#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
CLEC1A	51267	broad.mit.edu	37	12	10241822	10241822	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:10241822C>T	ENST00000315330.4	-	2	178		c.e2-1		CLEC1A_ENST00000457018.2_Intron|CLEC1A_ENST00000420265.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GCCCTGTGCTCTGCAGGGAAC	0.517																																						ENST00000315330.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.e2-1		C-type lectin domain family 1, member A							43.0	38.0	40.0					12																	10241822		2202	4300	6502	SO:0001630	splice_region_variant	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10241822C>T	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.116-1G>A	12.37:g.10241822C>T						CLEC1A_ENST00000457018.2_Intron|CLEC1A_ENST00000420265.2_Intron		NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN			2	178	-								Q8IUW7|Q9NZH3	Splice_Site	SNP	ENST00000315330.4	37		CCDS8612.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301733	0.40694	.	.	ENSG00000150048	ENST00000315330;ENST00000414501	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9535	0.58413	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLEC1A	10133089	0.903000	0.30736	0.160000	0.22671	0.223000	0.24884	3.449000	0.52950	2.499000	0.84300	0.655000	0.94253	.		0.517	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511	Intron	7	33	0	0	0	1	0	7	33				
BCKDHA	593	broad.mit.edu	37	19	41925110	41925110	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:41925110G>C	ENST00000269980.2	+	5	923	c.555G>C	c.(553-555)ttG>ttC	p.L185F	BCKDHA_ENST00000457836.2_Missense_Mutation_p.L163F|BCKDHA_ENST00000535632.1_3'UTR|BCKDHA_ENST00000595085.1_Missense_Mutation_p.L219F|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.L219F	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	185					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						TCAGTGACTTGGGCAAGGGGC	0.582																																						ENST00000269980.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						c.(553-555)ttG>ttC		branched chain keto acid dehydrogenase E1, alpha polypeptide							150.0	113.0	126.0					19																	41925110		2203	4300	6503	SO:0001583	missense	593				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	g.chr19:41925110G>C	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.555G>C	19.37:g.41925110G>C	ENSP00000269980:p.Leu185Phe					BCKDHA_ENST00000535632.1_3'UTR|BCKDHA_ENST00000457836.2_Missense_Mutation_p.L163F|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.L219F|BCKDHA_ENST00000595085.1_Missense_Mutation_p.L219F	p.L185F	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN			5	923	+			185					B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.555G>C	CCDS12581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.189|0.189	-1.055086|-1.055086	0.01965|0.01965	.|.	.|.	ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098;ENSG00000248098|ENSG00000248098	ENST00000540732;ENST00000269980;ENST00000542943;ENST00000457836;ENST00000378196|ENST00000541315	D;D;D;D|.	0.99176|.	-5.52;-5.52;-5.52;-5.52|.	5.51|5.51	0.319|0.319	0.15873|0.15873	Dehydrogenase, E1 component (1);|.	0.456511|.	0.23062|.	N|.	0.052376|.	T|T	0.38268|0.38268	0.1034|0.1034	L|L	0.37697|0.37697	1.125|1.125	0.36998|0.36998	D|D	0.895101|0.895101	B;B;B;B|.	0.09022|.	0.002;0.0;0.0;0.0|.	B;B;B;B|.	0.15484|.	0.013;0.003;0.006;0.002|.	T|T	0.31280|0.31280	-0.9949|-0.9949	10|5	0.10111|.	T|.	0.7|.	-0.6992|-0.6992	0.8316|0.8316	0.01132|0.01132	0.1804:0.2697:0.2747:0.2753|0.1804:0.2697:0.2747:0.2753	.|.	163;185;185;219|.	B4DP47;Q59EI3;P12694;F5H5P2|.	.;.;ODBA_HUMAN;.|.	F|S	219;185;156;163;185|152	ENSP00000443246:L219F;ENSP00000269980:L185F;ENSP00000440345:L156F;ENSP00000416000:L163F|.	ENSP00000269980:L185F|.	L|W	+|+	3|2	2|0	BCKDHA;CTC-435M10.3|BCKDHA	46616950|46616950	0.244000|0.244000	0.23889|0.23889	0.675000|0.675000	0.29917|0.29917	0.201000|0.201000	0.24016|0.24016	-0.533000|-0.533000	0.06157|0.06157	0.153000|0.153000	0.19213|0.19213	-0.169000|-0.169000	0.13324|0.13324	TTG|TGG		0.582	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		9	49	0	0	0	1	0	9	49				
CACNA2D2	9254	broad.mit.edu	37	3	50413408	50413408	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:50413408C>T	ENST00000479441.1	-	19	1758	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K	CACNA2D2_ENST00000395083.1_Missense_Mutation_p.E587K|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.E587K|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.E587K|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.E587K|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.E518K|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.E587K|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.E587K			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	587					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	tccttgttctcatcctctAGC	0.587																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(1759-1761)Gag>Aag		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)						93.0	82.0	86.0					3																	50413408		2203	4300	6503	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50413408C>T	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.1759G>A	3.37:g.50413408C>T	ENSP00000418081:p.Glu587Lys					CACNA2D2_ENST00000479441.1_Missense_Mutation_p.E587K|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.E587K|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.E587K|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.E587K|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.E518K|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.E587K|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.E587K	p.E587K			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	19	1932	-			587					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.1759G>A	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617559	0.66787	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	4.25	4.25	0.50352	Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region (1);	1.070790	0.07184	N	0.854485	T	0.74137	0.3677	L	0.34521	1.04	0.40571	D	0.981304	B;B	0.24258	0.1;0.082	B;B	0.29077	0.098;0.059	T	0.59952	-0.7357	10	0.42905	T	0.14	-10.3634	16.2604	0.82536	0.0:1.0:0.0:0.0	.	587;587	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	K	587;587;587;518;587;587;587;587	ENSP00000407393:E587K;ENSP00000404631:E587K;ENSP00000266039:E587K;ENSP00000354228:E518K;ENSP00000390526:E587K;ENSP00000378519:E587K;ENSP00000390329:E587K;ENSP00000418081:E587K	ENSP00000266039:E587K	E	-	1	0	CACNA2D2	50388412	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.473000	0.60196	1.902000	0.55061	0.462000	0.41574	GAG		0.587	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		12	64	0	0	0	1	0	12	64				
ARMCX5	64860	broad.mit.edu	37	X	101857799	101857799	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:101857799C>G	ENST00000604957.1	+	1	3352	c.730C>G	c.(730-732)Cca>Gca	p.P244A	ARMCX5_ENST00000541409.1_Missense_Mutation_p.P244A|ARMCX5_ENST00000536530.1_Missense_Mutation_p.P244A|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_Missense_Mutation_p.P244A|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.P244A|ARMCX5_ENST00000372742.1_Missense_Mutation_p.P244A	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	244										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						ATCCTTGCCTCCAGAAGGAAA	0.468																																						ENST00000604957.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(730-732)Cca>Gca		armadillo repeat containing, X-linked 5							107.0	96.0	100.0					X																	101857799		2203	4300	6503	SO:0001583	missense	64860						binding	g.chrX:101857799C>G		CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"""Armadillo repeat containing"""	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.730C>G	X.37:g.101857799C>G	ENSP00000474720:p.Pro244Ala					ARMCX5_ENST00000536530.1_Missense_Mutation_p.P244A|ARMCX5_ENST00000541409.1_Missense_Mutation_p.P244A|ARMCX5_ENST00000537008.1_Missense_Mutation_p.P244A|ARMCX5_ENST00000246174.2_Missense_Mutation_p.P244A|ARMCX5_ENST00000372742.1_Missense_Mutation_p.P244A|RP4-769N13.7_ENST00000602441.1_RNA|RP4-769N13.6_ENST00000476910.1_RNA	p.P244A	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN			1	3352	+			244					B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Missense_Mutation	SNP	ENST00000604957.1	37	c.730C>G	CCDS14500.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579610	0.28180	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	3.9	3.0	0.34707	.	0.000000	0.41823	D	0.000815	T	0.10121	0.0248	N	0.19112	0.55	0.29548	N	0.851609	P	0.43094	0.799	B	0.43194	0.411	T	0.08597	-1.0714	10	0.09338	T	0.73	-5.4653	8.4031	0.32599	0.0:0.7654:0.2346:0.0	.	244	Q6P1M9	ARMX5_HUMAN	A	244	ENSP00000246174:P244A;ENSP00000439001:P244A;ENSP00000446385:P244A;ENSP00000445851:P244A;ENSP00000361827:P244A	ENSP00000246174:P244A	P	+	1	0	ARMCX5	101744455	0.819000	0.29175	0.995000	0.50966	0.703000	0.40648	0.065000	0.14466	0.985000	0.38656	0.600000	0.82982	CCA		0.468	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469659.1	NM_022838		11	64	0	0	0	1	0	11	64				
CCM2L	140706	broad.mit.edu	37	20	30602817	30602817	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr20:30602817C>T	ENST00000300415.8	+	2	154	c.141C>T	c.(139-141)ccC>ccT	p.P47P	CCM2L_ENST00000262659.8_Silent_p.P47P			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	47								p.P47P(2)									TTTATCCCCCCGACTACCTCA	0.642																																						ENST00000300415.8																			2	Substitution - coding silent(2)	p.P47P(2)	lung(2)								c.(139-141)ccC>ccT		cerebral cavernous malformation 2-like							77.0	72.0	74.0					20																	30602817		2203	4300	6503	SO:0001819	synonymous_variant	140706							g.chr20:30602817C>T	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.141C>T	20.37:g.30602817C>T						CCM2L_ENST00000262659.8_Silent_p.P47P	p.P47P							2	154	+								Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Silent	SNP	ENST00000300415.8	37	c.141C>T																																																																																					0.642	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		28	135	0	0	0	1	0	28	135				
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48744557	48744557	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr20:48744557T>A	ENST00000341698.2	-	5	645	c.646A>T	c.(646-648)Atc>Ttc	p.I216F	TMEM189_ENST00000371652.4_Missense_Mutation_p.I216F|TMEM189_ENST00000371656.2_Missense_Mutation_p.I141F|TMEM189_ENST00000557021.1_Missense_Mutation_p.I216F|TMEM189_ENST00000371650.5_Missense_Mutation_p.I213F	NM_001257399.1	NP_001244328.1			TMEM189-UBE2V1 readthrough											breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			ACGTGGTGGATGCGATGGTGT	0.607																																						ENST00000557021.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8						c.(646-648)Atc>Ttc		transmembrane protein 189							255.0	150.0	185.0					20																	48744557		2203	4300	6503	SO:0001583	missense	387521							g.chr20:48744557T>A	U39361	CCDS13424.1	20q13.13	2011-05-31			ENSG00000124208	ENSG00000124208			33521	other	readthrough						11076860	Standard	NM_199203		Approved	Kua-UEV, CROC-1B	uc002xvf.3		OTTHUMG00000033085	ENST00000341698.2:c.646A>T	20.37:g.48744557T>A	ENSP00000344166:p.Ile216Phe					TMEM189_ENST00000371656.2_Missense_Mutation_p.I141F|TMEM189_ENST00000371650.5_Missense_Mutation_p.I213F|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.I216F|TMEM189_ENST00000371652.4_Missense_Mutation_p.I216F	p.I216F	NM_199203.2	NP_954673.1			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)		5	806	-									Missense_Mutation	SNP	ENST00000341698.2	37	c.646A>T	CCDS13424.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.197883	0.79015	.	.	ENSG00000124208;ENSG00000240849;ENSG00000240849;ENSG00000240849;ENSG00000240849	ENST00000341698;ENST00000557021;ENST00000371650;ENST00000371656;ENST00000371652	T;T;T;T	0.54479	0.57;0.57;0.84;0.84	5.23	4.13	0.48395	Kua-ubiquitin conjugating enzyme hybrid, localisation (1);	0.162448	0.28072	U	0.016717	T	0.71476	0.3344	M	0.87547	2.89	0.34565	D	0.712759	P;D;D;P	0.53151	0.928;0.958;0.958;0.899	P;D;D;P	0.65323	0.904;0.934;0.934;0.49	T	0.78615	-0.2135	10	0.34782	T	0.22	-6.708	10.7491	0.46198	0.0:0.0751:0.0:0.9249	.	141;213;216;216	Q5TGE2;Q5TGE1;A5PLL7;G3V2F7	.;.;TM189_HUMAN;.	F	216;216;213;141;216	ENSP00000344166:I216F;ENSP00000450635:I216F;ENSP00000360713:I213F;ENSP00000360715:I216F	ENSP00000360713:I213F	I	-	1	0	TMEM189-UBE2V1;TMEM189	48177964	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.783000	0.62403	0.817000	0.34445	0.460000	0.39030	ATC		0.607	TMEM189-UBE2V1-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000080532.5			14	24	0	0	0	1	0	14	24				
MIS18BP1	55320	broad.mit.edu	37	14	45711432	45711432	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:45711432C>G	ENST00000310806.4	-	4	1406	c.948G>C	c.(946-948)caG>caC	p.Q316H	MIS18BP1_ENST00000492652.1_5'UTR	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	316					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CCTTAACTTTCTGTTGCGAAG	0.403																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(946-948)caG>caC		MIS18 binding protein 1							88.0	86.0	87.0					14																	45711432		2203	4300	6503	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45711432C>G	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.948G>C	14.37:g.45711432C>G	ENSP00000309790:p.Gln316His					MIS18BP1_ENST00000492652.1_5'UTR	p.Q316H	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			4	1406	-			316					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.948G>C	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	C	7.809	0.715314	0.15306	.	.	ENSG00000129534	ENST00000310806	T	0.19394	2.15	4.97	-3.65	0.04502	.	0.995483	0.08149	N	0.990350	T	0.16385	0.0394	L	0.27053	0.805	0.09310	N	1	P	0.39964	0.697	B	0.41691	0.364	T	0.34700	-0.9818	10	0.72032	D	0.01	-0.269	10.9644	0.47403	0.0:0.2782:0.0:0.7218	.	316	Q6P0N0	M18BP_HUMAN	H	316	ENSP00000309790:Q316H	ENSP00000309790:Q316H	Q	-	3	2	MIS18BP1	44781182	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.254000	0.08781	-0.678000	0.05224	0.591000	0.81541	CAG		0.403	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			8	36	0	0	0	1	0	8	36				
RAC1	5879	broad.mit.edu	37	7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000356142.4_Missense_Mutation_p.A178V|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	GAGTGCTCGGCGCTCACACAG	0.567																																						ENST00000348035.4																			2	Substitution - Missense(2)	p.A159V(1)|p.A178V(1)	endometrium(2)	cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(475-477)gCg>gTg		ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	Pravastatin(DB00175)|Simvastatin(DB00641)						133.0	110.0	118.0					7																	6441974		2203	4300	6503	SO:0001583	missense	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6441974C>T	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.476C>T	7.37:g.6441974C>T	ENSP00000258737:p.Ala159Val					RAC1_ENST00000356142.4_Missense_Mutation_p.A178V|RAC1_ENST00000488373.1_3'UTR	p.A159V	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	6	689	+		Ovarian(82;0.0776)	159					O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.476C>T	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	.	36	5.951588	0.97139	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	D;D	0.88818	-2.43;-2.43	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.75484	0.965;0.986	D	0.96554	0.9410	10	0.87932	D	0	.	20.731	0.99711	0.0:1.0:0.0:0.0	.	159;178	P63000;A4D2P0	RAC1_HUMAN;.	V	159;178	ENSP00000258737:A159V;ENSP00000348461:A178V	ENSP00000258737:A159V	A	+	2	0	RAC1	6408499	1.000000	0.71417	0.391000	0.26233	0.929000	0.56500	7.715000	0.84713	2.907000	0.99374	0.609000	0.83330	GCG		0.567	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		17	79	0	0	0	1	0	17	79				
ALPK3	57538	broad.mit.edu	37	15	85410593	85410593	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr15:85410593G>A	ENST00000258888.5	+	13	5542	c.5375G>A	c.(5374-5376)cGa>cAa	p.R1792Q		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1792	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACCAAACTCCGAGGGTGAGTG	0.547																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(5374-5376)cGa>cAa		alpha-kinase 3							121.0	110.0	114.0					15																	85410593		2203	4299	6502	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85410593G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5375G>A	15.37:g.85410593G>A	ENSP00000258888:p.Arg1792Gln						p.R1792Q	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		13	5542	+			1792			Alpha-type protein kinase.		Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.5375G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044010	0.75732	.	.	ENSG00000136383	ENST00000258888	T	0.06142	3.34	5.0	3.03	0.35002	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.176384	0.35378	N	0.003247	T	0.05273	0.0140	L	0.27053	0.805	0.30457	N	0.774643	B;P	0.49253	0.334;0.921	B;P	0.44359	0.035;0.447	T	0.11792	-1.0573	10	0.66056	D	0.02	-2.6796	5.2428	0.15481	0.1757:0.1769:0.6474:0.0	.	93;1792	B4DU37;Q96L96	.;ALPK3_HUMAN	Q	1792	ENSP00000258888:R1792Q	ENSP00000258888:R1792Q	R	+	2	0	ALPK3	83211597	0.997000	0.39634	0.996000	0.52242	0.750000	0.42670	2.355000	0.44107	1.284000	0.44531	0.655000	0.94253	CGA		0.547	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		6	30	0	0	0	1	0	6	30				
ABCB1	5243	broad.mit.edu	37	7	87195485	87195485	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr7:87195485G>A	ENST00000265724.3	-	8	1020	c.603C>T	c.(601-603)ttC>ttT	p.F201F	ABCB1_ENST00000543898.1_Silent_p.F137F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	201	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.F201Y(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TAAACCCAGTGAAAAATGTTG	0.403																																						ENST00000265724.3																			1	Substitution - Missense(1)	p.F201Y(1)	skin(1)	NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(601-603)ttC>ttT		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						150.0	138.0	142.0					7																	87195485		2203	4300	6503	SO:0001819	synonymous_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87195485G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.603C>T	7.37:g.87195485G>A						ABCB1_ENST00000543898.1_Silent_p.F137F	p.F201F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			8	1020	-	Esophageal squamous(14;0.00164)		201			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	c.603C>T	CCDS5608.1																																																																																				0.403	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		14	41	0	0	0	1	0	14	41				
CCT8	10694	broad.mit.edu	37	21	30426392	30426392	+	IGR	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr21:30426392G>C	ENST00000286788.4	-	0	2005				USP16_ENST00000399976.2_Missense_Mutation_p.E786Q|USP16_ENST00000399975.3_Missense_Mutation_p.E785Q|USP16_ENST00000334352.4_Missense_Mutation_p.E786Q|CCT8_ENST00000470450.1_5'Flank|USP16_ENST00000535828.1_Missense_Mutation_p.E415Q	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)						'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						GACAGATTTTGAAATGGAATC	0.373																																						ENST00000334352.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						c.(2356-2358)Gaa>Caa		ubiquitin specific peptidase 16							85.0	84.0	84.0					21																	30426392		2203	4300	6503	SO:0001628	intergenic_variant	10600				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30426392G>C	Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595		21.37:g.30426392G>C						USP16_ENST00000399975.3_Missense_Mutation_p.E785Q|USP16_ENST00000399976.2_Missense_Mutation_p.E786Q|USP16_ENST00000535828.1_Missense_Mutation_p.E415Q	p.E786Q	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN			19	2587	+			786					A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	ENST00000286788.4	37	c.2356G>C	CCDS33528.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060325	0.76074	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000535828	T;T;T;T	0.33865	3.3;3.3;3.3;1.39	5.25	5.25	0.73442	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.111585	0.64402	D	0.000009	T	0.52058	0.1711	L	0.41492	1.28	0.45528	D	0.99848	P;D;P;D	0.76494	0.749;0.999;0.826;0.992	B;D;P;P	0.68943	0.374;0.961;0.534;0.905	T	0.45498	-0.9257	10	0.45353	T	0.12	.	19.0364	0.92980	0.0:0.0:1.0:0.0	.	415;771;785;786	B4DUS4;Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;.;UBP16_HUMAN	Q	785;786;786;415	ENSP00000382857:E785Q;ENSP00000382858:E786Q;ENSP00000334808:E786Q;ENSP00000442855:E415Q	ENSP00000334808:E786Q	E	+	1	0	USP16	29348263	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.188000	0.65093	2.731000	0.93534	0.555000	0.69702	GAA		0.373	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171822.1			8	36	0	0	0	1	0	8	36				
DMXL2	23312	broad.mit.edu	37	15	51763484	51763484	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr15:51763484C>G	ENST00000251076.5	-	29	7612	c.7325G>C	c.(7324-7326)aGa>aCa	p.R2442T	DMXL2_ENST00000543779.2_Missense_Mutation_p.R2443T|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.R1806T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2442						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTAAGATGGTCTTTCTGCAGG	0.423																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(7324-7326)aGa>aCa		Dmx-like 2							175.0	171.0	172.0					15																	51763484		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51763484C>G	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7325G>C	15.37:g.51763484C>G	ENSP00000251076:p.Arg2442Thr					DMXL2_ENST00000543779.2_Missense_Mutation_p.R2443T|DMXL2_ENST00000449909.3_Missense_Mutation_p.R1806T|RP11-707P17.1_ENST00000561007.1_RNA	p.R2442T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	29	7612	-			2442					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.7325G>C	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273976	0.80580	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.23552	2.04;2.04;1.9	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	L	0.38531	1.155	0.58432	D	0.999999	D;D;D;B	0.71674	0.998;0.987;0.993;0.01	D;D;D;B	0.72338	0.943;0.942;0.977;0.01	T	0.12553	-1.0543	10	0.44086	T	0.13	.	18.9262	0.92546	0.0:1.0:0.0:0.0	.	2443;1806;2442;2443	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	T	2442;2443;1806	ENSP00000251076:R2442T;ENSP00000441858:R2443T;ENSP00000400855:R1806T	ENSP00000251076:R2442T	R	-	2	0	DMXL2	49550776	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.103000	0.77014	2.701000	0.92244	0.561000	0.74099	AGA		0.423	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		21	70	0	0	0	1	0	21	70				
HES1	3280	broad.mit.edu	37	3	193855479	193855479	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:193855479G>A	ENST00000232424.3	+	4	536	c.300G>A	c.(298-300)ctG>ctA	p.L100L		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		CAGCTGCGCTGAGCACAGACC	0.672																																						ENST00000232424.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						c.(298-300)ctG>ctA		hes family bHLH transcription factor 1							40.0	36.0	38.0					3																	193855479		2203	4300	6503	SO:0001819	synonymous_variant	3280				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr3:193855479G>A	L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"""Basic helix-loop-helix proteins"""	5192	protein-coding gene	gene with protein product		139605	"""hairy homolog (Drosophila)"", ""hairy and enhancer of split 1, (Drosophila)"""	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.300G>A	3.37:g.193855479G>A							p.L100L	NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)	4	536	+	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		100					A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Silent	SNP	ENST00000232424.3	37	c.300G>A	CCDS3305.1																																																																																				0.672	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342632.1			7	39	0	0	0	1	0	7	39				
TTC3	7267	broad.mit.edu	37	21	38560888	38560888	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr21:38560888G>A	ENST00000399017.2	+	39	7763	c.5016G>A	c.(5014-5016)ctG>ctA	p.L1672L	TTC3_ENST00000355666.1_Silent_p.L1672L|TTC3_ENST00000354749.2_Silent_p.L1672L|TTC3_ENST00000479930.1_3'UTR|TTC3-AS1_ENST00000424733.1_RNA	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1672					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGCTGGGGCTGATTAGCCGGT	0.423																																					Ovarian(38;194 1649 35661)	ENST00000399017.2																			0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(5014-5016)ctG>ctA		tetratricopeptide repeat domain 3							78.0	67.0	71.0					21																	38560888		2203	4300	6503	SO:0001819	synonymous_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38560888G>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5016G>A	21.37:g.38560888G>A						TTC3_ENST00000355666.1_Silent_p.L1672L|TTC3_ENST00000354749.2_Silent_p.L1672L|TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000479930.1_3'UTR	p.L1672L	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN			39	7763	+		Myeloproliferative disorder(46;0.0412)	1672					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	c.5016G>A	CCDS13651.1																																																																																				0.423	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			4	25	0	0	0	1	0	4	25				
HERC2	8924	broad.mit.edu	37	15	28387409	28387409	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr15:28387409G>T	ENST00000261609.7	-	76	11783	c.11675C>A	c.(11674-11676)cCg>cAg	p.P3892Q		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACGGGGCAACGGTGTTCTTTT	0.483																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(11674-11676)cCg>cAg		HECT and RLD domain containing E3 ubiquitin protein ligase 2							67.0	64.0	65.0					15																	28387409		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28387409G>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11675C>A	15.37:g.28387409G>T	ENSP00000261609:p.Pro3892Gln						p.P3892Q	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	76	11783	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3892						Missense_Mutation	SNP	ENST00000261609.7	37	c.11675C>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494376	0.64186	.	.	ENSG00000128731	ENST00000261609	T	0.37235	1.21	5.9	4.99	0.66335	.	0.112134	0.64402	D	0.000008	T	0.24275	0.0588	N	0.22421	0.69	0.58432	D	0.999997	B	0.33135	0.399	B	0.24848	0.056	T	0.03493	-1.1031	10	0.32370	T	0.25	.	15.1198	0.72434	0.0677:0.0:0.9323:0.0	.	3892	O95714	HERC2_HUMAN	Q	3892	ENSP00000261609:P3892Q	ENSP00000261609:P3892Q	P	-	2	0	HERC2	26061004	1.000000	0.71417	0.183000	0.23137	0.970000	0.65996	6.331000	0.72929	1.516000	0.48900	0.650000	0.86243	CCG		0.483	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		6	38	1	0	3.59834e-05	1	3.74487e-05	6	38				
PLEKHF2	79666	broad.mit.edu	37	8	96166674	96166674	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:96166674C>T	ENST00000315367.3	+	2	643	c.402C>T	c.(400-402)ctC>ctT	p.L134L	PLEKHF2_ENST00000519516.1_Silent_p.L134L	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	134					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)|transport vesicle (GO:0030133)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					CTGATTTACTCTCCAAAAGTG	0.398																																						ENST00000315367.3																			0				breast(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(400-402)ctC>ctT		pleckstrin homology domain containing, family F (with FYVE domain) member 2							99.0	107.0	104.0					8																	96166674		2203	4300	6503	SO:0001819	synonymous_variant	79666					transport vesicle	metal ion binding|protein binding	g.chr8:96166674C>T	AF434819	CCDS6267.1	8q22.1	2013-01-10				ENSG00000175895		"""Zinc fingers, FYVE domain containing"", ""Pleckstrin homology (PH) domain containing"""	20757	protein-coding gene	gene with protein product		615208					Standard	NM_024613		Approved	ZFYVE18, PHAFIN2, FLJ13187	uc003yhn.2	Q9H8W4		ENST00000315367.3:c.402C>T	8.37:g.96166674C>T						PLEKHF2_ENST00000519516.1_Silent_p.L134L	p.L134L	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN			2	643	+	Breast(36;3.18e-05)		134						Silent	SNP	ENST00000315367.3	37	c.402C>T	CCDS6267.1																																																																																				0.398	PLEKHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379666.1	NM_024613		19	58	0	0	0	1	0	19	58				
FAM19A5	25817	broad.mit.edu	37	22	49042509	49042509	+	Silent	SNP	A	A	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr22:49042509A>G	ENST00000402357.1	+	2	346	c.213A>G	c.(211-213)agA>agG	p.R71R	FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000358295.5_Silent_p.R64R	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	71						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GTGCGTGTAGAAAGGGGCAGA	0.711																																						ENST00000358295.5																			0				large_intestine(1)|lung(6)	7						c.(190-192)agA>agG		family with sequence similarity 19 (chemokine (C-C motif)-like), member A5							18.0	23.0	21.0					22																	49042509		2028	4169	6197	SO:0001819	synonymous_variant	25817					extracellular region|integral to membrane		g.chr22:49042509A>G	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.213A>G	22.37:g.49042509A>G						FAM19A5_ENST00000402357.1_Silent_p.R71R|FAM19A5_ENST00000473898.1_Intron	p.R64R	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)	2	367	+		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	71					A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Silent	SNP	ENST00000402357.1	37	c.192A>G	CCDS46728.1																																																																																				0.711	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	NM_015381		3	34	0	0	0	1	0	3	34				
C15orf52	388115	broad.mit.edu	37	15	40630808	40630808	+	Missense_Mutation	SNP	C	C	A	rs548213771		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr15:40630808C>A	ENST00000559313.1	-	5	588	c.573G>T	c.(571-573)gaG>gaT	p.E191D	C15orf52_ENST00000557973.1_5'Flank|C15orf52_ENST00000397536.2_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	191							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CAGGTGACCCCTCTATGCCTT	0.587											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000559313.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(571-573)gaG>gaT		chromosome 15 open reading frame 52							118.0	129.0	125.0					15																	40630808		2046	4190	6236	SO:0001583	missense	388115							g.chr15:40630808C>A	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.573G>T	15.37:g.40630808C>A	ENSP00000453969:p.Glu191Asp		OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	894		p.E191D	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	5	588	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	191					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	ENST00000559313.1	37	c.573G>T	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951837	0.34471	.	.	ENSG00000188549	ENST00000382688;ENST00000397535	.	.	.	4.44	-8.87	0.00792	.	1.056350	0.07460	N	0.900517	T	0.26955	0.0660	L	0.56769	1.78	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.001	T	0.26710	-1.0095	9	0.24483	T	0.36	-0.6421	1.3283	0.02130	0.493:0.2037:0.1233:0.18	.	123;191	Q6ZUT6-3;Q6ZUT6	.;CO052_HUMAN	D	191;123	.	ENSP00000372135:E191D	E	-	3	2	C15orf52	38418100	0.000000	0.05858	0.021000	0.16686	0.512000	0.34134	-0.370000	0.07523	-1.490000	0.01842	-0.457000	0.05445	GAG		0.587	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		20	64	1	0	7.21436e-19	1	8.17391e-19	20	64				
SEMA6A	57556	broad.mit.edu	37	5	115783320	115783320	+	Silent	SNP	C	C	T	rs78791241	byFrequency	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:115783320C>T	ENST00000343348.6	-	19	2869	c.2082G>A	c.(2080-2082)tcG>tcA	p.S694S	CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000513137.1_Silent_p.S121S|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.S694S|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_Silent_p.S171S|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000503865.1_Silent_p.S73S|SEMA6A_ENST00000257414.8_Silent_p.S711S	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	694					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AGCCCCGGCGCGAGTGGGTGA	0.627													C|||	13	0.00259585	0.0	0.0	5008	,	,		15468	0.0129		0.0	False		,,,				2504	0.0					ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2080-2082)tcG>tcA		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							59.0	68.0	65.0					5																	115783320		2130	4241	6371	SO:0001819	synonymous_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115783320C>T	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2082G>A	5.37:g.115783320C>T						SEMA6A_ENST00000503865.1_Silent_p.S73S|SEMA6A_ENST00000282394.6_Silent_p.S171S|SEMA6A_ENST00000513137.1_Silent_p.S121S|SEMA6A_ENST00000257414.8_Silent_p.S711S|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.S694S	p.S694S	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	2869	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	694					Q9P2H9	Silent	SNP	ENST00000343348.6	37	c.2082G>A	CCDS47256.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	10.51	1.369189	0.24771	.	.	ENSG00000092421	ENST00000515129	.	.	.	4.58	-4.94	0.03057	.	.	.	.	.	T	0.38983	0.1061	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45527	-0.9255	4	.	.	.	.	5.7655	0.18224	0.1056:0.1064:0.5537:0.2343	.	.	.	.	H	209	.	.	R	-	2	0	SEMA6A	115811219	0.163000	0.22920	0.983000	0.44433	0.990000	0.78478	-0.673000	0.05239	-0.624000	0.05611	0.555000	0.69702	CGC		0.627	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		20	108	0	0	0	1	0	20	108				
STXBP4	252983	broad.mit.edu	37	17	53084944	53084944	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:53084944G>C	ENST00000376352.2	+	8	859	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	STXBP4_ENST00000398391.2_Missense_Mutation_p.E143Q|STXBP4_ENST00000434978.2_Missense_Mutation_p.E218Q|STXBP4_ENST00000405898.1_Missense_Mutation_p.E218Q|STXBP4_ENST00000299341.4_Missense_Mutation_p.E143Q	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	218					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						CTTTAAGGCAGAGAAACTGGA	0.378																																						ENST00000376352.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(652-654)Gag>Cag		syntaxin binding protein 4							246.0	266.0	260.0					17																	53084944		2203	4300	6503	SO:0001583	missense	252983					cytoplasm	calcium ion binding	g.chr17:53084944G>C	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.652G>C	17.37:g.53084944G>C	ENSP00000365530:p.Glu218Gln					STXBP4_ENST00000434978.2_Missense_Mutation_p.E218Q|STXBP4_ENST00000299341.4_Missense_Mutation_p.E143Q|STXBP4_ENST00000398391.2_Missense_Mutation_p.E143Q|STXBP4_ENST00000405898.1_Missense_Mutation_p.E218Q	p.E218Q	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN			8	859	+			218					Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	c.652G>C	CCDS11584.2	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255616	0.59321	.	.	ENSG00000166263	ENST00000376352;ENST00000299341;ENST00000405898;ENST00000434978;ENST00000398391	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	6.17	5.21	0.72293	EF-hand-like domain (1);	0.106857	0.64402	D	0.000011	T	0.55689	0.1936	M	0.78801	2.425	0.50813	D	0.999899	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.96;0.985;0.959	T	0.60835	-0.7184	10	0.66056	D	0.02	-11.8167	13.3443	0.60564	0.0754:0.0:0.9246:0.0	.	218;143;218	E7EPP7;Q6ZWJ1-2;Q6ZWJ1	.;.;STXB4_HUMAN	Q	218;143;218;218;143	ENSP00000365530:E218Q;ENSP00000299341:E143Q;ENSP00000385944:E218Q;ENSP00000391087:E218Q;ENSP00000381427:E143Q	ENSP00000299341:E143Q	E	+	1	0	STXBP4	50439943	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	6.129000	0.71657	1.636000	0.50526	-0.136000	0.14681	GAG		0.378	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		34	145	0	0	0	1	0	34	145				
NPSR1	387129	broad.mit.edu	37	7	34724253	34724253	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr7:34724253G>C	ENST00000360581.1	+	2	365	c.237G>C	c.(235-237)aaG>aaC	p.K79N	NPSR1_ENST00000381553.3_Missense_Mutation_p.K79N|NPSR1_ENST00000359791.1_Missense_Mutation_p.K79N|NPSR1_ENST00000381542.1_Missense_Mutation_p.K79N|NPSR1_ENST00000465305.1_Missense_Mutation_p.K79N|NPSR1_ENST00000531252.1_Missense_Mutation_p.K79N|NPSR1_ENST00000381539.3_Missense_Mutation_p.K79N|NPSR1-AS1_ENST00000419766.1_RNA	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	79						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GGAGAAAGAAGAAGTCAAGAA	0.438																																						ENST00000360581.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31						c.(235-237)aaG>aaC		neuropeptide S receptor 1	Halothane(DB01159)						153.0	146.0	148.0					7																	34724253		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34724253G>C	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.237G>C	7.37:g.34724253G>C	ENSP00000353788:p.Lys79Asn					NPSR1_ENST00000359791.1_Missense_Mutation_p.K79N|NPSR1_ENST00000381539.3_Missense_Mutation_p.K79N|NPSR1_ENST00000531252.1_Missense_Mutation_p.K79N|NPSR1_ENST00000465305.1_Missense_Mutation_p.K79N|NPSR1_ENST00000381553.3_Missense_Mutation_p.K79N|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Missense_Mutation_p.K79N	p.K79N	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN			2	365	+			79					A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.237G>C	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288744	0.40494	.	.	ENSG00000187258	ENST00000381553;ENST00000465305;ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539	T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12	5.0	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.087436	0.48767	D	0.000168	T	0.39036	0.1063	L	0.56769	1.78	0.22787	N	0.998737	B;B;B;B;B;B	0.30361	0.089;0.277;0.018;0.127;0.045;0.048	B;B;B;B;B;B	0.34652	0.037;0.109;0.031;0.187;0.031;0.085	T	0.37731	-0.9693	10	0.87932	D	0	-11.9901	8.307	0.32049	0.2645:0.0:0.7355:0.0	.	79;79;79;79;79;79	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	N	79	ENSP00000370965:K79N;ENSP00000434955:K79N;ENSP00000353788:K79N;ENSP00000370953:K79N;ENSP00000352839:K79N;ENSP00000433258:K79N;ENSP00000370950:K79N	ENSP00000352839:K79N	K	+	3	2	NPSR1	34690778	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	0.629000	0.24538	0.282000	0.22254	0.655000	0.94253	AAG		0.438	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		10	37	0	0	0	1	0	10	37				
FRY	10129	broad.mit.edu	37	13	32731436	32731436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr13:32731436C>T	ENST00000380250.3	+	16	2174	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	560						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTCTCAAGTACGAAAAGCTGT	0.343																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(1678-1680)Cga>Tga		furry homolog (Drosophila)							108.0	100.0	103.0					13																	32731436		1861	4101	5962	SO:0001587	stop_gained	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32731436C>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1678C>T	13.37:g.32731436C>T	ENSP00000369600:p.Arg560*						p.R560*	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	16	2174	+		Lung SC(185;0.0271)	560					Q9Y3N6	Nonsense_Mutation	SNP	ENST00000380250.3	37	c.1678C>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	44	10.750419	0.99461	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	.	.	.	5.52	3.63	0.41609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.4573	0.55712	0.5165:0.4835:0.0:0.0	.	.	.	.	X	560;488	.	ENSP00000267067:R488X	R	+	1	2	FRY	31629436	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.081000	0.41596	1.421000	0.47157	0.650000	0.86243	CGA		0.343	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		6	27	0	0	0	1	0	6	27				
LGR5	8549	broad.mit.edu	37	12	71960661	71960661	+	Missense_Mutation	SNP	G	G	A	rs148862507	byFrequency	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:71960661G>A	ENST00000266674.5	+	11	1350	c.1039G>A	c.(1039-1041)Gtc>Atc	p.V347I	LGR5_ENST00000540815.2_Missense_Mutation_p.V323I|LGR5_ENST00000536515.1_Missense_Mutation_p.V275I			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	347					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.V347L(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCCTCAAACCGTCTGCAATCA	0.403													G|||	4	0.000798722	0.003	0.0	5008	,	,		21678	0.0		0.0	False		,,,				2504	0.0					ENST00000266674.5																		NUP107/LGR5(2)	1	Substitution - Missense(1)	p.V347L(1)	urinary_tract(1)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(1039-1041)Gtc>Atc		leucine-rich repeat containing G protein-coupled receptor 5		G	ILE/VAL	20,4386	27.2+/-55.0	0,20,2183	205.0	186.0	193.0		1039	4.8	1.0	12	dbSNP_134	193	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LGR5	NM_003667.2	29	0,21,6482	AA,AG,GG		0.0116,0.4539,0.1615	benign	347/908	71960661	21,12985	2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71960661G>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1039G>A	12.37:g.71960661G>A	ENSP00000266674:p.Val347Ile					LGR5_ENST00000536515.1_Missense_Mutation_p.V275I|LGR5_ENST00000540815.2_Missense_Mutation_p.V323I	p.V347I			O75473	LGR5_HUMAN			11	1350	+			347					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1039G>A	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059944	0.55325	0.004539	1.16E-4	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.31769	1.48;1.48;1.48	5.67	4.78	0.61160	.	0.403999	0.23442	N	0.048134	T	0.18299	0.0439	N	0.05592	-0.015	0.29230	N	0.873334	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.08953	-1.0697	10	0.38643	T	0.18	.	14.721	0.69305	0.0695:0.0:0.9305:0.0	.	323;347	O75473-2;O75473	.;LGR5_HUMAN	I	347;347;275;323	ENSP00000266674:V347I;ENSP00000443033:V275I;ENSP00000441035:V323I	ENSP00000266674:V347I	V	+	1	0	LGR5	70246928	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.983000	0.49345	1.531000	0.49152	0.655000	0.94253	GTC		0.403	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		8	32	0	0	0	1	0	8	32				
ZBTB4	57659	broad.mit.edu	37	17	7365712	7365712	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:7365712G>A	ENST00000311403.4	-	4	2928	c.2589C>T	c.(2587-2589)agC>agT	p.S863S	ZBTB4_ENST00000380599.4_Silent_p.S863S	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	863					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGCTGCCCCCGCTTGCCACTA	0.622																																						ENST00000311403.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36						c.(2587-2589)agC>agT		zinc finger and BTB domain containing 4							26.0	27.0	27.0					17																	7365712		2203	4300	6503	SO:0001819	synonymous_variant	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7365712G>A	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2589C>T	17.37:g.7365712G>A						ZBTB4_ENST00000380599.4_Silent_p.S863S	p.S863S	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	2928	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	863					B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	ENST00000311403.4	37	c.2589C>T	CCDS11107.1																																																																																				0.622	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		7	47	0	0	0	1	0	7	47				
EIF2AK3	9451	broad.mit.edu	37	2	88874590	88874590	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr2:88874590G>T	ENST00000303236.3	-	13	2712	c.2411C>A	c.(2410-2412)tCt>tAt	p.S804Y	EIF2AK3_ENST00000470706.1_5'UTR|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.S653Y	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	804	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						TACTATTGAAGAGGAGGTTCT	0.418																																					GBM(138;671 1851 16235 39058 45249)	ENST00000303236.3																			0				ovary(3)	3						c.(2410-2412)tCt>tAt		eukaryotic translation initiation factor 2-alpha kinase 3							157.0	160.0	159.0					2																	88874590		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88874590G>T	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2411C>A	2.37:g.88874590G>T	ENSP00000307235:p.Ser804Tyr					EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.S653Y|AC104134.2_ENST00000413234.1_RNA	p.S804Y	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN			13	2712	-			804			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.2411C>A	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784413	0.31593	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.74421	-0.72;-0.67;-0.84	5.99	5.99	0.97316	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049166	0.85682	D	0.000000	T	0.81088	0.4750	L	0.46670	1.46	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.72007	-0.4420	10	0.02654	T	1	-22.079	20.4756	0.99175	0.0:0.0:1.0:0.0	.	804	Q9NZJ5	E2AK3_HUMAN	Y	653;804;653;683	ENSP00000408325:S653Y;ENSP00000307235:S804Y;ENSP00000412076:S683Y	ENSP00000307235:S804Y	S	-	2	0	EIF2AK3	88655705	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	8.155000	0.89643	2.847000	0.97988	0.655000	0.94253	TCT		0.418	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836		24	93	1	0	1.10923e-09	1	1.22655e-09	24	93				
PCDHB10	56126	broad.mit.edu	37	5	140573209	140573209	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:140573209G>C	ENST00000239446.4	+	1	1268	c.1084G>C	c.(1084-1086)Gag>Cag	p.E362Q		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	362	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATTCTCCTGAGACGCCGCT	0.418																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(1084-1086)Gag>Cag									75.0	77.0	76.0					5																	140573209		2203	4300	6503	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573209G>C	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1084G>C	5.37:g.140573209G>C	ENSP00000239446:p.Glu362Gln						p.E362Q	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1268	+			362			Cadherin 4.		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1084G>C	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195585	0.38806	.	.	ENSG00000120324	ENST00000239446	T	0.38401	1.14	3.23	3.23	0.37069	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.62429	0.2427	M	0.88310	2.945	0.38240	D	0.941293	P	0.52577	0.954	D	0.63192	0.912	T	0.73338	-0.4014	9	0.49607	T	0.09	.	14.6377	0.68702	0.0:0.0:1.0:0.0	.	362	Q9UN67	PCDBA_HUMAN	Q	362	ENSP00000239446:E362Q	ENSP00000239446:E362Q	E	+	1	0	PCDHB10	140553393	0.978000	0.34361	0.794000	0.32065	0.220000	0.24768	3.906000	0.56340	1.824000	0.53156	0.556000	0.70494	GAG		0.418	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		12	41	0	0	0	1	0	12	41				
ZNF296	162979	broad.mit.edu	37	19	45575432	45575432	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:45575432C>T	ENST00000303809.2	-	3	1069	c.855G>A	c.(853-855)ccG>ccA	p.P285P		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	285					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GGCTCTGGGGCGGCACCTGCC	0.687																																						ENST00000303809.2																			0				breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						c.(853-855)ccG>ccA		zinc finger protein 296							32.0	42.0	39.0					19																	45575432		2194	4279	6473	SO:0001819	synonymous_variant	162979				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:45575432C>T	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"""Zinc fingers, C2H2-type"""	15981	protein-coding gene	gene with protein product		613226	"""zinc finger protein 342"""	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.855G>A	19.37:g.45575432C>T							p.P285P	NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN			3	1069	-			285						Silent	SNP	ENST00000303809.2	37	c.855G>A	CCDS12653.1																																																																																				0.687	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288		18	81	0	0	0	1	0	18	81				
MMP2	4313	broad.mit.edu	37	16	55517036	55517036	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:55517036G>A	ENST00000219070.4	+	2	878	c.369G>A	c.(367-369)caG>caA	p.Q123Q	MMP2_ENST00000570308.1_Silent_p.Q47Q|MMP2_ENST00000437642.2_Silent_p.Q73Q|MMP2_ENST00000543485.1_Silent_p.Q47Q	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	123	Collagenase-like 1.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	ACAAGAACCAGATCACATACA	0.597																																						ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(367-369)caG>caA		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						63.0	57.0	59.0					16																	55517036		2198	4300	6498	SO:0001819	synonymous_variant	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55517036G>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.369G>A	16.37:g.55517036G>A						MMP2_ENST00000570308.1_Silent_p.Q47Q|MMP2_ENST00000543485.1_Silent_p.Q47Q|MMP2_ENST00000437642.2_Silent_p.Q73Q	p.Q123Q	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	2	878	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	123			Collagenase-like 1.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	c.369G>A	CCDS10752.1																																																																																				0.597	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			9	49	0	0	0	1	0	9	49				
DOHH	83475	broad.mit.edu	37	19	3494083	3494083	+	Missense_Mutation	SNP	G	G	C	rs202024004		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:3494083G>C	ENST00000427575.1	-	3	745	c.294C>G	c.(292-294)atC>atG	p.I98M	DOHH_ENST00000250937.3_Missense_Mutation_p.I98M	NM_001145165.1	NP_001138637.1			deoxyhypusine hydroxylase/monooxygenase											central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGTCCCCGATGGCCCCCA	0.632																																						ENST00000427575.1																			0				central_nervous_system(1)|large_intestine(1)|lung(1)	3						c.(292-294)atC>atG		deoxyhypusine hydroxylase/monooxygenase							41.0	41.0	41.0					19																	3494083		2203	4300	6503	SO:0001583	missense	83475				peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding	g.chr19:3494083G>C	BC002817	CCDS12108.1	19p13.3	2008-02-05	2006-05-22	2006-05-22		ENSG00000129932			28662	protein-coding gene	gene with protein product		611262	"""HEAT-like (PBS lyase) repeat containing 1"""	HLRC1		16371467, 16533814	Standard	NM_031304		Approved	MGC4293	uc002lxs.3	Q9BU89		ENST00000427575.1:c.294C>G	19.37:g.3494083G>C	ENSP00000398882:p.Ile98Met					DOHH_ENST00000250937.3_Missense_Mutation_p.I98M	p.I98M	NM_001145165.1	NP_001138637.1	Q9BU89	DOHH_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	3	745	-			98						Missense_Mutation	SNP	ENST00000427575.1	37	c.294C>G	CCDS12108.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.42	3.118600	0.56505	.	.	ENSG00000129932	ENST00000427575;ENST00000250937	T;T	0.21031	2.03;2.03	4.5	-2.43	0.06522	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45836	0.1362	M	0.89785	3.06	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.50162	-0.8860	10	0.56958	D	0.05	-14.4583	9.6487	0.39883	0.7782:0.0:0.2218:0.0	.	98	Q9BU89	DOHH_HUMAN	M	98	ENSP00000398882:I98M;ENSP00000250937:I98M	ENSP00000250937:I98M	I	-	3	3	DOHH	3445083	0.085000	0.21516	0.987000	0.45799	0.747000	0.42532	-0.503000	0.06383	-0.277000	0.09193	0.561000	0.74099	ATC		0.632	DOHH-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452932.1	NM_031304		4	20	0	0	0	1	0	4	20				
ZFP42	132625	broad.mit.edu	37	4	188923976	188923976	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:188923976G>A	ENST00000326866.4	+	4	423	c.15G>A	c.(13-15)ctG>ctA	p.L5L	ZFP42_ENST00000509524.1_Silent_p.L5L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	5					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L5L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GCCAGCAACTGAAGAAACGGG	0.542																																						ENST00000326866.4																			1	Substitution - coding silent(1)	p.L5L(1)	cervix(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27						c.(13-15)ctG>ctA		ZFP42 zinc finger protein							67.0	73.0	71.0					4																	188923976		2203	4300	6503	SO:0001819	synonymous_variant	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188923976G>A	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.15G>A	4.37:g.188923976G>A						ZFP42_ENST00000509524.1_Silent_p.L5L	p.L5L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	4	423	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	5					D3DP65|Q8WXE2	Silent	SNP	ENST00000326866.4	37	c.15G>A	CCDS3849.1																																																																																				0.542	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		15	44	0	0	0	1	0	15	44				
NOTCH2	4853	broad.mit.edu	37	1	120510130	120510130	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:120510130C>A	ENST00000256646.2	-	8	1598	c.1379G>T	c.(1378-1380)tGc>tTc	p.C460F		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	460	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCTGAATGGCACTCATTGAT	0.512			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(1378-1380)tGc>tTc		notch 2							183.0	159.0	167.0					1																	120510130		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120510130C>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1379G>T	1.37:g.120510130C>A	ENSP00000256646:p.Cys460Phe						p.C460F	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1598	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	460			EGF-like 12; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.1379G>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721713	0.89298	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.99992	-12.4	5.71	5.71	0.89125	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.41294	U	0.000915	D	0.99994	0.9999	H	0.99746	4.745	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.999	D	0.99996	1.5521	10	0.72032	D	0.01	.	18.8332	0.92150	0.0:1.0:0.0:0.0	.	421;460;460	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	F	460;421	ENSP00000256646:C460F	ENSP00000256646:C460F	C	-	2	0	NOTCH2	120311653	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.487000	0.81328	2.698000	0.92095	0.650000	0.86243	TGC		0.512	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		14	77	1	0	1.5842e-08	1	1.74338e-08	14	77				
ATP4A	495	broad.mit.edu	37	19	36051372	36051372	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:36051372G>T	ENST00000262623.3	-	6	708	c.680C>A	c.(679-681)tCc>tAc	p.S227Y		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	227					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.S227F(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TGTCAGCGAGGAGTTGTCCAC	0.647																																						ENST00000262623.3																			2	Substitution - Missense(2)	p.S227F(2)	lung(2)	breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(679-681)tCc>tAc		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						77.0	72.0	74.0					19																	36051372		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36051372G>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.680C>A	19.37:g.36051372G>T	ENSP00000262623:p.Ser227Tyr						p.S227Y	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		6	708	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		227					O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.680C>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	g	21.5	4.165616	0.78339	.	.	ENSG00000105675	ENST00000262623	D	0.93076	-3.16	4.16	4.16	0.48862	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000004	D	0.97820	0.9284	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98748	1.0719	10	0.87932	D	0	.	14.3183	0.66468	0.0:0.0:1.0:0.0	.	227	P20648	ATP4A_HUMAN	Y	227	ENSP00000262623:S227Y	ENSP00000262623:S227Y	S	-	2	0	ATP4A	40743212	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	9.598000	0.98277	2.314000	0.78098	0.486000	0.48141	TCC		0.647	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		15	51	1	0	2.61681e-11	1	2.92169e-11	15	51				
SLC26A2	1836	broad.mit.edu	37	5	149359973	149359973	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:149359973C>G	ENST00000286298.4	+	3	1085	c.817C>G	c.(817-819)Ctt>Gtt	p.L273V		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	273					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAAGTATCTTCTTGGGCTCAA	0.453																																						ENST00000286298.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(817-819)Ctt>Gtt		solute carrier family 26 (anion exchanger), member 2							192.0	176.0	182.0					5																	149359973		2203	4300	6503	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149359973C>G	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.817C>G	5.37:g.149359973C>G	ENSP00000286298:p.Leu273Val						p.L273V	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1085	+			273					A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.817C>G	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251760	0.59212	.	.	ENSG00000155850	ENST00000286298	D	0.94376	-3.41	5.02	5.02	0.67125	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.96420	0.8832	M	0.83953	2.67	0.50171	D	0.999858	D	0.65815	0.995	D	0.72075	0.976	D	0.96764	0.9563	10	0.87932	D	0	.	12.8028	0.57596	0.0:0.9208:0.0:0.0792	.	273	P50443	S26A2_HUMAN	V	273	ENSP00000286298:L273V	ENSP00000286298:L273V	L	+	1	0	SLC26A2	149340166	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.053000	0.57427	2.335000	0.79485	0.579000	0.79373	CTT		0.453	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		18	91	0	0	0	1	0	18	91				
TNC	3371	broad.mit.edu	37	9	117825457	117825457	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:117825457C>T	ENST00000350763.4	-	13	4183	c.3772G>A	c.(3772-3774)Gat>Aat	p.D1258N	TNC_ENST00000423613.2_Missense_Mutation_p.D1258N|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1258	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTTCCCATATCTGGAACCTCC	0.488																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(3772-3774)Gat>Aat		tenascin C							80.0	70.0	74.0					9																	117825457		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117825457C>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3772G>A	9.37:g.117825457C>T	ENSP00000265131:p.Asp1258Asn					TNC_ENST00000341037.4_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.D1258N|TNC_ENST00000340094.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000346706.3_Intron	p.D1258N	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			13	4183	-			1258			Fibronectin type-III 8.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.3772G>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064383	0.36470	.	.	ENSG00000041982	ENST00000350763;ENST00000423613	T;T	0.51071	0.74;0.72	5.4	1.19	0.21007	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.789596	0.12495	N	0.463902	T	0.20577	0.0495	N	0.01576	-0.805	0.80722	D	1	P;B	0.45283	0.855;0.119	P;B	0.44647	0.456;0.185	T	0.02333	-1.1175	10	0.21014	T	0.42	.	6.3567	0.21404	0.0:0.5625:0.2865:0.151	.	1258;1258	E9PC84;P24821	.;TENA_HUMAN	N	1258	ENSP00000265131:D1258N;ENSP00000411406:D1258N	ENSP00000265131:D1258N	D	-	1	0	TNC	116865278	0.979000	0.34478	0.996000	0.52242	0.994000	0.84299	0.883000	0.28200	0.327000	0.23409	0.655000	0.94253	GAT		0.488	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		5	26	0	0	0	1	0	5	26				
TBX6	6911	broad.mit.edu	37	16	30100023	30100023	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:30100023C>T	ENST00000395224.2	-	5	818	c.759G>A	c.(757-759)caG>caA	p.Q253Q	TBX6_ENST00000553607.1_Silent_p.Q253Q|TBX6_ENST00000279386.2_Silent_p.Q253Q	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	253					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						CCTGTGGGTTCTGGTAGGCTG	0.617																																						ENST00000553607.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(757-759)caG>caA		T-box 6							139.0	142.0	141.0					16																	30100023		2197	4300	6497	SO:0001819	synonymous_variant	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30100023C>T	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.759G>A	16.37:g.30100023C>T						TBX6_ENST00000395224.2_Silent_p.Q253Q|TBX6_ENST00000279386.2_Silent_p.Q253Q	p.Q253Q			O95947	TBX6_HUMAN			4	1452	-			253					Q8TAS4|Q9HA44	Silent	SNP	ENST00000395224.2	37	c.759G>A	CCDS10670.1																																																																																				0.617	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		30	167	0	0	0	1	0	30	167				
MIER3	166968	broad.mit.edu	37	5	56224689	56224689	+	Splice_Site	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:56224689C>G	ENST00000381199.3	-	10	840		c.e10-1		MIER3_ENST00000381213.3_Intron|MIER3_ENST00000381226.3_Splice_Site|MIER3_ENST00000409421.1_Splice_Site|CTD-2310F14.1_ENST00000606813.1_RNA			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		GTCATTCCTTCTAAGaaaaat	0.338																																						ENST00000381226.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19						c.e10-1		mesoderm induction early response 1, family member 3							43.0	44.0	43.0					5																	56224689		2201	4297	6498	SO:0001630	splice_region_variant	166968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr5:56224689C>G	BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.830-1G>C	5.37:g.56224689C>G						CTD-2310F14.1_ENST00000606813.1_RNA|MIER3_ENST00000409421.1_Splice_Site|MIER3_ENST00000381199.3_Splice_Site|MIER3_ENST00000381213.3_Intron				Q7Z3K6	MIER3_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)	10	860	-		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)						B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Splice_Site	SNP	ENST00000381199.3	37			.	.	.	.	.	.	.	.	.	.	C	14.60	2.584781	0.46110	.	.	ENSG00000155545	ENST00000381226;ENST00000381199;ENST00000409421	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9346	0.64017	0.0:0.9272:0.0:0.0728	.	.	.	.	.	-1	.	.	.	-	.	.	MIER3	56260446	1.000000	0.71417	0.999000	0.59377	0.459000	0.32528	5.524000	0.67105	2.647000	0.89833	0.467000	0.42956	.		0.338	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622	Intron	4	13	0	0	0	1	0	4	13				
HNF1B	6928	broad.mit.edu	37	17	36070626	36070626	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:36070626G>A	ENST00000225893.4	-	5	1452	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L	HNF1B_ENST00000561193.1_Missense_Mutation_p.S338L|HNF1B_ENST00000427275.2_Missense_Mutation_p.S338L|HNF1B_ENST00000560016.1_Missense_Mutation_p.S364L	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	364					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			ACTGATTGTTGAGGAGGAAGT	0.547																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(1090-1092)tCa>tTa		HNF1 homeobox B							88.0	75.0	80.0					17																	36070626		2203	4300	6503	SO:0001583	missense	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36070626G>A	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1091C>T	17.37:g.36070626G>A	ENSP00000225893:p.Ser364Leu					HNF1B_ENST00000427275.2_Missense_Mutation_p.S338L|HNF1B_ENST00000561193.1_Missense_Mutation_p.S338L|HNF1B_ENST00000560016.1_Missense_Mutation_p.S364L	p.S364L	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		5	1452	-		Breast(25;0.00765)|Ovarian(249;0.15)	364					B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.1091C>T	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418156	0.62622	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	D;D	0.97279	-4.32;-4.32	5.7	5.7	0.88788	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.251365	0.40728	N	0.001027	D	0.95623	0.8577	L	0.56769	1.78	0.38403	D	0.945728	B;B	0.32653	0.343;0.379	B;B	0.34536	0.141;0.185	D	0.95218	0.8331	10	0.42905	T	0.14	-1.966	15.1401	0.72604	0.0:0.1514:0.8486:0.0	.	338;364	E0YMJ6;P35680	.;HNF1B_HUMAN	L	364;338;364;252	ENSP00000225893:S364L;ENSP00000412212:S338L	ENSP00000225893:S364L	S	-	2	0	HNF1B	33144739	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.360000	0.79487	2.698000	0.92095	0.655000	0.94253	TCA		0.547	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		9	34	0	0	0	1	0	9	34				
HNF1A	6927	broad.mit.edu	37	12	121437302	121437302	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:121437302C>G	ENST00000257555.6	+	9	1866	c.1640C>G	c.(1639-1641)aCt>aGt	p.T547S	HNF1A_ENST00000544413.1_Missense_Mutation_p.T554S|HNF1A_ENST00000541395.1_Missense_Mutation_p.T578S|RP11-216P16.2_ENST00000606238.1_RNA			P20823	HNF1A_HUMAN	HNF1 homeobox A	547					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACCTCAGACACTGAGGCCTCC	0.687									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221						c.(1639-1641)aCt>aGt		HNF1 homeobox A							31.0	32.0	32.0					12																	121437302		2203	4299	6502	SO:0001583	missense	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121437302C>G	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1640C>G	12.37:g.121437302C>G	ENSP00000257555:p.Thr547Ser					HNF1A_ENST00000541395.1_Missense_Mutation_p.T578S|HNF1A_ENST00000544413.1_Missense_Mutation_p.T554S	p.T547S			P20823	HNF1A_HUMAN			9	1866	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		547					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	c.1640C>G	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	C	1.456	-0.563656	0.03939	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000537424;ENST00000543027;ENST00000541395;ENST00000544413	D;D;D	0.90444	-2.67;-2.67;-2.67	5.8	4.91	0.64330	Hepatocyte nuclear factor 1, alpha isoform C-terminal (1);	0.681076	0.13718	N	0.367582	T	0.77745	0.4176	N	0.04508	-0.205	0.30773	N	0.742868	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.63323	-0.6663	10	0.05525	T	0.97	-0.0104	13.7572	0.62943	0.1536:0.8464:0.0:0.0	.	554;547	F5H0K0;P20823	.;HNF1A_HUMAN	S	547;439;547;368;578;554	ENSP00000257555:T547S;ENSP00000443112:T578S;ENSP00000438804:T554S	ENSP00000257555:T547S	T	+	2	0	HNF1A	119921685	0.021000	0.18746	0.002000	0.10522	0.598000	0.36846	2.969000	0.49232	1.431000	0.47355	0.650000	0.86243	ACT		0.687	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		6	44	0	0	0	1	0	6	44				
SRGAP3	9901	broad.mit.edu	37	3	9036108	9036108	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:9036108C>T	ENST00000383836.3	-	19	2754	c.2327G>A	c.(2326-2328)cGc>cAc	p.R776H	SRGAP3_ENST00000360413.3_Missense_Mutation_p.R752H	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	776	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CTCCGAGGCGCGGTGGTACAG	0.587			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2326-2328)cGc>cAc		SLIT-ROBO Rho GTPase activating protein 3							77.0	77.0	77.0					3																	9036108		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9036108C>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2327G>A	3.37:g.9036108C>T	ENSP00000373347:p.Arg776His					SRGAP3_ENST00000360413.3_Missense_Mutation_p.R752H	p.R776H	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	19	2754	-			776			SH3.		Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.2327G>A	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487054	0.96323	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.51071	0.72;0.72	4.95	4.95	0.65309	Src homology-3 domain (4);	0.117842	0.56097	D	0.000040	T	0.71846	0.3388	M	0.82716	2.605	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.979	T	0.77236	-0.2662	10	0.87932	D	0	.	18.1343	0.89612	0.0:1.0:0.0:0.0	.	752;776	O43295-2;O43295	.;SRGP2_HUMAN	H	776;752	ENSP00000373347:R776H;ENSP00000353587:R752H	ENSP00000353587:R752H	R	-	2	0	SRGAP3	9011108	1.000000	0.71417	0.967000	0.41034	0.982000	0.71751	7.710000	0.84655	2.433000	0.82419	0.650000	0.86243	CGC		0.587	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			11	88	0	0	0	1	0	11	88				
CLDN16	10686	broad.mit.edu	37	3	190122681	190122681	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:190122681C>T	ENST00000264734.2	+	3	806	c.558C>T	c.(556-558)atC>atT	p.I186I	CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	186					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		AAGTCCGCATCTGCTTTGTTG	0.507																																						ENST00000264734.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19						c.(556-558)atC>atT		claudin 16							152.0	137.0	142.0					3																	190122681		2203	4300	6503	SO:0001819	synonymous_variant	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190122681C>T	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.558C>T	3.37:g.190122681C>T						CLDN16_ENST00000456423.1_Intron|CLDN16_ENST00000468220.1_3'UTR	p.I186I	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	3	806	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		186						Silent	SNP	ENST00000264734.2	37	c.558C>T	CCDS3296.1																																																																																				0.507	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		7	45	0	0	0	1	0	7	45				
KIAA1211L	343990	broad.mit.edu	37	2	99438684	99438684	+	Silent	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr2:99438684G>C	ENST00000397899.2	-	7	2383	c.2052C>G	c.(2050-2052)gtC>gtG	p.V684V		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	684																	ACCGGAGCTTGACGGGGAAGG	0.667																																						ENST00000397899.2																			0											c.(2050-2052)gtC>gtG		KIAA1211-like							34.0	37.0	36.0					2																	99438684		1968	4139	6107	SO:0001819	synonymous_variant	343990							g.chr2:99438684G>C	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2052C>G	2.37:g.99438684G>C							p.V684V	NM_207362.2	NP_997245.2					7	2383	-									Silent	SNP	ENST00000397899.2	37	c.2052C>G	CCDS42720.1																																																																																				0.667	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362		3	12	0	0	0	1	0	3	12				
ERAP2	64167	broad.mit.edu	37	5	96235857	96235857	+	Silent	SNP	A	A	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:96235857A>G	ENST00000437043.3	+	10	2247	c.1536A>G	c.(1534-1536)ggA>ggG	p.G512G	ERAP2_ENST00000379904.4_Silent_p.G467G|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000515095.1_3'UTR	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	512					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CATCTGGTGGAGTTTGTCATT	0.408																																						ENST00000437043.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24						c.(1534-1536)ggA>ggG		endoplasmic reticulum aminopeptidase 2							263.0	239.0	247.0					5																	96235857		2203	4300	6503	SO:0001819	synonymous_variant	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96235857A>G	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.1536A>G	5.37:g.96235857A>G						CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000515095.1_3'UTR|ERAP2_ENST00000379904.4_Silent_p.G467G	p.G512G	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	10	2247	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	512					Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Silent	SNP	ENST00000437043.3	37	c.1536A>G	CCDS4086.1																																																																																				0.408	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		6	51	0	0	0	1	0	6	51				
SVIL	6840	broad.mit.edu	37	10	29776152	29776152	+	Silent	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:29776152G>C	ENST00000355867.4	-	24	5177	c.4425C>G	c.(4423-4425)ctC>ctG	p.L1475L	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Silent_p.L389L|SVIL_ENST00000538146.1_Silent_p.L267L|SVIL_ENST00000375398.2_Silent_p.L1475L|SVIL_ENST00000375400.3_Silent_p.L1049L	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1475	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGTGGGGAGAGAGCAGGAGGA	0.517																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(4423-4425)ctC>ctG		supervillin							70.0	62.0	65.0					10																	29776152		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29776152G>C	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4425C>G	10.37:g.29776152G>C						SVIL_ENST00000535393.1_Silent_p.L389L|SVIL_ENST00000538146.1_Silent_p.L267L|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000355867.4_Silent_p.L1475L|SVIL_ENST00000375400.3_Silent_p.L1049L	p.L1475L			O95425	SVIL_HUMAN			26	4874	-		Breast(68;0.103)	1475			Interaction with NEB.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.4425C>G	CCDS7164.1																																																																																				0.517	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			3	23	0	0	0	1	0	3	23				
TACSTD2	4070	broad.mit.edu	37	1	59041876	59041876	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:59041876C>G	ENST00000371225.2	-	1	1290	c.953G>C	c.(952-954)aGa>aCa	p.R318T		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	318					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					CGGTTCCTTTCTCAACTCCCC	0.602																																						ENST00000371225.2																			0											c.(952-954)aGa>aCa		tumor-associated calcium signal transducer 2							68.0	64.0	65.0					1																	59041876		2203	4300	6503	SO:0001583	missense	4070				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity	g.chr1:59041876C>G	X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.953G>C	1.37:g.59041876C>G	ENSP00000360269:p.Arg318Thr						p.R318T	NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN			1	1290	-	all_cancers(7;6.54e-05)		318					Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Missense_Mutation	SNP	ENST00000371225.2	37	c.953G>C	CCDS609.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896114	0.33442	.	.	ENSG00000184292	ENST00000371225	T	0.77229	-1.08	4.85	2.76	0.32466	.	1.044210	0.07441	N	0.897233	T	0.67590	0.2909	L	0.54323	1.7	0.33350	D	0.570994	B	0.33694	0.421	B	0.22753	0.041	T	0.68416	-0.5414	10	0.39692	T	0.17	-10.4386	4.1709	0.10329	0.0:0.5544:0.0:0.4456	.	318	P09758	TACD2_HUMAN	T	318	ENSP00000360269:R318T	ENSP00000360269:R318T	R	-	2	0	TACSTD2	58814464	0.378000	0.25114	0.991000	0.47740	0.998000	0.95712	0.478000	0.22212	1.160000	0.42584	0.655000	0.94253	AGA		0.602	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027818.1	NM_002353		3	24	0	0	0	1	0	3	24				
CCDC60	160777	broad.mit.edu	37	12	119978475	119978475	+	Missense_Mutation	SNP	G	G	C	rs150338593		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:119978475G>C	ENST00000327554.2	+	14	2073	c.1608G>C	c.(1606-1608)caG>caC	p.Q536H	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	536										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GCTGGCTGCAGAGCCGGATCA	0.512																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1606-1608)caG>caC		coiled-coil domain containing 60							128.0	118.0	121.0					12																	119978475		2203	4300	6503	SO:0001583	missense	160777							g.chr12:119978475G>C	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1608G>C	12.37:g.119978475G>C	ENSP00000333374:p.Gln536His					RP11-768F21.1_ENST00000509470.2_lincRNA	p.Q536H	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	14	2073	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		536						Missense_Mutation	SNP	ENST00000327554.2	37	c.1608G>C	CCDS9190.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321568	0.41096	.	.	ENSG00000183273	ENST00000327554	T	0.25414	1.8	5.4	3.55	0.40652	.	0.321511	0.26460	N	0.024243	T	0.42108	0.1188	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	D	0.63381	0.914	T	0.26155	-1.0111	9	.	.	.	-30.7749	9.5991	0.39591	0.1678:0.0:0.8322:0.0	.	536	Q8IWA6	CCD60_HUMAN	H	536	ENSP00000333374:Q536H	.	Q	+	3	2	CCDC60	118462858	0.924000	0.31332	0.951000	0.38953	0.105000	0.19272	1.281000	0.33214	1.521000	0.48983	0.655000	0.94253	CAG		0.512	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		11	58	0	0	0	1	0	11	58				
ARHGAP31	57514	broad.mit.edu	37	3	119133479	119133479	+	Silent	SNP	C	C	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:119133479C>A	ENST00000264245.4	+	12	3235	c.2703C>A	c.(2701-2703)ggC>ggA	p.G901G		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	901					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CCCAGCATGGCCTGGAGATGG	0.567																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(2701-2703)ggC>ggA		Rho GTPase activating protein 31							98.0	103.0	101.0					3																	119133479		2059	4204	6263	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119133479C>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2703C>A	3.37:g.119133479C>A							p.G901G	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	3235	+			901					Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.2703C>A	CCDS43135.1																																																																																				0.567	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			13	74	1	0	2.27111e-07	1	2.45237e-07	13	74				
SYNDIG1L	646658	broad.mit.edu	37	14	74874295	74874295	+	Silent	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:74874295G>C	ENST00000554823.1	-	3	721	c.660C>G	c.(658-660)ctC>ctG	p.L220L	SYNDIG1L_ENST00000331628.3_Silent_p.L220L			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	220					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CAGCCACGTAGAGACCGGCCC	0.657																																						ENST00000331628.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						c.(658-660)ctC>ctG		synapse differentiation inducing 1-like							61.0	75.0	70.0					14																	74874295		2132	4260	6392	SO:0001819	synonymous_variant	646658				response to biotic stimulus	Golgi apparatus|integral to membrane		g.chr14:74874295G>C		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"""caudate-and putamen-enriched sequence"", ""interferon induced transmembrane protein domain containing 4"""	609999	"""transmembrane protein 90A"""	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.660C>G	14.37:g.74874295G>C						SYNDIG1L_ENST00000554823.1_Silent_p.L220L	p.L220L	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN			4	907	-			220						Silent	SNP	ENST00000554823.1	37	c.660C>G	CCDS41970.1																																																																																				0.657	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412341.1	XM_938515		14	93	0	0	0	1	0	14	93				
DAZAP1	26528	broad.mit.edu	37	19	1428915	1428915	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:1428915G>A	ENST00000233078.4	+	8	782	c.621G>A	c.(619-621)ggG>ggA	p.G207G	DAZAP1_ENST00000336761.6_Silent_p.G207G	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	207					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GCCAGTGGGGGAGCCGGGTTG	0.637																																						ENST00000336761.6																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9						c.(619-621)ggG>ggA		DAZ associated protein 1							27.0	35.0	33.0					19																	1428915		2201	4298	6499	SO:0001819	synonymous_variant	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1428915G>A		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.621G>A	19.37:g.1428915G>A						DAZAP1_ENST00000233078.4_Silent_p.G207G	p.G207G	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_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)	8	826	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	207					Q96MJ3|Q9NRR9	Silent	SNP	ENST00000233078.4	37	c.621G>A	CCDS12065.1																																																																																				0.637	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		12	49	0	0	0	1	0	12	49				
KCNU1	157855	broad.mit.edu	37	8	36793355	36793355	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:36793355G>C	ENST00000399881.3	+	27	3404	c.3367G>C	c.(3367-3369)Ggt>Cgt	p.G1123R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1123					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GATACCTTTAGGTGACAATGC	0.383																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(3367-3369)Ggt>Cgt		potassium channel, subfamily U, member 1							108.0	107.0	107.0					8																	36793355		1868	4103	5971	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36793355G>C	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.3367G>C	8.37:g.36793355G>C	ENSP00000382770:p.Gly1123Arg						p.G1123R	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	27	3404	+			1123						Missense_Mutation	SNP	ENST00000399881.3	37	c.3367G>C	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390255	0.25118	.	.	ENSG00000215262	ENST00000399881	T	0.35973	1.28	4.59	0.714	0.18180	.	.	.	.	.	T	0.20820	0.0501	L	0.29908	0.895	0.09310	N	1	P	0.37015	0.578	B	0.33042	0.157	T	0.13710	-1.0499	9	0.51188	T	0.08	.	3.2844	0.06926	0.2973:0.0:0.5188:0.1839	.	1123	A8MYU2	KCNU1_HUMAN	R	1123	ENSP00000382770:G1123R	ENSP00000382770:G1123R	G	+	1	0	KCNU1	36912513	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.090000	0.15025	0.013000	0.14918	0.655000	0.94253	GGT		0.383	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		17	39	0	0	0	1	0	17	39				
CHL1	10752	broad.mit.edu	37	3	439980	439980	+	Silent	SNP	G	G	A	rs199842549		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:439980G>A	ENST00000256509.2	+	25	3807	c.3165G>A	c.(3163-3165)ccG>ccA	p.P1055P	CHL1_ENST00000397491.2_Silent_p.P1039P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TATTTGAGCCGGGAGCTGAAC	0.388																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(3163-3165)ccG>ccA		cell adhesion molecule L1-like							74.0	73.0	73.0					3																	439980		2203	4300	6503	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:439980G>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3165G>A	3.37:g.439980G>A						CHL1_ENST00000397491.2_Silent_p.P1039P	p.P1055P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	25	3807	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	1039					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.3165G>A	CCDS2556.1																																																																																				0.388	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		4	38	0	0	0	1	0	4	38				
FKBP5	2289	broad.mit.edu	37	6	35544827	35544827	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:35544827G>A	ENST00000539068.1	-	10	1412	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	FKBP5_ENST00000536438.1_Missense_Mutation_p.R404W|FKBP5_ENST00000357266.4_Missense_Mutation_p.R404W|FKBP5_ENST00000540787.1_Missense_Mutation_p.R225W	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	404					chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CTGCGGTCCCGCTCGTTGTGC	0.522																																						ENST00000536438.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						c.(1210-1212)Cgg>Tgg		FK506 binding protein 5							253.0	174.0	201.0					6																	35544827		2203	4300	6503	SO:0001583	missense	2289				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:35544827G>A	U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"""Tetratricopeptide (TTC) repeat domain containing"""	3721	protein-coding gene	gene with protein product		602623	"""FK506-binding protein 5"""			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.1210C>T	6.37:g.35544827G>A	ENSP00000441205:p.Arg404Trp					FKBP5_ENST00000357266.4_Missense_Mutation_p.R404W|FKBP5_ENST00000540787.1_Missense_Mutation_p.R225W|FKBP5_ENST00000539068.1_Missense_Mutation_p.R404W	p.R404W	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN			11	1525	-			404					F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	ENST00000539068.1	37	c.1210C>T	CCDS4808.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438740	0.83885	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000540787;ENST00000543400	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.63	3.79	0.43588	.	0.293558	0.33631	N	0.004701	T	0.77011	0.4068	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.80317	-0.1433	10	0.87932	D	0	-18.977	14.7468	0.69494	0.0:0.0:0.7362:0.2638	.	404	Q13451	FKBP5_HUMAN	W	404;404;404;404;225;367	ENSP00000444810:R404W;ENSP00000349811:R404W;ENSP00000441205:R404W;ENSP00000445412:R225W	ENSP00000338160:R404W	R	-	1	2	FKBP5	35652805	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.064000	0.49986	0.679000	0.31345	0.655000	0.94253	CGG		0.522	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040309.2			13	80	0	0	0	1	0	13	80				
IGBP1	3476	broad.mit.edu	37	X	69354494	69354494	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:69354494C>T	ENST00000342206.6	+	2	809	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	IGBP1_ENST00000356413.4_Missense_Mutation_p.R104W			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	104	Interaction with PPP2CA.				B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						TCATTTGCAGCGGGCTCGAGA	0.473																																					NSCLC(167;1189 1558 6576 8216 30387 37980 41450)	ENST00000342206.6																			0				kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						c.(310-312)Cgg>Tgg		immunoglobulin (CD79A) binding protein 1							63.0	56.0	58.0					X																	69354494		2203	4300	6503	SO:0001583	missense	3476				B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity	g.chrX:69354494C>T	Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"""alpha 4"""	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.310C>T	X.37:g.69354494C>T	ENSP00000363661:p.Arg104Trp					IGBP1_ENST00000356413.4_Missense_Mutation_p.R104W	p.R104W			P78318	IGBP1_HUMAN			2	809	+			104					Q8TAB2	Missense_Mutation	SNP	ENST00000342206.6	37	c.310C>T	CCDS14396.1	.	.	.	.	.	.	.	.	.	.	.	12.00	1.806773	0.31961	.	.	ENSG00000089289	ENST00000342206;ENST00000356413	T;T	0.45668	0.89;0.89	4.91	-3.19	0.05171	.	1.348490	0.04536	N	0.387298	T	0.23611	0.0571	N	0.20401	0.57	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.19418	-1.0306	10	0.56958	D	0.05	.	0.9939	0.01462	0.2487:0.3408:0.2454:0.1651	.	104	P78318	IGBP1_HUMAN	W	104	ENSP00000363661:R104W;ENSP00000348784:R104W	ENSP00000363661:R104W	R	+	1	2	IGBP1	69271219	0.106000	0.21978	0.009000	0.14445	0.799000	0.45148	0.499000	0.22546	-0.476000	0.06842	0.600000	0.82982	CGG		0.473	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057052.1			11	41	0	0	0	1	0	11	41				
DLG4	1742	broad.mit.edu	37	17	7111543	7111543	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:7111543C>G	ENST00000399506.2	-	2	237	c.46G>C	c.(46-48)Gat>Cat	p.D16H	DLG4_ENST00000485100.1_Missense_Mutation_p.D16H|DLG4_ENST00000302955.6_Missense_Mutation_p.D16H|DLG4_ENST00000399510.2_Missense_Mutation_p.D59H			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	16					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GTGTCTTCATCTTGGTAGCGG	0.687																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(175-177)Gat>Cat		discs, large homolog 4 (Drosophila)							91.0	104.0	100.0					17																	7111543		1947	4122	6069	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7111543C>G	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.46G>C	17.37:g.7111543C>G	ENSP00000382425:p.Asp16His					DLG4_ENST00000485100.1_Missense_Mutation_p.D16H|DLG4_ENST00000399506.2_Missense_Mutation_p.D16H|DLG4_ENST00000302955.6_Missense_Mutation_p.D16H	p.D59H	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			4	1027	-			16					B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.175G>C		.	.	.	.	.	.	.	.	.	.	C	22.7	4.323294	0.81580	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000539674;ENST00000451807;ENST00000447163	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	4.18	4.18	0.49190	.	.	.	.	.	T	0.71187	0.3310	M	0.77313	2.365	0.43095	D	0.994775	B;P;D;D	0.63046	0.228;0.591;0.992;0.988	B;P;D;P	0.73380	0.432;0.631;0.98;0.856	T	0.75216	-0.3396	9	0.54805	T	0.06	.	14.0071	0.64470	0.0:1.0:0.0:0.0	.	59;16;16;59	B9EGL1;G5E939;O14909;P78352-2	.;.;.;.	H	16;16;59;59;59;16;16	ENSP00000382425:D16H;ENSP00000307471:D16H;ENSP00000382428:D59H;ENSP00000388122:D16H	ENSP00000293813:D59H	D	-	1	0	DLG4	7052267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.166000	0.64965	2.144000	0.66660	0.491000	0.48974	GAT		0.687	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		20	129	0	0	0	1	0	20	129				
CHD8	57680	broad.mit.edu	37	14	21860805	21860805	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:21860805G>C	ENST00000557364.1	-	34	6895	c.6632C>G	c.(6631-6633)tCt>tGt	p.S2211C	CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Missense_Mutation_p.S1932C|CHD8_ENST00000399982.2_Missense_Mutation_p.S2211C|SNORD9_ENST00000362566.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2211					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGGGACTGGAGAGTCACCATA	0.547																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(6631-6633)tCt>tGt		chromodomain helicase DNA binding protein 8																																				SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21860805G>C	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6632C>G	14.37:g.21860805G>C	ENSP00000451601:p.Ser2211Cys					CHD8_ENST00000557364.1_Missense_Mutation_p.S2211C|CHD8_ENST00000430710.3_Missense_Mutation_p.S1932C	p.S2211C	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	33	6696	-	all_cancers(95;0.00121)		2211					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.6632C>G	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887620	0.52014	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364;ENST00000553870	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.27	5.27	0.74061	.	0.305417	0.32970	N	0.005433	T	0.70124	0.3188	L	0.29908	0.895	0.48135	D	0.999599	D	0.69078	0.997	P	0.57548	0.823	T	0.70662	-0.4810	10	0.51188	T	0.08	-11.7164	11.2644	0.49101	0.0841:0.0:0.9159:0.0	.	1932	Q9HCK8-2	.	C	1932;2211;1931;2211;48	ENSP00000406288:S1932C;ENSP00000382863:S2211C;ENSP00000451601:S2211C;ENSP00000451071:S48C	ENSP00000262707:S1931C	S	-	2	0	CHD8	20930645	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.319000	0.72871	2.729000	0.93468	0.561000	0.74099	TCT		0.547	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		11	86	0	0	0	1	0	11	86				
ATG14	22863	broad.mit.edu	37	14	55878349	55878349	+	Missense_Mutation	SNP	G	G	T	rs556057378		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:55878349G>T	ENST00000247178.5	-	1	227	c.192C>A	c.(190-192)ttC>ttA	p.F64L		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	64					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CGAAGTAGACGAAATCGCCGC	0.657																																						ENST00000247178.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(190-192)ttC>ttA		autophagy related 14							14.0	17.0	16.0					14																	55878349		2196	4295	6491	SO:0001583	missense	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55878349G>T	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.192C>A	14.37:g.55878349G>T	ENSP00000247178:p.Phe64Leu						p.F64L	NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN			1	227	-			64					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Missense_Mutation	SNP	ENST00000247178.5	37	c.192C>A	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015886	0.75161	.	.	ENSG00000126775	ENST00000247178	T	0.40476	1.03	5.27	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	L	0.57536	1.79	0.58432	D	0.999997	D	0.76494	0.999	D	0.80764	0.994	T	0.57991	-0.7715	10	0.40728	T	0.16	-23.1525	13.3679	0.60696	0.0756:0.0:0.9244:0.0	.	64	Q6ZNE5	BAKOR_HUMAN	L	64	ENSP00000247178:F64L	ENSP00000247178:F64L	F	-	3	2	ATG14	54948102	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.652000	0.54439	1.459000	0.47892	0.655000	0.94253	TTC		0.657	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		4	15	1	0	2.56e-06	1	2.71336e-06	4	15				
KRT16P6	353194	broad.mit.edu	37	17	16722266	16722266	+	RNA	SNP	C	C	T	rs2656363	byFrequency	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:16722266C>T	ENST00000602730.1	+	0	6486				AC022596.6_ENST00000417510.1_RNA																							TGGGCATCCTCGCCCTCCAGC	0.592													N|||	775	0.154752	0.0613	0.2378	5008	,	,		18639	0.0456		0.2903	False		,,,				2504	0.1953					ENST00000417510.1																			0																																																			353194							g.chr17:16722266C>T																													17.37:g.16722266C>T														0	1464	-									RNA	SNP	ENST00000602730.1	37																																																																																						0.592	RP11-219A15.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000468034.1			4	62	0	0	0	1	0	4	62				
FLNA	2316	broad.mit.edu	37	X	153590634	153590634	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:153590634C>T	ENST00000369850.3	-	18	2868	c.2632G>A	c.(2632-2634)Gag>Aag	p.E878K	FLNA_ENST00000360319.4_Missense_Mutation_p.E878K|FLNA_ENST00000422373.1_Missense_Mutation_p.E878K|FLNA_ENST00000344736.4_Missense_Mutation_p.E878K	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	878					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGGGCCCTCGGCCTTCACC	0.652																																						ENST00000422373.1																			0				breast(6)	6						c.(2632-2634)Gag>Aag		filamin A, alpha							66.0	69.0	68.0					X																	153590634		2075	4181	6256	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153590634C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2632G>A	X.37:g.153590634C>T	ENSP00000358866:p.Glu878Lys					FLNA_ENST00000369850.3_Missense_Mutation_p.E878K|FLNA_ENST00000344736.4_Missense_Mutation_p.E878K|FLNA_ENST00000360319.4_Missense_Mutation_p.E878K	p.E878K	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			18	2880	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		878					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.2632G>A	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679311	0.88542	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	4.91	4.91	0.64330	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.070934	0.53938	D	0.000056	D	0.90484	0.7019	L	0.53617	1.68	0.80722	D	1	P;D	0.76494	0.928;0.999	B;D	0.73708	0.38;0.981	D	0.91378	0.5125	10	0.62326	D	0.03	.	17.5374	0.87835	0.0:1.0:0.0:0.0	.	878;878	P21333-2;P21333	.;FLNA_HUMAN	K	878;851;878;878;878	ENSP00000353467:E878K;ENSP00000416926:E878K;ENSP00000358866:E878K;ENSP00000358863:E878K	ENSP00000358863:E878K	E	-	1	0	FLNA	153243828	1.000000	0.71417	0.900000	0.35374	0.922000	0.55478	7.715000	0.84713	2.156000	0.67533	0.529000	0.55759	GAG		0.652	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			13	89	0	0	0	1	0	13	89				
ST18	9705	broad.mit.edu	37	8	53071513	53071513	+	Missense_Mutation	SNP	C	C	T	rs200417136	byFrequency	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:53071513C>T	ENST00000276480.7	-	15	2434	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	584					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R584H(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTCCCTGCAGCGGGTGGAAAG	0.592													C|||	2	0.000399361	0.0	0.0	5008	,	,		14818	0.002		0.0	False		,,,				2504	0.0					ENST00000276480.7																			1	Substitution - Missense(1)	p.R584H(1)	large_intestine(1)	NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1750-1752)cGc>cAc		suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							107.0	113.0	111.0					8																	53071513		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53071513C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1751G>A	8.37:g.53071513C>T	ENSP00000276480:p.Arg584His						p.R584H	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			15	2434	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	584					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1751G>A	CCDS6149.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	19.46	3.831179	0.71258	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.60920	0.15;0.15	6.08	6.08	0.98989	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	M	0.83223	2.63	0.80722	D	1	P;P	0.38767	0.641;0.646	B;B	0.36244	0.165;0.22	T	0.67925	-0.5544	10	0.66056	D	0.02	-20.4449	14.7703	0.69671	0.0:0.9316:0.0:0.0684	.	584;584	E5RHS3;O60284	.;ST18_HUMAN	H	584	ENSP00000276480:R584H;ENSP00000428521:R584H	ENSP00000276480:R584H	R	-	2	0	ST18	53234066	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	5.774000	0.68906	2.894000	0.99253	0.655000	0.94253	CGC		0.592	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			28	108	0	0	0	1	0	28	108				
CDK20	23552	broad.mit.edu	37	9	90588899	90588899	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:90588899C>G	ENST00000325303.8	-	2	432	c.127G>C	c.(127-129)Ggc>Cgc	p.G43R	CDK20_ENST00000375883.3_Missense_Mutation_p.G43R|CDK20_ENST00000336654.5_Missense_Mutation_p.G56R|CDK20_ENST00000605159.1_Missense_Mutation_p.G43R|CDK20_ENST00000375871.4_Missense_Mutation_p.G43R	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	43	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cell division (GO:0051301)|multicellular organismal development (GO:0007275)	cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			skin(1)	1						TTAGGGAAGCCGTCCTCCAAC	0.587																																						ENST00000375883.3																			0				skin(1)	1						c.(127-129)Ggc>Cgc		cyclin-dependent kinase 20							113.0	111.0	112.0					9																	90588899		2203	4300	6503	SO:0001583	missense	23552				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr9:90588899C>G	AF035013	CCDS6677.1, CCDS6678.1, CCDS35060.1, CCDS55324.1, CCDS65075.1	9q22.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000156345	ENSG00000156345		"""Cyclin-dependent kinases"""	21420	protein-coding gene	gene with protein product		610076	"""cell cycle related kinase"""	CCRK		19884882	Standard	NM_178432		Approved	p42	uc004apr.3	Q8IZL9	OTTHUMG00000020161	ENST00000325303.8:c.127G>C	9.37:g.90588899C>G	ENSP00000322343:p.Gly43Arg					CDK20_ENST00000325303.8_Missense_Mutation_p.G43R|CDK20_ENST00000605159.1_Missense_Mutation_p.G43R|CDK20_ENST00000375871.4_Missense_Mutation_p.G43R|CDK20_ENST00000336654.5_Missense_Mutation_p.G56R	p.G43R	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN			2	433	-			43			Protein kinase.		A2A389|A2A390|B4DQX1|O95137|Q5EDC4|Q5VYW1|Q9BUF4	Missense_Mutation	SNP	ENST00000325303.8	37	c.127G>C	CCDS35060.1	.	.	.	.	.	.	.	.	.	.	.	19.07	3.756279	0.69648	.	.	ENSG00000156345	ENST00000375883;ENST00000336654;ENST00000375871;ENST00000325303;ENST00000286878	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	4.55	4.55	0.56014	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	0.77545	0.4146	M	0.73430	2.235	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;1.0;0.987	D;D;D;P	0.97110	0.947;1.0;0.997;0.906	T	0.80525	-0.1344	10	0.87932	D	0	-28.6196	13.1841	0.59672	0.0:1.0:0.0:0.0	.	43;56;43;43	Q8IZL9-2;A2A390;E7EQ88;Q8IZL9	.;.;.;CDK20_HUMAN	R	43;56;43;43;43	ENSP00000365043:G43R;ENSP00000338975:G56R;ENSP00000365031:G43R;ENSP00000322343:G43R	ENSP00000286878:G43R	G	-	1	0	CDK20	89778719	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	5.869000	0.69613	2.260000	0.74910	0.555000	0.69702	GGC		0.587	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214996.1	NM_012119		4	64	0	0	0	1	0	4	64				
ABCC10	89845	broad.mit.edu	37	6	43415659	43415659	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:43415659G>C	ENST00000372530.4	+	18	4158	c.3943G>C	c.(3943-3945)Gag>Cag	p.E1315Q	ABCC10_ENST00000244533.3_Missense_Mutation_p.E1287Q	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1315	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CAGCCAGCTGGAGCTGGCCCA	0.612																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3859-3861)Gag>Cag		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							28.0	30.0	29.0					6																	43415659		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415659G>C	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3943G>C	6.37:g.43415659G>C	ENSP00000361608:p.Glu1315Gln					ABCC10_ENST00000372530.4_Missense_Mutation_p.E1315Q	p.E1287Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		16	4218	+	all_lung(25;0.00536)		1315			ABC transporter 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.3859G>C	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444592	0.43429	.	.	ENSG00000124574	ENST00000372530;ENST00000244533;ENST00000443394	D;D	0.90563	-2.69;-2.69	5.45	3.61	0.41365	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.269972	0.35407	N	0.003226	T	0.71400	0.3335	N	0.16478	0.41	0.34295	D	0.683701	B;B	0.06786	0.001;0.001	B;B	0.10450	0.002;0.005	T	0.63637	-0.6592	10	0.59425	D	0.04	-0.069	9.3162	0.37934	0.0738:0.302:0.6242:0.0	.	1287;1315	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	Q	1315;1287;66	ENSP00000361608:E1315Q;ENSP00000244533:E1287Q	ENSP00000244533:E1287Q	E	+	1	0	ABCC10	43523637	1.000000	0.71417	0.998000	0.56505	0.794000	0.44872	6.163000	0.71880	0.614000	0.30107	0.467000	0.42956	GAG		0.612	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		4	31	0	0	0	1	0	4	31				
RSAD1	55316	broad.mit.edu	37	17	48559617	48559617	+	Nonsense_Mutation	SNP	G	G	T	rs192363795		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:48559617G>T	ENST00000258955.2	+	4	725	c.640G>T	c.(640-642)Gaa>Taa	p.E214*		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	214					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCAGCTGCAGGAACTGCTGCA	0.687											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000258955.2																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(640-642)Gaa>Taa		radical S-adenosyl methionine domain containing 1							51.0	51.0	51.0					17																	48559617		2203	4299	6502	SO:0001587	stop_gained	55316				porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding	g.chr17:48559617G>T	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.640G>T	17.37:g.48559617G>T	ENSP00000258955:p.Glu214*		OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	955		p.E214*	NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		4	725	+	Breast(11;1.93e-18)		214					B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Nonsense_Mutation	SNP	ENST00000258955.2	37	c.640G>T	CCDS11569.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635629	0.87760	.	.	ENSG00000136444	ENST00000258955	.	.	.	5.37	0.873	0.19118	.	0.502393	0.21107	N	0.080056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-0.5856	5.9494	0.19237	0.2193:0.2439:0.5368:0.0	.	.	.	.	X	214	.	ENSP00000258955:E214X	E	+	1	0	RSAD1	45914616	0.998000	0.40836	0.420000	0.26596	0.903000	0.53119	1.946000	0.40283	0.247000	0.21414	0.655000	0.94253	GAA		0.687	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367413.1	NM_018346		17	105	1	0	8.60227e-14	1	9.69864e-14	17	105				
PFDN6	10471	broad.mit.edu	37	6	33258544	33258544	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:33258544G>T	ENST00000395131.1	+	5	718	c.312G>T	c.(310-312)caG>caT	p.Q104H	PFDN6_ENST00000374606.5_Missense_Mutation_p.Q104H|PFDN6_ENST00000374610.2_Missense_Mutation_p.Q104H|RGL2_ENST00000437840.2_5'Flank|PFDN6_ENST00000374607.1_Missense_Mutation_p.Q104H|WDR46_ENST00000374617.4_5'Flank|WDR46_ENST00000477718.1_5'Flank|PFDN6_ENST00000463584.1_Intron			O15212	PFD6_HUMAN	prefoldin subunit 6	104					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(1)	2						CAGAGCAACAGAGGGAGACCC	0.592																																						ENST00000395131.1																			0				kidney(1)|large_intestine(1)	2						c.(310-312)caG>caT		prefoldin subunit 6							37.0	36.0	36.0					6																	33258544		2203	4299	6502	SO:0001583	missense	10471				'de novo' posttranslational protein folding|chaperone-mediated protein complex assembly	prefoldin complex	chaperone binding|unfolded protein binding	g.chr6:33258544G>T	BC039033	CCDS4773.1	6p21.3	2006-02-24	2006-02-24	2006-02-24	ENSG00000204220	ENSG00000204220			4926	protein-coding gene	gene with protein product		605660	"""HLA class II region expressed gene KE2"", ""prefoldin 6"""	HKE2		9545376, 9630229	Standard	NM_001185181		Approved	KE-2, H2-KE2, PFD6	uc031sny.1	O15212	OTTHUMG00000031247	ENST00000395131.1:c.312G>T	6.37:g.33258544G>T	ENSP00000378563:p.Gln104His					PFDN6_ENST00000374606.5_Missense_Mutation_p.Q104H|PFDN6_ENST00000374607.1_Missense_Mutation_p.Q104H|PFDN6_ENST00000374610.2_Missense_Mutation_p.Q104H|PFDN6_ENST00000463584.1_Intron	p.Q104H			O15212	PFD6_HUMAN			5	718	+			104						Missense_Mutation	SNP	ENST00000395131.1	37	c.312G>T	CCDS4773.1	.	.	.	.	.	.	.	.	.	.	G	2.720	-0.266784	0.05754	.	.	ENSG00000204220	ENST00000395131;ENST00000374606;ENST00000374610;ENST00000374607	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.48	2.56	0.30785	Prefoldin beta-like (1);Prefoldin (1);	0.125415	0.53938	D	0.000055	T	0.06872	0.0175	N	0.10645	0.015	0.41134	D	0.985907	B	0.09022	0.002	B	0.11329	0.006	T	0.17776	-1.0358	10	0.11485	T	0.65	.	6.1521	0.20318	0.31:0.0:0.69:0.0	.	104	O15212	PFD6_HUMAN	H	104	ENSP00000378563:Q104H;ENSP00000363734:Q104H;ENSP00000363738:Q104H;ENSP00000363735:Q104H	ENSP00000363734:Q104H	Q	+	3	2	PFDN6	33366522	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.007000	0.29860	0.882000	0.36016	-0.148000	0.13756	CAG		0.592	PFDN6-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276361.1	NM_014260		5	17	1	0	5.9392e-07	1	6.38325e-07	5	17				
HRAS	3265	broad.mit.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	C	A	rs104894226		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:534285C>A	ENST00000451590.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000417302.1_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTGCCCACACCGCCGGCGCC	0.642		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		25	Substitution - Missense(24)|Insertion - In frame(1)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)	upper_aerodigestive_tract(9)|thyroid(5)|urinary_tract(5)|lung(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|thymus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901	GRCh37	CM053285	HRAS	M	rs104894226	c.(37-39)gGt>gTt		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						89.0	83.0	85.0					11																	534285		2202	4300	6502	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534285C>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.38G>T	11.37:g.534285C>A	ENSP00000407586:p.Gly13Val	HNSCC(11;0.0054)				HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR	p.G13V	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	225	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	13		G -> C (in FCSS).|G -> D (in FCSS).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.38G>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344392	0.61073	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	H	0.94264	3.515	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.69824	0.943;0.966	D	0.92025	0.5629	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	V	13	ENSP00000380722:G13V;ENSP00000380723:G13V;ENSP00000407586:G13V;ENSP00000388246:G13V;ENSP00000309845:G13V	ENSP00000309845:G13V	G	-	2	0	HRAS	524285	1.000000	0.71417	0.470000	0.27216	0.232000	0.25224	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		7	44	1	0	1.06961e-07	1	1.16593e-07	7	44				
COL4A2	1284	broad.mit.edu	37	13	111156284	111156284	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr13:111156284G>A	ENST00000360467.5	+	44	4535	c.4229G>A	c.(4228-4230)cGa>cAa	p.R1410Q	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1410	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGGGGAGGCGAGGCCCCCCT	0.731																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4228-4230)cGa>cAa		collagen, type IV, alpha 2							26.0	29.0	28.0					13																	111156284		1790	4054	5844	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111156284G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4229G>A	13.37:g.111156284G>A	ENSP00000353654:p.Arg1410Gln					COL4A2-AS1_ENST00000417970.2_RNA	p.R1410Q	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		44	4535	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1410			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.4229G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	3.583	-0.085247	0.07097	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.90788	-2.73	5.2	3.46	0.39613	.	0.516058	0.18184	N	0.149049	T	0.74703	0.3751	N	0.05467	-0.045	0.18873	N	0.999989	P	0.34837	0.472	B	0.34824	0.19	T	0.64351	-0.6428	10	0.11794	T	0.64	.	3.0877	0.06283	0.1583:0.1393:0.5588:0.1436	.	1410	P08572	CO4A2_HUMAN	Q	1410	ENSP00000353654:R1410Q	ENSP00000257309:R1410Q	R	+	2	0	COL4A2	109954285	0.079000	0.21365	0.992000	0.48379	0.418000	0.31294	0.248000	0.18198	1.192000	0.43071	0.561000	0.74099	CGA		0.731	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		8	42	0	0	0	1	0	8	42				
ATP5G2	517	broad.mit.edu	37	12	54070067	54070067	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:54070067G>T	ENST00000549164.1	-	0	115				ATP5G2_ENST00000338662.5_De_novo_Start_OutOfFrame|ATP5G2_ENST00000602871.1_5'Flank|ATP5G2_ENST00000394349.3_De_novo_Start_OutOfFrame			Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)						ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GCCGACTGCAGAAATGAGGCC	0.627											OREG0021876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338662.5																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6								ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)																																						517				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding	g.chr12:54070067G>T	X69908	CCDS8863.2, CCDS31812.1	12q13.13	2012-10-12	2010-06-11		ENSG00000135390	ENSG00000135390		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	842	protein-coding gene	gene with protein product		603193	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)"""			8328972	Standard	NM_005176		Approved		uc001sec.3	Q06055	OTTHUMG00000133442	ENST00000549164.1:c.-73C>A	12.37:g.54070067G>T			OREG0021876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	997	ATP5G2_ENST00000394349.3_De_novo_Start_OutOfFrame|ATP5G2_ENST00000549164.1_De_novo_Start_OutOfFrame		NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN			0	1115	-								B3KQQ6	Translation_Start_Site	SNP	ENST00000549164.1	37																																																																																						0.627	ATP5G2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000407403.1	NM_005176		5	28	1	0	1.23904e-05	1	1.30127e-05	5	28				
CCIN	881	broad.mit.edu	37	9	36170445	36170445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:36170445C>T	ENST00000335119.2	+	1	1057	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	316					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CATGCCCTATCGGGCAGCAGC	0.547																																						ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(946-948)Cgg>Tgg		calicin							76.0	73.0	74.0					9																	36170445		2203	4300	6503	SO:0001583	missense	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170445C>T	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.946C>T	9.37:g.36170445C>T	ENSP00000334996:p.Arg316Trp						p.R316W	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	1057	+			316					Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	c.946C>T	CCDS6599.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871398	0.33069	.	.	ENSG00000185972	ENST00000335119	T	0.67523	-0.27	5.97	1.55	0.23275	Kelch-type beta propeller (1);	0.148479	0.31347	N	0.007804	T	0.64034	0.2562	N	0.22421	0.69	0.09310	N	1	D	0.60575	0.988	P	0.57101	0.813	T	0.61143	-0.7122	10	0.87932	D	0	.	12.8187	0.57679	0.6643:0.3357:0.0:0.0	.	316	Q13939	CALI_HUMAN	W	316	ENSP00000334996:R316W	ENSP00000334996:R316W	R	+	1	2	CCIN	36160445	0.791000	0.28800	0.077000	0.20336	0.982000	0.71751	1.642000	0.37207	0.382000	0.24878	0.655000	0.94253	CGG		0.547	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		18	68	0	0	0	1	0	18	68				
VSIG2	23584	broad.mit.edu	37	11	124619673	124619673	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:124619673G>A	ENST00000326621.5	-	4	617	c.517C>T	c.(517-519)Cct>Tct	p.P173S	VSIG2_ENST00000403470.1_Missense_Mutation_p.P173S	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	173	Ig-like C2-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ACTGGCTTAGGAGCCCCCTCG	0.537																																						ENST00000403470.1																			0				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19						c.(517-519)Cct>Tct		V-set and immunoglobulin domain containing 2							90.0	88.0	88.0					11																	124619673		2201	4299	6500	SO:0001583	missense	23584					integral to plasma membrane|membrane fraction		g.chr11:124619673G>A	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.517C>T	11.37:g.124619673G>A	ENSP00000318684:p.Pro173Ser					VSIG2_ENST00000326621.5_Missense_Mutation_p.P173S	p.P173S			Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	4	572	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	173			Ig-like C2-type.		O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	c.517C>T	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.105123	0.77096	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.28454	1.61;1.61	5.5	5.5	0.81552	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.68063	0.2960	H	0.95294	3.65	0.44402	D	0.997311	D	0.89917	1.0	D	0.91635	0.999	T	0.76958	-0.2766	10	0.66056	D	0.02	.	16.4382	0.83889	0.0:0.0:1.0:0.0	.	173	Q96IQ7	VSIG2_HUMAN	S	173	ENSP00000318684:P173S;ENSP00000385013:P173S	ENSP00000318684:P173S	P	-	1	0	VSIG2	124124883	1.000000	0.71417	0.952000	0.39060	0.775000	0.43874	5.103000	0.64578	2.854000	0.98071	0.655000	0.94253	CCT		0.537	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		13	50	0	0	0	1	0	13	50				
CRYZL1	9946	broad.mit.edu	37	21	34968082	34968082	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr21:34968082C>T	ENST00000381554.3	-	11	944	c.859G>A	c.(859-861)Gat>Aat	p.D287N	CRYZL1_ENST00000290244.5_Missense_Mutation_p.D272N|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000361534.2_Missense_Mutation_p.D311N|CRYZL1_ENST00000445393.1_Intron|CRYZL1_ENST00000381540.3_Missense_Mutation_p.D287N|CRYZL1_ENST00000480893.1_5'UTR	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	287					quinone metabolic process (GO:1901661)	cytosol (GO:0005829)	NADP binding (GO:0050661)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)			lung(1)|prostate(1)|urinary_tract(1)	3						CAAACTTCATCATTCAGGAAA	0.368																																						ENST00000361534.2																			0				lung(1)|prostate(1)|urinary_tract(1)	3						c.(931-933)Gat>Aat		crystallin, zeta (quinone reductase)-like 1							120.0	113.0	116.0					21																	34968082		2203	4300	6503	SO:0001583	missense	9946				quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding	g.chr21:34968082C>T	AF029689	CCDS13633.2	21q22.1	2008-07-31			ENSG00000205758	ENSG00000205758			2420	protein-coding gene	gene with protein product	"""quinone reductase-like 1"""	603920				10191096	Standard	NM_145858		Approved	QOH-1, 4P11	uc021wio.1	O95825	OTTHUMG00000065954	ENST00000381554.3:c.859G>A	21.37:g.34968082C>T	ENSP00000370966:p.Asp287Asn					CRYZL1_ENST00000480893.1_5'UTR|CRYZL1_ENST00000381540.3_Missense_Mutation_p.D287N|CRYZL1_ENST00000381554.3_Missense_Mutation_p.D287N|CRYZL1_ENST00000290244.5_Missense_Mutation_p.D272N|CRYZL1_ENST00000445393.1_Intron|AP000304.12_ENST00000429238.1_Intron	p.D311N			O95825	QORL1_HUMAN			12	1070	-			287					B2RDX1|B3KQ77|Q96DY0|Q9NVY7	Missense_Mutation	SNP	ENST00000381554.3	37	c.931G>A	CCDS13633.2	.	.	.	.	.	.	.	.	.	.	C	36	5.631589	0.96682	.	.	ENSG00000205758	ENST00000381554;ENST00000290244;ENST00000381540;ENST00000361534	T;T;T;T	0.15487	2.52;2.48;2.42;2.44	5.85	5.85	0.93711	.	0.145662	0.64402	D	0.000011	T	0.21674	0.0522	L	0.51422	1.61	0.80722	D	1	P;P	0.44627	0.745;0.839	B;B	0.41088	0.209;0.347	T	0.00738	-1.1587	10	0.30078	T	0.28	-15.9493	20.1731	0.98165	0.0:1.0:0.0:0.0	.	287;311	O95825;A6NHJ8	QORL1_HUMAN;.	N	287;272;287;311	ENSP00000370966:D287N;ENSP00000290244:D272N;ENSP00000370951:D287N;ENSP00000355075:D311N	ENSP00000290244:D272N	D	-	1	0	CRYZL1	33889952	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	6.131000	0.71670	2.768000	0.95171	0.655000	0.94253	GAT		0.368	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2	NM_145858		9	26	0	0	0	1	0	9	26				
STK3	6788	broad.mit.edu	37	8	99591900	99591900	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:99591900C>G	ENST00000419617.2	-	8	1080	c.940G>C	c.(940-942)Gaa>Caa	p.E314Q	STK3_ENST00000523601.1_Missense_Mutation_p.E342Q	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	314	Poly-Glu.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		ACCGAATTTTCTTCTTCCTCT	0.318																																						ENST00000523601.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(1024-1026)Gaa>Caa		serine/threonine kinase 3							185.0	180.0	181.0					8																	99591900		1815	4076	5891	SO:0001583	missense	6788				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	g.chr8:99591900C>G	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.940G>C	8.37:g.99591900C>G	ENSP00000390500:p.Glu314Gln					STK3_ENST00000419617.2_Missense_Mutation_p.E314Q	p.E342Q	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)	10	1423	-	Breast(36;2.4e-06)	Breast(495;0.106)	314					A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	37	c.1024G>C	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869989	0.72065	.	.	ENSG00000104375	ENST00000419617;ENST00000523601;ENST00000518165	T;T;T	0.72282	-0.64;-0.63;0.12	5.31	5.31	0.75309	Protein kinase-like domain (1);	0.056412	0.64402	D	0.000001	T	0.67730	0.2924	L	0.40543	1.245	0.58432	D	0.999999	B;B;B	0.26708	0.155;0.136;0.157	B;B;B	0.34038	0.064;0.174;0.064	T	0.63677	-0.6583	10	0.34782	T	0.22	.	18.9623	0.92681	0.0:1.0:0.0:0.0	.	203;314;342	E5RFQ9;Q13188;B3KYA7	.;STK3_HUMAN;.	Q	314;342;203	ENSP00000390500:E314Q;ENSP00000429744:E342Q;ENSP00000428014:E203Q	ENSP00000390500:E314Q	E	-	1	0	STK3	99661076	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.346000	0.79347	2.485000	0.83878	0.484000	0.47621	GAA		0.318	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281		6	39	0	0	0	1	0	6	39				
PRKCE	5581	broad.mit.edu	37	2	46234756	46234756	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr2:46234756G>C	ENST00000306156.3	+	9	1546	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q	PRKCE_ENST00000394874.1_Missense_Mutation_p.E130Q	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	407					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	GGGCCTGGATGAGTTCAACTT	0.572																																						ENST00000306156.3																		MBOAT2/PRKCE(2)	0				breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34						c.(1219-1221)Gag>Cag		protein kinase C, epsilon							40.0	44.0	43.0					2																	46234756		1878	3859	5737	SO:0001583	missense	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46234756G>C		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.1219G>C	2.37:g.46234756G>C	ENSP00000306124:p.Glu407Gln					PRKCE_ENST00000394874.1_Missense_Mutation_p.E130Q	p.E407Q	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		9	1546	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	407					B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	c.1219G>C	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450479	0.63290	.	.	ENSG00000171132	ENST00000306156;ENST00000394874	T;T	0.25250	1.81;3.12	5.43	4.53	0.55603	Protein kinase-like domain (1);	0.107097	0.64402	D	0.000005	T	0.15435	0.0372	N	0.08118	0	0.44694	D	0.99768	B	0.23377	0.084	B	0.23716	0.048	T	0.06516	-1.0822	10	0.87932	D	0	.	13.4624	0.61235	0.0778:0.0:0.9222:0.0	.	407	Q02156	KPCE_HUMAN	Q	407;130	ENSP00000306124:E407Q;ENSP00000378341:E130Q	ENSP00000306124:E407Q	E	+	1	0	PRKCE	46088260	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	7.761000	0.85260	1.451000	0.47736	0.655000	0.94253	GAG		0.572	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			10	36	0	0	0	1	0	10	36				
SLC34A1	6569	broad.mit.edu	37	5	176814778	176814778	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:176814778C>T	ENST00000324417.5	+	6	639	c.548C>T	c.(547-549)tCt>tTt	p.S183F	SLC34A1_ENST00000512593.1_Missense_Mutation_p.S183F	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	183					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGTGAGCTCTGCCATCCCC	0.602																																						ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(547-549)tCt>tTt		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							100.0	85.0	90.0					5																	176814778		2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176814778C>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.548C>T	5.37:g.176814778C>T	ENSP00000321424:p.Ser183Phe					SLC34A1_ENST00000512593.1_Missense_Mutation_p.S183F	p.S183F	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	639	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	183					B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.548C>T	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641330	0.87859	.	.	ENSG00000131183	ENST00000512593;ENST00000324417	D;D	0.86297	-2.1;-2.1	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.93200	0.7834	M	0.73598	2.24	0.54753	D	0.999987	D	0.58620	0.983	D	0.68483	0.958	D	0.93630	0.6955	10	0.66056	D	0.02	-10.0304	18.9384	0.92595	0.0:1.0:0.0:0.0	.	183	Q06495	NPT2A_HUMAN	F	183	ENSP00000423022:S183F;ENSP00000321424:S183F	ENSP00000321424:S183F	S	+	2	0	SLC34A1	176747384	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.748000	0.62148	2.474000	0.83562	0.555000	0.69702	TCT		0.602	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		6	32	0	0	0	1	0	6	32				
EPG5	57724	broad.mit.edu	37	18	43460094	43460094	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr18:43460094G>A	ENST00000282041.5	-	32	5647	c.5613C>T	c.(5611-5613)tcC>tcT	p.S1871S	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1871					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CGCCCTCGGTGGACGCTGCCC	0.607											OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(5611-5613)tcC>tcT		ectopic P-granules autophagy protein 5 homolog (C. elegans)							41.0	43.0	42.0					18																	43460094		1931	4119	6050	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43460094G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5613C>T	18.37:g.43460094G>A			OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	916	EPG5_ENST00000585906.1_5'UTR	p.S1871S	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN			32	5647	-			1871					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.5613C>T	CCDS11926.2																																																																																				0.607	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		16	52	0	0	0	1	0	16	52				
PDE4DIP	9659	broad.mit.edu	37	1	144879470	144879470	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:144879470G>C	ENST00000369354.3	-	27	4169	c.3980C>G	c.(3979-3981)tCt>tGt	p.S1327C	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1463C|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1283C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1327C|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1463C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1327					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTTCCTCTCAGAGGAACTAGC	0.522			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4387-4389)tCt>tGt		phosphodiesterase 4D interacting protein							117.0	136.0	130.0					1																	144879470		2203	4295	6498	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879470G>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3980C>G	1.37:g.144879470G>C	ENSP00000358360:p.Ser1327Cys					PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1463C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1327C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1327C|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1283C	p.S1463C			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4426	-			1327					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4388C>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537067	0.27475	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01998	4.51;4.6;4.61;4.61;4.62	5.55	3.64	0.41730	.	.	.	.	.	T	0.00666	0.0022	N	0.08118	0	0.09310	N	0.999998	D;P	0.55800	0.973;0.874	P;B	0.46339	0.513;0.283	T	0.51092	-0.8749	9	0.48119	T	0.1	.	6.5858	0.22620	0.0821:0.0:0.592:0.3258	.	1283;1327	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	C	1283;1327;1327;1463;1463	ENSP00000327209:S1283C;ENSP00000358360:S1327C;ENSP00000358363:S1327C;ENSP00000435654:S1463C;ENSP00000358366:S1463C	ENSP00000327209:S1283C	S	-	2	0	PDE4DIP	143590827	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.402000	0.20965	0.676000	0.31285	0.591000	0.81541	TCT		0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		19	200	0	0	0	1	0	19	200				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron	p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	508	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		13	22	0	0	0	1	0	13	22				
CEP89	84902	broad.mit.edu	37	19	33390877	33390877	+	Silent	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:33390877G>C	ENST00000305768.5	-	16	1849	c.1761C>G	c.(1759-1761)ctC>ctG	p.L587L		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	587					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CCTGCTTTTTGAGGACCTCAA	0.433																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(1759-1761)ctC>ctG		centrosomal protein 89kDa							167.0	147.0	154.0					19																	33390877		2203	4300	6503	SO:0001819	synonymous_variant	84902					centrosome|spindle pole		g.chr19:33390877G>C	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1761C>G	19.37:g.33390877G>C							p.L587L	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			16	1849	-			587					B9EGA6|Q8N5J8	Silent	SNP	ENST00000305768.5	37	c.1761C>G	CCDS32987.1																																																																																				0.433	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		4	63	0	0	0	1	0	4	63				
ARHGDIA	396	broad.mit.edu	37	17	79827209	79827209	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:79827209G>A	ENST00000269321.7	-	4	483	c.348C>T	c.(346-348)ttC>ttT	p.F116F	ARHGDIA_ENST00000541078.2_Silent_p.F116F|ARHGDIA_ENST00000581876.1_Intron|RP11-498C9.3_ENST00000576554.1_RNA|ARHGDIA_ENST00000582520.1_5'Flank|ARHGDIA_ENST00000580685.1_Silent_p.F116F|ARHGDIA_ENST00000400721.4_Silent_p.F116F|RP11-498C9.3_ENST00000576021.1_RNA|ARHGDIA_ENST00000584461.1_Silent_p.F116F	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	116					cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGCTTACCCGGAAAGAGATTT	0.602																																						ENST00000269321.7																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(346-348)ttC>ttT		Rho GDP dissociation inhibitor (GDI) alpha							95.0	112.0	106.0					17																	79827209		2203	4298	6501	SO:0001819	synonymous_variant	396				anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity	g.chr17:79827209G>A	BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.348C>T	17.37:g.79827209G>A						ARHGDIA_ENST00000581876.1_Intron|ARHGDIA_ENST00000541078.2_Silent_p.F116F|ARHGDIA_ENST00000400721.4_Silent_p.F116F|ARHGDIA_ENST00000584461.1_Silent_p.F116F|ARHGDIA_ENST00000580685.1_Silent_p.F116F	p.F116F	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		4	483	-	all_neural(118;0.0878)|Ovarian(332;0.12)		116					A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	Silent	SNP	ENST00000269321.7	37	c.348C>T	CCDS11788.1																																																																																				0.602	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441679.2	NM_004309		28	107	0	0	0	1	0	28	107				
RGS18	64407	broad.mit.edu	37	1	192153555	192153555	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:192153555G>A	ENST00000367460.3	+	5	760	c.579G>A	c.(577-579)ctG>ctA	p.L193L		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	193	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACGTTTTCTGAAATCTGACA	0.413																																						ENST00000367460.3																			0				kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(577-579)ctG>ctA		regulator of G-protein signaling 18							136.0	127.0	130.0					1																	192153555		2203	4300	6503	SO:0001819	synonymous_variant	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192153555G>A	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.579G>A	1.37:g.192153555G>A							p.L193L	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN			5	760	+			193			RGS.		B2RD23	Silent	SNP	ENST00000367460.3	37	c.579G>A	CCDS1374.1																																																																																				0.413	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		8	43	0	0	0	1	0	8	43				
DNAJC5G	285126	broad.mit.edu	37	2	27500790	27500790	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr2:27500790C>T	ENST00000296097.3	+	4	700	c.282C>T	c.(280-282)taC>taT	p.Y94Y	DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000404433.1_Silent_p.Y78Y|SLC30A3_ENST00000447008.2_5'Flank|DNAJC5G_ENST00000402462.1_Silent_p.Y94Y	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	94	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAAATTTACGACCAGCATG	0.418																																						ENST00000296097.3																			0				cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10						c.(280-282)taC>taT		DnaJ (Hsp40) homolog, subfamily C, member 5 gamma							90.0	84.0	86.0					2																	27500790		2203	4300	6503	SO:0001819	synonymous_variant	285126				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr2:27500790C>T	AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"""Heat shock proteins / DNAJ (HSP40)"""	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.282C>T	2.37:g.27500790C>T						DNAJC5G_ENST00000402462.1_Silent_p.Y94Y|DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000404433.1_Silent_p.Y78Y	p.Y94Y	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN			4	700	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		94			J.		B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Silent	SNP	ENST00000296097.3	37	c.282C>T	CCDS1744.1																																																																																				0.418	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	NM_173650		7	57	0	0	0	1	0	7	57				
DIMT1	27292	broad.mit.edu	37	5	61699562	61699562	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:61699562C>T	ENST00000199320.4	-	1	198	c.38G>A	c.(37-39)cGc>cAc	p.R13H	KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Missense_Mutation_p.R13H	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	13						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										CTGCCGCCCGCGGCGGCGGCC	0.706																																						ENST00000199320.4																			0											c.(37-39)cGc>cAc		DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)							7.0	9.0	8.0					5																	61699562		1775	3721	5496	SO:0001583	missense	27292					nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr5:61699562C>T	AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"""DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"""	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.38G>A	5.37:g.61699562C>T	ENSP00000199320:p.Arg13His					KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Missense_Mutation_p.R13H	p.R13H	NM_014473.2	NP_055288.1	Q9UNQ2	DIMT1_HUMAN			1	198	-			13					O76025|Q9BU77|Q9UES1	Missense_Mutation	SNP	ENST00000199320.4	37	c.38G>A	CCDS3981.1	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030945	0.35797	.	.	ENSG00000086189	ENST00000199320;ENST00000506390	.	.	.	4.88	4.0	0.46444	.	0.104831	0.64402	D	0.000004	T	0.11024	0.0269	N	0.00652	-1.29	0.38849	D	0.95622	P	0.41265	0.744	B	0.31337	0.128	T	0.17653	-1.0362	9	0.12430	T	0.62	-9.3417	11.7086	0.51612	0.177:0.823:0.0:0.0	.	13	Q9UNQ2	DIM1_HUMAN	H	13	.	ENSP00000199320:R13H	R	-	2	0	DIMT1L	61735319	0.925000	0.31364	0.592000	0.28758	0.520000	0.34377	0.514000	0.22786	1.269000	0.44280	0.655000	0.94253	CGC		0.706	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253967.1	NM_014473		5	32	0	0	0	1	0	5	32				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	15	0	0	0	1	0	4	15				
AP5Z1	9907	broad.mit.edu	37	7	4828507	4828507	+	Silent	SNP	C	C	T	rs373183061	byFrequency	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr7:4828507C>T	ENST00000348624.4	+	13	1726	c.1632C>T	c.(1630-1632)gcC>gcT	p.A544A	MIR4656_ENST00000579503.1_RNA|AP5Z1_ENST00000401897.1_Silent_p.A544A	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	544					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGCCCATGGCCGGCTGTGCCC	0.716													C|||	3	0.000599042	0.0008	0.0	5008	,	,		14602	0.001		0.001	False		,,,				2504	0.0					ENST00000348624.4																			0											c.(1630-1632)gcC>gcT		adaptor-related protein complex 5, zeta 1 subunit		C		1,4363		0,1,2181	15.0	19.0	18.0		1632	2.2	0.8	7		18	0,8530		0,0,4265	no	coding-synonymous	KIAA0415	NM_014855.2		0,1,6446	TT,TC,CC		0.0,0.0229,0.0078		544/808	4828507	1,12893	2182	4265	6447	SO:0001819	synonymous_variant	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4828507C>T	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.1632C>T	7.37:g.4828507C>T						AP5Z1_ENST00000401897.1_Silent_p.A544A	p.A544A	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			13	1726	+			544					Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	c.1632C>T	CCDS47528.1																																																																																				0.716	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			5	31	0	0	0	1	0	5	31				
SPATA31D5P	347127	broad.mit.edu	37	9	84532606	84532606	+	RNA	SNP	C	C	G	rs187563540	byFrequency	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:84532606C>G	ENST00000527857.1	+	0	2628					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		CAGACAATGTCTCTTCCTGAG	0.448													-|||	40	0.00798722	0.028	0.0043	5008	,	,		19899	0.0		0.0	False		,,,				2504	0.0					ENST00000527857.1																			0																																																			347127							g.chr9:84532606C>G			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84532606C>G								NR_026851.1						0	2628	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.448	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		5	25	0	0	0	1	0	5	25				
OPLAH	26873	broad.mit.edu	37	8	145112802	145112802	+	Silent	SNP	G	G	A	rs201269759		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:145112802G>A	ENST00000426825.1	-	9	1194	c.1113C>T	c.(1111-1113)ccC>ccT	p.P371P	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	371					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGCTGACTCGGGCCCAACCA	0.672																																						ENST00000426825.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1111-1113)ccC>ccT		5-oxoprolinase (ATP-hydrolysing)	L-Glutamic Acid(DB00142)	G		0,4094		0,0,2047	19.0	26.0	24.0		1113	-8.6	0.5	8		24	3,8367		0,3,4182	no	coding-synonymous	OPLAH	NM_017570.3		0,3,6229	AA,AG,GG		0.0358,0.0,0.0241		371/1289	145112802	3,12461	2047	4185	6232	SO:0001819	synonymous_variant	26873						5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	g.chr8:145112802G>A	AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.1113C>T	8.37:g.145112802G>A						OPLAH_ENST00000534424.1_5'UTR	p.P371P	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		9	1194	-	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		371					A5PKY8|Q75W65|Q9Y4Q0	Silent	SNP	ENST00000426825.1	37	c.1113C>T																																																																																					0.672	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017570		11	17	0	0	0	1	0	11	17				
RAPGEF6	51735	broad.mit.edu	37	5	130797642	130797642	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:130797642C>G	ENST00000509018.1	-	19	2825	c.2620G>C	c.(2620-2622)Gat>Cat	p.D874H	RAPGEF6_ENST00000308008.6_Missense_Mutation_p.D874H|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.D924H|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.D874H|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.D589H|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.D879H|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.D874H	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	874	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CGAAACAAATCAAAGTCCCTC	0.408																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(2620-2622)Gat>Cat		Rap guanine nucleotide exchange factor (GEF) 6							100.0	98.0	99.0					5																	130797642		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130797642C>G	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.2620G>C	5.37:g.130797642C>G	ENSP00000421684:p.Asp874His					RAPGEF6_ENST00000296859.6_Missense_Mutation_p.D874H|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.D874H|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.D589H|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.D874H|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.D879H|FNIP1_ENST00000514667.1_Missense_Mutation_p.D924H	p.D874H	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	19	2825	-			874			Ras-GEF.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.2620G>C	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.291544	0.80914	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000514667	T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51	5.69	5.69	0.88448	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.283521	0.43110	D	0.000603	T	0.41858	0.1177	N	0.21240	0.645	0.80722	D	1	P;B;P;P;D;P;P	0.53619	0.933;0.032;0.942;0.86;0.961;0.831;0.747	P;B;P;P;P;P;P	0.59948	0.866;0.109;0.712;0.811;0.866;0.712;0.811	T	0.30851	-0.9964	10	0.62326	D	0.03	.	19.8146	0.96562	0.0:1.0:0.0:0.0	.	874;874;874;589;924;879;874	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	H	874;879;874;874;879;589;874;924	ENSP00000421684:D874H;ENSP00000309298:D879H;ENSP00000426081:D874H;ENSP00000296859:D874H;ENSP00000426910:D589H;ENSP00000311419:D874H;ENSP00000426948:D924H	ENSP00000426948:D924H	D	-	1	0	RAPGEF6;FNIP1	130825541	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.959000	0.70339	2.682000	0.91365	0.655000	0.94253	GAT		0.408	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		6	45	0	0	0	1	0	6	45				
DNMBP	23268	broad.mit.edu	37	10	101639938	101639938	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:101639938G>C	ENST00000324109.4	-	16	4269	c.4178C>G	c.(4177-4179)tCc>tGc	p.S1393C	DNMBP_ENST00000540316.1_Missense_Mutation_p.S329C|DNMBP_ENST00000543621.1_Missense_Mutation_p.S639C|DNMBP_ENST00000342239.3_Missense_Mutation_p.S1417C	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1393	Ser-rich.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CGAGGTAAAGGATACAGCCAT	0.567																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(4249-4251)tCc>tGc		dynamin binding protein							135.0	129.0	131.0					10																	101639938		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101639938G>C	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4178C>G	10.37:g.101639938G>C	ENSP00000315659:p.Ser1393Cys					DNMBP_ENST00000543621.1_Missense_Mutation_p.S639C|DNMBP_ENST00000324109.4_Missense_Mutation_p.S1393C|DNMBP_ENST00000540316.1_Missense_Mutation_p.S329C	p.S1417C			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	16	4341	-		Colorectal(252;0.234)	1393			Ser-rich.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.4250C>G	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374684	0.61735	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.38401	2.55;2.52;2.21;1.14	5.42	4.49	0.54785	.	0.891096	0.09449	N	0.800755	T	0.44393	0.1291	L	0.54323	1.7	0.40217	D	0.977696	P;D;D	0.55605	0.951;0.971;0.972	P;P;P	0.49047	0.518;0.599;0.518	T	0.41680	-0.9495	10	0.66056	D	0.02	-8.7945	11.8984	0.52669	0.0:0.1315:0.7321:0.1364	.	1393;639;1417	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	C	1417;1393;639;639;329	ENSP00000344914:S1417C;ENSP00000315659:S1393C;ENSP00000443657:S639C;ENSP00000443573:S329C	ENSP00000315659:S1393C	S	-	2	0	DNMBP	101629928	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	2.911000	0.48774	2.551000	0.86045	0.561000	0.74099	TCC		0.567	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		10	98	0	0	0	1	0	10	98				
LRRC66	339977	broad.mit.edu	37	4	52860589	52860589	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:52860589C>T	ENST00000343457.3	-	4	2605	c.2599G>A	c.(2599-2601)Gat>Aat	p.D867N		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	867						integral component of membrane (GO:0016021)		p.D867N(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GCAGCCTTATCAGGATCTGAG	0.368																																						ENST00000343457.3																			1	Substitution - Missense(1)	p.D867N(1)	lung(1)	central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						c.(2599-2601)Gat>Aat		leucine rich repeat containing 66							86.0	79.0	81.0					4																	52860589		1862	4101	5963	SO:0001583	missense	339977					integral to membrane		g.chr4:52860589C>T	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2599G>A	4.37:g.52860589C>T	ENSP00000341944:p.Asp867Asn						p.D867N	NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN			4	2605	-			867						Missense_Mutation	SNP	ENST00000343457.3	37	c.2599G>A	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	5.676	0.309247	0.10733	.	.	ENSG00000188993	ENST00000343457	T	0.31247	1.5	4.67	2.03	0.26663	.	1.377770	0.04611	N	0.400216	T	0.15955	0.0384	N	0.03608	-0.345	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.23940	-1.0174	10	0.42905	T	0.14	-0.4169	6.9384	0.24478	0.0:0.7121:0.0:0.2879	.	867	Q68CR7	LRC66_HUMAN	N	867	ENSP00000341944:D867N	ENSP00000341944:D867N	D	-	1	0	LRRC66	52555346	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.285000	0.08410	0.300000	0.22699	-0.812000	0.03155	GAT		0.368	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		5	41	0	0	0	1	0	5	41				
ERN1	2081	broad.mit.edu	37	17	62121349	62121349	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:62121349C>T	ENST00000433197.3	-	22	3028	c.2933G>A	c.(2932-2934)tGa>tAa	p.*978*		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CGCCCTCGCTCAGAGGGCGTC	0.647																																						ENST00000433197.2																			0				central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						c.(2932-2934)tGa>tAa		endoplasmic reticulum to nucleus signaling 1							36.0	45.0	42.0					17																	62121349		1903	4111	6014	SO:0001819	synonymous_variant	2081				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:62121349C>T	AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2933G>A	17.37:g.62121349C>T							p.*978*	NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN			22	3028	-			0						Silent	SNP	ENST00000433197.3	37	c.2933G>A	CCDS45762.1																																																																																				0.647	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443734.2	NM_001433		12	58	0	0	0	1	0	12	58				
UTP14A	10813	broad.mit.edu	37	X	129059976	129059976	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:129059976G>A	ENST00000394422.3	+	13	1859	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	UTP14A_ENST00000371042.3_Missense_Mutation_p.E443K|UTP14A_ENST00000371051.5_Missense_Mutation_p.E557K|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.E559K	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	611					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTTCTTGAAAGAGAAGAGGGA	0.522											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394422.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						c.(1831-1833)Gag>Aag		UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)							65.0	62.0	63.0					X																	129059976		2203	4297	6500	SO:0001583	missense	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129059976G>A	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.1831G>A	X.37:g.129059976G>A	ENSP00000377944:p.Glu611Lys		OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1569	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.E559K|UTP14A_ENST00000371051.5_Missense_Mutation_p.E557K|UTP14A_ENST00000371042.3_Missense_Mutation_p.E443K	p.E611K	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN			13	1859	+			611					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	ENST00000394422.3	37	c.1831G>A	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679727	0.88542	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.51	4.65	0.58169	.	0.147481	0.64402	D	0.000011	T	0.63522	0.2518	M	0.86573	2.825	0.51233	D	0.99991	D;D;D	0.71674	0.984;0.998;0.987	P;D;P	0.72338	0.889;0.977;0.901	T	0.69292	-0.5183	10	0.56958	D	0.05	-29.3733	13.3353	0.60515	0.0792:0.0:0.9208:0.0	.	557;559;611	F8WD00;E9PEL7;Q9BVJ6	.;.;UT14A_HUMAN	K	559;611;557;443	ENSP00000388669:E559K;ENSP00000377944:E611K;ENSP00000360090:E557K;ENSP00000360081:E443K	ENSP00000360081:E443K	E	+	1	0	UTP14A	128887657	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	9.199000	0.95003	1.207000	0.43291	0.600000	0.82982	GAG		0.522	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		7	27	0	0	0	1	0	7	27				
PALLD	23022	broad.mit.edu	37	4	169611869	169611869	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:169611869C>T	ENST00000505667.1	+	7	1624	c.1451C>T	c.(1450-1452)tCt>tTt	p.S484F	PALLD_ENST00000333488.4_Missense_Mutation_p.S361F|PALLD_ENST00000512127.1_Missense_Mutation_p.S102F|PALLD_ENST00000335742.7_Missense_Mutation_p.S102F|PALLD_ENST00000261509.6_Missense_Mutation_p.S484F			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	484	Ig-like C2-type 2.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ATCCAAGACTCTCCAGATTTC	0.537									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000335742.7																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(304-306)tCt>tTt		palladin, cytoskeletal associated protein							86.0	96.0	92.0					4																	169611869		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169611869C>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1451C>T	4.37:g.169611869C>T	ENSP00000425556:p.Ser484Phe					PALLD_ENST00000505667.1_Missense_Mutation_p.S484F|PALLD_ENST00000512127.1_Missense_Mutation_p.S102F|PALLD_ENST00000333488.4_Missense_Mutation_p.S361F|PALLD_ENST00000261509.6_Missense_Mutation_p.S484F	p.S102F			Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	7	1662	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	484					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.305C>T	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126682	0.94429	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000508898;ENST00000333488;ENST00000512127	T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.81	5.81	0.92471	.	0.000000	0.31554	U	0.007455	D	0.90638	0.7064	H	0.97365	3.99	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.91635	0.999;0.996;0.999	D	0.93263	0.6645	10	0.87932	D	0	.	20.0736	0.97735	0.0:1.0:0.0:0.0	.	484;102;484	B7ZMM5;B3KTG2;B2RTX2	.;.;.	F	484;102;484;463;361;102	ENSP00000261509:S484F;ENSP00000336735:S102F;ENSP00000425556:S484F;ENSP00000423063:S463F;ENSP00000328945:S361F;ENSP00000426947:S102F	ENSP00000261509:S484F	S	+	2	0	PALLD	169848444	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.463000	0.80869	2.742000	0.94016	0.650000	0.86243	TCT		0.537	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		15	74	0	0	0	1	0	15	74				
MAP7	9053	broad.mit.edu	37	6	136698928	136698928	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:136698928C>G	ENST00000354570.3	-	7	1126	c.716G>C	c.(715-717)aGa>aCa	p.R239T	MAP7_ENST00000454590.1_Missense_Mutation_p.R261T|MAP7_ENST00000438100.2_Missense_Mutation_p.R224T|MAP7_ENST00000432797.2_Missense_Mutation_p.R93T|MAP7_ENST00000544465.1_Missense_Mutation_p.R224T	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	239					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GCTTTTACTTCTGGCCAGGAA	0.522																																						ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(715-717)aGa>aCa		microtubule-associated protein 7							115.0	99.0	105.0					6																	136698928		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136698928C>G	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.716G>C	6.37:g.136698928C>G	ENSP00000346581:p.Arg239Thr					MAP7_ENST00000432797.2_Missense_Mutation_p.R93T|MAP7_ENST00000438100.2_Missense_Mutation_p.R224T|MAP7_ENST00000454590.1_Missense_Mutation_p.R261T|MAP7_ENST00000544465.1_Missense_Mutation_p.R224T	p.R239T	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	7	1126	-	Colorectal(23;0.24)		239					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.716G>C	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175312	0.78564	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000006	T	0.39172	0.1068	M	0.86740	2.835	0.58432	D	0.999991	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.85130	0.994;0.994;0.997;0.994;0.991;0.997;0.997;0.994	T	0.42327	-0.9458	10	0.72032	D	0.01	-17.4077	19.555	0.95342	0.0:1.0:0.0:0.0	.	224;261;224;261;261;145;202;239	B7Z290;B7ZB64;F5H1E2;E9PCP3;B7Z400;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;.;MAP7_HUMAN	T	239;261;224;224;93;145	ENSP00000346581:R239T;ENSP00000414712:R261T;ENSP00000445737:R224T;ENSP00000400790:R224T;ENSP00000414879:R93T	ENSP00000344217:R145T	R	-	2	0	MAP7	136740621	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.292000	0.78731	2.640000	0.89533	0.655000	0.94253	AGA		0.522	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		6	60	0	0	0	1	0	6	60				
STK32B	55351	broad.mit.edu	37	4	5332963	5332963	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:5332963G>A	ENST00000282908.5	+	4	699	c.277G>A	c.(277-279)Gag>Aag	p.E93K	STK32B_ENST00000510398.1_Missense_Mutation_p.E46K|STK32B_ENST00000512636.1_Missense_Mutation_p.E46K	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CTTCCAGGATGAGGAGGACAT	0.532																																						ENST00000282908.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(277-279)Gag>Aag		serine/threonine kinase 32B							169.0	129.0	142.0					4																	5332963		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5332963G>A	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.277G>A	4.37:g.5332963G>A	ENSP00000282908:p.Glu93Lys					STK32B_ENST00000512636.1_Missense_Mutation_p.E46K|STK32B_ENST00000510398.1_Missense_Mutation_p.E46K	p.E93K	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN			4	699	+			93			Protein kinase.			Missense_Mutation	SNP	ENST00000282908.5	37	c.277G>A	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	G	33	5.243874	0.95272	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.24538	1.85;1.85;1.85	5.05	5.05	0.67936	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	0.41500	U	0.000870	T	0.41880	0.1178	L	0.35542	1.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.23833	-1.0177	10	0.51188	T	0.08	.	17.7695	0.88487	0.0:0.0:1.0:0.0	.	93	Q9NY57	ST32B_HUMAN	K	93;46;46	ENSP00000282908:E93K;ENSP00000423209:E46K;ENSP00000420984:E46K	ENSP00000282908:E93K	E	+	1	0	STK32B	5383864	1.000000	0.71417	0.986000	0.45419	0.961000	0.63080	9.102000	0.94226	2.487000	0.83934	0.462000	0.41574	GAG		0.532	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		6	44	0	0	0	1	0	6	44				
SKA2	348235	broad.mit.edu	37	17	57232366	57232366	+	Intron	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:57232366G>A	ENST00000330137.7	-	1	139				PRR11_ENST00000262293.4_5'Flank|SKA2_ENST00000437036.2_Missense_Mutation_p.P27S|SKA2_ENST00000578105.1_Intron|SKA2_ENST00000583380.1_Intron|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000580541.1_Missense_Mutation_p.P27S	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2						cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			lung(4)	4						GGTGCAGGAGGAGGGAACTCG	0.607																																						ENST00000580541.1																			0				lung(4)	4						c.(79-81)Cct>Tct		spindle and kinetochore associated complex subunit 2							57.0	68.0	65.0					17																	57232366		1910	4104	6014	SO:0001627	intron_variant	348235				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr17:57232366G>A	BC017873	CCDS45747.1, CCDS45748.1	17q23.2	2013-01-17	2009-08-19	2009-08-19	ENSG00000182628	ENSG00000182628			28006	protein-coding gene	gene with protein product			"""family with sequence similarity 33, member A"""	FAM33A		17093495, 19289083, 18583474	Standard	NM_182620		Approved	FLJ12758	uc010dde.1	Q8WVK7		ENST00000330137.7:c.33+125C>T	17.37:g.57232366G>A						SKA2_ENST00000330137.7_Intron|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000583380.1_Intron|SKA2_ENST00000583927.1_Intron|SKA2_ENST00000578105.1_Intron|SKA2_ENST00000437036.2_Missense_Mutation_p.P27S	p.P27S			Q8WVK7	SKA2_HUMAN			1	179	-			0					A6NIL3|B3KPL3|E9PCB8	Missense_Mutation	SNP	ENST00000330137.7	37	c.79C>T	CCDS45747.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170062	0.38315	.	.	ENSG00000182628	ENST00000437036	.	.	.	5.85	3.87	0.44632	.	.	.	.	.	T	0.48352	0.1495	.	.	.	0.80722	D	1	B	0.30281	0.275	B	0.28916	0.096	T	0.48479	-0.9032	7	0.87932	D	0	.	8.5816	0.33632	0.174:0.0:0.826:0.0	.	27	E9PCB8	.	S	27	.	ENSP00000411231:P27S	P	-	1	0	SKA2	54587148	1.000000	0.71417	0.961000	0.40146	0.984000	0.73092	1.673000	0.37534	0.820000	0.34516	0.655000	0.94253	CCT		0.607	SKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445939.1	NM_182620		14	71	0	0	0	1	0	14	71				
CDHR2	54825	broad.mit.edu	37	5	176011783	176011783	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:176011783C>T	ENST00000510636.1	+	19	2775	c.2501C>T	c.(2500-2502)tCg>tTg	p.S834L	CDHR2_ENST00000506348.1_Missense_Mutation_p.S834L|CDHR2_ENST00000261944.5_Missense_Mutation_p.S834L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	834	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTGGTTGCCTCGGATGTGGAC	0.612																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(2500-2502)tCg>tTg		cadherin-related family member 2							111.0	99.0	103.0					5																	176011783		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176011783C>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2501C>T	5.37:g.176011783C>T	ENSP00000424565:p.Ser834Leu					CDHR2_ENST00000261944.5_Missense_Mutation_p.S834L|CDHR2_ENST00000506348.1_Missense_Mutation_p.S834L	p.S834L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			19	2775	+			834			Cadherin 8.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.2501C>T	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	C	7.249	0.602781	0.13939	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.60920	0.15;0.15;0.15	5.28	-10.6	0.00265	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.25531	0.0621	N	0.21373	0.66	0.09310	N	1	P	0.36412	0.552	B	0.21546	0.035	T	0.04752	-1.0929	9	0.18710	T	0.47	0.4357	4.8885	0.13715	0.6026:0.1813:0.0798:0.1363	.	834	Q9BYE9	CDHR2_HUMAN	L	834	ENSP00000424565:S834L;ENSP00000261944:S834L;ENSP00000421078:S834L	ENSP00000261944:S834L	S	+	2	0	CDHR2	175944389	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-1.341000	0.02647	-2.251000	0.00700	-0.333000	0.08304	TCG		0.612	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		16	134	0	0	0	1	0	16	134				
NOL8	55035	broad.mit.edu	37	9	95077246	95077246	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:95077246T>C	ENST00000535387.1	-	6	1660	c.1661A>G	c.(1660-1662)aAc>aGc	p.N554S	NOL8_ENST00000545558.1_Missense_Mutation_p.N554S|NOL8_ENST00000358855.4_Missense_Mutation_p.N486S|NOL8_ENST00000442668.2_Missense_Mutation_p.N554S|NOL8_ENST00000542053.1_Missense_Mutation_p.N486S					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GCCACAGGTGTTCTCCTCTCC	0.478																																						ENST00000545558.1																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						c.(1660-1662)aAc>aGc		nucleolar protein 8							70.0	62.0	65.0					9																	95077246		1859	4096	5955	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95077246T>C	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1661A>G	9.37:g.95077246T>C	ENSP00000441300:p.Asn554Ser					NOL8_ENST00000442668.2_Missense_Mutation_p.N554S|NOL8_ENST00000535387.1_Missense_Mutation_p.N554S|NOL8_ENST00000542053.1_Missense_Mutation_p.N486S|NOL8_ENST00000358855.4_Missense_Mutation_p.N486S	p.N554S			Q76FK4	NOL8_HUMAN			7	2153	-			554						Missense_Mutation	SNP	ENST00000535387.1	37	c.1661A>G	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	T	3.729	-0.056036	0.07362	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	5.69	2.04	0.26737	.	0.797899	0.12214	N	0.489033	T	0.32315	0.0825	L	0.32530	0.975	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.21724	-1.0237	10	0.34782	T	0.22	-10.972	4.8841	0.13694	0.0:0.2337:0.1473:0.619	.	554	Q76FK4	NOL8_HUMAN	S	554;556;486;554;554;486;554	ENSP00000401177:N554S;ENSP00000351723:N486S;ENSP00000441140:N554S;ENSP00000441300:N554S;ENSP00000440709:N486S;ENSP00000414112:N554S	ENSP00000351723:N486S	N	-	2	0	NOL8	94117067	0.012000	0.17670	0.009000	0.14445	0.071000	0.16799	0.319000	0.19522	0.100000	0.17581	-0.313000	0.08912	AAC		0.478	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		9	46	0	0	0	1	0	9	46				
MIR519A2	574500	broad.mit.edu	37	19	54264407	54264407	+	lincRNA	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:54264407G>C	ENST00000384990.1	+	0	0				MIR1283-2_ENST00000408621.1_RNA|RNU6-1041P_ENST00000516254.1_RNA|MIR516A2_ENST00000384888.1_RNA	NR_030222.1				microRNA 519a-2																		TGACCTTCTCGAGGAAAGAAG	0.413																																						ENST00000384888.1																			0																				110.0	100.0	103.0					19																	54264407		1568	3582	5150			574499							g.chr19:54264407G>C			19q13.42	2011-09-12		2008-12-18	ENSG00000207723			"""ncRNAs / Micro RNAs"""	32132	non-coding RNA	RNA, micro				MIRN519A-2, MIRN519A2			Standard	NR_030222		Approved	hsa-mir-519a-2	uc021vaz.1				19.37:g.54264407G>C								NR_030221.1						0	21	+									RNA	SNP	ENST00000384990.1	37																																																																																						0.413	MIR519A2-201	KNOWN	basic	miRNA	lincRNA		NR_030222		6	53	0	0	0	1	0	6	53				
RAPGEF6	51735	broad.mit.edu	37	5	130797624	130797624	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:130797624C>A	ENST00000509018.1	-	19	2843	c.2638G>T	c.(2638-2640)Gaa>Taa	p.E880*	RAPGEF6_ENST00000308008.6_Nonsense_Mutation_p.E880*|CTC-432M15.3_ENST00000514667.1_Nonsense_Mutation_p.E930*|RAPGEF6_ENST00000507093.1_Nonsense_Mutation_p.E880*|RAPGEF6_ENST00000512052.1_Nonsense_Mutation_p.E595*|RAPGEF6_ENST00000307984.5_Nonsense_Mutation_p.E885*|RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.E880*	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	880	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCAGTCGGTTCAATATTACGA	0.408																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(2638-2640)Gaa>Taa		Rap guanine nucleotide exchange factor (GEF) 6							102.0	99.0	100.0					5																	130797624		2203	4300	6503	SO:0001587	stop_gained	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130797624C>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.2638G>T	5.37:g.130797624C>A	ENSP00000421684:p.Glu880*					RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.E880*|RAPGEF6_ENST00000507093.1_Nonsense_Mutation_p.E880*|RAPGEF6_ENST00000512052.1_Nonsense_Mutation_p.E595*|RAPGEF6_ENST00000308008.6_Nonsense_Mutation_p.E880*|RAPGEF6_ENST00000307984.5_Nonsense_Mutation_p.E885*|FNIP1_ENST00000514667.1_Nonsense_Mutation_p.E930*	p.E880*	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	19	2843	-			880			Ras-GEF.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Nonsense_Mutation	SNP	ENST00000509018.1	37	c.2638G>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	40	8.443066	0.98813	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000514667	.	.	.	5.69	5.69	0.88448	.	0.089501	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8146	0.96562	0.0:1.0:0.0:0.0	.	.	.	.	X	880;885;880;880;885;595;880;930	.	ENSP00000426948:E930X	E	-	1	0	RAPGEF6;FNIP1	130825523	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.776000	0.85560	2.682000	0.91365	0.655000	0.94253	GAA		0.408	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		5	35	1	0	0.000602214	1	0.000621118	5	35				
CEP192	55125	broad.mit.edu	37	18	13056587	13056587	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr18:13056587C>T	ENST00000325971.8	+	17	3803	c.2210C>T	c.(2209-2211)tCt>tTt	p.S737F	CEP192_ENST00000430049.2_Missense_Mutation_p.S858F|CEP192_ENST00000506447.1_Missense_Mutation_p.S1333F			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	737					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AACCCATATTCTAATACCTTA	0.463																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3997-3999)tCt>tTt		centrosomal protein 192kDa							121.0	122.0	122.0					18																	13056587		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13056587C>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2210C>T	18.37:g.13056587C>T	ENSP00000317156:p.Ser737Phe					CEP192_ENST00000430049.2_Missense_Mutation_p.S858F|CEP192_ENST00000325971.8_Missense_Mutation_p.S737F	p.S1333F	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			19	4078	+			928					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.3998C>T		.	.	.	.	.	.	.	.	.	.	C	9.489	1.100078	0.20552	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.07327	3.2;3.2;3.2	5.13	4.26	0.50523	.	0.354471	0.24554	N	0.037522	T	0.10852	0.0265	M	0.62723	1.935	0.09310	N	1	B;B;B	0.24368	0.009;0.009;0.102	B;B;B	0.25759	0.016;0.016;0.063	T	0.16070	-1.0415	10	0.62326	D	0.03	-9.0409	8.8712	0.35316	0.0:0.6552:0.2656:0.0792	.	858;1333;737	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	F	1333;737;737;858	ENSP00000427550:S1333F;ENSP00000317156:S737F;ENSP00000389190:S858F	ENSP00000317156:S737F	S	+	2	0	CEP192	13046587	0.001000	0.12720	0.003000	0.11579	0.002000	0.02628	1.375000	0.34295	1.158000	0.42547	0.655000	0.94253	TCT		0.463	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		20	101	0	0	0	1	0	20	101				
INTS6	26512	broad.mit.edu	37	13	51953685	51953685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr13:51953685C>T	ENST00000311234.4	-	11	1771	c.1299G>A	c.(1297-1299)atG>atA	p.M433I	INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Missense_Mutation_p.M255I|INTS6_ENST00000425000.1_Start_Codon_SNP_p.M1I|INTS6_ENST00000398119.2_Missense_Mutation_p.M420I|INTS6_ENST00000490542.1_Missense_Mutation_p.M117I	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	433					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GTGCTCCCATCATCCTAACAG	0.333																																						ENST00000311234.4																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1297-1299)atG>atA		integrator complex subunit 6							150.0	145.0	147.0					13																	51953685		2203	4299	6502	SO:0001583	missense	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:51953685C>T	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.1299G>A	13.37:g.51953685C>T	ENSP00000310260:p.Met433Ile					INTS6_ENST00000398119.2_Missense_Mutation_p.M420I|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000490542.1_Missense_Mutation_p.M117I|INTS6_ENST00000497989.1_Missense_Mutation_p.M255I|INTS6_ENST00000425000.1_Start_Codon_SNP_p.M1I	p.M433I	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	11	1771	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	433					Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	c.1299G>A	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171593	0.57584	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989;ENST00000425000;ENST00000490542;ENST00000483746	T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54	5.58	5.58	0.84498	.	0.041339	0.85682	D	0.000000	T	0.30039	0.0752	L	0.42245	1.32	0.80722	D	1	B	0.11235	0.004	B	0.11329	0.006	T	0.03739	-1.1008	10	0.25751	T	0.34	-5.8713	18.5594	0.91095	0.0:1.0:0.0:0.0	.	433	Q9UL03	INT6_HUMAN	I	433;420;255;1;117;152	ENSP00000310260:M433I;ENSP00000381187:M420I;ENSP00000419871:M255I;ENSP00000406915:M1I;ENSP00000419984:M117I;ENSP00000418026:M152I	ENSP00000310260:M433I	M	-	3	0	INTS6	50851686	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.940000	0.56599	2.627000	0.88993	0.591000	0.81541	ATG		0.333	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		4	36	0	0	0	1	0	4	36				
SYNE2	23224	broad.mit.edu	37	14	64434488	64434488	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:64434488C>T	ENST00000344113.4	+	11	1264	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	SYNE2_ENST00000358025.3_Missense_Mutation_p.S351L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.S351L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	351					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)		GATGTCCTGTCAATAAAACGG	0.398																																						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.(1051-1053)tCa>tTa		spectrin repeat containing, nuclear envelope 2							122.0	115.0	117.0					14																	64434488		1883	4117	6000	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.chr14:64434488C>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.1052C>T	14.37:g.64434488C>T	ENSP00000341781:p.Ser351Leu					SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.S351L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S351L	p.S351L	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)	11	1282	+			351					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.1052C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430993	0.25726	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.59502	0.61;0.61;0.26	5.1	2.98	0.34508	.	0.794830	0.10568	N	0.659511	T	0.50633	0.1627	L	0.50333	1.59	0.23341	N	0.997873	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.43163	-0.9408	10	0.48119	T	0.1	.	8.7651	0.34698	0.0:0.7976:0.0:0.2024	.	351;351	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	L	351	ENSP00000350719:S351L;ENSP00000341781:S351L;ENSP00000452570:S351L	ENSP00000261678:S351L	S	+	2	0	SYNE2	63504241	0.135000	0.22499	0.000000	0.03702	0.060000	0.15804	1.239000	0.32719	0.471000	0.27319	0.591000	0.81541	TCA		0.398	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		12	44	0	0	0	1	0	12	44				
IL2RG	3561	broad.mit.edu	37	X	70331333	70331333	+	Silent	SNP	C	C	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:70331333C>A	ENST00000374202.2	-	1	148	c.57G>T	c.(55-57)ctG>ctT	p.L19L	IL2RG_ENST00000456850.2_5'Flank|IL2RG_ENST00000374188.3_5'Flank	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	19					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GCCCCACTCCCAGCAGGGGCA	0.557									Severe Combined Immunodeficiency, X-linked																													ENST00000374202.2																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15						c.(55-57)ctG>ctT		interleukin 2 receptor, gamma	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)						177.0	119.0	139.0					X																	70331333		2203	4300	6503	SO:0001819	synonymous_variant	3561	Severe Combined Immunodeficiency, X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70331333C>A	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.57G>T	X.37:g.70331333C>A							p.L19L	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN			1	148	-	Renal(35;0.156)		19					Q5FC12	Silent	SNP	ENST00000374202.2	37	c.57G>T	CCDS14406.1																																																																																				0.557	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2			4	45	1	0	1	1	1	4	45				
GABRE	2564	broad.mit.edu	37	X	151123917	151123917	+	Missense_Mutation	SNP	C	C	A	rs61740527		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:151123917C>A	ENST00000370328.3	-	8	1113	c.1060G>T	c.(1060-1062)Gct>Tct	p.A354S	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000370325.1_Missense_Mutation_p.A354S|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	354					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCCAACAGAGCGCAGAAGCAG	0.498																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(1060-1062)Gct>Tct		gamma-aminobutyric acid (GABA) A receptor, epsilon							124.0	108.0	113.0					X																	151123917		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151123917C>A	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1060G>T	X.37:g.151123917C>A	ENSP00000359353:p.Ala354Ser					GABRE_ENST00000370328.3_Missense_Mutation_p.A354S|GABRE_ENST00000483564.1_5'UTR	p.A354S			P78334	GBRE_HUMAN			8	1113	-	Acute lymphoblastic leukemia(192;6.56e-05)		354					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.1060G>T	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.381290	0.61845	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.79247	-1.25;-1.25	5.78	3.95	0.45737	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.56097	D	0.000032	T	0.73885	0.3644	N	0.25144	0.715	0.80722	D	1	D	0.58268	0.982	P	0.57009	0.811	T	0.73553	-0.3946	10	0.87932	D	0	.	7.4767	0.27380	0.166:0.7431:0.0:0.0909	.	354	P78334	GBRE_HUMAN	S	354	ENSP00000359353:A354S;ENSP00000359350:A354S	ENSP00000359350:A354S	A	-	1	0	GABRE	150874573	0.999000	0.42202	0.951000	0.38953	0.129000	0.20672	4.029000	0.57253	0.534000	0.28695	0.600000	0.82982	GCT		0.498	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		8	43	1	0	1	1	1	8	43				
PCDHGA4	56111	broad.mit.edu	37	5	140735118	140735118	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:140735118G>T	ENST00000571252.1	+	1	351	c.351G>T	c.(349-351)ttG>ttT	p.L117F	PCDHGA1_ENST00000517417.1_Intron|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	117	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			TGAAGATTTTGCGGGTAGAGG	0.453																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(349-351)ttG>ttT									52.0	55.0	54.0					5																	140735118		1939	4173	6112	SO:0001583	missense	56111							g.chr5:140735118G>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.351G>T	5.37:g.140735118G>T	ENSP00000458570:p.Leu117Phe					PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.L117F	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	351	+								Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.351G>T	CCDS58979.1																																																																																				0.453	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		6	39	1	0	0.0215528	1	0.0219342	6	39				
LONP2	83752	broad.mit.edu	37	16	48311250	48311250	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:48311250C>T	ENST00000285737.4	+	8	1336	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	LONP2_ENST00000535754.1_Splice_Site_p.R371C	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTTCTCTAGGCGCACCTATGT	0.473																																						ENST00000285737.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.e8-1		lon peptidase 2, peroxisomal							105.0	97.0	100.0					16																	48311250		2200	4300	6500	SO:0001630	splice_region_variant	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48311250C>T	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1242-1C>T	16.37:g.48311250C>T						LONP2_ENST00000535754.1_Splice_Site_p.R371_splice	p.R415_splice	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN			8	1336	+			415						Splice_Site	SNP	ENST00000285737.4	37	c.1241_splice	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186517	0.94885	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T;T	0.44482	0.92;0.92;0.92	5.81	5.81	0.92471	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.80221	0.4583	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87431	0.2388	10	0.87932	D	0	-21.6742	20.0763	0.97746	0.0:1.0:0.0:0.0	.	371;415	B7ZKL7;Q86WA8	.;LONP2_HUMAN	C	415;144;371;371	ENSP00000285737:R415C;ENSP00000445426:R371C;ENSP00000415983:R371C	ENSP00000285737:R415C	R	+	1	0	LONP2	46868751	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.914000	0.69964	2.756000	0.94617	0.655000	0.94253	CGC		0.473	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490	Missense_Mutation	12	49	0	0	0	1	0	12	49				
ARID1B	57492	broad.mit.edu	37	6	157528521	157528521	+	Silent	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:157528521G>T	ENST00000350026.5	+	19	6208	c.6207G>T	c.(6205-6207)gtG>gtT	p.V2069V	ARID1B_ENST00000275248.4_Silent_p.V2064V|ARID1B_ENST00000367148.1_Silent_p.V2122V|ARID1B_ENST00000346085.5_Silent_p.V2082V	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2069					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGAGACTTGTGCTGGAGACCC	0.517																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(6244-6246)gtG>gtT		AT rich interactive domain 1B (SWI1-like)							200.0	209.0	206.0					6																	157528521		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528521G>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6207G>T	6.37:g.157528521G>T						ARID1B_ENST00000275248.4_Silent_p.V2064V|ARID1B_ENST00000367148.1_Silent_p.V2122V|ARID1B_ENST00000350026.5_Silent_p.V2069V	p.V2082V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	6247	+		Breast(66;0.000162)|Ovarian(120;0.0265)	2069					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.6246G>T	CCDS5251.2																																																																																				0.517	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		55	167	1	0	5.22555e-25	1	5.94989e-25	55	167				
TBC1D4	9882	broad.mit.edu	37	13	75898380	75898380	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr13:75898380C>T	ENST00000377636.3	-	11	2537	c.2191G>A	c.(2191-2193)Gaa>Aaa	p.E731K	TBC1D4_ENST00000431480.2_Missense_Mutation_p.E731K|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Intron	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	731	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CACCTGATTTCATTTTCATAC	0.403																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2191-2193)Gaa>Aaa		TBC1 domain family, member 4							94.0	94.0	94.0					13																	75898380		1834	4095	5929	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75898380C>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2191G>A	13.37:g.75898380C>T	ENSP00000366863:p.Glu731Lys					TBC1D4_ENST00000377625.2_Intron|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.E731K	p.E731K	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	11	2537	-		Prostate(6;0.014)|Breast(118;0.0982)	731			Ser-rich.		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.2191G>A	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784285	0.49997	.	.	ENSG00000136111	ENST00000377636;ENST00000431480	T;T	0.44482	0.92;0.94	5.33	5.33	0.75918	.	0.760735	0.12174	N	0.492702	T	0.31136	0.0787	N	0.22421	0.69	0.80722	D	1	B;P	0.39665	0.241;0.682	B;B	0.35182	0.051;0.197	T	0.17077	-1.0381	10	0.11794	T	0.64	-10.8106	19.0483	0.93030	0.0:1.0:0.0:0.0	.	731;731	O60343-3;O60343	.;TBCD4_HUMAN	K	731	ENSP00000366863:E731K;ENSP00000395986:E731K	ENSP00000366863:E731K	E	-	1	0	TBC1D4	74796381	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.463000	0.53050	2.495000	0.84180	0.655000	0.94253	GAA		0.403	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		8	24	0	0	0	1	0	8	24				
MGAM	8972	broad.mit.edu	37	7	141770873	141770873	+	Intron	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr7:141770873G>T	ENST00000549489.2	+	38	4713				MGAM_ENST00000475668.2_Missense_Mutation_p.G1714V	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCCGTGGGGGCTACATCCTG	0.488																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(5140-5142)gGc>gTc		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						52.0	42.0	45.0					7																	141770873		874	1935	2809	SO:0001627	intron_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141770873G>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4618+5605G>T	7.37:g.141770873G>T						MGAM_ENST00000549489.2_Intron	p.G1714V			O43451	MGA_HUMAN			44	5195	+	Melanoma(164;0.0272)		1714			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.5141G>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275964	0.40294	.	.	ENSG00000257335	ENST00000475668;ENST00000548812	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	T	0.73048	0.3537	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77477	-0.2573	5	0.87932	D	0	.	13.5713	0.61847	0.0:0.0:1.0:0.0	.	.	.	.	V	1714;1591	.	ENSP00000316431:G1591V	G	+	2	0	MGAM	141417342	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	8.868000	0.92320	1.753000	0.51906	0.306000	0.20318	GGC		0.488	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			8	31	1	0	0.0477658	1	0.048397	8	31				
SLC6A3	6531	broad.mit.edu	37	5	1403077	1403077	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:1403077G>A	ENST00000270349.9	-	13	1854	c.1727C>T	c.(1726-1728)gCg>gTg	p.A576V	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A576V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	576	Interaction with TGFB1I1.				adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTTGTAGGCCGCATAGATGGG	0.632																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1726-1728)gCg>gTg		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						70.0	61.0	64.0					5																	1403077		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1403077G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1727C>T	5.37:g.1403077G>A	ENSP00000270349:p.Ala576Val					SLC6A3_ENST00000453492.2_Missense_Mutation_p.A576V	p.A576V	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		13	1854	-			576			Interaction with TGFB1I1.		A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1727C>T	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	g	16.65	3.181833	0.57800	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.75477	-0.94;-0.94	4.18	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.66416	0.2787	L	0.56769	1.78	0.80722	D	1	B	0.28783	0.222	B	0.27076	0.076	T	0.62077	-0.6930	10	0.06757	T	0.87	.	14.0283	0.64599	0.0:0.0:1.0:0.0	.	576	Q01959	SC6A3_HUMAN	V	576	ENSP00000270349:A576V;ENSP00000399806:A576V	ENSP00000270349:A576V	A	-	2	0	SLC6A3	1456077	1.000000	0.71417	0.110000	0.21437	0.909000	0.53808	6.701000	0.74624	1.905000	0.55150	0.298000	0.19748	GCG		0.632	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		3	34	0	0	0	1	0	3	34				
GPR137	56834	broad.mit.edu	37	11	64054480	64054480	+	Missense_Mutation	SNP	G	G	A	rs138261831		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:64054480G>A	ENST00000313074.3	+	2	506	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	BAD_ENST00000394532.3_5'Flank|BAD_ENST00000309032.3_5'Flank|BAD_ENST00000544785.1_5'Flank|GPR137_ENST00000438980.2_Missense_Mutation_p.R134Q|BAD_ENST00000394531.3_5'Flank|GPR137_ENST00000539851.1_Missense_Mutation_p.R134Q|GPR137_ENST00000411458.1_Missense_Mutation_p.R192Q|GPR137_ENST00000377702.4_Missense_Mutation_p.R134Q	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	134						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GAGATGAGCCGAGGCTTGTAA	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		18426	0.0		0.001	False		,,,				2504	0.0					ENST00000539851.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(400-402)cGa>cAa		G protein-coupled receptor 137							56.0	42.0	47.0					11																	64054480		2201	4296	6497	SO:0001583	missense	56834					integral to membrane		g.chr11:64054480G>A	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.401G>A	11.37:g.64054480G>A	ENSP00000321698:p.Arg134Gln					GPR137_ENST00000313074.3_Missense_Mutation_p.R134Q|GPR137_ENST00000411458.1_Missense_Mutation_p.R192Q|GPR137_ENST00000438980.2_Missense_Mutation_p.R134Q|GPR137_ENST00000377702.4_Missense_Mutation_p.R134Q	p.R134Q	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN			3	868	+			134					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Missense_Mutation	SNP	ENST00000313074.3	37	c.401G>A	CCDS8066.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	22.7	4.323209	0.81580	.	.	ENSG00000173264	ENST00000546139;ENST00000411458;ENST00000539851;ENST00000536667;ENST00000539833;ENST00000377702;ENST00000543383;ENST00000538032;ENST00000540969;ENST00000438980;ENST00000313074;ENST00000542190;ENST00000541952	T;T;T;T;T	0.48836	0.8;0.86;0.86;0.86;0.82	3.91	3.91	0.45181	.	0.085301	0.44483	D	0.000450	T	0.49575	0.1565	L	0.27053	0.805	0.27738	N	0.944563	P;D;P;D;P;D;D	0.76494	0.893;0.999;0.936;0.99;0.893;0.994;0.984	B;P;B;P;B;P;B	0.61477	0.417;0.889;0.164;0.563;0.417;0.651;0.268	T	0.41052	-0.9530	10	0.54805	T	0.06	-2.0214	11.2732	0.49150	0.0:0.0:1.0:0.0	.	134;192;140;134;134;134;134	B7Z7M1;B4DTG7;F5H234;Q96N19-2;F5GXI8;Q96N19;Q96N19-3	.;.;.;.;.;G137A_HUMAN;.	Q	140;192;134;22;134;134;134;134;134;134;134;134;134	ENSP00000411827:R192Q;ENSP00000442792:R134Q;ENSP00000441003:R134Q;ENSP00000415698:R134Q;ENSP00000321698:R134Q	ENSP00000321698:R134Q	R	+	2	0	GPR137	63811056	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.782000	0.47758	2.024000	0.59613	0.561000	0.74099	CGA		0.612	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155		8	34	0	0	0	1	0	8	34				
PIK3CB	5291	broad.mit.edu	37	3	138433523	138433523	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:138433523G>A	ENST00000477593.1	-	8	1162	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	PIK3CB_ENST00000544716.1_5'Flank|PIK3CB_ENST00000289153.2_Silent_p.L363L			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	363	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	TTTTACACAGGAGCTCAGTAC	0.373																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(1087-1089)ctC>ctT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							132.0	134.0	133.0					3																	138433523		2203	4299	6502	SO:0001819	synonymous_variant	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138433523G>A		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1089C>T	3.37:g.138433523G>A						PIK3CB_ENST00000289153.2_Silent_p.L363L	p.L363L			P42338	PK3CB_HUMAN			8	1162	-			363			C2 PI3K-type.		D3DNF0|Q24JU2	Silent	SNP	ENST00000477593.1	37	c.1089C>T	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	G	9.078	0.998493	0.19121	.	.	ENSG00000051382	ENST00000493568;ENST00000462294	.	.	.	5.62	0.605	0.17553	.	.	.	.	.	T	0.43433	0.1247	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21827	-1.0234	4	.	.	.	-12.8567	2.8757	0.05630	0.1923:0.2222:0.4712:0.1142	.	.	.	.	F	12;174	.	.	S	-	2	0	PIK3CB	139916213	1.000000	0.71417	0.995000	0.50966	0.866000	0.49608	0.759000	0.26461	0.108000	0.17862	0.655000	0.94253	TCC		0.373	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			9	60	0	0	0	1	0	9	60				
ZNF185	7739	broad.mit.edu	37	X	152085679	152085679	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:152085679C>T	ENST00000370268.4	+	4	266	c.229C>T	c.(229-231)Ccg>Tcg	p.P77S	ZNF185_ENST00000539731.1_Missense_Mutation_p.P77S|ZNF185_ENST00000449285.2_Missense_Mutation_p.P77S|ZNF185_ENST00000370270.2_Missense_Mutation_p.P77S|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000318529.8_5'Flank|ZNF185_ENST00000318504.7_Missense_Mutation_p.P77S|ZNF185_ENST00000535861.1_Missense_Mutation_p.P77S			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	77						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CGGCAGGCCTCCGAGCACAAG	0.572																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(229-231)Ccg>Tcg		zinc finger protein 185 (LIM domain)							62.0	67.0	66.0					X																	152085679		2080	4174	6254	SO:0001583	missense	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152085679C>T	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.229C>T	X.37:g.152085679C>T	ENSP00000359291:p.Pro77Ser					ZNF185_ENST00000539731.1_Missense_Mutation_p.P77S|ZNF185_ENST00000318504.7_Missense_Mutation_p.P77S|ZNF185_ENST00000449285.2_Missense_Mutation_p.P77S|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000370268.4_Missense_Mutation_p.P77S	p.P77S	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			4	277	+	Acute lymphoblastic leukemia(192;6.56e-05)		77					A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	c.229C>T	CCDS48184.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654162	0.29425	.	.	ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000370268	T;T;T;T;T	0.49432	0.79;0.81;0.78;0.82;0.81	4.98	1.06	0.20224	.	.	.	.	.	T	0.46328	0.1387	L	0.53249	1.67	0.09310	N	1	P;P;B;P;P;P	0.46952	0.86;0.617;0.194;0.86;0.887;0.617	P;B;B;P;P;B	0.49597	0.536;0.242;0.107;0.536;0.616;0.242	T	0.38585	-0.9654	9	0.87932	D	0	.	2.8487	0.05551	0.3178:0.4362:0.152:0.0939	.	77;77;77;77;77;77	O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231	.;.;.;.;.;ZN185_HUMAN	S	77	ENSP00000440847:P77S;ENSP00000444367:P77S;ENSP00000395228:P77S;ENSP00000312782:P77S;ENSP00000359291:P77S	ENSP00000312782:P77S	P	+	1	0	ZNF185	151836335	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.013000	0.13310	-0.050000	0.13356	-0.191000	0.12829	CCG		0.572	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		12	76	0	0	0	1	0	12	76				
CCDC86	79080	broad.mit.edu	37	11	60610238	60610238	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:60610238G>A	ENST00000227520.5	+	1	695	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	214					viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GCAAAGAAGCGAAAAGGTTCT	0.612																																						ENST00000227520.5																			0				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						c.(640-642)cGa>cAa		coiled-coil domain containing 86							22.0	24.0	24.0					11																	60610238		2203	4299	6502	SO:0001583	missense	79080				interspecies interaction between organisms	nucleus		g.chr11:60610238G>A	AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.641G>A	11.37:g.60610238G>A	ENSP00000227520:p.Arg214Gln					RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	p.R214Q	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN			1	695	+			214					B4DY99	Missense_Mutation	SNP	ENST00000227520.5	37	c.641G>A	CCDS7993.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440478	0.43326	.	.	ENSG00000110104	ENST00000227520	T	0.55930	0.49	4.21	3.25	0.37280	.	0.457422	0.17547	N	0.170311	T	0.55955	0.1953	L	0.55103	1.725	0.48696	D	0.999691	D	0.76494	0.999	P	0.51079	0.658	T	0.57087	-0.7871	10	0.49607	T	0.09	-3.4078	11.9096	0.52731	0.0:0.4889:0.5111:0.0	.	214	Q9H6F5	CCD86_HUMAN	Q	214	ENSP00000227520:R214Q	ENSP00000227520:R214Q	R	+	2	0	CCDC86	60366814	0.218000	0.23608	0.754000	0.31244	0.641000	0.38312	0.231000	0.17872	1.040000	0.40099	0.462000	0.41574	CGA		0.612	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395743.1	NM_024098		6	17	0	0	0	1	0	6	17				
MCM5	4174	broad.mit.edu	37	22	35802584	35802584	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr22:35802584C>T	ENST00000216122.4	+	5	616	c.462C>T	c.(460-462)atC>atT	p.I154I	MCM5_ENST00000382011.5_Silent_p.I111I	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	154					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TCCCTGGCATCATCATCGCGG	0.592																																						ENST00000216122.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(460-462)atC>atT		minichromosome maintenance complex component 5							88.0	67.0	74.0					22																	35802584		2203	4300	6503	SO:0001819	synonymous_variant	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35802584C>T		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.462C>T	22.37:g.35802584C>T						MCM5_ENST00000382011.5_Silent_p.I111I|CTA-286B10.7_ENST00000417343.1_RNA	p.I154I	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN			5	616	+			154					O60785|Q14578|Q9BTJ4|Q9BWL8	Silent	SNP	ENST00000216122.4	37	c.462C>T	CCDS13915.1																																																																																				0.592	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			7	40	0	0	0	1	0	7	40				
ZC3H12B	340554	broad.mit.edu	37	X	64722218	64722218	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:64722218C>G	ENST00000338957.4	+	5	1707	c.1640C>G	c.(1639-1641)tCa>tGa	p.S547*	ZC3H12B_ENST00000423889.3_Nonsense_Mutation_p.S536*	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	547							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCTACTATTCAATGTTAGGT	0.478																																						ENST00000338957.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1639-1641)tCa>tGa		zinc finger CCCH-type containing 12B							50.0	47.0	48.0					X																	64722218		1916	4122	6038	SO:0001587	stop_gained	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722218C>G	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1640C>G	X.37:g.64722218C>G	ENSP00000340839:p.Ser547*					ZC3H12B_ENST00000423889.3_Nonsense_Mutation_p.S536*	p.S547*	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN			5	1707	+			536					B2RTQ3|E9PAJ6|Q5H9C0	Nonsense_Mutation	SNP	ENST00000338957.4	37	c.1640C>G	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	C	37	6.396565	0.97533	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	.	.	.	4.95	4.95	0.65309	.	0.059895	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-33.5624	15.737	0.77853	0.0:1.0:0.0:0.0	.	.	.	.	X	547;536;483	.	ENSP00000218172:S483X	S	+	2	0	ZC3H12B	64638943	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	7.236000	0.78154	2.280000	0.76307	0.513000	0.50165	TCA		0.478	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334		10	56	0	0	0	1	0	10	56				
SMPDL3B	27293	broad.mit.edu	37	1	28271923	28271923	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:28271923T>C	ENST00000373894.3	+	2	433	c.242T>C	c.(241-243)aTt>aCt	p.I81T	SMPDL3B_ENST00000373888.4_Missense_Mutation_p.I81T|RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000466793.1_3'UTR|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.I81T	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	81					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		ATGAAGGAGATTGAGCCAGAG	0.572																																						ENST00000373894.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16						c.(241-243)aTt>aCt		sphingomyelin phosphodiesterase, acid-like 3B							69.0	62.0	65.0					1																	28271923		2203	4300	6503	SO:0001583	missense	27293				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr1:28271923T>C	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.242T>C	1.37:g.28271923T>C	ENSP00000363001:p.Ile81Thr					SMPDL3B_ENST00000466793.1_3'UTR|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.I81T|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.I81T|RP11-460I13.2_ENST00000448015.1_RNA	p.I81T	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)	2	433	+		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	81					B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	ENST00000373894.3	37	c.242T>C	CCDS30655.1	.	.	.	.	.	.	.	.	.	.	T	8.742	0.919154	0.17982	.	.	ENSG00000130768	ENST00000373894;ENST00000373890;ENST00000411604;ENST00000373888;ENST00000549094;ENST00000412515	D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73	5.25	4.11	0.48088	Metallophosphoesterase domain (1);	0.154593	0.56097	D	0.000024	D	0.91026	0.7177	L	0.41236	1.265	0.29785	N	0.833687	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.70935	0.951;0.971;0.932	D	0.84878	0.0829	10	0.15066	T	0.55	-12.6227	11.1553	0.48484	0.1383:0.0:0.0:0.8617	.	81;81;81	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	T	81;111;111;81;81;81	ENSP00000363001:I81T;ENSP00000388092:I111T;ENSP00000362995:I81T;ENSP00000449450:I81T	ENSP00000362995:I81T	I	+	2	0	SMPDL3B	28144510	1.000000	0.71417	0.268000	0.24571	0.003000	0.03518	4.694000	0.61760	0.815000	0.34398	-0.336000	0.08194	ATT		0.572	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		9	33	0	0	0	1	0	9	33				
LINC00969	440993	broad.mit.edu	37	3	195395402	195395402	+	lincRNA	SNP	C	C	A	rs199554501	byFrequency	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:195395402C>A	ENST00000445430.1	+	0	809									long intergenic non-protein coding RNA 969																		TACGGGCGCACCTACTTGAGC	0.597																																						ENST00000445430.1																			0																																																			440993							g.chr3:195395402C>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395402C>A														0	809	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			6	59	1	0	7.48243e-07	1	8.00446e-07	6	59				
TACC3	10460	broad.mit.edu	37	4	1725454	1725454	+	Splice_Site	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:1725454G>C	ENST00000313288.4	+	3	268		c.e3-1		TMEM129_ENST00000382936.3_5'Flank|TMEM129_ENST00000303277.2_5'Flank|TMEM129_ENST00000536901.1_5'Flank	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3						astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CTCCGCAACAGGTGACTTTTC	0.537																																					Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.e3-1		transforming, acidic coiled-coil containing protein 3							71.0	71.0	71.0					4																	1725454		2202	4300	6502	SO:0001630	splice_region_variant	10460					centrosome		g.chr4:1725454G>C	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.163-1G>C	4.37:g.1725454G>C								NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		3	268	+		Breast(71;0.212)|all_epithelial(65;0.241)						Q2NKK4|Q3KQS5|Q9UMQ1	Splice_Site	SNP	ENST00000313288.4	37		CCDS3352.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734662	0.69189	.	.	ENSG00000013810	ENST00000485989;ENST00000313288;ENST00000343760;ENST00000493975;ENST00000458173	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9608	0.89084	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TACC3	1695252	1.000000	0.71417	0.981000	0.43875	0.893000	0.52053	5.735000	0.68587	2.308000	0.77769	0.655000	0.94253	.		0.537	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2		Intron	9	54	0	0	0	1	0	9	54				
RTP1	132112	broad.mit.edu	37	3	186917822	186917822	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:186917822C>T	ENST00000312295.4	+	2	786	c.756C>T	c.(754-756)atC>atT	p.I252I	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	252					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TGCTGCTGATCATCTACCTGC	0.597																																						ENST00000312295.4																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(754-756)atC>atT		receptor (chemosensory) transporter protein 1							91.0	87.0	88.0					3																	186917822		2203	4300	6503	SO:0001819	synonymous_variant	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917822C>T	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.756C>T	3.37:g.186917822C>T						RP11-208N14.4_ENST00000356133.3_RNA	p.I252I	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	786	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		252						Silent	SNP	ENST00000312295.4	37	c.756C>T	CCDS3287.2																																																																																				0.597	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		15	64	0	0	0	1	0	15	64				
DOCK7	85440	broad.mit.edu	37	1	62979403	62979403	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:62979403G>C	ENST00000340370.5	-	31	4027	c.4010C>G	c.(4009-4011)tCt>tGt	p.S1337C	DOCK7_ENST00000251157.5_Missense_Mutation_p.S1368C	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1368					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTCAAAGCAAGACACACAGAG	0.363																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(4102-4104)tCt>tGt		dedicator of cytokinesis 7							101.0	99.0	99.0					1																	62979403		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62979403G>C		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4010C>G	1.37:g.62979403G>C	ENSP00000340742:p.Ser1337Cys					DOCK7_ENST00000340370.5_Missense_Mutation_p.S1337C	p.S1368C	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			32	4136	-			1368					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.4103C>G	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095579	0.76870	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	T;T	0.02682	4.2;4.2	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.16428	0.0395	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D;P	0.76494	0.997;0.998;0.999;0.999;0.999;0.779	P;D;D;D;D;B	0.72625	0.894;0.927;0.971;0.946;0.978;0.26	T	0.00046	-1.2212	10	0.59425	D	0.04	.	19.6914	0.96002	0.0:0.0:1.0:0.0	.	1368;1368;1337;1337;1337;1368	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	DOCK7_HUMAN;.;.;.;.;.	C	1368;1368;1337;107	ENSP00000251157:S1368C;ENSP00000340742:S1337C	ENSP00000251157:S1368C	S	-	2	0	DOCK7	62751991	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.869000	0.99810	2.644000	0.89710	0.563000	0.77884	TCT		0.363	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		14	44	0	0	0	1	0	14	44				
SNX29	92017	broad.mit.edu	37	16	12162924	12162924	+	Silent	SNP	C	C	T	rs183275123		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:12162924C>T	ENST00000566228.1	+	10	1323	c.1254C>T	c.(1252-1254)ctC>ctT	p.L418L	SNX29_ENST00000306030.3_Silent_p.L33L|SNX29_ENST00000323433.4_Silent_p.L33L	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	418						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ATGCCCCCCTCGGAAGCCTGG	0.498																																						ENST00000566228.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(1252-1254)ctC>ctT		sorting nexin 29							93.0	101.0	98.0					16																	12162924		1916	4125	6041	SO:0001819	synonymous_variant	92017				cell communication		phosphatidylinositol binding	g.chr16:12162924C>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1254C>T	16.37:g.12162924C>T						SNX29_ENST00000323433.4_Silent_p.L33L|SNX29_ENST00000306030.3_Silent_p.L33L	p.L418L	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			10	1323	+			33					B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	ENST00000566228.1	37	c.1254C>T	CCDS10553.2																																																																																				0.498	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			11	66	0	0	0	1	0	11	66				
IFT43	112752	broad.mit.edu	37	14	76549008	76549008	+	Silent	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:76549008C>G	ENST00000314067.6	+	7	451	c.417C>G	c.(415-417)ctC>ctG	p.L139L	IFT43_ENST00000238628.6_Silent_p.L144L	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43	139					cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						ACAATGACCTCATGAAGTACT	0.532																																						ENST00000314067.6																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(415-417)ctC>ctG		intraflagellar transport 43 homolog (Chlamydomonas)							156.0	140.0	145.0					14																	76549008		2203	4300	6503	SO:0001819	synonymous_variant	112752				cilium morphogenesis|intraflagellar retrograde transport			g.chr14:76549008C>G	BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"""Intraflagellar transport homologs"""	29669	protein-coding gene	gene with protein product		614068	"""chromosome 14 open reading frame 179"", ""intraflagellar transport 43 homolog (Chlamydomonas)"""	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.417C>G	14.37:g.76549008C>G						IFT43_ENST00000238628.6_Silent_p.L144L	p.L139L	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN			7	451	+			139					B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Silent	SNP	ENST00000314067.6	37	c.417C>G	CCDS41973.1																																																																																				0.532	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052873		17	81	0	0	0	1	0	17	81				
MYH10	4628	broad.mit.edu	37	17	8413267	8413267	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:8413267C>T	ENST00000269243.4	-	23	2998	c.2860G>A	c.(2860-2862)Gac>Aac	p.D954N	RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000379980.4_Splice_Site_p.D970N|MYH10_ENST00000360416.3_Splice_Site_p.D985N|MYH10_ENST00000396239.1_Splice_Site_p.D975N	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	954					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						TCTTCCAGGTCCTTGTGAAGA	0.458																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.e25-1		myosin, heavy chain 10, non-muscle							76.0	70.0	72.0					17																	8413267		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:8413267C>T	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.2860-1G>A	17.37:g.8413267C>T						MYH10_ENST00000379980.4_Splice_Site_p.D970_splice|MYH10_ENST00000396239.1_Splice_Site_p.D975_splice|MYH10_ENST00000269243.4_Splice_Site_p.D954_splice	p.D985_splice	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			25	3091	-			954					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Splice_Site	SNP	ENST00000269243.4	37	c.2952_splice	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406551	0.83230	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.86678	0.5990	M	0.84846	2.72	0.80722	D	1	B;B;B	0.22909	0.004;0.077;0.004	B;B;B	0.29176	0.046;0.099;0.046	D	0.85891	0.1428	10	0.87932	D	0	.	18.5834	0.91180	0.0:1.0:0.0:0.0	.	963;985;954	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	N	954;985;975;970	ENSP00000269243:D954N;ENSP00000353590:D985N;ENSP00000379539:D975N;ENSP00000369315:D970N	ENSP00000269243:D954N	D	-	1	0	MYH10	8353992	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.645000	0.83430	2.609000	0.88269	0.591000	0.81541	GAC		0.458	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2		Missense_Mutation	7	54	0	0	0	1	0	7	54				
MLLT10	8028	broad.mit.edu	37	10	21823581	21823581	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:21823581C>G	ENST00000307729.7	+	2	186	c.8C>G	c.(7-9)tCt>tGt	p.S3C	MLLT10_ENST00000446906.2_Missense_Mutation_p.S3C|MLLT10_ENST00000495130.1_3'UTR|MLLT10_ENST00000377059.3_Missense_Mutation_p.S3C|MLLT10_ENST00000377100.3_Missense_Mutation_p.S3C|MLLT10_ENST00000377091.2_Missense_Mutation_p.S3C|MLLT10_ENST00000377072.3_Missense_Mutation_p.S3C			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	3					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TAGATGGTCTCTAGCGACCGG	0.612			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(7-9)tCt>tGt		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							110.0	106.0	107.0					10																	21823581		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21823581C>G	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.8C>G	10.37:g.21823581C>G	ENSP00000307411:p.Ser3Cys					MLLT10_ENST00000377091.2_Missense_Mutation_p.S3C|MLLT10_ENST00000446906.2_Missense_Mutation_p.S3C|MLLT10_ENST00000495130.1_3'UTR|MLLT10_ENST00000377100.3_Missense_Mutation_p.S3C|MLLT10_ENST00000377059.3_Missense_Mutation_p.S3C|MLLT10_ENST00000307729.7_Missense_Mutation_p.S3C	p.S3C	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			2	356	+			3					B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.8C>G	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312969	0.81358	.	.	ENSG00000078403	ENST00000377100;ENST00000377072;ENST00000446906;ENST00000307729;ENST00000377091;ENST00000377059	T;T;T;T;T	0.53423	0.62;2.28;2.28;2.28;2.28	3.78	3.78	0.43462	.	0.417960	0.20400	U	0.093079	T	0.54967	0.1891	N	0.24115	0.695	0.52501	D	0.999952	D;D;D;D;D	0.76494	0.997;0.999;0.997;0.989;0.999	D;P;D;P;D	0.73708	0.971;0.907;0.981;0.887;0.936	T	0.62393	-0.6864	10	0.72032	D	0.01	.	16.1499	0.81605	0.0:1.0:0.0:0.0	.	3;3;3;3;3	E9PBP4;Q5VX90;P55197;Q66K63;B1ANA8	.;.;AF10_HUMAN;.;.	C	3	ENSP00000366304:S3C;ENSP00000366272:S3C;ENSP00000401406:S3C;ENSP00000307411:S3C;ENSP00000366258:S3C	ENSP00000307411:S3C	S	+	2	0	MLLT10	21863587	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.774000	0.62339	2.080000	0.62538	0.455000	0.32223	TCT		0.612	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			13	84	0	0	0	1	0	13	84				
MTFR1L	56181	broad.mit.edu	37	1	26156186	26156186	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:26156186G>A	ENST00000374301.3	+	6	946	c.638G>A	c.(637-639)tGt>tAt	p.C213Y	MTFR1L_ENST00000526894.1_Missense_Mutation_p.V154I|RP1-317E23.7_ENST00000606617.1_RNA|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000466284.1_Missense_Mutation_p.V177I|MTFR1L_ENST00000374307.5_Missense_Mutation_p.C201Y|MTFR1L_ENST00000374303.2_Missense_Mutation_p.C213Y|MTFR1L_ENST00000524618.1_Missense_Mutation_p.C116Y|MTFR1L_ENST00000374300.3_Missense_Mutation_p.C213Y|MTFR1L_ENST00000474295.1_Missense_Mutation_p.V177I	NM_019557.5	NP_062457.3	Q9H019	MFR1L_HUMAN	mitochondrial fission regulator 1-like	213																	AGCCCTGAATGTTGCAAACCA	0.517																																						ENST00000466284.1																			0											c.(529-531)Gtt>Att		mitochondrial fission regulator 1-like							129.0	116.0	120.0					1																	26156186		1948	4153	6101	SO:0001583	missense	56181							g.chr1:26156186G>A		CCDS41284.1, CCDS44089.1	1p36.11	2012-11-30	2012-11-29	2012-11-29	ENSG00000117640	ENSG00000117640			28836	protein-coding gene	gene with protein product			"""family with sequence similarity 54, member B"""	FAM54B		8619474, 9110174	Standard	NM_019557		Approved		uc001bkq.4	Q9H019	OTTHUMG00000007377	ENST00000374301.3:c.638G>A	1.37:g.26156186G>A	ENSP00000363419:p.Cys213Tyr					MTFR1L_ENST00000374303.2_Missense_Mutation_p.C213Y|MTFR1L_ENST00000374300.3_Missense_Mutation_p.C213Y|MTFR1L_ENST00000524618.1_Missense_Mutation_p.C116Y|MTFR1L_ENST00000374301.3_Missense_Mutation_p.C213Y|MTFR1L_ENST00000474295.1_Missense_Mutation_p.V177I|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000526894.1_Missense_Mutation_p.V154I|MTFR1L_ENST00000374307.5_Missense_Mutation_p.C201Y	p.V177I							5	2111	+								A6NCB4|B7WNV5|D3DPJ4|Q63HP1|Q7Z2S7|Q9NUI7	Missense_Mutation	SNP	ENST00000374301.3	37	c.529G>A	CCDS41284.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.08|17.08	3.297825|3.297825	0.60086|0.60086	.|.	.|.	ENSG00000117640|ENSG00000117640	ENST00000374303;ENST00000472643;ENST00000524618;ENST00000374307;ENST00000374301;ENST00000374300|ENST00000474295;ENST00000526894;ENST00000466284	T;T;T;T;T;T|T;T;T	0.42131|0.48836	0.98;0.98;0.98;0.98;0.98;0.98|0.8;0.94;0.8	5.65|5.65	4.73|4.73	0.59995|0.59995	.|.	0.380726|.	0.31660|.	N|.	0.007267|.	T|T	0.34600|0.34600	0.0903|0.0903	L|L	0.29908|0.29908	0.895|0.895	0.37412|0.37412	D|D	0.913279|0.913279	B;D;D|B	0.61080|0.02656	0.0;0.986;0.989|0.0	B;P;P|B	0.54856|0.06405	0.003;0.649;0.762|0.002	T|T	0.26849|0.26849	-1.0091|-1.0091	10|9	0.17369|0.35671	T|T	0.5|0.21	0.1572|0.1572	10.2252|10.2252	0.43220|0.43220	0.0706:0.1358:0.7936:0.0|0.0706:0.1358:0.7936:0.0	.|.	246;201;213|177	B4DRE5;Q9H019-3;Q9H019|Q9H019-2	.;.;FA54B_HUMAN|.	Y|I	213;116;116;201;213;213|177;154;177	ENSP00000363421:C213Y;ENSP00000432719:C116Y;ENSP00000435193:C116Y;ENSP00000363426:C201Y;ENSP00000363419:C213Y;ENSP00000363418:C213Y|ENSP00000435461:V177I;ENSP00000432227:V154I;ENSP00000434751:V177I	ENSP00000363418:C213Y|ENSP00000434751:V177I	C|V	+|+	2|1	0|0	FAM54B|FAM54B	26028773|26028773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.208000|3.208000	0.51114|0.51114	1.621000|1.621000	0.50320|0.50320	0.655000|0.655000	0.94253|0.94253	TGT|GTT		0.517	MTFR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019319.1	NM_019557		9	86	0	0	0	1	0	9	86				
CPNE8	144402	broad.mit.edu	37	12	39124119	39124119	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:39124119A>T	ENST00000331366.5	-	11	860	c.764T>A	c.(763-765)cTt>cAt	p.L255H	CPNE8_ENST00000360449.3_Missense_Mutation_p.L243H	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	255						extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CCCTCTAGAAAGTTCCCTATA	0.289																																						ENST00000331366.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(763-765)cTt>cAt		copine VIII							96.0	97.0	97.0					12																	39124119		2203	4295	6498	SO:0001583	missense	144402							g.chr12:39124119A>T	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.764T>A	12.37:g.39124119A>T	ENSP00000329748:p.Leu255His					CPNE8_ENST00000360449.3_Missense_Mutation_p.L243H	p.L255H	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN			11	860	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	255					Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.764T>A	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.591724	0.66219	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.53206	0.63;0.63	4.43	4.43	0.53597	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.078288	0.52532	D	0.000073	T	0.63367	0.2505	M	0.93854	3.465	0.58432	D	0.999998	B	0.24533	0.105	B	0.34418	0.182	T	0.70160	-0.4948	10	0.72032	D	0.01	-10.7725	13.3501	0.60597	1.0:0.0:0.0:0.0	.	255	Q86YQ8	CPNE8_HUMAN	H	255;243	ENSP00000329748:L255H;ENSP00000353633:L243H	ENSP00000329748:L255H	L	-	2	0	CPNE8	37410386	1.000000	0.71417	0.978000	0.43139	0.986000	0.74619	7.432000	0.80349	1.930000	0.55929	0.533000	0.62120	CTT		0.289	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		6	36	0	0	0	1	0	6	36				
COL4A6	1288	broad.mit.edu	37	X	107408111	107408111	+	Silent	SNP	C	C	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:107408111C>A	ENST00000372216.4	-	39	4069	c.3969G>T	c.(3967-3969)ctG>ctT	p.L1323L	COL4A6_ENST00000394872.2_Silent_p.L1323L|COL4A6_ENST00000334504.7_Silent_p.L1322L|COL4A6_ENST00000538570.1_Silent_p.L1298L|COL4A6_ENST00000545689.1_Silent_p.L1298L	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1323	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCGTACCTTTCAGTCCTAGCT	0.597									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(3967-3969)ctG>ctT		collagen, type IV, alpha 6							44.0	44.0	44.0					X																	107408111		2203	4300	6503	SO:0001819	synonymous_variant	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107408111C>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3969G>T	X.37:g.107408111C>A						COL4A6_ENST00000545689.1_Silent_p.L1298L|COL4A6_ENST00000372216.4_Silent_p.L1323L|COL4A6_ENST00000334504.7_Silent_p.L1322L|COL4A6_ENST00000538570.1_Silent_p.L1298L	p.L1323L			Q14031	CO4A6_HUMAN			39	4200	-			1323			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.3969G>T	CCDS14541.1																																																																																				0.597	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			6	25	1	0	0.00116845	1	0.00119974	6	25				
MUC16	94025	broad.mit.edu	37	19	9070920	9070920	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:9070920G>C	ENST00000397910.4	-	3	16729	c.16526C>G	c.(16525-16527)tCt>tGt	p.S5509C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5511	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGCACATAAGAAAAGGCAGT	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(16525-16527)tCt>tGt		mucin 16, cell surface associated							131.0	123.0	126.0					19																	9070920		1993	4174	6167	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070920G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16526C>G	19.37:g.9070920G>C	ENSP00000381008:p.Ser5509Cys						p.S5509C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	16729	-			5511			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.16526C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.006	-0.205029	0.06180	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	2.08	0.951	0.19579	.	.	.	.	.	T	0.06325	0.0163	L	0.29908	0.895	.	.	.	D	0.76494	0.999	D	0.76071	0.987	T	0.31752	-0.9932	8	0.87932	D	0	.	5.7043	0.17899	0.0:0.0:0.6818:0.3182	.	5509	B5ME49	.	C	5509	ENSP00000381008:S5509C	ENSP00000381008:S5509C	S	-	2	0	MUC16	8931920	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.111000	0.15458	0.385000	0.24970	0.306000	0.20318	TCT		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	25	0	0	0	1	0	5	25				
ZBTB40	9923	broad.mit.edu	37	1	22848021	22848021	+	Silent	SNP	C	C	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:22848021C>A	ENST00000375647.4	+	15	3288	c.3081C>A	c.(3079-3081)acC>acA	p.T1027T	ZBTB40_ENST00000374651.4_Silent_p.T915T|ZBTB40_ENST00000404138.1_Silent_p.T1027T|ZBTB40-IT1_ENST00000438551.1_RNA	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1027					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ACAATCGAACCCACCACCCTG	0.502																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(3079-3081)acC>acA		zinc finger and BTB domain containing 40							140.0	116.0	124.0					1																	22848021		2203	4300	6503	SO:0001819	synonymous_variant	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22848021C>A	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.3081C>A	1.37:g.22848021C>A						ZBTB40_ENST00000374651.4_Silent_p.T915T|ZBTB40_ENST00000375647.4_Silent_p.T1027T	p.T1027T	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	16	3592	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	1027					O75066|Q5TFU5|Q8N1R1	Silent	SNP	ENST00000375647.4	37	c.3081C>A	CCDS224.1																																																																																				0.502	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		15	47	1	0	2.31682e-05	1	2.42213e-05	15	47				
DNMBP	23268	broad.mit.edu	37	10	101639891	101639891	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:101639891G>A	ENST00000324109.4	-	16	4316	c.4225C>T	c.(4225-4227)Ccg>Tcg	p.P1409S	DNMBP_ENST00000540316.1_Missense_Mutation_p.P345S|DNMBP_ENST00000543621.1_Missense_Mutation_p.P655S|DNMBP_ENST00000342239.3_Missense_Mutation_p.P1433S	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1409	Ser-rich.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTTTTGGCGGAGGAGATGCA	0.542																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(4297-4299)Ccg>Tcg		dynamin binding protein							189.0	185.0	186.0					10																	101639891		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101639891G>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4225C>T	10.37:g.101639891G>A	ENSP00000315659:p.Pro1409Ser					DNMBP_ENST00000543621.1_Missense_Mutation_p.P655S|DNMBP_ENST00000324109.4_Missense_Mutation_p.P1409S|DNMBP_ENST00000540316.1_Missense_Mutation_p.P345S	p.P1433S			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	16	4388	-		Colorectal(252;0.234)	1409			Ser-rich.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.4297C>T	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	G	4.157	0.027629	0.08054	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	T;T;T;T	0.32988	2.89;2.83;2.52;1.43	5.43	-4.52	0.03472	.	2.398360	0.02512	N	0.091658	T	0.23727	0.0574	L	0.44542	1.39	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.17107	-1.0380	10	0.17369	T	0.5	.	8.3003	0.32010	0.4655:0.1198:0.4147:0.0	.	1409;655;1433	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	S	1433;1409;655;655;345	ENSP00000344914:P1433S;ENSP00000315659:P1409S;ENSP00000443657:P655S;ENSP00000443573:P345S	ENSP00000315659:P1409S	P	-	1	0	DNMBP	101629881	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.244000	0.08903	-0.822000	0.04306	-0.367000	0.07326	CCG		0.542	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		12	125	0	0	0	1	0	12	125				
CSAD	51380	broad.mit.edu	37	12	53563911	53563911	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:53563911C>T	ENST00000444623.1	-	10	915		c.e10-1		CSAD_ENST00000453446.2_Splice_Site|CSAD_ENST00000379843.3_Splice_Site|CSAD_ENST00000379846.1_Splice_Site|CSAD_ENST00000267085.4_Splice_Site|CSAD_ENST00000491654.1_5'Flank	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase						cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	CATTTTCCCTCTGAAAAAGAA	0.527																																					Ovarian(109;252 1546 16882 28524 44645)	ENST00000267085.4																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14						c.e10-1		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						59.0	55.0	57.0					12																	53563911		2203	4300	6503	SO:0001630	splice_region_variant	51380				carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53563911C>T	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.648-1G>A	12.37:g.53563911C>T						CSAD_ENST00000379846.1_Splice_Site|CSAD_ENST00000444623.1_Splice_Site|CSAD_ENST00000453446.2_Splice_Site|CSAD_ENST00000379843.3_Splice_Site		NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN			10	962	-								A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Splice_Site	SNP	ENST00000444623.1	37		CCDS58235.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593985	0.66219	.	.	ENSG00000139631	ENST00000308926;ENST00000379843;ENST00000267085;ENST00000544139;ENST00000379850;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446;ENST00000548698;ENST00000454442	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2276	0.86975	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSAD	51850178	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.355000	0.59424	2.804000	0.96469	0.462000	0.41574	.		0.527	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989	Intron	5	22	0	0	0	1	0	5	22				
MMP2	4313	broad.mit.edu	37	16	55517971	55517971	+	Missense_Mutation	SNP	G	G	A	rs200271857		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:55517971G>A	ENST00000219070.4	+	3	933	c.424G>A	c.(424-426)Gat>Aat	p.D142N	MMP2_ENST00000570308.1_Missense_Mutation_p.D66N|MMP2_ENST00000437642.2_Missense_Mutation_p.D92N|MMP2_ENST00000543485.1_Missense_Mutation_p.D66N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	142	Collagenase-like 1.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GACAGTGGATGATGCCTTTGC	0.498																																						ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(424-426)Gat>Aat		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						221.0	167.0	185.0					16																	55517971		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55517971G>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.424G>A	16.37:g.55517971G>A	ENSP00000219070:p.Asp142Asn					MMP2_ENST00000570308.1_Missense_Mutation_p.D66N|MMP2_ENST00000543485.1_Missense_Mutation_p.D66N|MMP2_ENST00000437642.2_Missense_Mutation_p.D92N	p.D142N	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	3	933	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	142			Collagenase-like 1.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.424G>A	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831221	0.71258	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.80909	-1.43;-1.43;-1.43	4.72	3.76	0.43208	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81688	0.4875	N	0.20445	0.575	0.80722	D	1	D;P	0.89917	1.0;0.711	D;B	0.79108	0.992;0.285	D	0.83852	0.0263	10	0.72032	D	0.01	.	13.5129	0.61524	0.0771:0.0:0.9229:0.0	.	92;142	E9PE45;P08253	.;MMP2_HUMAN	N	142;66;92	ENSP00000219070:D142N;ENSP00000444143:D66N;ENSP00000394237:D92N	ENSP00000219070:D142N	D	+	1	0	MMP2	54075472	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.218000	0.58554	1.115000	0.41800	0.455000	0.32223	GAT		0.498	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			11	77	0	0	0	1	0	11	77				
PFKFB3	5209	broad.mit.edu	37	10	6273225	6273225	+	Intron	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:6273225G>C	ENST00000379775.4	+	15	1845				PFKFB3_ENST00000379782.3_Splice_Site|PFKFB3_ENST00000379789.4_Intron|PFKFB3_ENST00000540253.1_Intron|PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000379785.1_Splice_Site|PFKFB3_ENST00000360521.2_Intron	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CTGCTTGAAAGACGAACTGTC	0.413																																						ENST00000379785.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						c.e16-1		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3							75.0	76.0	75.0					10																	6273225		876	1991	2867	SO:0001627	intron_variant	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6273225G>C		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.1516-1633G>C	10.37:g.6273225G>C						PFKFB3_ENST00000540253.1_Intron|PFKFB3_ENST00000379789.4_Intron|PFKFB3_ENST00000379775.4_Intron|PFKFB3_ENST00000360521.2_Intron|PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000379782.3_Splice_Site				Q16875	F263_HUMAN			16	1933	+								B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Splice_Site	SNP	ENST00000379775.4	37		CCDS7078.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352221	0.61183	.	.	ENSG00000170525	ENST00000379785;ENST00000379782	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4734	0.75458	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PFKFB3	6313231	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.629000	0.67798	2.498000	0.84270	0.561000	0.74099	.		0.413	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			6	42	0	0	0	1	0	6	42				
NXF1	10482	broad.mit.edu	37	11	62567851	62567851	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:62567851G>A	ENST00000532297.1	-	11	1643	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	NXF1_ENST00000531131.1_Silent_p.I201I|NXF1_ENST00000531709.2_Silent_p.I338I|NXF1_ENST00000294172.2_Silent_p.I338I|NXF1_ENST00000439713.2_Silent_p.I338I			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	338					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAACTGACCTGATGTAGGTGG	0.582																																						ENST00000531709.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1012-1014)atC>atT		nuclear RNA export factor 1							139.0	98.0	112.0					11																	62567851		2201	4299	6500	SO:0001819	synonymous_variant	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62567851G>A	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1014C>T	11.37:g.62567851G>A						NXF1_ENST00000294172.2_Silent_p.I338I|NXF1_ENST00000532297.1_Silent_p.I338I|NXF1_ENST00000439713.2_Silent_p.I338I|NXF1_ENST00000531131.1_5'UTR	p.I338I	NM_001081491.1	NP_001074960.1	Q9UBU9	NXF1_HUMAN			10	1127	-			338			Interaction with THOC4.		B4E269|Q99799|Q9UQL2	Silent	SNP	ENST00000532297.1	37	c.1014C>T	CCDS8037.1																																																																																				0.582	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		5	32	0	0	0	1	0	5	32				
KDM4A	9682	broad.mit.edu	37	1	44169343	44169343	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:44169343G>C	ENST00000372396.3	+	20	3031	c.2897G>C	c.(2896-2898)aGa>aCa	p.R966T	KDM4A-AS1_ENST00000434346.1_RNA|KDM4A-AS1_ENST00000453015.1_RNA|KDM4A-AS1_ENST00000418149.1_RNA|KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	966	Tudor 2.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GTCCAAGTGAGATGGACAGAC	0.542																																						ENST00000372396.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(2896-2898)aGa>aCa		lysine (K)-specific demethylase 4A							178.0	166.0	170.0					1																	44169343		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44169343G>C	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2897G>C	1.37:g.44169343G>C	ENSP00000361473:p.Arg966Thr					KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000453015.1_RNA|KDM4A-AS1_ENST00000434346.1_RNA	p.R966T	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN			20	3031	+			966			Tudor 2.		Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.2897G>C	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942036	0.73557	.	.	ENSG00000066135	ENST00000372396	T	0.51574	0.7	6.17	6.17	0.99709	Tudor domain (1);	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	M	0.65498	2.005	0.54753	D	0.999988	D	0.63880	0.993	P	0.53954	0.738	T	0.63444	-0.6636	10	0.66056	D	0.02	-18.2446	20.8794	0.99867	0.0:0.0:1.0:0.0	.	966	O75164	KDM4A_HUMAN	T	966	ENSP00000361473:R966T	ENSP00000361473:R966T	R	+	2	0	KDM4A	43941930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.779000	0.99018	2.941000	0.99782	0.655000	0.94253	AGA		0.542	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		13	66	0	0	0	1	0	13	66				
KIF3C	3797	broad.mit.edu	37	2	26152259	26152259	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr2:26152259G>A	ENST00000264712.3	-	7	2782	c.2203C>T	c.(2203-2205)Cgt>Tgt	p.R735C	KIF3C_ENST00000496378.1_5'Flank|KIF3C_ENST00000405914.1_Missense_Mutation_p.R735C	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	735	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTAGCGCACGAGGGTCTTGT	0.498																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2203-2205)Cgt>Tgt		kinesin family member 3C							116.0	107.0	110.0					2																	26152259		2203	4300	6503	SO:0001583	missense	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26152259G>A		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.2203C>T	2.37:g.26152259G>A	ENSP00000264712:p.Arg735Cys					KIF3C_ENST00000405914.1_Missense_Mutation_p.R735C	p.R735C	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			7	2782	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		735			Globular (Potential).		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	c.2203C>T	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535602	0.85812	.	.	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.73789	-0.78;-0.78	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000003	T	0.74160	0.3680	N	0.08118	0	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.78760	-0.2078	10	0.51188	T	0.08	.	17.3867	0.87418	0.0:0.0:1.0:0.0	.	733;735	B7ZM25;O14782	.;KIF3C_HUMAN	C	735;541;735	ENSP00000264712:R735C;ENSP00000385030:R735C	ENSP00000264712:R735C	R	-	1	0	KIF3C	26005763	1.000000	0.71417	0.978000	0.43139	0.983000	0.72400	6.398000	0.73244	2.702000	0.92279	0.462000	0.41574	CGT		0.498	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			9	43	0	0	0	1	0	9	43				
STAG3	10734	broad.mit.edu	37	7	99799597	99799597	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr7:99799597G>A	ENST00000426455.1	+	23	2734	c.2327G>A	c.(2326-2328)aGa>aAa	p.R776K	GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.R776K|STAG3_ENST00000394018.2_Missense_Mutation_p.R718K|STAG3_ENST00000440830.1_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	776					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGAGGGACAGAATGGTGGCC	0.522																																						ENST00000426455.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(2326-2328)aGa>aAa		stromal antigen 3							117.0	106.0	110.0					7																	99799597		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99799597G>A	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2327G>A	7.37:g.99799597G>A	ENSP00000400359:p.Arg776Lys					STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.R718K|STAG3_ENST00000317296.5_Missense_Mutation_p.R776K|GATS_ENST00000436886.2_3'UTR	p.R776K			Q9UJ98	STAG3_HUMAN			23	2734	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		776					A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.2327G>A	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	10.81	1.456618	0.26161	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000317296	T;T;T	0.16073	2.37;2.37;2.37	5.45	3.39	0.38822	Armadillo-like helical (1);Armadillo-type fold (1);	0.245628	0.28555	N	0.014927	T	0.07098	0.0180	N	0.05510	-0.035	0.20307	N	0.999911	B;B	0.11235	0.004;0.0	B;B	0.10450	0.005;0.001	T	0.32188	-0.9916	10	0.21014	T	0.42	-9.1017	5.2391	0.15462	0.2857:0.0:0.7143:0.0	.	718;776	B4DZ10;Q9UJ98	.;STAG3_HUMAN	K	776;718;776	ENSP00000400359:R776K;ENSP00000377586:R718K;ENSP00000319318:R776K	ENSP00000319318:R776K	R	+	2	0	STAG3	99637533	0.193000	0.23313	0.911000	0.35937	0.704000	0.40688	1.813000	0.38962	1.312000	0.45043	0.563000	0.77884	AGA		0.522	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		22	60	0	0	0	1	0	22	60				
TMEM63A	9725	broad.mit.edu	37	1	226055729	226055729	+	Splice_Site	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:226055729C>T	ENST00000366835.3	-	7	643	c.373G>A	c.(373-375)Gat>Aat	p.D125N	TMEM63A_ENST00000474478.1_5'Flank|TMEM63A_ENST00000537914.1_5'Flank	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	125					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					ATCTGGTCATCACTGGCCAAG	0.522																																						ENST00000366835.3																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.e7-1		transmembrane protein 63A							133.0	103.0	113.0					1																	226055729		2203	4300	6503	SO:0001630	splice_region_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226055729C>T		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.372-1G>A	1.37:g.226055729C>T							p.D125_splice	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			7	643	-	Breast(184;0.197)		125					Q53GI7|Q5TE96|Q8N2U2	Splice_Site	SNP	ENST00000366835.3	37	c.371_splice	CCDS31042.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445844	0.84101	.	.	ENSG00000196187	ENST00000366835	T	0.52295	0.67	5.91	5.91	0.95273	.	0.044485	0.85682	D	0.000000	T	0.67627	0.2913	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.981	T	0.65890	-0.6058	10	0.52906	T	0.07	-23.0248	19.0725	0.93145	0.0:1.0:0.0:0.0	.	125;125	B3KMR6;O94886	.;TM63A_HUMAN	N	125	ENSP00000355800:D125N	ENSP00000355800:D125N	D	-	1	0	TMEM63A	224122352	1.000000	0.71417	0.345000	0.25642	0.780000	0.44128	4.817000	0.62650	2.804000	0.96469	0.650000	0.86243	GAT		0.522	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698	Missense_Mutation	11	40	0	0	0	1	0	11	40				
SLC35B1	10237	broad.mit.edu	37	17	47785214	47785214	+	5'UTR	SNP	G	G	C	rs375205924		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:47785214G>C	ENST00000240333.6	-	0	103				RP11-613C6.2_ENST00000512720.1_RNA|SLC35B1_ENST00000415270.2_Silent_p.V31V			P78383	S35B1_HUMAN	solute carrier family 35, member B1						transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						CAGAGGAGCCGACTGGAGACC	0.677											OREG0024545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000415270.2																			0				endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						c.(91-93)gtC>gtG		solute carrier family 35, member B1							13.0	19.0	17.0					17																	47785214		2201	4298	6499	SO:0001623	5_prime_UTR_variant	10237					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	g.chr17:47785214G>C	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.-19C>G	17.37:g.47785214G>C			OREG0024545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	949	SLC35B1_ENST00000240333.6_5'UTR	p.V31V	NM_005827.1	NP_005818.1	P78383	S35B1_HUMAN			1	99	-			0					B4DEC4|J3KQV4|Q96EW7	Silent	SNP	ENST00000240333.6	37	c.93C>G	CCDS11552.1																																																																																				0.677	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827		4	15	0	0	0	1	0	4	15				
MDC1	9656	broad.mit.edu	37	6	30673794	30673794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:30673794G>A	ENST00000376406.3	-	10	3813	c.3166C>T	c.(3166-3168)Cag>Tag	p.Q1056*	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Nonsense_Mutation_p.Q792*	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1056	Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TTCTGGCTCTGAGAGTTAAGG	0.537								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(3166-3168)Cag>Tag	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							76.0	88.0	84.0					6																	30673794		2203	4300	6503	SO:0001587	stop_gained	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30673794G>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3166C>T	6.37:g.30673794G>A	ENSP00000365588:p.Gln1056*					MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Nonsense_Mutation_p.Q792*	p.Q1056*	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	3813	-			1056	Missing (in Ref. 2; CAH18685).		Pro-rich.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Nonsense_Mutation	SNP	ENST00000376406.3	37	c.3166C>T	CCDS34384.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.23|16.23	3.064864|3.064864	0.55432|0.55432	.|.	.|.	ENSG00000137337|ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104|ENST00000417033	.|T	.|0.20069	.|2.1	4.62|4.62	4.62|4.62	0.57501|0.57501	.|.	0.000000|.	0.33792|.	N|.	0.004554|.	.|T	.|0.25082	.|0.0609	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.02539	.|-1.1144	.|5	0.33940|0.62326	T|D	0.23|0.03	0.0144|0.0144	12.9127|12.9127	0.58189|0.58189	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1056;792;1056;663|116	.|ENSP00000408962:S116L	ENSP00000365587:Q792X|ENSP00000408962:S116L	Q|S	-|-	1|2	0|0	MDC1|MDC1	30781773|30781773	0.999000|0.999000	0.42202|0.42202	0.613000|0.613000	0.29037|0.29037	0.071000|0.071000	0.16799|0.16799	4.027000|4.027000	0.57239|0.57239	2.428000|2.428000	0.82296|0.82296	0.444000|0.444000	0.29173|0.29173	CAG|TCA		0.537	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		13	77	0	0	0	1	0	13	77				
SCAP	22937	broad.mit.edu	37	3	47476622	47476622	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:47476622G>C	ENST00000265565.5	-	3	540	c.128C>G	c.(127-129)cCa>cGa	p.P43R	SCAP_ENST00000441517.2_5'UTR|SCAP_ENST00000545718.1_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	43					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TTTCAGCAGTGGGTAGCTGGG	0.498																																					Pancreas(149;978 1908 29304 37806 46700)	ENST00000265565.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(127-129)cCa>cGa		SREBF chaperone							73.0	70.0	71.0					3																	47476622		2203	4300	6503	SO:0001583	missense	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47476622G>C	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.128C>G	3.37:g.47476622G>C	ENSP00000265565:p.Pro43Arg					SCAP_ENST00000441517.2_5'UTR|SCAP_ENST00000545718.1_5'UTR	p.P43R	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	3	540	-			43					Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	c.128C>G	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865378	0.91511	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000416847;ENST00000495603;ENST00000448217	D	0.86030	-2.06	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.92456	0.7605	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92812	0.6265	10	0.62326	D	0.03	-16.7455	18.3633	0.90382	0.0:0.0:1.0:0.0	.	43	Q12770	SCAP_HUMAN	R	43	ENSP00000265565:P43R	ENSP00000265565:P43R	P	-	2	0	SCAP	47451626	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.173000	0.94815	2.672000	0.90937	0.462000	0.41574	CCA		0.498	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		5	26	0	0	0	1	0	5	26				
CASP8	841	broad.mit.edu	37	2	202149973	202149973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr2:202149973C>T	ENST00000432109.2	+	9	1426	c.1237C>T	c.(1237-1239)Cga>Tga	p.R413*	CASP8_ENST00000264275.5_Nonsense_Mutation_p.R430*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R329*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000358485.4_Nonsense_Mutation_p.R472*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R398*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	413					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|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 extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGTTTCCTACCGAAACCCTGC	0.488										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1414-1416)Cga>Tga		caspase 8, apoptosis-related cysteine peptidase							75.0	68.0	71.0					2																	202149973		2203	4300	6503	SO:0001587	stop_gained	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202149973C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1237C>T	2.37:g.202149973C>T	ENSP00000412523:p.Arg413*	HNSCC(4;0.00038)				CASP8_ENST00000264274.9_Nonsense_Mutation_p.R329*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R430*|CASP8_ENST00000432109.2_Nonsense_Mutation_p.R413*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R398*	p.R472*	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1610	+			413					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.1414C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503402	0.85176	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2071	0.65741	0.1588:0.8412:0.0:0.0	.	.	.	.	X	398;329;413;430;472;398;192	.	ENSP00000264274:R329X	R	+	1	2	CASP8	201858218	0.992000	0.36948	0.993000	0.49108	0.271000	0.26615	2.379000	0.44318	2.655000	0.90218	0.561000	0.74099	CGA		0.488	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		20	34	0	0	0	1	0	20	34				
SIN3B	23309	broad.mit.edu	37	19	16963895	16963895	+	Missense_Mutation	SNP	C	C	A	rs551562375		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:16963895C>A	ENST00000248054.5	+	7	886	c.865C>A	c.(865-867)Cgt>Agt	p.R289S	SIN3B_ENST00000379803.1_Missense_Mutation_p.R289S|SIN3B_ENST00000596802.1_Missense_Mutation_p.R289S					SIN3 transcription regulator family member B									p.R289C(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AATGAAACTTCGTGGTACCAA	0.512																																						ENST00000379803.1																			1	Substitution - Missense(1)	p.R289C(1)	large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(865-867)Cgt>Agt		SIN3 transcription regulator family member B							104.0	98.0	100.0					19																	16963895		2203	4300	6503	SO:0001583	missense	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16963895C>A	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.865C>A	19.37:g.16963895C>A	ENSP00000248054:p.Arg289Ser					SIN3B_ENST00000596802.1_Missense_Mutation_p.R289S|SIN3B_ENST00000248054.5_Missense_Mutation_p.R289S	p.R289S	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			7	879	+			289			Interaction with NCOR1 (By similarity).			Missense_Mutation	SNP	ENST00000248054.5	37	c.865C>A		.	.	.	.	.	.	.	.	.	.	C	4.820	0.152422	0.09185	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.42900	0.96;0.98	4.89	4.89	0.63831	.	0.122807	0.56097	D	0.000028	T	0.19248	0.0462	N	0.04203	-0.255	0.09310	N	0.999999	B;B;B	0.31548	0.097;0.031;0.328	B;B;B	0.28849	0.095;0.014;0.089	T	0.11567	-1.0582	10	0.08179	T	0.78	-26.3527	13.7163	0.62697	0.1544:0.8456:0.0:0.0	.	289;289;289	O75182-2;O75182;O75182-3	.;SIN3B_HUMAN;.	S	289	ENSP00000369131:R289S;ENSP00000248054:R289S	ENSP00000248054:R289S	R	+	1	0	SIN3B	16824895	0.865000	0.29922	0.855000	0.33649	0.206000	0.24218	1.379000	0.34340	2.266000	0.75297	0.462000	0.41574	CGT		0.512	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260		19	43	1	0	1.56452e-12	1	1.75532e-12	19	43				
H6PD	9563	broad.mit.edu	37	1	9322255	9322255	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:9322255C>G	ENST00000377403.2	+	4	1185	c.883C>G	c.(883-885)Cag>Gag	p.Q295E	H6PD_ENST00000602477.1_Missense_Mutation_p.Q306E	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	295	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		GCACAAGCTTCAGGTCTTCCA	0.642																																						ENST00000377403.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(883-885)Cag>Gag		hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	NADH(DB00157)						48.0	47.0	47.0					1																	9322255		2203	4300	6503	SO:0001583	missense	9563					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding	g.chr1:9322255C>G	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.883C>G	1.37:g.9322255C>G	ENSP00000366620:p.Gln295Glu					H6PD_ENST00000602477.1_Missense_Mutation_p.Q306E	p.Q295E	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	4	1185	+	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	295			Glucose 1-dehydrogenase.		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	ENST00000377403.2	37	c.883C>G	CCDS101.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359521	0.24598	.	.	ENSG00000049239	ENST00000377403	D	0.99803	-6.82	5.25	3.22	0.36961	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.348194	0.34750	N	0.003715	D	0.98040	0.9354	N	0.20685	0.6	0.23930	N	0.996433	B	0.06786	0.001	B	0.12156	0.007	D	0.97124	0.9813	10	0.42905	T	0.14	-15.4062	5.2135	0.15331	0.1463:0.6324:0.142:0.0793	.	295	O95479	G6PE_HUMAN	E	295	ENSP00000366620:Q295E	ENSP00000366620:Q295E	Q	+	1	0	H6PD	9244842	0.351000	0.24887	0.748000	0.31131	0.964000	0.63967	0.779000	0.26746	1.187000	0.43000	0.561000	0.74099	CAG		0.642	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285		5	34	0	0	0	1	0	5	34				
GSE1	23199	broad.mit.edu	37	16	85691140	85691140	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:85691140G>C	ENST00000253458.7	+	8	1746	c.1570G>C	c.(1570-1572)Gag>Cag	p.E524Q	RN7SL381P_ENST00000577658.1_RNA|GSE1_ENST00000405402.2_Missense_Mutation_p.E420Q|GSE1_ENST00000393243.1_Missense_Mutation_p.E451Q	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	524																	GCAGGTGCTGGAGCAGCACCT	0.687																																						ENST00000253458.7																			0											c.(1570-1572)Gag>Cag		Gse1 coiled-coil protein							12.0	15.0	14.0					16																	85691140		2168	4281	6449	SO:0001583	missense	23199							g.chr16:85691140G>C	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.1570G>C	16.37:g.85691140G>C	ENSP00000253458:p.Glu524Gln					GSE1_ENST00000393243.1_Missense_Mutation_p.E451Q|GSE1_ENST00000405402.2_Missense_Mutation_p.E420Q	p.E524Q	NM_014615.2	NP_055430.1					8	1746	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.1570G>C	CCDS10952.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.313832|4.313832	0.81358|0.81358	.|.	.|.	ENSG00000131149|ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243|ENST00000412692	T;T;T|.	0.72282|.	-0.64;-0.64;-0.64|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72078|0.72078	0.3416|0.3416	L|L	0.58101|0.58101	1.795|1.795	0.54753|0.54753	D|D	0.999981|0.999981	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.76071|.	0.987;0.971|.	T|T	0.70285|0.70285	-0.4914|-0.4914	10|5	0.36615|.	T|.	0.2|.	-29.4069|-29.4069	18.4259|18.4259	0.90608|0.90608	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	451;524|.	Q14687-3;Q14687|.	.;GSE1_HUMAN|.	Q|C	420;524;451|330	ENSP00000384839:E420Q;ENSP00000253458:E524Q;ENSP00000376934:E451Q|.	ENSP00000253458:E524Q|.	E|W	+|+	1|3	0|0	KIAA0182|KIAA0182	84248641|84248641	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.819000|0.819000	0.46315|0.46315	7.417000|7.417000	0.80156|0.80156	2.367000|2.367000	0.80283|0.80283	0.561000|0.561000	0.74099|0.74099	GAG|TGG		0.687	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		4	17	0	0	0	1	0	4	17				
SYNE1	23345	broad.mit.edu	37	6	152665261	152665261	+	Missense_Mutation	SNP	C	C	A	rs4645434	byFrequency	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:152665261C>A	ENST00000367255.5	-	74	12781	c.12180G>T	c.(12178-12180)gaG>gaT	p.E4060D	SYNE1_ENST00000341594.5_Missense_Mutation_p.E3925D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4060D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3989D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E3989D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4060			E -> D (in dbSNP:rs4645434).		cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E4060D(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGGACTTGGCTCTAAATCCG	0.498										HNSCC(10;0.0054)			C|||	2732	0.545527	0.4138	0.6182	5008	,	,		18310	0.6488		0.6024	False		,,,				2504	0.5072					ENST00000367255.5																			3	Substitution - Missense(3)	p.E4060D(3)	skin(2)|central_nervous_system(1)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(12178-12180)gaG>gaT		spectrin repeat containing, nuclear envelope 1		C	ASP/GLU,ASP/GLU	2065,2341	569.8+/-382.7	487,1091,625	106.0	102.0	103.0		11967,12180	-1.2	0.0	6	dbSNP_111	103	5313,3287	647.1+/-400.3	1664,1985,651	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	45,45	2151,3076,1276	AA,AC,CC		38.2209,46.8679,43.2723	benign,benign	3989/8750,4060/8798	152665261	7378,5628	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152665261C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12180G>T	6.37:g.152665261C>A	ENSP00000356224:p.Glu4060Asp	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.E4060D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3925D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E3989D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3989D	p.E4060D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	74	12781	-		Ovarian(120;0.0955)	4060		E -> D (in dbSNP:rs4645434).			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.12180G>T	CCDS5236.2	1271	0.581959706959707	217	0.4410569105691057	222	0.6132596685082873	373	0.6520979020979021	459	0.6055408970976254	C	6.405	0.442830	0.12164	0.468679	0.617791	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.76	-1.25	0.09405	.	0.176957	0.39341	N	0.001392	T	0.05914	0.0154	N	0.14661	0.345	0.22911	P	0.99857779	B;B;B;B	0.28208	0.203;0.203;0.203;0.082	B;B;B;B	0.24541	0.031;0.031;0.031;0.054	T	0.36187	-0.9758	9	0.11182	T	0.66	.	10.9634	0.47397	0.0:0.4861:0.0:0.5139	rs4645434;rs52832929;rs56482475;rs57199459;rs4645434	4060;4060;4060;3989	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	D	4060;3989;4060;3989;3925	ENSP00000356224:E4060D;ENSP00000396024:E3989D;ENSP00000265368:E4060D;ENSP00000390975:E3989D;ENSP00000341887:E3925D	ENSP00000265368:E4060D	E	-	3	2	SYNE1	152706954	0.996000	0.38824	0.016000	0.15963	0.190000	0.23558	0.426000	0.21363	-0.234000	0.09782	-0.749000	0.03505	GAG		0.498	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		4	60	1	0	0.00024832	1	0.000257268	4	60				
LINC00969	440993	broad.mit.edu	37	3	195395399	195395399	+	lincRNA	SNP	G	G	A	rs62287990	byFrequency	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:195395399G>A	ENST00000445430.1	+	0	806									long intergenic non-protein coding RNA 969																		GGCTACGGGCGCACCTACTTG	0.607																																						ENST00000445430.1																			0																																																			440993							g.chr3:195395399G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395399G>A														0	806	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.607	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			6	59	0	0	0	1	0	6	59				
SERPINA5	5104	broad.mit.edu	37	14	95057231	95057231	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:95057231G>A	ENST00000554866.1	+	4	1150	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	SERPINA5_ENST00000554276.1_Missense_Mutation_p.E346K|SERPINA5_ENST00000329597.7_Missense_Mutation_p.E346K|SERPINA5_ENST00000553780.1_Missense_Mutation_p.E346K|RP11-986E7.7_ENST00000553947.1_5'Flank			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	346					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCAGGTGTCTGAGGTGGGTTC	0.483																																						ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(1036-1038)Gag>Aag		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						98.0	85.0	90.0					14																	95057231		2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95057231G>A	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.1036G>A	14.37:g.95057231G>A	ENSP00000451126:p.Glu346Lys					SERPINA5_ENST00000553780.1_Missense_Mutation_p.E346K|SERPINA5_ENST00000554276.1_Missense_Mutation_p.E346K|SERPINA5_ENST00000554866.1_Missense_Mutation_p.E346K	p.E346K	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	5	1246	+			346					Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.1036G>A	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	G	0.090	-1.169375	0.01660	.	.	ENSG00000188488	ENST00000553780;ENST00000554866;ENST00000329597;ENST00000554506;ENST00000537685;ENST00000438291;ENST00000554276	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	4.13	2.21	0.28008	Serpin domain (3);	0.276259	0.29046	N	0.013311	T	0.59293	0.2183	N	0.17922	0.545	0.24673	N	0.993402	B	0.15141	0.012	B	0.23574	0.047	T	0.33394	-0.9870	10	0.10377	T	0.69	.	2.726	0.05214	0.2632:0.2778:0.459:0.0	.	346	P05154	IPSP_HUMAN	K	346;346;346;122;198;270;346	ENSP00000450837:E346K;ENSP00000451126:E346K;ENSP00000333203:E346K;ENSP00000451610:E346K	ENSP00000333203:E346K	E	+	1	0	SERPINA5	94126984	0.734000	0.28142	0.998000	0.56505	0.275000	0.26752	1.164000	0.31810	1.020000	0.39573	0.555000	0.69702	GAG		0.483	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		5	55	0	0	0	1	0	5	55				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		6	33	0	0	0	1	0	6	33				
PARPBP	55010	broad.mit.edu	37	12	102569390	102569390	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:102569390C>T	ENST00000358383.5	+	7	996	c.951C>T	c.(949-951)atC>atT	p.I317I	PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000327680.2_Silent_p.I236I|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000541394.1_Silent_p.I394I|PARPBP_ENST00000392911.2_Silent_p.I236I			Q9NWS1	PARI_HUMAN	PARP1 binding protein	317					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						AAAATATTATCAATTCTCAAG	0.353																																						ENST00000327680.2																			0				endometrium(1)|lung(8)|urinary_tract(2)	11						c.(706-708)atC>atT		PARP1 binding protein							84.0	89.0	88.0					12																	102569390		2203	4300	6503	SO:0001819	synonymous_variant	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102569390C>T	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.951C>T	12.37:g.102569390C>T						PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000358383.5_Silent_p.I317I|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000541394.1_Silent_p.I394I|PARPBP_ENST00000392911.2_Silent_p.I236I	p.I236I	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN			8	1171	+			317					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Silent	SNP	ENST00000358383.5	37	c.708C>T	CCDS9090.2																																																																																				0.353	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915		5	31	0	0	0	1	0	5	31				
TP53	7157	broad.mit.edu	37	17	7577090	7577090	+	Missense_Mutation	SNP	C	C	T	rs371409680		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:7577090C>T	ENST00000269305.4	-	8	1037	c.848G>A	c.(847-849)cGc>cAc	p.R283H	TP53_ENST00000420246.2_Missense_Mutation_p.R283H|TP53_ENST00000359597.4_Missense_Mutation_p.R283H|TP53_ENST00000455263.2_Missense_Mutation_p.R283H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R283H	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	283	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(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)	TTCCTCTGTGCGCCGGTCTCT	0.562		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"""		73	Substitution - Missense(44)|Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(2)|Unknown(2)|Complex - deletion inframe(1)	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)	lung(13)|upper_aerodigestive_tract(10)|urinary_tract(9)|haematopoietic_and_lymphoid_tissue(6)|large_intestine(5)|breast(5)|ovary(4)|bone(4)|stomach(3)|central_nervous_system(3)|oesophagus(3)|pancreas(2)|autonomic_ganglia(2)|liver(2)|cervix(1)|biliary_tract(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	CM021154	TP53	M		c.(847-849)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	86.0	73.0	78.0		848,848,848,848,452,452,452	4.0	0.0	17		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	283/394,283/394,283/347,283/342,151/262,151/210,151/215	7577090	1,13005	2203	4300	6503	SO:0001583	missense	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.chr17:7577090C>T	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.848G>A	17.37:g.7577090C>T	ENSP00000269305:p.Arg283His	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_Missense_Mutation_p.R283H|TP53_ENST00000269305.4_Missense_Mutation_p.R283H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R283H|TP53_ENST00000455263.2_Missense_Mutation_p.R283H	p.R283H	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)	8	980	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	283		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.848G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796855	0.70567	0.0	1.16E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	4.99	4.02	0.46733	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.056377	0.64402	D	0.000003	D	0.99622	0.9862	M	0.78049	2.395	0.26662	N	0.971893	P;D;P;P	0.76494	0.934;0.999;0.952;0.947	P;D;P;P	0.65773	0.69;0.938;0.838;0.838	D	0.98465	1.0598	10	0.87932	D	0	-4.3612	11.3481	0.49573	0.0:0.9114:0.0:0.0886	.	283;283;283;283	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	283;283;283;283;283;272;151	ENSP00000352610:R283H;ENSP00000269305:R283H;ENSP00000398846:R283H;ENSP00000391127:R283H;ENSP00000391478:R283H;ENSP00000425104:R151H	ENSP00000269305:R283H	R	-	2	0	TP53	7517815	0.998000	0.40836	0.015000	0.15790	0.873000	0.50193	3.584000	0.53936	1.318000	0.45170	0.462000	0.41574	CGC		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	44	0	0	0	1	0	6	44				
CYP4F2	8529	broad.mit.edu	37	19	15996792	15996792	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:15996792G>A	ENST00000221700.6	-	9	1152	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	CYP4F2_ENST00000011989.7_Silent_p.S181S	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGCCGGCAGCGCTCCTGGTAT	0.582																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1057-1059)Cgc>Tgc		cytochrome P450, family 4, subfamily F, polypeptide 2							100.0	88.0	92.0					19																	15996792		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15996792G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1057C>T	19.37:g.15996792G>A	ENSP00000221700:p.Arg353Cys					CYP4F2_ENST00000011989.7_Silent_p.S181S|CYP4F2_ENST00000592328.1_Missense_Mutation_p.R353C	p.R353C	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			9	1152	-			353						Missense_Mutation	SNP	ENST00000221700.6	37	c.1057C>T	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	g	5.155	0.214233	0.09810	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.71461	-0.57	2.63	1.56	0.23342	.	0.785759	0.10683	U	0.646165	T	0.71417	0.3337	M	0.89353	3.025	0.80722	D	1	B	0.22346	0.068	B	0.25884	0.064	T	0.69026	-0.5254	10	0.66056	D	0.02	.	3.359	0.07179	0.1484:0.0:0.6009:0.2507	.	353	P78329	CP4F2_HUMAN	C	353;204	ENSP00000221700:R353C	ENSP00000221700:R353C	R	-	1	0	CYP4F2	15857792	0.298000	0.24417	1.000000	0.80357	0.063000	0.16089	2.219000	0.42899	0.419000	0.25927	0.313000	0.20887	CGC		0.582	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		17	60	0	0	0	1	0	17	60				
ZGPAT	84619	broad.mit.edu	37	20	62339987	62339987	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr20:62339987C>T	ENST00000328969.5	+	2	182	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	ZGPAT_ENST00000369967.3_Nonsense_Mutation_p.Q19*|ZGPAT_ENST00000448100.2_Nonsense_Mutation_p.Q19*|ARFRP1_ENST00000359715.5_5'Flank|RP4-583P15.15_ENST00000490623.2_5'Flank|ARFRP1_ENST00000324228.2_5'Flank|ZGPAT_ENST00000355969.6_Nonsense_Mutation_p.Q19*|ARFRP1_ENST00000609142.1_5'Flank|ARFRP1_ENST00000607873.1_5'Flank|ARFRP1_ENST00000440854.1_5'Flank|ZGPAT_ENST00000357119.4_Nonsense_Mutation_p.Q19*	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	19					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCAGCTGCAGCAGGTGGAGCT	0.662																																						ENST00000328969.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14						c.(55-57)Cag>Tag		zinc finger, CCCH-type with G patch domain							25.0	28.0	27.0					20																	62339987		2199	4287	6486	SO:0001587	stop_gained	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62339987C>T	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.55C>T	20.37:g.62339987C>T	ENSP00000332013:p.Gln19*					ZGPAT_ENST00000448100.1_Nonsense_Mutation_p.Q19*|ZGPAT_ENST00000355969.6_Nonsense_Mutation_p.Q19*|ZGPAT_ENST00000369967.3_Nonsense_Mutation_p.Q19*|ZGPAT_ENST00000357119.4_Nonsense_Mutation_p.Q19*|ZGPAT_ENST00000490623.1_3'UTR	p.Q19*	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN			2	182	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		19					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Nonsense_Mutation	SNP	ENST00000328969.5	37	c.55C>T	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	C	38	6.681905	0.97759	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000431125;ENST00000369967;ENST00000328969	.	.	.	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	5.211	10.572	0.45206	0.0:0.9107:0.0:0.0893	.	.	.	.	X	19	.	ENSP00000332013:Q19X	Q	+	1	0	ZGPAT	61810431	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.148000	0.64857	1.978000	0.57642	0.561000	0.74099	CAG		0.662	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		8	58	0	0	0	1	0	8	58				
GYG2	8908	broad.mit.edu	37	X	2793874	2793874	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:2793874G>C	ENST00000381163.3	+	10	1437	c.1155G>C	c.(1153-1155)gaG>gaC	p.E385D	GYG2_ENST00000338623.5_Missense_Mutation_p.E385D|GYG2_ENST00000542787.1_Intron|GYG2_ENST00000381161.1_Intron|GYG2_ENST00000398806.3_Missense_Mutation_p.E354D	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	385					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		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)				CTGAAACTGAGACTCCTGCCG	0.433																																						ENST00000381163.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(1153-1155)gaG>gaC		glycogenin 2							119.0	87.0	98.0					X																	2793874		2203	4299	6502	SO:0001583	missense	8908				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	g.chrX:2793874G>C	U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.1155G>C	X.37:g.2793874G>C	ENSP00000370555:p.Glu385Asp					GYG2_ENST00000542787.1_Intron|GYG2_ENST00000338623.5_Missense_Mutation_p.E385D|GYG2_ENST00000398806.3_Missense_Mutation_p.E354D|GYG2_ENST00000381161.1_Intron	p.E385D	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN			10	1437	+		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)	385					B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	ENST00000381163.3	37	c.1155G>C	CCDS14121.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.05|13.05	2.122014|2.122014	0.37436|0.37436	.|.	.|.	ENSG00000056998|ENSG00000056998	ENST00000381157|ENST00000398806;ENST00000381163;ENST00000338623	.|T;T;T	.|0.54071	.|0.59;0.89;1.28	2.22|2.22	2.22|2.22	0.28083|0.28083	.|.	.|0.283139	.|0.23440	.|N	.|0.048154	T|T	0.52191|0.52191	0.1719|0.1719	L|L	0.27053|0.27053	0.805|0.805	0.23293|0.23293	N|N	0.997965|0.997965	.|D;D;P;P;P	.|0.61697	.|0.99;0.972;0.816;0.782;0.808	.|P;D;B;B;B	.|0.70935	.|0.719;0.971;0.162;0.242;0.206	T|T	0.31503|0.31503	-0.9941|-0.9941	5|10	.|0.31617	.|T	.|0.26	.|.	7.5401|7.5401	0.27733|0.27733	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|385;345;354;354;385	.|O15488-6;O15488-3;A8K8Y1;O15488-2;O15488	.|.;.;.;.;GLYG2_HUMAN	H|D	204|354;385;385	.|ENSP00000381786:E354D;ENSP00000370555:E385D;ENSP00000341273:E385D	.|ENSP00000341273:E385D	D|E	+|+	1|3	0|2	GYG2|GYG2	2803874|2803874	0.444000|0.444000	0.25649|0.25649	0.016000|0.016000	0.15963|0.15963	0.005000|0.005000	0.04900|0.04900	2.135000|2.135000	0.42112|0.42112	1.160000|1.160000	0.42584|0.42584	0.508000|0.508000	0.49915|0.49915	GAC|GAG		0.433	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		5	17	0	0	0	1	0	5	17				
NLGN4X	57502	broad.mit.edu	37	X	5811433	5811433	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chrX:5811433G>A	ENST00000381095.3	-	6	2503	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W	NLGN4X_ENST00000381092.1_Missense_Mutation_p.R626W|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R626W|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R626W|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R646W	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	626					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGAGATCGCCGGGTGCCATAG	0.498																																						ENST00000381095.3																			0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(1876-1878)Cgg>Tgg		neuroligin 4, X-linked							123.0	110.0	115.0					X																	5811433		2202	4280	6482	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5811433G>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1876C>T	X.37:g.5811433G>A	ENSP00000370485:p.Arg626Trp					NLGN4X_ENST00000538097.1_Missense_Mutation_p.R626W|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R626W|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R646W|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R626W	p.R626W	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN			6	2503	-			626					Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.1876C>T	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	5.171	0.217085	0.09810	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	4.0	4.0	0.46444	.	0.237850	0.22028	N	0.065632	T	0.74007	0.3660	L	0.55481	1.735	0.41074	D	0.985476	B;D;B	0.71674	0.03;0.998;0.051	B;D;B	0.63793	0.008;0.918;0.019	T	0.76332	-0.2998	10	0.87932	D	0	.	10.0493	0.42205	0.0:0.0:0.7991:0.2009	.	683;626;646	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	W	626;646;626;626;626	ENSP00000370485:R626W;ENSP00000370483:R646W;ENSP00000275857:R626W;ENSP00000370482:R626W;ENSP00000439203:R626W	ENSP00000275857:R626W	R	-	1	2	NLGN4X	5821433	1.000000	0.71417	0.042000	0.18584	0.004000	0.04260	2.244000	0.43124	1.594000	0.50039	0.513000	0.50165	CGG		0.498	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		27	100	0	0	0	1	0	27	100				
EPHB1	2047	broad.mit.edu	37	3	134920369	134920369	+	Silent	SNP	C	C	A	rs185573405		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:134920369C>A	ENST00000398015.3	+	12	2554	c.2184C>A	c.(2182-2184)atC>atA	p.I728I	EPHB1_ENST00000493838.1_Silent_p.I289I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	728	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCAGGGGCATCGCTGCTGGCA	0.522																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2182-2184)atC>atA		EPH receptor B1							236.0	235.0	236.0					3																	134920369		2203	4300	6503	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134920369C>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2184C>A	3.37:g.134920369C>A						EPHB1_ENST00000493838.1_Silent_p.I289I	p.I728I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			12	2554	+			728			Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.2184C>A	CCDS46921.1																																																																																				0.522	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		28	138	1	0	2.47511e-08	1	2.71083e-08	28	138				
CUL9	23113	broad.mit.edu	37	6	43153816	43153816	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:43153816G>A	ENST00000252050.4	+	4	958	c.874G>A	c.(874-876)Gag>Aag	p.E292K	CUL9_ENST00000372647.2_Missense_Mutation_p.E292K|CUL9_ENST00000354495.3_Missense_Mutation_p.E292K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	292					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGCCACAAGAGAGAAAAGCCG	0.592																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(874-876)Gag>Aag		cullin 9							61.0	64.0	63.0					6																	43153816		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43153816G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.874G>A	6.37:g.43153816G>A	ENSP00000252050:p.Glu292Lys					CUL9_ENST00000372647.2_Missense_Mutation_p.E292K|CUL9_ENST00000354495.3_Missense_Mutation_p.E292K	p.E292K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			4	958	+			292					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.874G>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275270	0.40194	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.48522	0.81;0.81;0.81	5.26	4.37	0.52481	.	0.487068	0.22131	N	0.064197	T	0.17152	0.0412	L	0.38531	1.155	0.27106	N	0.962505	B;B;B	0.21606	0.041;0.041;0.058	B;B;B	0.15052	0.012;0.012;0.008	T	0.09250	-1.0683	10	0.32370	T	0.25	-16.2239	9.2388	0.37484	0.0764:0.1473:0.7763:0.0	.	292;292;292	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	K	292	ENSP00000252050:E292K;ENSP00000346490:E292K;ENSP00000361730:E292K	ENSP00000252050:E292K	E	+	1	0	CUL9	43261794	1.000000	0.71417	0.921000	0.36526	0.771000	0.43674	3.784000	0.55416	1.182000	0.42928	0.563000	0.77884	GAG		0.592	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		13	64	0	0	0	1	0	13	64				
LRRK2	120892	broad.mit.edu	37	12	40702421	40702421	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:40702421T>A	ENST00000298910.7	+	29	4170	c.4112T>A	c.(4111-4113)aTa>aAa	p.I1371K		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1371	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.		I -> V (in PARK8; unknown pathological significance; dbSNP:rs17466213). {ECO:0000269|PubMed:16157901, ECO:0000269|PubMed:16333314}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACAGTTGGCATAGATGTGAAA	0.373																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(4111-4113)aTa>aAa		leucine-rich repeat kinase 2							90.0	87.0	88.0					12																	40702421		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40702421T>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4112T>A	12.37:g.40702421T>A	ENSP00000298910:p.Ile1371Lys						p.I1371K	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			29	4170	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1371		I -> V (in PARK8; could be a polymorphism; dbSNP:rs17466213).	Roc.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.4112T>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.067444	0.76301	.	.	ENSG00000188906	ENST00000298910	D	0.81821	-1.54	5.39	5.39	0.77823	ROC GTPase (1);Small GTP-binding protein domain (1);Mitochondrial Rho-like (1);	0.050107	0.85682	D	0.000000	D	0.86239	0.5885	L	0.46885	1.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.86096	0.1553	10	0.44086	T	0.13	.	15.4098	0.74908	0.0:0.0:0.0:1.0	.	1371;1371	Q17RV3;Q5S007	.;LRRK2_HUMAN	K	1371	ENSP00000298910:I1371K	ENSP00000298910:I1371K	I	+	2	0	LRRK2	38988688	1.000000	0.71417	0.991000	0.47740	0.910000	0.53928	7.452000	0.80683	2.034000	0.60081	0.377000	0.23210	ATA		0.373	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		10	26	0	0	0	1	0	10	26				
PCGF6	84108	broad.mit.edu	37	10	105107010	105107010	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:105107010C>G	ENST00000369847.3	-	5	725	c.658G>C	c.(658-660)Gaa>Caa	p.E220Q	PCGF6_ENST00000337211.4_Intron|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	220					negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		TTAGGTACTTCTAGACCTCTT	0.299																																						ENST00000369847.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8						c.(658-660)Gaa>Caa		polycomb group ring finger 6							82.0	86.0	85.0					10																	105107010		2202	4298	6500	SO:0001583	missense	84108				negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:105107010C>G	AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	21156	protein-coding gene	gene with protein product		607816	"""ring finger protein 134"""	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.658G>C	10.37:g.105107010C>G	ENSP00000358862:p.Glu220Gln					PCGF6_ENST00000337211.4_Intron|PCGF6_ENST00000490296.1_5'UTR	p.E220Q	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)	5	725	-		Colorectal(252;0.0747)|Breast(234;0.128)	220					A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Missense_Mutation	SNP	ENST00000369847.3	37	c.658G>C	CCDS31275.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601626	0.46423	.	.	ENSG00000156374	ENST00000369847	T	0.34667	1.35	5.4	5.4	0.78164	.	0.170629	0.49916	D	0.000136	T	0.34250	0.0891	L	0.51853	1.615	0.80722	D	1	P	0.35272	0.493	B	0.29785	0.107	T	0.09185	-1.0686	10	0.31617	T	0.26	.	18.7703	0.91888	0.0:1.0:0.0:0.0	.	220	Q9BYE7	PCGF6_HUMAN	Q	220	ENSP00000358862:E220Q	ENSP00000358862:E220Q	E	-	1	0	PCGF6	105097000	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.552000	0.60747	2.528000	0.85240	0.462000	0.41574	GAA		0.299	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1	NM_032154		7	17	0	0	0	1	0	7	17				
RAI14	26064	broad.mit.edu	37	5	34757697	34757697	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:34757697A>G	ENST00000265109.3	+	3	448	c.161A>G	c.(160-162)aAg>aGg	p.K54R	RAI14_ENST00000397449.1_Missense_Mutation_p.K47R|RAI14_ENST00000512629.1_Missense_Mutation_p.K54R|RAI14_ENST00000506376.1_Missense_Mutation_p.K46R|RAI14_ENST00000428746.2_Missense_Mutation_p.K54R|RAI14_ENST00000515799.1_Missense_Mutation_p.K57R|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000503673.1_Missense_Mutation_p.K54R	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	54						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGTGAGGGCAAGACCGCGTAA	0.552																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(160-162)aAg>aGg		retinoic acid induced 14							62.0	59.0	60.0					5																	34757697		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34757697A>G	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.161A>G	5.37:g.34757697A>G	ENSP00000265109:p.Lys54Arg					RAI14_ENST00000397449.1_Missense_Mutation_p.K47R|RAI14_ENST00000512629.1_Missense_Mutation_p.K54R|RAI14_ENST00000506376.1_Missense_Mutation_p.K46R|RAI14_ENST00000503673.1_Missense_Mutation_p.K54R|RAI14_ENST00000515799.1_Missense_Mutation_p.K57R|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000428746.2_Missense_Mutation_p.K54R	p.K54R	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			3	448	+	all_lung(31;0.000191)		54					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.161A>G	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960144	0.53400	.	.	ENSG00000039560	ENST00000265109;ENST00000514527;ENST00000513974;ENST00000512629;ENST00000428746;ENST00000514873;ENST00000503673;ENST00000504052;ENST00000512305;ENST00000514036;ENST00000515799;ENST00000508315;ENST00000512625;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.72	5.72	0.89469	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.54175	0.1842	N	0.01874	-0.695	0.49130	D	0.999756	P;D;D;D	0.76494	0.859;0.999;0.998;0.999	P;D;D;D	0.83275	0.586;0.996;0.994;0.996	T	0.66496	-0.5909	9	0.56958	D	0.05	-26.2286	10.3665	0.44026	0.9273:0.0:0.0727:0.0	.	46;54;57;54	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	R	54;54;54;54;54;54;54;54;54;54;57;54;54;46;47	ENSP00000265109:K54R;ENSP00000424879:K54R;ENSP00000422112:K54R;ENSP00000422377:K54R;ENSP00000388725:K54R;ENSP00000421424:K54R;ENSP00000422942:K54R;ENSP00000422515:K54R;ENSP00000422114:K54R;ENSP00000424502:K54R;ENSP00000427123:K57R;ENSP00000426770:K54R;ENSP00000425115:K54R;ENSP00000423854:K46R;ENSP00000380591:K47R	ENSP00000265109:K54R	K	+	2	0	RAI14	34793454	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.680000	0.61656	2.194000	0.70268	0.528000	0.53228	AAG		0.552	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		8	45	0	0	0	1	0	8	45				
NUDCD1	84955	broad.mit.edu	37	8	110334609	110334609	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:110334609C>T	ENST00000239690.4	-	2	576	c.202G>A	c.(202-204)Gat>Aat	p.D68N	NUDCD1_ENST00000427660.2_Missense_Mutation_p.D39N	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TACCATGAATCACAGTGCAGG	0.338																																						ENST00000239690.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25						c.(202-204)Gat>Aat		NudC domain containing 1							112.0	103.0	106.0					8																	110334609		2202	4300	6502	SO:0001583	missense	84955							g.chr8:110334609C>T	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.202G>A	8.37:g.110334609C>T	ENSP00000239690:p.Asp68Asn					NUDCD1_ENST00000427660.2_Missense_Mutation_p.D39N	p.D68N	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		2	576	-	all_neural(195;0.219)		68						Missense_Mutation	SNP	ENST00000239690.4	37	c.202G>A	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495642	0.64186	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.35236	1.44;1.32	5.34	5.34	0.76211	.	0.051970	0.85682	D	0.000000	T	0.33089	0.0851	L	0.41961	1.31	0.52099	D	0.999949	P;P	0.42456	0.673;0.78	B;B	0.41764	0.201;0.366	T	0.07177	-1.0786	10	0.45353	T	0.12	-15.7204	11.4921	0.50387	0.0:0.9181:0.0:0.0819	.	68;39	Q96RS6;Q96RS6-2	NUDC1_HUMAN;.	N	68;39	ENSP00000239690:D68N;ENSP00000410707:D39N	ENSP00000239690:D68N	D	-	1	0	NUDCD1	110403785	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.388000	0.66249	2.487000	0.83934	0.655000	0.94253	GAT		0.338	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869		7	15	0	0	0	1	0	7	15				
XAB2	56949	broad.mit.edu	37	19	7690804	7690804	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:7690804G>A	ENST00000358368.4	-	6	821	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	XAB2_ENST00000534844.1_Missense_Mutation_p.L259F	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	262					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TAGTCGGCGAGAGAACACCAG	0.642								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(784-786)Ctc>Ttc	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							63.0	60.0	61.0					19																	7690804		2203	4300	6503	SO:0001583	missense	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7690804G>A	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.784C>T	19.37:g.7690804G>A	ENSP00000351137:p.Leu262Phe					XAB2_ENST00000534844.1_Missense_Mutation_p.L259F	p.L262F	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			6	821	-			262					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	c.784C>T	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159684	0.38119	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	D;D	0.92495	-3.05;-3.05	4.61	1.14	0.20703	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.100808	0.41823	D	0.000801	D	0.95943	0.8679	M	0.93106	3.38	0.39990	D	0.975033	D	0.89917	1.0	D	0.79108	0.992	D	0.94841	0.8005	10	0.87932	D	0	-18.597	8.3913	0.32531	0.2674:0.0:0.7326:0.0	.	262	Q9HCS7	SYF1_HUMAN	F	262;259	ENSP00000351137:L262F;ENSP00000438225:L259F	ENSP00000351137:L262F	L	-	1	0	XAB2	7596804	1.000000	0.71417	0.597000	0.28824	0.190000	0.23558	3.660000	0.54496	0.544000	0.28883	-0.300000	0.09419	CTC		0.642	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		6	47	0	0	0	1	0	6	47				
PRLR	5618	broad.mit.edu	37	5	35065601	35065601	+	Missense_Mutation	SNP	C	C	T	rs139147779		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:35065601C>T	ENST00000382002.5	-	10	1885	c.1459G>A	c.(1459-1461)Gac>Aac	p.D487N	PRLR_ENST00000513753.1_Intron|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.D386N|PRLR_ENST00000342362.5_Missense_Mutation_p.D386N	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	487					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	GTATCCTGGTCAGTCTCAGAA	0.493																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1459-1461)Gac>Aac		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	C	ASN/ASP,ASN/ASP,,,,	1,4405	2.1+/-5.4	0,1,2202	94.0	103.0	100.0		1459,1156,,,,	5.2	0.6	5	dbSNP_134	100	0,8600		0,0,4300	no	missense,missense,intron,intron,intron,intron	PRLR	NM_000949.5,NM_001204314.1,NM_001204315.1,NM_001204316.1,NM_001204317.1,NM_001204318.1	23,23,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,,,,	487/623,386/522,,,,	35065601	1,13005	2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065601C>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1459G>A	5.37:g.35065601C>T	ENSP00000371432:p.Asp487Asn					PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.D386N|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.D386N	p.D487N	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	1885	-	all_lung(31;3.83e-05)		487					B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.1459G>A	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444424	0.25987	2.27E-4	0.0	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	D;D;D	0.89939	-2.59;-1.67;-2.59	5.2	5.2	0.72013	.	0.538081	0.21471	N	0.073990	D	0.87799	0.6268	L	0.54908	1.71	0.37852	D	0.929409	B;B	0.19331	0.005;0.035	B;B	0.18561	0.008;0.022	D	0.85978	0.1481	10	0.59425	D	0.04	-1.9102	18.743	0.91780	0.0:1.0:0.0:0.0	.	487;386	P16471;P16471-2	PRLR_HUMAN;.	N	386;487;386	ENSP00000339213:D386N;ENSP00000371432:D487N;ENSP00000422556:D386N	ENSP00000339213:D386N	D	-	1	0	PRLR	35101358	0.938000	0.31826	0.644000	0.29465	0.022000	0.10575	1.737000	0.38197	2.437000	0.82529	0.655000	0.94253	GAC		0.493	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			17	68	0	0	0	1	0	17	68				
RPGRIP1	57096	broad.mit.edu	37	14	21792998	21792998	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:21792998G>C	ENST00000400017.2	+	14	1984	c.1984G>C	c.(1984-1986)Gaa>Caa	p.E662Q	RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.E662Q|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E624Q|RPGRIP1_ENST00000307974.4_Intron	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	662					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTATGACTTTGAAACCCACTG	0.507																																						ENST00000206660.6																			0				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39						c.(1984-1986)Gaa>Caa		retinitis pigmentosa GTPase regulator interacting protein 1							149.0	141.0	144.0					14																	21792998		1942	4145	6087	SO:0001583	missense	57096				response to stimulus|visual perception	cilium		g.chr14:21792998G>C	AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1984G>C	14.37:g.21792998G>C	ENSP00000382895:p.Glu662Gln					RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000307974.4_Intron|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E662Q|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E624Q	p.E662Q			Q96KN7	RPGR1_HUMAN	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)	14	1984	+	all_cancers(95;0.0017)	all_cancers(140;0.0973)	662					Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	ENST00000400017.2	37	c.1984G>C	CCDS45080.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125699	0.77436	.	.	ENSG00000092200	ENST00000557771;ENST00000400017;ENST00000206660;ENST00000555587;ENST00000554303	D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.998;0.999	D	0.96776	0.9572	10	0.72032	D	0.01	-22.8818	18.396	0.90499	0.0:0.0:1.0:0.0	.	45;137;278;662	Q96KN7-2;G3V3I7;Q96KN7-5;Q96KN7	.;.;.;RPGR1_HUMAN	Q	624;662;662;137;124	ENSP00000451219:E624Q;ENSP00000382895:E662Q;ENSP00000206660:E662Q;ENSP00000451262:E137Q;ENSP00000450426:E124Q	ENSP00000206660:E662Q	E	+	1	0	RPGRIP1	20862838	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	6.761000	0.74945	2.882000	0.98803	0.655000	0.94253	GAA		0.507	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410258.1	NM_020366		20	83	0	0	0	1	0	20	83				
TBC1D3P5	440419	broad.mit.edu	37	17	25752587	25752587	+	RNA	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:25752587G>A	ENST00000586223.1	+	0	1422					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		AAGACCATGTGTCATCTGGTG	0.602																																						ENST00000586223.1																			0																																																			440419							g.chr17:25752587G>A			17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25752587G>A								NR_033892.1						0	1422	+									RNA	SNP	ENST00000586223.1	37																																																																																						0.602	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	pseudogene	OTTHUMT00000451073.1	NR_033892		18	63	0	0	0	1	0	18	63				
ARFGEF1	10565	broad.mit.edu	37	8	68163661	68163661	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:68163661C>G	ENST00000262215.3	-	19	3112	c.2723G>C	c.(2722-2724)aGa>aCa	p.R908T	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R362T	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	908					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)			ATACAGAAGTCTTCTTTGTTT	0.348																																						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.(2722-2724)aGa>aCa		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							106.0	94.0	98.0					8																	68163661		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68163661C>G	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.2723G>C	8.37:g.68163661C>G	ENSP00000262215:p.Arg908Thr					ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R362T	p.R908T	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)		19	3112	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	908					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.2723G>C	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898791	0.91962	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.55760	0.5;0.5	5.75	5.75	0.90469	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75722	0.3888	M	0.83012	2.62	0.80722	D	1	D;P	0.71674	0.998;0.945	D;P	0.67900	0.954;0.652	T	0.78234	-0.2283	10	0.72032	D	0.01	.	19.9438	0.97175	0.0:1.0:0.0:0.0	.	908;362	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	T	362;908	ENSP00000428429:R362T;ENSP00000262215:R908T	ENSP00000262215:R908T	R	-	2	0	ARFGEF1	68326215	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.815000	0.86186	2.717000	0.92951	0.557000	0.71058	AGA		0.348	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		6	39	0	0	0	1	0	6	39				
DNAH2	146754	broad.mit.edu	37	17	7699957	7699957	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:7699957G>C	ENST00000572933.1	+	50	9310	c.7850G>C	c.(7849-7851)cGa>cCa	p.R2617P	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2617P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2617	AAA 3. {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)				TTCAACCTTCGAGACATCTCC	0.562																																						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.(7849-7851)cGa>cCa		dynein, axonemal, heavy chain 2							146.0	120.0	129.0					17																	7699957		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7699957G>C	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.7850G>C	17.37:g.7699957G>C	ENSP00000458355:p.Arg2617Pro					DNAH2_ENST00000389173.2_Missense_Mutation_p.R2617P	p.R2617P			Q9P225	DYH2_HUMAN			50	9310	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2617			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7850G>C	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842344	0.91197	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.67865	-0.29	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.90553	0.7039	H	0.99642	4.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94539	0.7743	10	0.87932	D	0	.	17.8198	0.88647	0.0:0.0:1.0:0.0	.	2617	Q9P225	DYH2_HUMAN	P	2617	ENSP00000373825:R2617P	ENSP00000353818:R2617P	R	+	2	0	DNAH2	7640682	1.000000	0.71417	0.585000	0.28666	0.982000	0.71751	9.003000	0.93577	2.737000	0.93849	0.514000	0.50259	CGA		0.562	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		7	60	0	0	0	1	0	7	60				
POU4F2	5458	broad.mit.edu	37	4	147561481	147561481	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:147561481G>A	ENST00000281321.3	+	2	999	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	251	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	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 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)	p.V251M(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CATGAGCGACGTGGACGCCGA	0.692																																						ENST00000281321.3																			1	Substitution - Missense(1)	p.V251M(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(751-753)Gtg>Atg		POU class 4 homeobox 2							17.0	19.0	18.0					4																	147561481		2197	4298	6495	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561481G>A	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.751G>A	4.37:g.147561481G>A	ENSP00000281321:p.Val251Met						p.V251M	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			2	999	+	all_hematologic(180;0.151)		251			POU-specific.		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.751G>A	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606609	0.46527	.	.	ENSG00000151615	ENST00000281321	T	0.69175	-0.38	5.42	5.42	0.78866	POU-specific (2);	0.273464	0.36932	N	0.002331	T	0.50582	0.1624	N	0.08118	0	0.80722	D	1	P	0.47350	0.894	B	0.41917	0.37	T	0.55108	-0.8192	10	0.33141	T	0.24	.	18.841	0.92184	0.0:0.0:1.0:0.0	.	251	Q12837	PO4F2_HUMAN	M	251	ENSP00000281321:V251M	ENSP00000281321:V251M	V	+	1	0	POU4F2	147780931	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.635000	0.67841	2.561000	0.86390	0.462000	0.41574	GTG		0.692	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		5	28	0	0	0	1	0	5	28				
SPATA31D5P	347127	broad.mit.edu	37	9	84532604	84532604	+	RNA	SNP	G	G	A	rs180781393	byFrequency	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:84532604G>A	ENST00000527857.1	+	0	2626					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		AGCAGACAATGTCTCTTCCTG	0.448													-|||	41	0.0081869	0.0287	0.0043	5008	,	,		19819	0.0		0.0	False		,,,				2504	0.0					ENST00000527857.1																			0																																																			347127							g.chr9:84532604G>A			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84532604G>A								NR_026851.1						0	2626	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.448	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		5	24	0	0	0	1	0	5	24				
GPR125	166647	broad.mit.edu	37	4	22389832	22389832	+	Missense_Mutation	SNP	G	G	T	rs574152051		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:22389832G>T	ENST00000334304.5	-	19	3731	c.3462C>A	c.(3460-3462)caC>caA	p.H1154Q	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1154					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AAGGCGCCACGTGCATTTTAA	0.458																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(3460-3462)caC>caA		G protein-coupled receptor 125							75.0	75.0	75.0					4																	22389832		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22389832G>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3462C>A	4.37:g.22389832G>T	ENSP00000334952:p.His1154Gln					GPR125_ENST00000282943.5_5'UTR	p.H1154Q	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3731	-		Breast(46;0.198)	1154					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.3462C>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129279	0.56721	.	.	ENSG00000152990	ENST00000334304	T	0.56776	0.44	5.64	-4.5	0.03493	.	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.992;0.999	P;D	0.67548	0.854;0.952	T	0.67106	-0.5754	10	0.45353	T	0.12	-1.1176	15.5272	0.75919	0.6004:0.0:0.3996:0.0	.	1011;1154	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	Q	1154	ENSP00000334952:H1154Q	ENSP00000334952:H1154Q	H	-	3	2	GPR125	21998930	0.027000	0.19231	0.907000	0.35723	0.911000	0.54048	-0.794000	0.04584	-0.962000	0.03604	-0.142000	0.14014	CAC		0.458	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			13	50	1	0	2.27111e-07	1	2.45237e-07	13	50				
ABTB1	80325	broad.mit.edu	37	3	127396349	127396349	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:127396349C>G	ENST00000232744.8	+	9	890	c.804C>G	c.(802-804)ttC>ttG	p.F268L	ABTB1_ENST00000453791.2_Missense_Mutation_p.F126L|ABTB1_ENST00000468137.1_Missense_Mutation_p.F126L|ABTB1_ENST00000393363.3_Missense_Mutation_p.F126L					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CTGACGGCTTCAACAGCTGCC	0.607																																						ENST00000468137.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(376-378)ttC>ttG		ankyrin repeat and BTB (POZ) domain containing 1							115.0	116.0	116.0					3																	127396349		2203	4300	6503	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127396349C>G	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.804C>G	3.37:g.127396349C>G	ENSP00000232744:p.Phe268Leu					ABTB1_ENST00000453791.2_Missense_Mutation_p.F126L|ABTB1_ENST00000393363.3_Missense_Mutation_p.F126L|ABTB1_ENST00000232744.8_Missense_Mutation_p.F268L	p.F126L			Q969K4	ABTB1_HUMAN			8	994	+			268			BTB 1.			Missense_Mutation	SNP	ENST00000232744.8	37	c.378C>G	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	C	8.823	0.938137	0.18206	.	.	ENSG00000114626	ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.59638	0.25;0.49;0.25;0.25	5.17	4.29	0.51040	.	0.046947	0.85682	N	0.000000	T	0.39545	0.1082	N	0.17631	0.505	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.17319	-1.0373	10	0.10377	T	0.69	-24.3763	13.7431	0.62860	0.0:0.9233:0.0:0.0767	.	268;243	Q969K4;Q969K4-3	ABTB1_HUMAN;.	L	126;268;126;126	ENSP00000377030:F126L;ENSP00000232744:F268L;ENSP00000412684:F126L;ENSP00000417366:F126L	ENSP00000232744:F268L	F	+	3	2	ABTB1	128879039	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	0.987000	0.29603	1.147000	0.42369	0.591000	0.81541	TTC		0.607	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		20	89	0	0	0	1	0	20	89				
GRIN2D	2906	broad.mit.edu	37	19	48925189	48925189	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:48925189C>G	ENST00000263269.3	+	10	2327	c.2239C>G	c.(2239-2241)Cag>Gag	p.Q747E		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	747					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGCGCTCACTCAGCTCAAGGC	0.627																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(2239-2241)Cag>Gag		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						60.0	57.0	58.0					19																	48925189		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48925189C>G	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2239C>G	19.37:g.48925189C>G	ENSP00000263269:p.Gln747Glu						p.Q747E	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	10	2327	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	747						Missense_Mutation	SNP	ENST00000263269.3	37	c.2239C>G	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612280	0.46631	.	.	ENSG00000105464	ENST00000263269	T	0.26067	1.76	4.47	4.47	0.54385	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.195387	0.42821	D	0.000660	T	0.12475	0.0303	N	0.11560	0.145	0.24774	N	0.992858	P	0.38729	0.644	B	0.32928	0.155	T	0.15896	-1.0421	10	0.72032	D	0.01	.	10.1894	0.43017	0.31:0.69:0.0:0.0	.	747	O15399	NMDE4_HUMAN	E	747	ENSP00000263269:Q747E	ENSP00000263269:Q747E	Q	+	1	0	GRIN2D	53617001	0.742000	0.28228	0.963000	0.40424	0.997000	0.91878	1.625000	0.37029	2.481000	0.83766	0.655000	0.94253	CAG		0.627	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			17	66	0	0	0	1	0	17	66				
ITGA10	8515	broad.mit.edu	37	1	145533128	145533128	+	Missense_Mutation	SNP	G	G	A	rs587701227		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:145533128G>A	ENST00000369304.3	+	11	1398	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	ITGA10_ENST00000539363.1_Missense_Mutation_p.R265H|ITGA10_ENST00000538811.1_Missense_Mutation_p.R277H	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	408					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.R408H(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGGCCACCGCCTTTTCCCC	0.577													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14990	0.0		0.0	False		,,,				2504	0.0					ENST00000369304.3																			1	Substitution - Missense(1)	p.R408H(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1222-1224)cGc>cAc		integrin, alpha 10							62.0	58.0	59.0					1																	145533128		2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145533128G>A	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1223G>A	1.37:g.145533128G>A	ENSP00000358310:p.Arg408His					ITGA10_ENST00000539363.1_Missense_Mutation_p.R265H|ITGA10_ENST00000538811.1_Missense_Mutation_p.R277H	p.R408H	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			11	1398	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		408					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.1223G>A	CCDS918.1	.	.	.	.	.	.	.	.	.	.	G	8.976	0.974056	0.18736	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.25085	1.82;1.82;1.82	4.71	-2.28	0.06826	.	0.719495	0.13270	N	0.400596	T	0.05318	0.0141	L	0.46741	1.465	0.29451	N	0.858498	B;B;B;B	0.21753	0.06;0.016;0.059;0.006	B;B;B;B	0.20767	0.031;0.013;0.009;0.008	T	0.44862	-0.9300	10	0.08837	T	0.75	.	7.5075	0.27553	0.3853:0.11:0.5047:0.0	.	374;277;265;408	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	H	408;374;265;277	ENSP00000358310:R408H;ENSP00000439894:R265H;ENSP00000440011:R277H	ENSP00000358310:R408H	R	+	2	0	ITGA10	144244485	0.001000	0.12720	0.557000	0.28306	0.563000	0.35712	0.248000	0.18198	-0.810000	0.04375	-0.797000	0.03246	CGC		0.577	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		7	37	0	0	0	1	0	7	37				
HSF4	3299	broad.mit.edu	37	16	67202771	67202771	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:67202771G>C	ENST00000521374.1	+	10	1120	c.1120G>C	c.(1120-1122)Gag>Cag	p.E374Q	NOL3_ENST00000564053.1_5'Flank|NOL3_ENST00000432069.2_5'Flank|HSF4_ENST00000421453.1_Missense_Mutation_p.E344Q|HSF4_ENST00000584272.1_Missense_Mutation_p.E344Q|HSF4_ENST00000264009.8_Missense_Mutation_p.E374Q			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	374	Hydrophobic repeat HR-C.				camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGGAGCCCAGAGAGTCTGCT	0.597																																						ENST00000264009.8																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12						c.(1120-1122)Gag>Cag		heat shock transcription factor 4							61.0	69.0	66.0					16																	67202771		1973	4149	6122	SO:0001583	missense	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67202771G>C	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.1120G>C	16.37:g.67202771G>C	ENSP00000430947:p.Glu374Gln					HSF4_ENST00000584272.1_Missense_Mutation_p.E344Q|HSF4_ENST00000521374.1_Missense_Mutation_p.E374Q|HSF4_ENST00000421453.1_Missense_Mutation_p.E344Q	p.E374Q	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	12	2085	+		Ovarian(137;0.0563)	374			Hydrophobic repeat HR-C.		Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	c.1120G>C	CCDS42175.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	10.07|10.07|10.07	1.250094|1.250094|1.250094	0.22880|0.22880|0.22880	.|.|.	.|.|.	ENSG00000102878|ENSG00000102878|ENSG00000102878	ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374|ENST00000520304|ENST00000517750;ENST00000519601	.|.|.	.|.|.	.|.|.	4.17|4.17|4.17	3.22|3.22|3.22	0.36961|0.36961|0.36961	.|.|.	0.582849|.|.	0.16624|.|.	N|.|.	0.206341|.|.	T|T|T	0.45975|0.45975|0.45975	0.1369|0.1369|0.1369	L|L|L	0.32530|0.32530|0.32530	0.975|0.975|0.975	0.34210|0.34210|0.34210	D|D|D	0.674133|0.674133|0.674133	B;B|.|.	0.12630|.|.	0.003;0.006|.|.	B;B|.|.	0.18263|.|.	0.021;0.004|.|.	T|T|T	0.55179|0.55179|0.55179	-0.8181|-0.8181|-0.8181	9|5|5	0.42905|.|.	T|.|.	0.14|.|.	-8.2143|-8.2143|-8.2143	10.2008|10.2008|10.2008	0.43082|0.43082|0.43082	0.0:0.2023:0.7977:0.0|0.0:0.2023:0.7977:0.0|0.0:0.2023:0.7977:0.0	.|.|.	344;374|.|.	Q9ULV5-2;Q9ULV5|.|.	.;HSF4_HUMAN|.|.	Q|H|T	344;374;298;374|49|158;105	.|.|.	ENSP00000264009:E374Q|.|.	E|Q|R	+|+|+	1|3|2	0|2|0	HSF4|HSF4|HSF4	65760272|65760272|65760272	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.090000|0.090000|0.090000	0.18270|0.18270|0.18270	3.173000|3.173000|3.173000	0.50839|0.50839|0.50839	1.106000|1.106000|1.106000	0.41623|0.41623|0.41623	-0.225000|-0.225000|-0.225000	0.12378|0.12378|0.12378	GAG|CAG|AGA		0.597	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		9	56	0	0	0	1	0	9	56				
ACOT2	10965	broad.mit.edu	37	14	74036233	74036233	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:74036233C>T	ENST00000238651.5	+	1	471	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	97					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GGTCACGCTGCGCGCGTCCCT	0.751																																						ENST00000238651.5																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(289-291)Cgc>Tgc		acyl-CoA thioesterase 2							12.0	12.0	12.0					14																	74036233		2154	4134	6288	SO:0001583	missense	10965				acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	g.chr14:74036233C>T	AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.289C>T	14.37:g.74036233C>T	ENSP00000238651:p.Arg97Cys					ACOT2_ENST00000538782.1_Intron	p.R97C	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)	1	471	+			97					Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	ENST00000238651.5	37	c.289C>T	CCDS9816.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104817	0.56291	.	.	ENSG00000119673	ENST00000238651	T	0.72167	-0.63	3.81	3.81	0.43845	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.130305	0.49305	D	0.000142	T	0.76723	0.4027	M	0.75884	2.315	0.54753	D	0.999981	D	0.63046	0.992	P	0.55749	0.783	T	0.78740	-0.2086	10	0.66056	D	0.02	-17.0704	8.3371	0.32221	0.1747:0.6558:0.1695:0.0	.	97	P49753	ACOT2_HUMAN	C	97	ENSP00000238651:R97C	ENSP00000238651:R97C	R	+	1	0	ACOT2	73105986	0.999000	0.42202	1.000000	0.80357	0.334000	0.28698	2.105000	0.41825	1.827000	0.53221	0.467000	0.42956	CGC		0.751	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1	NM_006821		14	31	0	0	0	1	0	14	31				
EMC8	10328	broad.mit.edu	37	16	85813429	85813429	+	Missense_Mutation	SNP	G	G	A	rs376195354		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:85813429G>A	ENST00000253457.3	-	5	762	c.518C>T	c.(517-519)tCg>tTg	p.S173L	RNU1-103P_ENST00000516502.1_RNA|EMC8_ENST00000435200.2_3'UTR	NM_006067.4	NP_006058.1	O43402	EMC8_HUMAN	ER membrane protein complex subunit 8	173						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GTCCAGGAGCGAGGCTGAGAT	0.512																																						ENST00000253457.3																			0											c.(517-519)tCg>tTg		ER membrane protein complex subunit 8		G	,LEU/SER	0,4396		0,0,2198	86.0	77.0	80.0		,518	5.2	0.1	16		80	2,8598	2.2+/-6.3	0,2,4298	no	utr-3,missense	COX4NB	NM_001142288.1,NM_006067.4	,145	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	,possibly-damaging	,173/211	85813429	2,12994	2198	4300	6498	SO:0001583	missense	10328							g.chr16:85813429G>A	AF005888	CCDS10954.1, CCDS45541.1	16q24	2012-05-30	2012-05-30	2012-05-30	ENSG00000131148	ENSG00000131148			7864	protein-coding gene	gene with protein product	"""family with sequence similarity 158, member B"""	604886	"""chromosome 16 open reading frame 4"", ""neighbor of COX4"", ""chromosome 16 open reading frame 2"", ""COX4 neighbor"""	C16orf4, NOC4, C16orf2, COX4NB		10337626, 22119785	Standard	NM_006067		Approved	FAM158B	uc002fjd.3	O43402	OTTHUMG00000137647	ENST00000253457.3:c.518C>T	16.37:g.85813429G>A	ENSP00000253457:p.Ser173Leu					EMC8_ENST00000435200.2_3'UTR	p.S173L	NM_006067.4	NP_006058.1					5	762	-								C9JB21	Missense_Mutation	SNP	ENST00000253457.3	37	c.518C>T	CCDS10954.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044995	0.75846	0.0	2.33E-4	ENSG00000131148	ENST00000253457	T	0.44881	0.91	5.22	5.22	0.72569	.	0.056039	0.64402	D	0.000001	T	0.32102	0.0818	N	0.26042	0.785	0.80722	D	1	D	0.53151	0.958	B	0.38655	0.278	T	0.13791	-1.0496	10	0.41790	T	0.15	-15.5709	18.8005	0.92015	0.0:0.0:1.0:0.0	.	173	O43402	CX4NB_HUMAN	L	173	ENSP00000253457:S173L	ENSP00000253457:S173L	S	-	2	0	COX4NB	84370930	1.000000	0.71417	0.050000	0.19076	0.750000	0.42670	9.338000	0.96553	2.435000	0.82474	0.561000	0.74099	TCG		0.512	EMC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269099.1	NM_006067		5	31	0	0	0	1	0	5	31				
ADO	84890	broad.mit.edu	37	10	64564963	64564963	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:64564963C>T	ENST00000373783.1	+	1	448	c.144C>T	c.(142-144)ccC>ccT	p.P48P	RP11-436D10.3_ENST00000425290.1_RNA	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN	2-aminoethanethiol (cysteamine) dioxygenase	48						mitochondrion (GO:0005739)	cysteamine dioxygenase activity (GO:0047800)|metal ion binding (GO:0046872)			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					CGGGCTTCCCCGAGAACCTGA	0.726																																						ENST00000373783.1																			0				lung(2)	2						c.(142-144)ccC>ccT		2-aminoethanethiol (cysteamine) dioxygenase							14.0	17.0	16.0					10																	64564963		2192	4282	6474	SO:0001819	synonymous_variant	84890						cysteamine dioxygenase activity|metal ion binding	g.chr10:64564963C>T	BC028589	CCDS7266.2	10q21.3	2007-08-28	2007-08-28	2007-08-28	ENSG00000181915	ENSG00000181915	1.13.11.19		23506	protein-coding gene	gene with protein product	"""cysteamine dioxygenase"""	611392	"""chromosome 10 open reading frame 22"""	C10orf22		17581819	Standard	NM_032804		Approved	FLJ14547	uc001jmg.3	Q96SZ5	OTTHUMG00000018306	ENST00000373783.1:c.144C>T	10.37:g.64564963C>T						RP11-436D10.3_ENST00000425290.1_RNA	p.P48P	NM_032804.5	NP_116193.2	Q96SZ5	AEDO_HUMAN			1	448	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		48					B1AL29	Silent	SNP	ENST00000373783.1	37	c.144C>T	CCDS7266.2																																																																																				0.726	ADO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048243.2	NM_032804		8	18	0	0	0	1	0	8	18				
SLX4IP	128710	broad.mit.edu	37	20	10603741	10603741	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr20:10603741G>C	ENST00000334534.5	+	8	1121	c.941G>C	c.(940-942)gGa>gCa	p.G314A		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	314																	GTTTCTCTTGGAAGTGATCGA	0.473																																						ENST00000334534.5																			0											c.(940-942)gGa>gCa		SLX4 interacting protein							87.0	98.0	94.0					20																	10603741		2203	4300	6503	SO:0001583	missense	128710							g.chr20:10603741G>C	AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.941G>C	20.37:g.10603741G>C	ENSP00000335557:p.Gly314Ala						p.G314A	NM_001009608.1	NP_001009608.1					8	1121	+								Q05CG2|Q05CT9	Missense_Mutation	SNP	ENST00000334534.5	37	c.941G>C	CCDS33439.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217083	0.39201	.	.	ENSG00000149346	ENST00000334534	T	0.47869	0.83	5.96	5.96	0.96718	.	0.361795	0.27147	N	0.020711	T	0.43500	0.1250	L	0.54323	1.7	0.36027	D	0.839159	P	0.49559	0.925	P	0.47162	0.54	T	0.46679	-0.9174	10	0.13470	T	0.59	-8.5671	7.0286	0.24954	0.1076:0.1729:0.7195:0.0	.	314	Q5VYV7	CT094_HUMAN	A	314	ENSP00000335557:G314A	ENSP00000335557:G314A	G	+	2	0	C20orf94	10551741	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.908000	0.39907	2.831000	0.97527	0.650000	0.86243	GGA		0.473	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3	NM_001009608		8	63	0	0	0	1	0	8	63				
TAPT1	202018	broad.mit.edu	37	4	16168327	16168327	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:16168327G>A	ENST00000405303.2	-	13	1486	c.1403C>T	c.(1402-1404)tCg>tTg	p.S468L	TAPT1_ENST00000304584.8_3'UTR|TAPT1_ENST00000399920.3_Missense_Mutation_p.S357L	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	468					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						GGGAGGATTCGACAGCTTCTC	0.463																																						ENST00000405303.2																			0				NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						c.(1402-1404)tCg>tTg		transmembrane anterior posterior transformation 1							185.0	199.0	195.0					4																	16168327		2034	4190	6224	SO:0001583	missense	202018					integral to membrane	growth hormone-releasing hormone receptor activity	g.chr4:16168327G>A	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.1403C>T	4.37:g.16168327G>A	ENSP00000385347:p.Ser468Leu					TAPT1_ENST00000399920.3_Missense_Mutation_p.S357L|TAPT1_ENST00000304584.8_3'UTR	p.S468L	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN			13	1486	-			468					Q8N2S3|Q9NZK9	Missense_Mutation	SNP	ENST00000405303.2	37	c.1403C>T	CCDS47030.1	.	.	.	.	.	.	.	.	.	.	G	9.366	1.069296	0.20147	.	.	ENSG00000169762	ENST00000405303;ENST00000542770;ENST00000399920	T;T	0.29655	1.56;1.56	4.99	2.63	0.31362	.	0.044611	0.85682	D	0.000000	T	0.13927	0.0337	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.08371	-1.0725	10	0.28530	T	0.3	-12.7998	7.8885	0.29665	0.8208:0.0:0.1792:0.0	.	468	Q6NXT6	TAPT1_HUMAN	L	468;468;357	ENSP00000385347:S468L;ENSP00000382803:S357L	ENSP00000382803:S357L	S	-	2	0	TAPT1	15777425	0.998000	0.40836	0.401000	0.26359	0.572000	0.35998	3.461000	0.53035	0.367000	0.24454	0.650000	0.86243	TCG		0.463	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359568.1	NM_153365		7	43	0	0	0	1	0	7	43				
TC2N	123036	broad.mit.edu	37	14	92265368	92265368	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:92265368G>C	ENST00000435962.2	-	6	925	c.602C>G	c.(601-603)tCa>tGa	p.S201*	TC2N_ENST00000340892.5_Nonsense_Mutation_p.S201*|TC2N_ENST00000360594.5_Nonsense_Mutation_p.S201*|TC2N_ENST00000556018.1_Nonsense_Mutation_p.S201*	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	201					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		ATTTTTCCTTGAAGAAGAACT	0.323																																						ENST00000435962.2																			0				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18						c.(601-603)tCa>tGa		tandem C2 domains, nuclear							51.0	54.0	53.0					14																	92265368		2203	4296	6499	SO:0001587	stop_gained	123036					nucleus		g.chr14:92265368G>C	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.602C>G	14.37:g.92265368G>C	ENSP00000387882:p.Ser201*					TC2N_ENST00000556018.1_Nonsense_Mutation_p.S201*|TC2N_ENST00000360594.5_Nonsense_Mutation_p.S201*|TC2N_ENST00000340892.5_Nonsense_Mutation_p.S201*	p.S201*	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	6	925	-			201						Nonsense_Mutation	SNP	ENST00000435962.2	37	c.602C>G	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	G	36	5.834517	0.97003	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018	.	.	.	5.13	5.13	0.70059	.	0.130964	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-11.7402	18.6125	0.91291	0.0:0.0:1.0:0.0	.	.	.	.	X	201	.	ENSP00000343199:S201X	S	-	2	0	TC2N	91335121	1.000000	0.71417	0.998000	0.56505	0.102000	0.19082	7.092000	0.76930	2.375000	0.81037	0.467000	0.42956	TCA		0.323	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332		7	18	0	0	0	1	0	7	18				
ANKRD30A	91074	broad.mit.edu	37	10	37430689	37430689	+	Silent	SNP	G	G	A	rs369194109		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:37430689G>A	ENST00000602533.1	+	7	795	c.696G>A	c.(694-696)gcG>gcA	p.A232A	ANKRD30A_ENST00000374660.1_Silent_p.A232A|ANKRD30A_ENST00000361713.1_Silent_p.A232A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	288					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A232A(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CACCCTTGGCGGAAAGAACAC	0.483																																						ENST00000374660.1																			1	Substitution - coding silent(1)	p.A232A(1)	lung(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(694-696)gcG>gcA		ankyrin repeat domain 30A							34.0	36.0	36.0					10																	37430689		1880	4103	5983	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430689G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.696G>A	10.37:g.37430689G>A						ANKRD30A_ENST00000602533.1_Silent_p.A232A|ANKRD30A_ENST00000361713.1_Silent_p.A232A	p.A232A			Q9BXX3	AN30A_HUMAN			7	795	+			288					Q5W025	Silent	SNP	ENST00000602533.1	37	c.696G>A																																																																																					0.483	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		3	13	0	0	0	1	0	3	13				
ZCCHC11	23318	broad.mit.edu	37	1	52901123	52901123	+	Missense_Mutation	SNP	G	G	A	rs143272455		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:52901123G>A	ENST00000371544.3	-	27	4436	c.4174C>T	c.(4174-4176)Cgc>Tgc	p.R1392C	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1393C	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1392					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ACAAGGTTGCGGACCAGCTGG	0.433																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(4174-4176)Cgc>Tgc		zinc finger, CCHC domain containing 11		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	91.0	79.0	83.0		4177,4174	5.1	1.0	1	dbSNP_134	83	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	ZCCHC11	NM_001009881.2,NM_015269.2	180,180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging	1393/1646,1392/1645	52901123	4,13002	2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52901123G>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4174C>T	1.37:g.52901123G>A	ENSP00000360599:p.Arg1392Cys					ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1393C	p.R1392C	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			27	4436	-			1392					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.4174C>T	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.564289|4.564289	0.86335|0.86335	0.0|0.0	4.65E-4|4.65E-4	ENSG00000134744|ENSG00000134744	ENST00000474453|ENST00000257177;ENST00000371544;ENST00000531722	.|T;T	.|0.56444	.|0.57;0.46	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	.|0.241734	.|0.35207	.|N	.|0.003364	T|T	0.59542|0.59542	0.2201|0.2201	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.71414	.|0.973	T|T	0.63444|0.63444	-0.6636|-0.6636	5|10	.|0.56958	.|D	.|0.05	.|.	16.3003|16.3003	0.82806|0.82806	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1392	.|Q5TAX3	.|TUT4_HUMAN	L|C	237|1393;1392;230	.|ENSP00000257177:R1393C;ENSP00000360599:R1392C	.|ENSP00000257177:R1393C	P|R	-|-	2|1	0|0	ZCCHC11|ZCCHC11	52673711|52673711	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.996000|0.996000	0.88848|0.88848	5.690000|5.690000	0.68241|0.68241	2.390000|2.390000	0.81377|0.81377	0.467000|0.467000	0.42956|0.42956	CCG|CGC		0.433	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		5	24	0	0	0	1	0	5	24				
MNDA	4332	broad.mit.edu	37	1	158817652	158817652	+	Silent	SNP	G	G	A	rs560794903		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:158817652G>A	ENST00000368141.4	+	6	1383	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	374	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GCCTTCAACTGAGAACAGTTG	0.438													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21288	0.0		0.0	False		,,,				2504	0.0					ENST00000368141.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1120-1122)ctG>ctA		myeloid cell nuclear differentiation antigen							134.0	128.0	130.0					1																	158817652		2203	4300	6503	SO:0001819	synonymous_variant	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158817652G>A	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.1122G>A	1.37:g.158817652G>A							p.L374L	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN			6	1383	+	all_hematologic(112;0.0378)		374			HIN-200.			Silent	SNP	ENST00000368141.4	37	c.1122G>A	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	G	5.218	0.225655	0.09916	.	.	ENSG00000163563	ENST00000438394	.	.	.	3.76	1.52	0.23074	.	.	.	.	.	T	0.09818	0.0241	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.33574	-0.9863	4	.	.	.	-2.2525	4.0912	0.09970	0.1609:0.2308:0.6083:0.0	.	.	.	.	K	80	.	.	E	+	1	0	MNDA	157084276	0.001000	0.12720	0.027000	0.17364	0.238000	0.25445	-0.315000	0.08081	0.213000	0.20722	0.563000	0.77884	GAG		0.438	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		9	59	0	0	0	1	0	9	59				
ZNF248	57209	broad.mit.edu	37	10	38120759	38120759	+	Silent	SNP	A	A	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr10:38120759A>T	ENST00000395867.3	-	6	2074	c.1524T>A	c.(1522-1524)atT>atA	p.I508I	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Silent_p.I508I|AL135791.1_ENST00000583461.1_RNA	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	508					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)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TTTGATGTACAATGAGGTTTG	0.413																																						ENST00000395867.3																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1522-1524)atT>atA		zinc finger protein 248							116.0	111.0	113.0					10																	38120759		2203	4299	6502	SO:0001819	synonymous_variant	57209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38120759A>T	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1524T>A	10.37:g.38120759A>T						ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Silent_p.I508I|ZNF248_ENST00000374648.3_Intron	p.I508I	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN			6	2074	-			508					Q8NDV8|Q9UMP3	Silent	SNP	ENST00000395867.3	37	c.1524T>A	CCDS7194.1																																																																																				0.413	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		10	63	0	0	0	1	0	10	63				
BCL9L	283149	broad.mit.edu	37	11	118769637	118769637	+	Silent	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:118769637G>T	ENST00000334801.3	-	8	4951	c.3987C>A	c.(3985-3987)atC>atA	p.I1329I	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1329	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CAGAGGGGATGATCCTCGACA	0.622																																						ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(3985-3987)atC>atA		B-cell CLL/lymphoma 9-like							63.0	65.0	64.0					11																	118769637		2200	4295	6495	SO:0001819	synonymous_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118769637G>T	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3987C>A	11.37:g.118769637G>T						BCL9L_ENST00000526143.1_5'UTR	p.I1329I	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	8	4951	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	1329			Pro-rich.		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	c.3987C>A	CCDS8403.1																																																																																				0.622	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		7	58	1	0	0.00307968	1	0.00314812	7	58				
ZNF304	57343	broad.mit.edu	37	19	57867885	57867885	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:57867885C>G	ENST00000282286.5	+	3	821	c.648C>G	c.(646-648)gaC>gaG	p.D216E	ZNF304_ENST00000598744.1_Missense_Mutation_p.D174E|ZNF304_ENST00000391705.3_Missense_Mutation_p.D216E|ZNF304_ENST00000443917.2_Missense_Mutation_p.D263E			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	216					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(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ACCAAGGAGACTATGATGGAC	0.502																																						ENST00000391705.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(646-648)gaC>gaG		zinc finger protein 304							108.0	88.0	95.0					19																	57867885		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57867885C>G	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.648C>G	19.37:g.57867885C>G	ENSP00000282286:p.Asp216Glu					ZNF304_ENST00000598744.1_Missense_Mutation_p.D174E|ZNF304_ENST00000282286.5_Missense_Mutation_p.D216E|ZNF304_ENST00000443917.2_Missense_Mutation_p.D263E	p.D216E	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	4	932	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	216						Missense_Mutation	SNP	ENST00000282286.5	37	c.648C>G	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	c	11.89	1.772755	0.31411	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.14766	2.48;2.48;2.48	3.45	2.39	0.29439	.	.	.	.	.	T	0.11367	0.0277	L	0.38175	1.15	0.09310	N	1	B;B	0.33694	0.281;0.421	B;B	0.30646	0.083;0.118	T	0.19095	-1.0316	9	0.72032	D	0.01	.	9.9152	0.41430	0.3665:0.6335:0.0:0.0	.	216;263	Q9HCX3;E7EQD3	ZN304_HUMAN;.	E	216;216;263	ENSP00000282286:D216E;ENSP00000375586:D216E;ENSP00000401642:D263E	ENSP00000282286:D216E	D	+	3	2	ZNF304	62559697	0.000000	0.05858	0.022000	0.16811	0.366000	0.29705	-0.046000	0.11983	1.017000	0.39495	0.552000	0.68991	GAC		0.502	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			6	57	0	0	0	1	0	6	57				
FAM86EP	348926	broad.mit.edu	37	4	3954881	3954881	+	RNA	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr4:3954881C>G	ENST00000313946.8	-	0	111				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		TGATGAGTCTCTTAACTTTGC	0.473																																						ENST00000281228.8																			0																																																			0							g.chr4:3954881C>G			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3954881C>G						FAM86EP_ENST00000313946.8_RNA								0	117	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.473	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			5	70	0	0	0	1	0	5	70				
WNT3A	89780	broad.mit.edu	37	1	228210482	228210482	+	Silent	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:228210482C>T	ENST00000284523.1	+	2	264	c.186C>T	c.(184-186)atC>atT	p.I62I	WNT3A_ENST00000366753.2_Silent_p.I62I	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	62					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|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)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				ACGTGGAGATCATGCCCAGCG	0.657																																						ENST00000284523.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(184-186)atC>atT		wingless-type MMTV integration site family, member 3A							56.0	54.0	55.0					1																	228210482		2203	4300	6503	SO:0001819	synonymous_variant	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228210482C>T	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.186C>T	1.37:g.228210482C>T						WNT3A_ENST00000366753.2_Silent_p.I62I	p.I62I	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN			2	264	+		Prostate(94;0.0405)	62					Q3SY79|Q3SY80|Q969P2	Silent	SNP	ENST00000284523.1	37	c.186C>T	CCDS1564.1																																																																																				0.657	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		12	68	0	0	0	1	0	12	68				
TCL1A	8115	broad.mit.edu	37	14	96178588	96178588	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:96178588G>T	ENST00000402399.1	-	2	395	c.266C>A	c.(265-267)tCc>tAc	p.S89Y	RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000554012.1_Missense_Mutation_p.S89Y|TCL1A_ENST00000556450.1_Missense_Mutation_p.S89Y|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000555202.1_Missense_Mutation_p.S89Y	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	89					multicellular organismal development (GO:0007275)|stem cell maintenance (GO:0019827)	cell cortex (GO:0005938)|endoplasmic reticulum (GO:0005783)|pronucleus (GO:0045120)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CCAGAAACTGGAGTCTGAGGA	0.567			T	TRA@	T-CLL																																Ovarian(96;1068 2019 35393 39316)	ENST00000402399.1				Dom	yes		14	14q32.1	8115	T	T-cell leukemia/lymphoma 1A			L	TRA@		T-CLL		0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12						c.(265-267)tCc>tAc		T-cell leukemia/lymphoma 1A							179.0	165.0	170.0					14																	96178588		2203	4300	6503	SO:0001583	missense	8115				multicellular organismal development	endoplasmic reticulum|microsome		g.chr14:96178588G>T	X82240	CCDS9941.1	14q32.1	2008-07-03				ENSG00000100721			11648	protein-coding gene	gene with protein product		186960				2783489, 7809072	Standard	NM_021966		Approved	TCL1	uc001yfb.4	P56279		ENST00000402399.1:c.266C>A	14.37:g.96178588G>T	ENSP00000385036:p.Ser89Tyr					RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000554012.1_Missense_Mutation_p.S89Y|TCL1A_ENST00000555202.1_Missense_Mutation_p.S89Y|RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000556450.1_Missense_Mutation_p.S89Y	p.S89Y	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	2	395	-		all_cancers(154;0.103)	89					Q6IBK7	Missense_Mutation	SNP	ENST00000402399.1	37	c.266C>A	CCDS9941.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.894833	0.52121	.	.	ENSG00000100721	ENST00000554012;ENST00000402399;ENST00000556450;ENST00000555202	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	3.61	3.61	0.41365	.	0.221297	0.32120	N	0.006560	T	0.61788	0.2375	M	0.81341	2.54	0.32916	D	0.515214	D	0.76494	0.999	D	0.67103	0.949	T	0.73338	-0.4014	10	0.87932	D	0	-27.7518	11.061	0.47946	0.0:0.0:1.0:0.0	.	89	P56279	TCL1A_HUMAN	Y	89	ENSP00000451506:S89Y;ENSP00000385036:S89Y;ENSP00000450701:S89Y;ENSP00000450496:S89Y	ENSP00000385036:S89Y	S	-	2	0	TCL1A	95248341	0.848000	0.29623	0.811000	0.32455	0.635000	0.38103	1.496000	0.35638	2.319000	0.78375	0.462000	0.41574	TCC		0.567	TCL1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413246.1			15	121	1	0	1.3612e-06	1	1.44943e-06	15	121				
PRDM9	56979	broad.mit.edu	37	5	23510065	23510065	+	Missense_Mutation	SNP	G	G	A	rs375716818		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr5:23510065G>A	ENST00000296682.3	+	4	412	c.230G>A	c.(229-231)cGa>cAa	p.R77Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	77	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGTGTCACCGAAGGCAGGCC	0.468										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(229-231)cGa>cAa		PR domain containing 9		G	GLN/ARG	2,3722		0,2,1860	79.0	75.0	76.0		230	0.5	0.5	5		76	0,8212		0,0,4106	no	missense	PRDM9	NM_020227.2	43	0,2,5966	AA,AG,GG		0.0,0.0537,0.0168	benign	77/895	23510065	2,11934	1862	4106	5968	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23510065G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.230G>A	5.37:g.23510065G>A	ENSP00000296682:p.Arg77Gln	HNSCC(3;0.000094)					p.R77Q	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			4	412	+			77			KRAB-related.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.230G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.526064	0.27299	5.37E-4	0.0	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.00792	5.69;5.69	3.79	0.473	0.16763	Krueppel-associated box (2);Krueppel-associated box-related (1);	.	.	.	.	T	0.00580	0.0019	N	0.24115	0.695	0.09310	N	1	B	0.26845	0.161	B	0.12156	0.007	T	0.45160	-0.9280	9	0.14252	T	0.57	2.4103	5.9073	0.19008	0.4259:0.0:0.5741:0.0	.	77	Q9NQV7	PRDM9_HUMAN	Q	77	ENSP00000425471:R77Q;ENSP00000296682:R77Q	ENSP00000296682:R77Q	R	+	2	0	PRDM9	23545822	0.696000	0.27757	0.530000	0.27963	0.941000	0.58515	0.639000	0.24690	-0.005000	0.14395	0.609000	0.83330	CGA		0.468	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		9	36	0	0	0	1	0	9	36				
HINFP	25988	broad.mit.edu	37	11	119004898	119004898	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr11:119004898T>C	ENST00000350777.2	+	10	1307	c.1244T>C	c.(1243-1245)cTg>cCg	p.L415P	HINFP_ENST00000527410.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	415	Interaction with NPAT.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGATCGGGCCTGGGAACGTCG	0.567											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000350777.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1243-1245)cTg>cCg		histone H4 transcription factor							62.0	63.0	63.0					11																	119004898		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119004898T>C	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.1244T>C	11.37:g.119004898T>C	ENSP00000318085:p.Leu415Pro		OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492	HINFP_ENST00000527410.1_3'UTR	p.L415P	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN			10	1307	+			415			Interaction with NPAT.		B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.1244T>C	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	T	8.652	0.898551	0.17686	.	.	ENSG00000172273	ENST00000350777	T	0.08720	3.06	5.31	1.72	0.24424	.	0.364292	0.20332	N	0.094416	T	0.02727	0.0082	N	0.02916	-0.46	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.41680	-0.9495	10	0.28530	T	0.3	-2.8576	3.2646	0.06860	0.2272:0.3059:0.0:0.4669	.	415	Q9BQA5	HINFP_HUMAN	P	415	ENSP00000318085:L415P	ENSP00000318085:L415P	L	+	2	0	HINFP	118510108	0.997000	0.39634	0.694000	0.30210	0.446000	0.32137	1.007000	0.29860	0.489000	0.27749	0.533000	0.62120	CTG		0.567	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		9	50	0	0	0	1	0	9	50				
MDGA2	161357	broad.mit.edu	37	14	47530616	47530616	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:47530616C>T	ENST00000399232.2	-	7	1518	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	MDGA2_ENST00000357362.3_Missense_Mutation_p.R156Q|MDGA2_ENST00000426342.1_Missense_Mutation_p.R156Q|MDGA2_ENST00000439988.3_Missense_Mutation_p.R454Q	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	385	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R156Q(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AATGACCATCCGCTCAGAACT	0.418																																						ENST00000426342.1																			1	Substitution - Missense(1)	p.R156Q(1)	ovary(1)	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.(466-468)cGg>cAg		MAM domain containing glycosylphosphatidylinositol anchor 2							158.0	142.0	147.0					14																	47530616		1897	4112	6009	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47530616C>T	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.1154G>A	14.37:g.47530616C>T	ENSP00000382178:p.Arg385Gln					MDGA2_ENST00000439988.2_Missense_Mutation_p.R385Q|MDGA2_ENST00000399232.2_Missense_Mutation_p.R454Q|MDGA2_ENST00000357362.3_Missense_Mutation_p.R156Q	p.R156Q	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			7	1213	-			385			Ig-like 2.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.467G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.282825	0.95489	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.64	5.64	0.86602	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47455	U	0.000235	T	0.70928	0.3280	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.73930	-0.3827	10	0.87932	D	0	.	18.2795	0.90094	0.0:1.0:0.0:0.0	.	385	Q7Z553	MDGA2_HUMAN	Q	385;156;454;156	ENSP00000400011:R385Q;ENSP00000405456:R156Q;ENSP00000382178:R454Q;ENSP00000349925:R156Q	ENSP00000349925:R156Q	R	-	2	0	MDGA2	46600366	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.658000	0.90341	0.655000	0.94253	CGG		0.418	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		13	91	0	0	0	1	0	13	91				
ZMYM6	9204	broad.mit.edu	37	1	35485040	35485040	+	Silent	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:35485040G>C	ENST00000357182.4	-	4	569	c.342C>G	c.(340-342)ctC>ctG	p.L114L	ZMYM6_ENST00000373340.2_Silent_p.L114L|ZMYM6_ENST00000487874.1_Silent_p.L114L|ZMYM6_ENST00000373333.1_Silent_p.L114L|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000317538.5_Silent_p.L114L	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	114					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TGGAGCAGAAGAGCTGAGTAG	0.428																																						ENST00000357182.4																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44						c.(340-342)ctC>ctG		zinc finger, MYM-type 6							179.0	160.0	166.0					1																	35485040		2203	4300	6503	SO:0001819	synonymous_variant	9204				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chr1:35485040G>C	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.342C>G	1.37:g.35485040G>C						ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000373333.1_Silent_p.L114L|ZMYM6_ENST00000487874.1_Silent_p.L114L|ZMYM6_ENST00000317538.5_Silent_p.L114L|ZMYM6_ENST00000373340.2_Silent_p.L114L	p.L114L	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN			4	569	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)	114					B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Silent	SNP	ENST00000357182.4	37	c.342C>G	CCDS387.2																																																																																				0.428	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167		15	69	0	0	0	1	0	15	69				
MYLK3	91807	broad.mit.edu	37	16	46762977	46762977	+	Silent	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:46762977G>A	ENST00000394809.4	-	7	1846	c.1731C>T	c.(1729-1731)gaC>gaT	p.D577D	MYLK3_ENST00000536476.1_Silent_p.D236D	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	577	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCTCGAAGGCGTCATAGAGCT	0.577																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(1729-1731)gaC>gaT		myosin light chain kinase 3							270.0	221.0	237.0					16																	46762977		2203	4300	6503	SO:0001819	synonymous_variant	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46762977G>A	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1731C>T	16.37:g.46762977G>A						MYLK3_ENST00000536476.1_Silent_p.D236D	p.D577D	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			7	1846	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	577			Protein kinase.		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Silent	SNP	ENST00000394809.4	37	c.1731C>T	CCDS10723.2																																																																																				0.577	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		17	85	0	0	0	1	0	17	85				
DSE	29940	broad.mit.edu	37	6	116757339	116757339	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr6:116757339G>C	ENST00000331677.3	+	7	2152	c.1708G>C	c.(1708-1710)Gac>Cac	p.D570H	DSE_ENST00000359564.2_Missense_Mutation_p.D570H|DSE_ENST00000452085.3_Missense_Mutation_p.D570H|DSE_ENST00000537543.1_Missense_Mutation_p.D589H			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	570					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCTCCTTGTAGACCAAATACA	0.502																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1708-1710)Gac>Cac		dermatan sulfate epimerase							52.0	53.0	53.0					6																	116757339		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116757339G>C	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1708G>C	6.37:g.116757339G>C	ENSP00000332151:p.Asp570His					DSE_ENST00000452085.3_Missense_Mutation_p.D570H|DSE_ENST00000537543.1_Missense_Mutation_p.D589H|DSE_ENST00000359564.2_Missense_Mutation_p.D570H	p.D570H			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	7	2152	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	570					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.1708G>C	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925444	0.73213	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.45276	0.91;0.9;0.91;0.91	6.01	6.01	0.97437	.	0.042732	0.85682	D	0.000000	T	0.63070	0.2480	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64097	-0.6487	10	0.87932	D	0	-25.0831	20.5211	0.99222	0.0:0.0:1.0:0.0	.	589;570	B7Z765;Q9UL01	.;DSE_HUMAN	H	570;589;570;570	ENSP00000404049:D570H;ENSP00000441152:D589H;ENSP00000332151:D570H;ENSP00000352567:D570H	ENSP00000332151:D570H	D	+	1	0	DSE	116864032	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	GAC		0.502	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		9	20	0	0	0	1	0	9	20				
TRBV7-6	28592	broad.mit.edu	37	7	142139461	142139461	+	RNA	SNP	C	C	T	rs375037927		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr7:142139461C>T	ENST00000390374.3	-	0	208									T cell receptor beta variable 7-6																		CAGGGCCTGTCGGTACCAATA	0.517													.|||	1	0.000199681	0.0	0.0	5008	,	,		16059	0.0		0.001	False		,,,				2504	0.0					ENST00000390374.3																			0															C		0,3704		0,0,1852	81.0	79.0	80.0			-7.5	0.0	7		80	1,8205		0,1,4102	no	intergenic				0,1,5954	TT,TC,CC		0.0122,0.0,0.0084			142139461	1,11909	1852	4103	5955			28592							g.chr7:142139461C>T	L36092		7q34	2012-02-07			ENSG00000211727	ENSG00000211727		"""T cell receptors / TRB locus"""	12240	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV76, TCRBV6S3A1N1T, TCRBV7S6			OTTHUMG00000158882		7.37:g.142139461C>T														0	208	-									RNA	SNP	ENST00000390374.3	37																																																																																						0.517	TRBV7-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352490.2	NG_001333		5	88	0	0	0	1	0	5	88				
CACNA2D2	9254	broad.mit.edu	37	3	50413396	50413396	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:50413396C>G	ENST00000479441.1	-	19	1770	c.1771G>C	c.(1771-1773)Gag>Cag	p.E591Q	CACNA2D2_ENST00000395083.1_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.E522Q|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.E591Q			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	591					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ctccttacctcttccttgttc	0.592																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(1771-1773)Gag>Cag		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)						89.0	78.0	82.0					3																	50413396		2203	4300	6503	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50413396C>G	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.1771G>C	3.37:g.50413396C>G	ENSP00000418081:p.Glu591Gln					CACNA2D2_ENST00000479441.1_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.E522Q|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.E591Q|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.E591Q	p.E591Q			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	19	1944	-			591					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.1771G>C	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806184	0.70682	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	4.25	4.25	0.50352	Voltage-dependent calcium channel, alpha-2/delta subunit, conserved region (1);	0.000000	0.85682	D	0.000000	T	0.77061	0.4075	M	0.71581	2.175	0.58432	D	0.999997	B;P	0.38582	0.201;0.638	B;B	0.38378	0.14;0.272	T	0.77920	-0.2407	10	0.33940	T	0.23	-14.2803	16.2604	0.82536	0.0:1.0:0.0:0.0	.	591;591	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	Q	591;591;591;522;591;591;591;591	ENSP00000407393:E591Q;ENSP00000404631:E591Q;ENSP00000266039:E591Q;ENSP00000354228:E522Q;ENSP00000390526:E591Q;ENSP00000378519:E591Q;ENSP00000390329:E591Q;ENSP00000418081:E591Q	ENSP00000266039:E591Q	E	-	1	0	CACNA2D2	50388400	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.774000	0.85478	1.902000	0.55061	0.462000	0.41574	GAG		0.592	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		13	61	0	0	0	1	0	13	61				
CEP83	51134	broad.mit.edu	37	12	94761952	94761952	+	Silent	SNP	G	G	C			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr12:94761952G>C	ENST00000397809.5	-	10	1623	c.1074C>G	c.(1072-1074)ctC>ctG	p.L358L	CCDC41_ENST00000549352.1_5'Flank|CCDC41_ENST00000397807.2_Silent_p.L325L|CCDC41_ENST00000339839.5_Silent_p.L358L	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		350					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CAGCTGCTTTGAGAATTTCAT	0.328																																						ENST00000397809.5																			0				breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						c.(1072-1074)ctC>ctG		coiled-coil domain containing 41							92.0	79.0	83.0					12																	94761952		1841	4086	5927	SO:0001819	synonymous_variant	51134							g.chr12:94761952G>C																												ENST00000397809.5:c.1074C>G	12.37:g.94761952G>C						CCDC41_ENST00000397807.2_Silent_p.L325L|CCDC41_ENST00000339839.5_Silent_p.L358L	p.L358L	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN			10	1623	-			350					A4FVB1|Q08AP1	Silent	SNP	ENST00000397809.5	37	c.1074C>G	CCDS41820.1																																																																																				0.328	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			4	18	0	0	0	1	0	4	18				
IFNA21	3452	broad.mit.edu	37	9	21166096	21166096	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr9:21166096C>A	ENST00000380225.1	-	1	563	c.516G>T	c.(514-516)atG>atT	p.M172I		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	172					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAAGGATCTCATGATTTCTG	0.383																																						ENST00000380225.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14						c.(514-516)atG>atT		interferon, alpha 21							187.0	190.0	189.0					9																	21166096		2203	4300	6503	SO:0001583	missense	3452				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21166096C>A		CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"""Interferons"""	5424	protein-coding gene	gene with protein product	"""leukocyte interferon protein"""	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.516G>T	9.37:g.21166096C>A	ENSP00000369574:p.Met172Ile						p.M172I	NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN		GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	563	-			172					Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	ENST00000380225.1	37	c.516G>T	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	10.66	1.412518	0.25465	.	.	ENSG00000137080	ENST00000380225	T	0.03524	3.9	4.02	3.09	0.35607	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.986604	0.08283	N	0.969605	T	0.10165	0.0249	M	0.87456	2.885	0.09310	N	0.999998	B	0.02656	0.0	B	0.17098	0.017	T	0.21655	-1.0239	10	0.62326	D	0.03	.	10.7764	0.46353	0.0:0.8065:0.1935:0.0	.	172	P01568	IFN21_HUMAN	I	172	ENSP00000369574:M172I	ENSP00000369574:M172I	M	-	3	0	IFNA21	21156096	0.000000	0.05858	0.018000	0.16275	0.761000	0.43186	-0.177000	0.09796	0.867000	0.35654	0.644000	0.83932	ATG		0.383	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		33	150	1	0	4.31634e-10	1	4.79593e-10	33	150				
MED30	90390	broad.mit.edu	37	8	118540969	118540969	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr8:118540969C>T	ENST00000297347.3	+	2	421	c.257C>T	c.(256-258)tCa>tTa	p.S86L	MED30_ENST00000522839.1_Missense_Mutation_p.S86L	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	mediator complex subunit 30	86					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			kidney(1)|lung(3)|prostate(3)	7	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		STAD - Stomach adenocarcinoma(47;0.0266)			CGCCAACTTTCAGTTCTCTTC	0.413																																					Melanoma(81;817 1341 9674 26244 29255)	ENST00000297347.3																			0				kidney(1)|lung(3)|prostate(3)	7						c.(256-258)tCa>tTa		mediator complex subunit 30							126.0	121.0	123.0					8																	118540969		2203	4300	6503	SO:0001583	missense	90390				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr8:118540969C>T	AY083305	CCDS6323.1, CCDS64959.1	8q24.11	2007-07-30	2007-07-30	2007-07-30	ENSG00000164758	ENSG00000164758			23032	protein-coding gene	gene with protein product		610237	"""thyroid hormone receptor associated protein 6"""	THRAP6			Standard	NM_080651		Approved	TRAP25	uc003yoj.3	Q96HR3	OTTHUMG00000164920	ENST00000297347.3:c.257C>T	8.37:g.118540969C>T	ENSP00000297347:p.Ser86Leu					MED30_ENST00000522839.1_Missense_Mutation_p.S86L	p.S86L	NM_080651.2	NP_542382.1	Q96HR3	MED30_HUMAN	STAD - Stomach adenocarcinoma(47;0.0266)		2	421	+	all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163)		86					C6GKU9	Missense_Mutation	SNP	ENST00000297347.3	37	c.257C>T	CCDS6323.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179656	0.78564	.	.	ENSG00000164758	ENST00000297347;ENST00000522839	.	.	.	5.95	5.95	0.96441	Mediator complex, subunit Med30, metazoa (1);	0.055095	0.85682	D	0.000000	T	0.61337	0.2339	L	0.36672	1.1	0.80722	D	1	P;P	0.51791	0.948;0.948	P;P	0.51866	0.682;0.682	T	0.57063	-0.7875	9	0.38643	T	0.18	-14.9115	19.3629	0.94448	0.0:1.0:0.0:0.0	.	86;86	C6GKU9;Q96HR3	.;MED30_HUMAN	L	86	.	ENSP00000297347:S86L	S	+	2	0	MED30	118610150	1.000000	0.71417	0.150000	0.22450	0.506000	0.33950	7.433000	0.80362	2.817000	0.96982	0.563000	0.77884	TCA		0.413	MED30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380923.1	NM_080651		20	46	0	0	0	1	0	20	46				
TGFBR2	7048	broad.mit.edu	37	3	30732942	30732942	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr3:30732942G>A	ENST00000295754.5	+	7	1937	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	TGFBR2_ENST00000359013.4_Missense_Mutation_p.E544K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	519	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.E519K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACGTTGACTGAGTGCTGGGA	0.617																																						ENST00000295754.5																			1	Substitution - Missense(1)	p.E519K(1)	upper_aerodigestive_tract(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53	GRCh37	CM064336	TGFBR2	M		c.(1555-1557)Gag>Aag		transforming growth factor, beta receptor II (70/80kDa)							71.0	61.0	64.0					3																	30732942		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30732942G>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1555G>A	3.37:g.30732942G>A	ENSP00000295754:p.Glu519Lys					TGFBR2_ENST00000359013.4_Missense_Mutation_p.E544K	p.E519K	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			7	1937	+			519			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1555G>A	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278299	0.95459	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	T;T	0.63580	-0.05;-0.05	5.91	5.03	0.67393	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.095303	0.64402	D	0.000001	T	0.72112	0.3420	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.75736	-0.3213	10	0.87932	D	0	.	16.3682	0.83343	0.0:0.0:0.8671:0.1329	.	519;544	P37173;D2JYI1	TGFR2_HUMAN;.	K	519;544;349	ENSP00000295754:E519K;ENSP00000351905:E544K	ENSP00000295754:E519K	E	+	1	0	TGFBR2	30707946	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	9.869000	0.99810	1.469000	0.48083	0.655000	0.94253	GAG		0.617	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			11	52	0	0	0	1	0	11	52				
SH2D3A	10045	broad.mit.edu	37	19	6755320	6755320	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr19:6755320G>A	ENST00000245908.6	-	5	772	c.503C>T	c.(502-504)tCc>tTc	p.S168F	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Missense_Mutation_p.S46F	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	168					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGGCATGGTGGAGGCTTCTAG	0.592																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(502-504)tCc>tTc		SH2 domain containing 3A							83.0	87.0	85.0					19																	6755320		2202	4299	6501	SO:0001583	missense	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6755320G>A	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.503C>T	19.37:g.6755320G>A	ENSP00000245908:p.Ser168Phe					SH2D3A_ENST00000437152.3_Missense_Mutation_p.S46F|SH2D3A_ENST00000599563.1_5'UTR	p.S168F	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			5	772	-			168					A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	c.503C>T	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	G	7.509	0.654290	0.14580	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.32988	2.42;1.43	3.95	0.386	0.16254	.	0.966702	0.08391	N	0.952978	T	0.28499	0.0705	M	0.61703	1.905	0.09310	N	1	B;B	0.32653	0.002;0.379	B;B	0.25405	0.005;0.06	T	0.21484	-1.0244	10	0.62326	D	0.03	-1.995	8.4275	0.32737	0.3117:0.0:0.6883:0.0	.	46;168	B4DRS7;Q9BRG2	.;SH23A_HUMAN	F	168;46	ENSP00000245908:S168F;ENSP00000393303:S46F	ENSP00000245908:S168F	S	-	2	0	SH2D3A	6706320	0.001000	0.12720	0.009000	0.14445	0.001000	0.01503	0.184000	0.16939	-0.029000	0.13827	-1.786000	0.00637	TCC		0.592	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		11	108	0	0	0	1	0	11	108				
DYX1C1	161582	broad.mit.edu	37	15	55790509	55790509	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr15:55790509C>T	ENST00000321149.3	-	2	386	c.19G>A	c.(19-21)Gat>Aat	p.D7N	DYX1C1_ENST00000348518.3_Missense_Mutation_p.D7N|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Missense_Mutation_p.D7N|DYX1C1_ENST00000457155.2_Missense_Mutation_p.D7N|DYX1C1_ENST00000380679.1_Missense_Mutation_p.D7N	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	7	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Mediates interaction with ESR1 and STUB1.				cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CAGCTGTAATCGCTAACCTGA	0.572																																						ENST00000321149.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(19-21)Gat>Aat		dyslexia susceptibility 1 candidate 1							46.0	41.0	43.0					15																	55790509		2193	4292	6485	SO:0001583	missense	161582				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	g.chr15:55790509C>T		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.19G>A	15.37:g.55790509C>T	ENSP00000323275:p.Asp7Asn					DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000457155.2_Missense_Mutation_p.D7N|DYX1C1_ENST00000448430.2_Missense_Mutation_p.D7N|DYX1C1_ENST00000348518.3_Missense_Mutation_p.D7N|DYX1C1_ENST00000380679.1_Missense_Mutation_p.D7N	p.D7N	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	2	386	-			7			CS.|Mediates interaction with ESR1 and STUB1.		Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	c.19G>A	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019049	0.54576	.	.	ENSG00000256061	ENST00000420792;ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68	4.92	2.05	0.26809	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.284900	0.30695	U	0.009072	T	0.10766	0.0263	L	0.42487	1.325	0.33815	D	0.628294	B;P;B	0.36282	0.233;0.546;0.161	B;B;B	0.32149	0.059;0.141;0.022	T	0.15636	-1.0430	10	0.59425	D	0.04	-12.2214	9.0999	0.36662	0.0:0.7588:0.0:0.2412	.	7;7;7	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	N	7	ENSP00000403412:D7N;ENSP00000370054:D7N;ENSP00000402640:D7N;ENSP00000323275:D7N;ENSP00000299561:D7N	ENSP00000323275:D7N	D	-	1	0	DYX1C1	53577801	0.894000	0.30519	0.998000	0.56505	0.958000	0.62258	1.789000	0.38724	0.282000	0.22254	0.655000	0.94253	GAT		0.572	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		3	32	0	0	0	1	0	3	32				
TAS1R1	80835	broad.mit.edu	37	1	6638800	6638801	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr1:6638800_6638801insT	ENST00000333172.6	+	6	1875_1876	c.1682_1683insT	c.(1681-1686)gctttgfs	p.L562fs	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000351136.3_Frame_Shift_Ins_p.L308fs|TAS1R1_ENST00000328191.4_Frame_Shift_Ins_p.L450fs	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	562					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GTGTTTTTGGCTTTGCGTGAGC	0.594																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(1681-1683)gttfs		taste receptor, type 1, member 1																																				SO:0001589	frameshift_variant	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6638800_6638801insT		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1685dupT	1.37:g.6638803_6638803dupT	ENSP00000331867:p.Leu562fs					TAS1R1_ENST00000351136.3_Frame_Shift_Ins_p.V307fs|TAS1R1_ENST00000328191.4_Frame_Shift_Ins_p.L450fs	p.V561fs	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	1875_1876	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	561					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Frame_Shift_Ins	INS	ENST00000333172.6	37	c.1682_1683insT	CCDS81.1																																																																																				0.594	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			11	62						11	62	---	---	---	---
RTL1	388015	broad.mit.edu	37	14	101350670	101350671	+	In_Frame_Ins	INS	-	-	TCT	rs55755518|rs397823434|rs35401447	byFrequency	TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr14:101350670_101350671insTCT	ENST00000534062.1	-	1	513_514	c.455_456insAGA	c.(454-456)gag>gaAGAg	p.152_152E>EE	MIR136_ENST00000385207.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	152					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTGGTTTTGCTCTTGAGGAGT	0.52														784	0.15655	0.0847	0.1902	5008	,	,		20517	0.0575		0.2684	False		,,,				2504	0.2168					ENST00000534062.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(454-456)gca>gAGAca		retrotransposon-like 1				459,3511		59,341,1585						2.5	0.0		dbSNP_126	223	2155,5335		412,1331,2002	no	coding	RTL1	NM_001134888.2		471,1672,3587	A1A1,A1R,RR		28.7717,11.5617,22.8098				2614,8846				SO:0001652	inframe_insertion	388015							g.chr14:101350670_101350671insTCT		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.453_455dupAGA	14.37:g.101350671_101350673dupTCT	ENSP00000435342:p.Glu152dup						p.152_152A>ET	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	513_514	-			152					E9PKS8	In_Frame_Ins	INS	ENST00000534062.1	37	c.455_456insAGA	CCDS53910.1																																																																																				0.520	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		4	2						4	2	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr15:23331163delA	ENST00000560464.1	-	0	908									hect domain and RLD 2 pseudogene 2																		AATAAATACTAAAAAAAAAAA	0.368																																						ENST00000560464.1																			0																																																			400322							g.chr15:23331163delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23331163delA														0	908	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.368	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			2	4						2	4	---	---	---	---
RRN3P1	730092	broad.mit.edu	37	16	21817398	21817399	+	RNA	INS	-	-	A	rs371932459|rs144931984|rs149686515		TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr16:21817398_21817399insA	ENST00000546471.1	-	0	1607							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		TAAATGaaaataaaaaaataaa	0.302																																						ENST00000546471.1																			0																																																			730092							g.chr16:21817398_21817399insA			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817405_21817405dupA														0	1607	-								A8K6T4|B3KWX9|O75704	RNA	INS	ENST00000546471.1	37																																																																																						0.302	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		3	4						3	4	---	---	---	---
PEX12	5193	broad.mit.edu	37	17	33900515	33900515	+	IGR	DEL	A	A	-			TCGA-CV-A45P-01A-11D-A24D-08	TCGA-CV-A45P-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f549e1c1-2f03-406b-9e53-a168ab563497	103eab8b-efd9-419d-b67e-067ad130dd6f	g.chr17:33900515delA	ENST00000225873.4	-	0	2675				SNORD7_ENST00000384567.1_RNA|RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12						peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		accctgtcttaaaaaaaaaaa	0.413																																						ENST00000592381.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:33900515delA	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951		17.37:g.33900515delA														0	382	+								B2R6M2	RNA	DEL	ENST00000225873.4	37		CCDS11296.1																																																																																				0.413	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		2	4						2	4	---	---	---	---
