479)tcfs		IQ motif and ubiquitin domain containing							148.0	137.0	141.0					7																	123109372		2203	4300	6503	SO:0001589	frameshift_variant	154865							g.chr7:123109372delT	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1477delA	7.37:g.123109372delT	ENSP00000417769:p.Ile493fs					IQUB_ENST00000434450.1_Frame_Shift_Del_p.I493fs|IQUB_ENST00000324698.6_Frame_Shift_Del_p.I493fs	p.I493fs			Q8NA54	IQUB_HUMAN			9	2053	-			493					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Frame_Shift_Del	DEL	ENST00000466202.1	37	c.1477delA	CCDS5787.1																																																																																				0.358	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		31	134						31	134	---	---	---	---
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:59750796_59750798delCTT	ENST00000361421.1	-	5	986_988	c.766_768delAAG	c.(766-768)aagdel	p.K256del		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	256						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(766-768)del		thymocyte selection-associated high mobility group box																																				SO:0001651	inframe_deletion	9760					nucleus	DNA binding	g.chr8:59750796_59750798delCTT		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.766_768delAAG	8.37:g.59750805_59750807delCTT	ENSP00000354842:p.Lys256del						p.K256del	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			5	986_988	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	256					Q96AV5	In_Frame_Del	DEL	ENST00000361421.1	37	c.766_768delAAG	CCDS34897.1																																																																																				0.453	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		8	420						8	420	---	---	---	---
MYBL1	4603	broad.mit.edu	37	8	67488453	67488453	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr8:67488453delT	ENST00000522677.3	-	10	1669	c.1259delA	c.(1258-1260)aacfs	p.N420fs	MYBL1_ENST00000524176.2_Frame_Shift_Del_p.N420fs|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	420	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			ATTACAAGTGTTTTTTTTCCC	0.403																																						ENST00000522677.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25						c.(1258-1260)acfs		v-myb avian myeloblastosis viral oncogene homolog-like 1							210.0	194.0	199.0					8																	67488453		1900	4122	6022	SO:0001589	frameshift_variant	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67488453delT	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1259delA	8.37:g.67488453delT	ENSP00000429633:p.Asn420fs					MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Frame_Shift_Del_p.N420fs	p.N420fs	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		10	1669	-			420			Negative regulatory domain (By similarity).		E7EW29|Q495F9	Frame_Shift_Del	DEL	ENST00000522677.3	37	c.1259delA	CCDS47867.1																																																																																				0.403	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		7	442						7	442	---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(214-216)gtfs		transmembrane 9 superfamily member 3							146.0	145.0	145.0					10																	98336475		2203	4300	6503	SO:0001589	frameshift_variant	56889					integral to membrane	binding	g.chr10:98336475delT	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.214delA	10.37:g.98336475delT	ENSP00000360184:p.Ser72fs						p.S72fs	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	430	-		Colorectal(252;0.158)	72					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Del	DEL	ENST00000371142.4	37	c.214delA	CCDS7450.1																																																																																				0.363	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		7	163						7	163	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20782960	20782977	+	In_Frame_Del	DEL	AACTGCCAAACAAAGCCT	AACTGCCAAACAAAGCCT	-	rs202137018		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr12:20782960_20782977delAACTGCCAAACAAAGCCT	ENST00000359062.3	+	6	1699_1716	c.1659_1676delAACTGCCAAACAAAGCCT	c.(1657-1677)acaactgccaaacaaagccta>aca	p.TAKQSL554del	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	554					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGCTGACACAACTGCCAAACAAAGCCTAGGTTCTCAC	0.5																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(1657-1677)aca>ac		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)																																			SO:0001651	inframe_deletion	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20782960_20782977delAACTGCCAAACAAAGCCT		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1659_1676delAACTGCCAAACAAAGCCT	12.37:g.20782960_20782977delAACTGCCAAACAAAGCCT	ENSP00000351957:p.Thr554_Leu559del					PDE3A_ENST00000544307.1_3'UTR	p.TTAKQSL553del	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			6	1699_1716	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	553					O60865|Q13348|Q17RD1	In_Frame_Del	DEL	ENST00000359062.3	37	c.1659_1676delAACTGCCAAACAAAGCCT	CCDS31754.1																																																																																				0.500	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			9	144						9	144	---	---	---	---
WHAMMP3	339005	broad.mit.edu	37	15	23205231	23205231	+	RNA	DEL	G	G	-	rs375922183		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr15:23205231delG	ENST00000400153.2	-	0	656					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		GCTCAAGTCAGGACAGTGTAA	0.333																																						ENST00000400153.2																			0																																																			339005							g.chr15:23205231delG	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205231delG								NR_003521.1						0	656	-								Q1A5X8|Q52M16|Q52M18	RNA	DEL	ENST00000400153.2	37																																																																																						0.333	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		4	5						4	5	---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:8415820_8415822delTTC	ENST00000269243.4	-	22	2944_2946	c.2806_2808delGAA	c.(2806-2808)gaadel	p.E936del	MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000360416.3_In_Frame_Del_p.E967del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.35																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(2899-2901)del		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8415820_8415822delTTC	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2806_2808delGAA	17.37:g.8415829_8415831delTTC	ENSP00000269243:p.Glu936del					MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del	p.E967del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			24	3037_3039	-			936					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.2899_2901delGAA	CCDS11144.1																																																																																				0.350	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			7	100						7	100	---	---	---	---
AKAP1	8165	broad.mit.edu	37	17	55183460	55183460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr17:55183460delA	ENST00000337714.3	+	2	868	c.635delA	c.(634-636)gaafs	p.E212fs	AKAP1_ENST00000314126.3_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000571629.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000539273.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000572557.1_Frame_Shift_Del_p.E212fs	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	212					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GTGTTGGGGGAAAAGGTGCTT	0.587																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(634-636)gafs		A kinase (PRKA) anchor protein 1							92.0	91.0	91.0					17																	55183460		2203	4300	6503	SO:0001589	frameshift_variant	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55183460delA	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.635delA	17.37:g.55183460delA	ENSP00000337736:p.Glu212fs					AKAP1_ENST00000571629.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000539273.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000572557.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000314126.3_Frame_Shift_Del_p.E212fs	p.E212fs	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			2	868	+	Breast(9;5.46e-08)		212					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Frame_Shift_Del	DEL	ENST00000337714.3	37	c.635delA	CCDS11594.1																																																																																				0.587	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			7	432						7	432	---	---	---	---
GLTSCR2	29997	broad.mit.edu	37	19	48258620	48258620	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:48258620delG	ENST00000246802.5	+	9	1107	c.1069delG	c.(1069-1071)gcgfs	p.A357fs	CTD-2571L23.6_ENST00000602048.1_RNA|SNORD23_ENST00000408876.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	357						intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		ACAGCAGGCCGCGTTGCGGGC	0.721																																					Colon(58;613 1041 9473 10089 15241)	ENST00000246802.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(1069-1071)cgfs		glioma tumor suppressor candidate region gene 2							2.0	3.0	3.0					19																	48258620		1730	3602	5332	SO:0001589	frameshift_variant	29997					nucleolus		g.chr19:48258620delG	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.1069delG	19.37:g.48258620delG	ENSP00000246802:p.Ala357fs					GLTSCR2_ENST00000598681.1_3'UTR	p.A357fs	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	9	1107	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	357					Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Frame_Shift_Del	DEL	ENST00000246802.5	37	c.1069delG	CCDS12705.1																																																																																				0.721	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		2	4						2	4	---	---	---	---
SCAF1	58506	broad.mit.edu	37	19	50156573	50156573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr19:50156573delC	ENST00000360565.3	+	7	3051	c.2927delC	c.(2926-2928)accfs	p.T976fs		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	976					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GTTCCTAGCACCCCGCCCCCC	0.682																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(2926-2928)acfs		SR-related CTD-associated factor 1							6.0	5.0	5.0					19																	50156573		2024	3982	6006	SO:0001589	frameshift_variant	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50156573delC	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.2927delC	19.37:g.50156573delC	ENSP00000353769:p.Thr976fs						p.T976fs	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	3051	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	976					Q7Z5V7|Q8WVA1|Q9NR59	Frame_Shift_Del	DEL	ENST00000360565.3	37	c.2927delC	CCDS33074.1																																																																																				0.682	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		2	4						2	4	---	---	---	---
DLGAP4	22839	broad.mit.edu	37	20	35155318	35155330	+	Frame_Shift_Del	DEL	GAGGCCCGCAAGA	GAGGCCCGCAAGA	-	rs372820817|rs370567365		TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chr20:35155318_35155330delGAGGCCCGCAAGA	ENST00000373907.2	+	12	3062_3074	c.2863_2875delGAGGCCCGCAAGA	c.(2863-2877)gaggcccgcaagagafs	p.EARKR955fs	DLGAP4_ENST00000339266.5_Frame_Shift_Del_p.EARKR955fs|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000401952.2_Frame_Shift_Del_p.EARKR952fs|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000433238.1_RNA|DLGAP4_ENST00000373913.3_Frame_Shift_Del_p.EARKR952fs|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000340491.4_Frame_Shift_Del_p.EARKR416fs			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	955					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCAGCGCCAGGAGGCCCGCAAGAGACTCCTGGC	0.638																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2854-2868)gafs		discs, large (Drosophila) homolog-associated protein 4																																				SO:0001589	frameshift_variant	22839				cell-cell signaling	membrane	protein binding	g.chr20:35155318_35155330delGAGGCCCGCAAGA	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2863_2875delGAGGCCCGCAAGA	20.37:g.35155318_35155330delGAGGCCCGCAAGA	ENSP00000363014:p.Glu955fs					DLGAP4_ENST00000339266.5_Frame_Shift_Del_p.EARKR955fs|DLGAP4_ENST00000340491.4_Frame_Shift_Del_p.EARKR416fs|DLGAP4_ENST00000401952.2_Frame_Shift_Del_p.EARKR952fs|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000373907.2_Frame_Shift_Del_p.EARKR955fs|DLGAP4_ENST00000475894.1_3'UTR|RP5-977B1.7_ENST00000439595.1_RNA	p.EARKR952fs			Q9Y2H0	DLGP4_HUMAN			13	3334_3346	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	955					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Frame_Shift_Del	DEL	ENST00000373907.2	37	c.2854_2866delGAGGCCCGCAAGA																																																																																					0.638	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		23	45						23	45	---	---	---	---
ATXN3L	92552	broad.mit.edu	37	X	13337468	13337469	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BB-4227-01A-01D-1870-08	TCGA-BB-4227-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1b315bb-773b-4fd0-88ec-d11044996adc	cca35864-76be-4095-afb4-eb4ca15b142c	g.chrX:13337468_13337469insT	ENST00000380622.2	-	1	1049_1050	c.585_586insA	c.(583-588)aaattafs	p.L196fs	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	196					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGTTTTACTAATTTTTTTCCAT	0.381																																						ENST00000380622.2																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(583-588)aatagtfs		ataxin 3-like																																				SO:0001589	frameshift_variant	92552				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	g.chrX:13337468_13337469insT		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.586dupA	X.37:g.13337475_13337475dupT	ENSP00000369996:p.Leu196fs					GS1-600G8.3_ENST00000431486.1_RNA	p.NS195fs	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN			1	1049_1050	-			195					B2RNY8	Frame_Shift_Ins	INS	ENST00000380622.2	37	c.585_586insA	CCDS48080.1																																																																																				0.381	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		158	70						158	70	---	---	---	---
