#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
C1orf106	55765	broad.mit.edu	37	1	200880764	200880764	+	Missense_Mutation	SNP	C	C	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:200880764C>A	ENST00000367342.4	+	9	1598	c.1398C>A	c.(1396-1398)caC>caA	p.H466Q	C1orf106_ENST00000413687.2_Missense_Mutation_p.H381Q	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	466										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCATCTCCCACCCCACTTCGC	0.677																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1396-1398)caC>caA		chromosome 1 open reading frame 106							76.0	83.0	80.0					1																	200880764		2203	4300	6503	SO:0001583	missense	55765							g.chr1:200880764C>A	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1398C>A	1.37:g.200880764C>A	ENSP00000356311:p.His466Gln					C1orf106_ENST00000413687.2_Missense_Mutation_p.H381Q	p.H466Q	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			9	1598	+			466					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	ENST00000367342.4	37	c.1398C>A		.	.	.	.	.	.	.	.	.	.	C	16.05	3.014146	0.54468	.	.	ENSG00000163362	ENST00000367342;ENST00000413687	T;T	0.32515	1.45;1.45	4.75	2.81	0.32909	.	0.086995	0.52532	D	0.000068	T	0.22781	0.0550	N	0.24115	0.695	0.27851	N	0.940732	D	0.56968	0.978	P	0.49140	0.601	T	0.04946	-1.0916	10	0.29301	T	0.29	-22.4085	6.8646	0.24086	0.0:0.6936:0.0:0.3064	.	466	Q3KP66	CA106_HUMAN	Q	466;381	ENSP00000356311:H466Q;ENSP00000392105:H381Q	ENSP00000356311:H466Q	H	+	3	2	C1orf106	199147387	0.910000	0.30920	1.000000	0.80357	0.634000	0.38068	0.285000	0.18883	0.965000	0.38133	0.555000	0.69702	CAC		0.677	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		30	263	1	0	2.25844e-05	1	2.32031e-05	30	263				
BCLAF1	9774	broad.mit.edu	37	6	136599647	136599647	+	Missense_Mutation	SNP	T	T	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr6:136599647T>G	ENST00000531224.1	-	4	624	c.372A>C	c.(370-372)agA>agC	p.R124S	BCLAF1_ENST00000527536.1_Missense_Mutation_p.R124S|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R122S|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R122S|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R124S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R122S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	124					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGCTTCTGGATCTTTGAGAAG	0.448																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(370-372)agA>agC		BCL2-associated transcription factor 1							183.0	194.0	191.0					6																	136599647		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599647T>G	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.372A>C	6.37:g.136599647T>G	ENSP00000435210:p.Arg124Ser					BCLAF1_ENST00000530767.1_Missense_Mutation_p.R124S|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R122S|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R124S|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R122S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R122S	p.R124S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	624	-	Colorectal(23;0.24)		124					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.372A>C	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	11.82	1.752431	0.31046	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.64	2.01	0.26516	.	0.000000	0.64402	D	0.000001	T	0.10809	0.0264	L	0.31578	0.945	0.80722	D	1	D;D;D;D	0.57899	0.981;0.981;0.981;0.981	D;D;D;D	0.66351	0.943;0.943;0.943;0.943	T	0.09122	-1.0689	10	0.15066	T	0.55	-11.4256	8.8411	0.35142	0.0:0.2999:0.0:0.7001	.	122;122;124;124	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	S	124;122;124;124;122;122;124	ENSP00000435210:R124S;ENSP00000229446:R122S;ENSP00000435441:R124S;ENSP00000436501:R124S;ENSP00000434826:R122S;ENSP00000376159:R122S;ENSP00000431734:R124S	ENSP00000229446:R122S	R	-	3	2	BCLAF1	136641340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.505000	0.22642	0.425000	0.26087	0.455000	0.32223	AGA		0.448	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		14	210	0	0	0	1	0	14	210				
CNGA3	1261	broad.mit.edu	37	2	98999903	98999903	+	Splice_Site	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr2:98999903G>A	ENST00000272602.2	+	4	487	c.448G>A	c.(448-450)Gag>Aag	p.E150K	CNGA3_ENST00000393504.1_Splice_Site_p.E150K|CNGA3_ENST00000409937.1_Splice_Site_p.E154K|CNGA3_ENST00000436404.2_Intron			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	150					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CACGGAGGAGGAGTAAGTACC	0.592																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.e5+1		cyclic nucleotide gated channel alpha 3							120.0	104.0	110.0					2																	98999903		2203	4300	6503	SO:0001630	splice_region_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:98999903G>A	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.449+1G>A	2.37:g.98999903G>A						CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000409937.1_Splice_Site_p.E154_splice|CNGA3_ENST00000272602.2_Splice_Site_p.E150_splice	p.E150_splice	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			5	865	+			150					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Splice_Site	SNP	ENST00000272602.2	37	c.449_splice	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	G	7.343	0.621387	0.14193	.	.	ENSG00000144191	ENST00000393504;ENST00000272602;ENST00000409937	D;D;D	0.97430	-4.22;-4.22;-4.38	4.89	2.08	0.27032	.	0.891913	0.09456	U	0.799814	D	0.85647	0.5745	N	0.00778	-1.195	0.22710	N	0.99883	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.77186	-0.2680	10	0.02654	T	1	.	8.3407	0.32241	0.2617:0.0:0.7383:0.0	.	154;150	E9PF93;Q16281	.;CNGA3_HUMAN	K	150;150;154	ENSP00000377140:E150K;ENSP00000272602:E150K;ENSP00000386761:E154K	ENSP00000272602:E150K	E	+	1	0	CNGA3	98366335	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	3.910000	0.56371	0.683000	0.31428	-0.142000	0.14014	GAG		0.592	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298	Missense_Mutation	19	75	0	0	0	1	0	19	75				
MYOM3	127294	broad.mit.edu	37	1	24390563	24390563	+	Splice_Site	SNP	G	G	A	rs372739261		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:24390563G>A	ENST00000374434.3	-	30	3783	c.3621C>T	c.(3619-3621)gaC>gaT	p.D1207D	RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Splice_Site_p.D1210D|MYOM3_ENST00000338909.5_Splice_Site_p.D100D	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1207						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AGCTCCTACCGTCACCCGTGA	0.522																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.e30+1		myomesin 3		G		0,4244		0,0,2122	99.0	108.0	105.0		3621	4.7	1.0	1		105	1,8477		0,1,4238	no	coding-synonymous-near-splice	MYOM3	NM_152372.3		0,1,6360	AA,AG,GG		0.0118,0.0,0.0079		1207/1438	24390563	1,12721	2122	4239	6361	SO:0001630	splice_region_variant	127294							g.chr1:24390563G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3622+1C>T	1.37:g.24390563G>A						RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Splice_Site_p.D1207_splice|MYOM3_ENST00000338909.5_Splice_Site_p.D100_splice	p.D1210_splice			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	30	3792	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1207					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Splice_Site	SNP	ENST00000374434.3	37	c.3631_splice	CCDS41281.1																																																																																				0.522	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372	Silent	12	68	0	0	0	1	0	12	68				
ZBTB7B	51043	broad.mit.edu	37	1	154988215	154988215	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:154988215A>G	ENST00000368426.3	+	3	1216	c.1079A>G	c.(1078-1080)aAa>aGa	p.K360R	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.K360R|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.K394R|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.K360R	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	360					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGGCAGGCAAACTGCCTCGC	0.632																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(1078-1080)aAa>aGa		zinc finger and BTB domain containing 7B							47.0	53.0	51.0					1																	154988215		2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988215A>G	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1079A>G	1.37:g.154988215A>G	ENSP00000357411:p.Lys360Arg					ZBTB7B_ENST00000535420.1_Missense_Mutation_p.K360R|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.K360R|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.K394R	p.K360R	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	1216	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		360					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.1079A>G	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	a	16.13	3.035658	0.54896	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	4.08	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.20700	0.0498	L	0.32530	0.975	0.38211	D	0.940469	P;P;P	0.43094	0.799;0.799;0.799	P;B;P	0.46339	0.513;0.411;0.513	T	0.03249	-1.1056	10	0.46703	T	0.11	.	11.0466	0.47863	1.0:0.0:0.0:0.0	.	360;360;394	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	R	360;360;394;360	ENSP00000438647:K360R;ENSP00000357411:K360R;ENSP00000406286:K394R;ENSP00000292176:K360R	ENSP00000292176:K360R	K	+	2	0	ZBTB7B	153254839	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	7.311000	0.78958	1.713000	0.51359	0.379000	0.24179	AAA		0.632	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		17	117	0	0	0	1	0	17	117				
WNT10A	80326	broad.mit.edu	37	2	219747080	219747080	+	Missense_Mutation	SNP	G	G	A	rs374910216		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr2:219747080G>A	ENST00000258411.3	+	2	944	c.311G>A	c.(310-312)cGc>cAc	p.R104H		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	104					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGACCAGCGCTGGAACTGC	0.597																																						ENST00000258411.3																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12						c.(310-312)cGc>cAc		wingless-type MMTV integration site family, member 10A							99.0	94.0	96.0					2																	219747080		2203	4300	6503	SO:0001583	missense	80326				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219747080G>A	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"""Wingless-type MMTV integration sites"""	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.311G>A	2.37:g.219747080G>A	ENSP00000258411:p.Arg104His						p.R104H	NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	944	+		Renal(207;0.0474)	104					Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	37	c.311G>A	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049528	0.93740	.	.	ENSG00000135925	ENST00000258411	T	0.80909	-1.43	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.92361	0.7576	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94384	0.7607	10	0.87932	D	0	.	17.2994	0.87178	0.0:0.0:1.0:0.0	.	104	Q9GZT5	WN10A_HUMAN	H	104	ENSP00000258411:R104H	ENSP00000258411:R104H	R	+	2	0	WNT10A	219455324	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.389000	0.97243	2.334000	0.79466	0.462000	0.41574	CGC		0.597	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216		16	112	0	0	0	1	0	16	112				
TNIP1	10318	broad.mit.edu	37	5	150436454	150436454	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr5:150436454G>A	ENST00000389378.2	-	6	1088	c.500C>T	c.(499-501)aCg>aTg	p.T167M	TNIP1_ENST00000521591.1_Missense_Mutation_p.T167M|TNIP1_ENST00000518977.1_Missense_Mutation_p.T167M|TNIP1_ENST00000523200.1_Missense_Mutation_p.T167M|TNIP1_ENST00000520931.1_Missense_Mutation_p.T114M|TNIP1_ENST00000523338.1_Missense_Mutation_p.T167M|TNIP1_ENST00000315050.7_Missense_Mutation_p.T167M|TNIP1_ENST00000524280.1_Missense_Mutation_p.T167M|TNIP1_ENST00000522226.1_Missense_Mutation_p.T167M	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	167	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACACTCAGCGTGGTCTCCAG	0.672																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(499-501)aCg>aTg		TNFAIP3 interacting protein 1							35.0	36.0	35.0					5																	150436454		2203	4299	6502	SO:0001583	missense	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150436454G>A	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.500C>T	5.37:g.150436454G>A	ENSP00000374029:p.Thr167Met					TNIP1_ENST00000522226.1_Missense_Mutation_p.T167M|TNIP1_ENST00000520931.1_Missense_Mutation_p.T114M|TNIP1_ENST00000524280.1_Missense_Mutation_p.T167M|TNIP1_ENST00000315050.7_Missense_Mutation_p.T167M|TNIP1_ENST00000523338.1_Missense_Mutation_p.T167M|TNIP1_ENST00000523200.1_Missense_Mutation_p.T167M|TNIP1_ENST00000521591.1_Missense_Mutation_p.T167M|TNIP1_ENST00000518977.1_Missense_Mutation_p.T167M	p.T167M	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1088	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	167			Interacts with Nef.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.500C>T	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053016	0.75960	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840;ENST00000522100	T;T;T;T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77	5.03	5.03	0.67393	.	0.055639	0.64402	D	0.000001	T	0.52709	0.1751	M	0.70595	2.14	0.49582	D	0.999803	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.992;0.999;0.992;0.992;0.991;0.995	T	0.56220	-0.8015	10	0.72032	D	0.01	-22.9219	18.7117	0.91659	0.0:0.0:1.0:0.0	.	167;121;121;167;167;167;167	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	M	114;167;167;167;124;124;129;167;167;167;167;167;124;114	ENSP00000429891:T114M;ENSP00000374029:T167M;ENSP00000317891:T167M;ENSP00000428243:T167M;ENSP00000428187:T167M;ENSP00000430760:T167M;ENSP00000430971:T167M;ENSP00000429912:T167M;ENSP00000431105:T167M;ENSP00000428487:T114M	ENSP00000317891:T167M	T	-	2	0	TNIP1	150416647	1.000000	0.71417	0.998000	0.56505	0.565000	0.35776	6.822000	0.75277	2.489000	0.83994	0.655000	0.94253	ACG		0.672	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		14	60	0	0	0	1	0	14	60				
AQP5	362	broad.mit.edu	37	12	50358866	50358866	+	Missense_Mutation	SNP	G	G	A	rs148637740	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr12:50358866G>A	ENST00000293599.6	+	4	852	c.704G>A	c.(703-705)cGt>cAt	p.R235H	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|AQP6_ENST00000551733.1_5'Flank|RP11-469H8.6_ENST00000550214.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	235					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						CTGAGTGAGCGTGTGGCCATC	0.607													G|||	2	0.000399361	0.0	0.0014	5008	,	,		15652	0.0		0.0	False		,,,				2504	0.001					ENST00000293599.6																			0				large_intestine(1)|lung(3)	4						c.(703-705)cGt>cAt		aquaporin 5		G	HIS/ARG	0,4406		0,0,2203	104.0	92.0	96.0		704	5.1	0.3	12	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense	AQP5	NM_001651.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	235/266	50358866	1,13005	2203	4300	6503	SO:0001583	missense	362				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity	g.chr12:50358866G>A	U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"""Ion channels / Aquaporins"""	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.704G>A	12.37:g.50358866G>A	ENSP00000293599:p.Arg235His						p.R235H	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN			4	852	+			235					Q6FGW8	Missense_Mutation	SNP	ENST00000293599.6	37	c.704G>A	CCDS8793.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072606	0.76415	0.0	1.16E-4	ENSG00000161798	ENST00000293599	D	0.88431	-2.38	5.1	5.1	0.69264	Aquaporin-like (1);	0.308756	0.25872	N	0.027757	D	0.93038	0.7784	M	0.82716	2.605	0.40385	D	0.979484	D	0.69078	0.997	P	0.54312	0.748	D	0.94404	0.7625	10	0.87932	D	0	-1.1959	16.3974	0.83613	0.0:0.0:1.0:0.0	.	235	P55064	AQP5_HUMAN	H	235	ENSP00000293599:R235H	ENSP00000293599:R235H	R	+	2	0	AQP5	48645133	0.993000	0.37304	0.334000	0.25495	0.564000	0.35744	6.251000	0.72441	2.554000	0.86153	0.462000	0.41574	CGT		0.607	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405542.2	NM_001651		15	76	0	0	0	1	0	15	76				
ZBTB7B	51043	broad.mit.edu	37	1	154988223	154988223	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:154988223C>T	ENST00000368426.3	+	3	1224	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R363C|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R397C|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R363C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	363					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAAACTGCCTCGCCACATGAG	0.637																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(1087-1089)Cgc>Tgc		zinc finger and BTB domain containing 7B							47.0	53.0	51.0					1																	154988223		2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988223C>T	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1087C>T	1.37:g.154988223C>T	ENSP00000357411:p.Arg363Cys					ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R363C|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R363C|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R397C	p.R363C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	1224	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		363					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.1087C>T	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	c	18.61	3.660813	0.67700	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	4.08	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.33235	0.0856	L	0.48362	1.52	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.07501	-1.0769	10	0.54805	T	0.06	.	13.8102	0.63260	0.0:1.0:0.0:0.0	.	363;363;397	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	C	363;363;397;363	ENSP00000438647:R363C;ENSP00000357411:R363C;ENSP00000406286:R397C;ENSP00000292176:R363C	ENSP00000292176:R363C	R	+	1	0	ZBTB7B	153254847	0.915000	0.31059	0.986000	0.45419	0.916000	0.54674	1.927000	0.40094	2.109000	0.64355	0.462000	0.41574	CGC		0.637	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		69	72	0	0	0	1	0	69	72				
GAS2L2	246176	broad.mit.edu	37	17	34073283	34073283	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr17:34073283G>A	ENST00000254466.6	-	6	1260	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	GAS2L2_ENST00000587565.1_Silent_p.L395L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	411					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTCCCCTGGGGAGTTCAGGGG	0.597																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1231-1233)ctC>ctT		growth arrest-specific 2 like 2							108.0	120.0	116.0					17																	34073283		2203	4300	6503	SO:0001819	synonymous_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34073283G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1233C>T	17.37:g.34073283G>A						GAS2L2_ENST00000587565.1_Silent_p.L395L	p.L411L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1260	-		Ovarian(249;0.17)	411					Q8NHY4	Silent	SNP	ENST00000254466.6	37	c.1233C>T	CCDS11298.1																																																																																				0.597	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		30	156	0	0	0	1	0	30	156				
POLR3F	10621	broad.mit.edu	37	20	18462374	18462374	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr20:18462374G>A	ENST00000377603.4	+	8	1173	c.793G>A	c.(793-795)Gga>Aga	p.G265R	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	265				AKEGTVGSVDGHMKLYRAVNPIIPPTGLVRAPCGLC -> C KRRHSWQCRWTHETVQGSQSNHPSHRFGPGHPVDSA (in Ref. 1). {ECO:0000305}.	defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)	2						CAGTGTAGATGGACACATGAA	0.478																																					GBM(69;898 1468 19907 52011)	ENST00000377603.4																			0				breast(2)	2						c.(793-795)Gga>Aga		polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa							276.0	243.0	254.0					20																	18462374		2203	4300	6503	SO:0001583	missense	10621				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr20:18462374G>A	U93869	CCDS13135.1	20p11.23	2013-01-21	2002-08-29		ENSG00000132664	ENSG00000132664		"""RNA polymerase subunits"""	15763	protein-coding gene	gene with protein product	"""RNA polymerase III C39 subunit"""		"""polymerase (RNA) III (DNA directed) polypeptide F (39 kDa)"""			9171375	Standard	NM_006466		Approved	RPC39, RPC6	uc002wqv.3	Q9H1D9	OTTHUMG00000031971	ENST00000377603.4:c.793G>A	20.37:g.18462374G>A	ENSP00000366828:p.Gly265Arg					POLR3F_ENST00000462997.1_3'UTR	p.G265R	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN			8	1173	+			265	AKEGTVGSVDGHMKLYRAVNPIIPPTGLVRAPCGLC -> C KRRHSWQCRWTHETVQGSQSNHPSHRFGPGHPVDSA (in Ref. 1).				A8K4C7|O15319	Missense_Mutation	SNP	ENST00000377603.4	37	c.793G>A	CCDS13135.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907193	0.72868	.	.	ENSG00000132664	ENST00000377603	.	.	.	5.74	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.57242	0.2040	M	0.61703	1.905	0.80722	D	1	P	0.45634	0.863	P	0.44597	0.454	T	0.55237	-0.8172	9	0.16896	T	0.51	-26.9185	14.7433	0.69472	0.0691:0.0:0.9309:0.0	.	265	Q9H1D9	RPC6_HUMAN	R	265	.	ENSP00000366828:G265R	G	+	1	0	POLR3F	18410374	1.000000	0.71417	0.940000	0.37924	0.981000	0.71138	9.286000	0.95898	1.440000	0.47531	0.655000	0.94253	GGA		0.478	POLR3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078170.2	NM_006466		6	281	0	0	0	1	0	6	281				
PSMG2	56984	broad.mit.edu	37	18	12725487	12725487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr18:12725487G>A	ENST00000317615.6	+	7	1434	c.752G>A	c.(751-753)tGg>tAg	p.W251*	PSMG2_ENST00000585331.2_Nonsense_Mutation_p.W220*	NM_020232.4	NP_064617.2			proteasome (prosome, macropain) assembly chaperone 2											lung(1)|prostate(2)|skin(1)	4						CCAAGTTCTTGGAGATTACTC	0.373																																						ENST00000317615.6																			0				lung(1)|prostate(2)|skin(1)	4						c.(751-753)tGg>tAg		proteasome (prosome, macropain) assembly chaperone 2							147.0	149.0	149.0					18																	12725487		2203	4300	6503	SO:0001587	stop_gained	56984				proteasome assembly	nucleus	protein binding	g.chr18:12725487G>A	AF276707	CCDS11862.1, CCDS67440.1	18p11.21	2012-01-25	2007-10-23	2007-10-23	ENSG00000128789	ENSG00000128789			24929	protein-coding gene	gene with protein product	"""hepatocellular carcinoma susceptibility protein"", ""CD40 ligand-activated specific transcript 3"""	609702	"""tumor necrosis factor superfamily, member 5-induced protein 1"""	TNFSF5IP1		11854909, 12147697, 17189198	Standard	NM_147163		Approved	HCCA3, MDS003, MGC15092, CLAST3, HsT1707, PAC2	uc002krk.3	Q969U7	OTTHUMG00000131703	ENST00000317615.6:c.752G>A	18.37:g.12725487G>A	ENSP00000325919:p.Trp251*					RP11-973H7.2_ENST00000585331.1_RNA	p.W251*	NM_020232.4|NM_147163.1	NP_064617.2|NP_671692.1	Q969U7	PSMG2_HUMAN			7	1434	+			251						Nonsense_Mutation	SNP	ENST00000317615.6	37	c.752G>A	CCDS11862.1	.	.	.	.	.	.	.	.	.	.	G	42	9.520074	0.99193	.	.	ENSG00000128789	ENST00000317615	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2029	19.4842	0.95022	0.0:0.0:1.0:0.0	.	.	.	.	X	251	.	ENSP00000325919:W251X	W	+	2	0	PSMG2	12715487	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.354000	0.79424	2.777000	0.95525	0.591000	0.81541	TGG		0.373	PSMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254615.1	NM_020232		18	84	0	0	0	1	0	18	84				
NR6A1	2649	broad.mit.edu	37	9	127300415	127300415	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr9:127300415G>A	ENST00000487099.2	-	6	937	c.780C>T	c.(778-780)gcC>gcT	p.A260A	NR6A1_ENST00000373584.3_Silent_p.A256A|NR6A1_ENST00000344523.4_Silent_p.A259A|NR6A1_ENST00000416460.2_Silent_p.A255A	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	260					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CCAGGTCCTCGGCTGATAACA	0.557																																					Esophageal Squamous(192;272 2884 6208 20560)	ENST00000487099.2																			0				NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						c.(778-780)gcC>gcT		nuclear receptor subfamily 6, group A, member 1							116.0	105.0	109.0					9																	127300415		2203	4300	6503	SO:0001819	synonymous_variant	2649				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:127300415G>A	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.780C>T	9.37:g.127300415G>A						NR6A1_ENST00000416460.2_Silent_p.A255A|NR6A1_ENST00000344523.4_Silent_p.A259A|NR6A1_ENST00000373584.3_Silent_p.A256A	p.A260A	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN			6	937	-			260					O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Silent	SNP	ENST00000487099.2	37	c.780C>T	CCDS35137.1																																																																																				0.557	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4			10	58	0	0	0	1	0	10	58				
RB1	5925	broad.mit.edu	37	13	48916759	48916759	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr13:48916759G>T	ENST00000267163.4	+	3	427	c.289G>T	c.(289-291)Gaa>Taa	p.E97*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	97					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(5)|p.E97fs*14(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAAGAAAAAGGAACTGTGGGG	0.313		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		22	Whole gene deletion(15)|Unknown(5)|Deletion - Frameshift(2)	p.0?(15)|p.?(5)|p.E97fs*14(2)	bone(10)|breast(6)|prostate(2)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(289-291)Gaa>Taa		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						84.0	95.0	91.0					13																	48916759		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48916759G>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.289G>T	13.37:g.48916759G>T	ENSP00000267163:p.Glu97*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.E97*	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	3	427	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	97					A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.289G>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	33	5.258975	0.95368	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.39	3.62	0.41486	.	0.366565	0.31747	N	0.007126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	7.6242	0.28202	0.089:0.1658:0.7452:0.0	.	.	.	.	X	76;97	.	ENSP00000267163:E97X	E	+	1	0	RB1	47814760	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	1.761000	0.38440	0.718000	0.32166	0.603000	0.83216	GAA		0.313	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			9	46	1	0	3.09899e-07	1	3.22811e-07	9	46				
CLLU1OS	574016	broad.mit.edu	37	12	92821902	92821902	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr12:92821902G>A	ENST00000378487.2	-	1	22	c.21C>T	c.(19-21)aaC>aaT	p.N7N	CLLU1OS_ENST00000538965.1_Silent_p.N7N|RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000378485.1_Intron|CLLU1_ENST00000472839.2_Intron	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	7								p.N7K(1)		large_intestine(1)|lung(7)	8						ccttaagttcgttgtgcccca	0.423																																						ENST00000378487.2																			1	Substitution - Missense(1)	p.N7K(1)	lung(1)	large_intestine(1)|lung(7)	8						c.(19-21)aaC>aaT		chronic lymphocytic leukemia up-regulated 1 opposite strand							240.0	200.0	214.0					12																	92821902		2203	4300	6503	SO:0001819	synonymous_variant	574016							g.chr12:92821902G>A	AJ845168	CCDS31871.1	12q22	2006-03-30	2006-03-30		ENSG00000205057	ENSG00000205057			24070	protein-coding gene	gene with protein product			"""chronic lymphocytic leukemia up-regulated 1 overlapping strand"""				Standard	NM_001025232		Approved		uc001tcb.1	Q5K130	OTTHUMG00000161990	ENST00000378487.2:c.21C>T	12.37:g.92821902G>A						RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000378485.1_Intron|CLLU1OS_ENST00000538965.1_Silent_p.N7N|CLLU1_ENST00000472839.2_Intron	p.N7N	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN			1	22	-			7						Silent	SNP	ENST00000378487.2	37	c.21C>T	CCDS31871.1																																																																																				0.423	CLLU1OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366646.1			6	36	0	0	0	1	0	6	36				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			0							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		6	44	0	0	0	1	0	6	44				
C19orf57	79173	broad.mit.edu	37	19	14000258	14000258	+	Missense_Mutation	SNP	C	C	T	rs527426427	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr19:14000258C>T	ENST00000586783.1	-	5	1410	c.1411G>A	c.(1411-1413)Gag>Aag	p.E471K	C19orf57_ENST00000346736.2_Missense_Mutation_p.E471K|C19orf57_ENST00000454313.1_Missense_Mutation_p.E471K|C19orf57_ENST00000591586.1_Intron			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	471					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CGGAACCCCTCGAGGTCTCGT	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		16938	0.002		0.0	False		,,,				2504	0.0					ENST00000454313.1																			0				breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1411-1413)Gag>Aag		chromosome 19 open reading frame 57							63.0	66.0	65.0					19																	14000258		2203	4300	6503	SO:0001583	missense	79173				multicellular organismal development		protein binding	g.chr19:14000258C>T	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1411G>A	19.37:g.14000258C>T	ENSP00000465822:p.Glu471Lys					C19orf57_ENST00000586783.1_Missense_Mutation_p.E471K|C19orf57_ENST00000346736.2_Missense_Mutation_p.E471K|C19orf57_ENST00000591586.1_Intron	p.E471K			Q0VDD7	CS057_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		6	1469	-			471					Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	ENST00000586783.1	37	c.1411G>A		.	.	.	.	.	.	.	.	.	.	C	15.55	2.865741	0.51588	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.38887	1.11;1.11	4.69	-7.58	0.01313	.	2.277220	0.01710	N	0.027661	T	0.16171	0.0389	N	0.14661	0.345	0.09310	N	1	B;B	0.32051	0.354;0.354	B;B	0.26094	0.037;0.066	T	0.20273	-1.0280	10	0.07990	T	0.79	0.9965	1.7373	0.02944	0.122:0.2101:0.2398:0.4281	.	471;471	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	K	471	ENSP00000404382:E471K;ENSP00000254336:E471K	ENSP00000254336:E471K	E	-	1	0	C19orf57	13861258	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.637000	0.02015	-1.368000	0.02149	-0.377000	0.06932	GAG		0.597	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1	NM_024323		20	123	0	0	0	1	0	20	123				
PTEN	5728	broad.mit.edu	37	10	89653815	89653815	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr10:89653815C>T	ENST00000371953.3	+	2	1470	c.113C>T	c.(112-114)cCt>cTt	p.P38L		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	38	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.P38R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATGGGATTTCCTGCAGAAAGA	0.289		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		48	Whole gene deletion(37)|Unknown(8)|Deletion - Frameshift(2)|Substitution - Missense(1)	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.P38R(1)	prostate(14)|central_nervous_system(8)|skin(8)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|NS(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(112-114)cCt>cTt		phosphatase and tensin homolog							112.0	112.0	112.0					10																	89653815		2203	4296	6499	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89653815C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.113C>T	10.37:g.89653815C>T	ENSP00000361021:p.Pro38Leu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.P38L	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	2	1470	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	38			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.113C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172487	0.94807	.	.	ENSG00000171862	ENST00000371953	D	0.99319	-5.74	5.19	5.19	0.71726	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.99612	0.9859	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97781	1.0232	9	.	.	.	-4.7744	17.4682	0.87639	0.0:1.0:0.0:0.0	.	38	P60484	PTEN_HUMAN	L	38	ENSP00000361021:P38L	.	P	+	2	0	PTEN	89643795	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.457000	0.66672	2.421000	0.82119	0.655000	0.94253	CCT		0.289	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		7	55	0	0	0	1	0	7	55				
PRR27	401137	broad.mit.edu	37	4	71021774	71021774	+	Missense_Mutation	SNP	C	C	T	rs577881430	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr4:71021774C>T	ENST00000344526.5	+	2	244	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	C4orf40_ENST00000502294.1_Missense_Mutation_p.R19W|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		19						extracellular vesicular exosome (GO:0070062)		p.R19W(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ATTTTAGAGACGGTTCCCCTT	0.259													C|||	2	0.000399361	0.0	0.0	5008	,	,		14117	0.0		0.0	False		,,,				2504	0.002					ENST00000344526.5																			1	Substitution - Missense(1)	p.R19W(1)	breast(1)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(55-57)Cgg>Tgg		chromosome 4 open reading frame 40							36.0	38.0	37.0					4																	71021774		2197	4277	6474	SO:0001583	missense	401137					extracellular region		g.chr4:71021774C>T																												ENST00000344526.5:c.55C>T	4.37:g.71021774C>T	ENSP00000343172:p.Arg19Trp					C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.R19W	p.R19W	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN			2	244	+			19					A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	c.55C>T	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118357	0.37339	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.53857	0.6;0.6	3.32	0.36	0.16097	.	.	.	.	.	T	0.49864	0.1582	N	0.14661	0.345	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.37478	-0.9704	9	0.72032	D	0.01	-1.7275	5.6024	0.17361	0.0:0.5813:0.0:0.4187	.	19	Q6MZM9	CD040_HUMAN	W	19	ENSP00000426249:R19W;ENSP00000343172:R19W	ENSP00000343172:R19W	R	+	1	2	C4orf40	71056363	0.006000	0.16342	0.004000	0.12327	0.030000	0.12068	-0.174000	0.09839	0.032000	0.15435	0.603000	0.83216	CGG		0.259	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			6	27	0	0	0	1	0	6	27				
BMS1P20	96610	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T	rs376271028		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1				BMS1 pseudogene 20																		TGTTTAATTCAGCCTTGGAAG	0.413																																						ENST00000426066.1																			0																																																			0							g.chr22:22664115A>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664115A>T								NR_027293.1						0	638	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.413	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	69	0	0	0	1	0	4	69				
SOWAHD	347454	broad.mit.edu	37	X	118893526	118893526	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chrX:118893526C>T	ENST00000343905.3	+	1	951	c.896C>T	c.(895-897)gCg>gTg	p.A299V		NM_001105576.2	NP_001099046.1	A6NJG2	SWAHD_HUMAN	sosondowah ankyrin repeat domain family member D	299																	AGCCGGGTGGCGCAAATGCAT	0.647																																						ENST00000343905.3																			0											c.(895-897)gCg>gTg		sosondowah ankyrin repeat domain family member D							15.0	19.0	17.0					X																	118893526		2129	4144	6273	SO:0001583	missense	347454							g.chrX:118893526C>T		CCDS43984.1	Xq24	2013-01-10	2012-01-12	2012-01-12	ENSG00000187808	ENSG00000187808		"""Ankyrin repeat domain containing"""	32960	protein-coding gene	gene with protein product			"""ankyrin repeat domain 58"""	ANKRD58		22234889	Standard	NM_001105576		Approved		uc010nql.3	A6NJG2	OTTHUMG00000159606	ENST00000343905.3:c.896C>T	X.37:g.118893526C>T	ENSP00000340975:p.Ala299Val						p.A299V	NM_001105576.2	NP_001099046.1	A6NJG2	ANR58_HUMAN			1	951	+			299						Missense_Mutation	SNP	ENST00000343905.3	37	c.896C>T	CCDS43984.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437914	0.43326	.	.	ENSG00000187808	ENST00000343905	T	0.15952	2.38	4.37	2.48	0.30137	.	.	.	.	.	T	0.09818	0.0241	L	0.40543	1.245	0.09310	N	1	P	0.49635	0.926	B	0.28916	0.096	T	0.23904	-1.0175	9	0.52906	T	0.07	-4.1397	6.4669	0.21987	0.0:0.7043:0.1861:0.1096	.	299	A6NJG2	ANR58_HUMAN	V	299	ENSP00000340975:A299V	ENSP00000340975:A299V	A	+	2	0	ANKRD58	118777554	0.000000	0.05858	0.002000	0.10522	0.042000	0.13812	-0.071000	0.11505	0.831000	0.34780	0.436000	0.28706	GCG		0.647	SOWAHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356469.1	NM_001105576		7	25	0	0	0	1	0	7	25				
SPCS2	9789	broad.mit.edu	37	11	74687936	74687936	+	Missense_Mutation	SNP	A	A	G	rs573769844		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr11:74687936A>G	ENST00000263672.6	+	5	568	c.529A>G	c.(529-531)Atc>Gtc	p.I177V	SPCS2_ENST00000528265.1_Intron|SPCS2_ENST00000530257.1_Missense_Mutation_p.I108V|SPCS2_ENST00000526361.1_Missense_Mutation_p.I38V	NM_014752.2	NP_055567.2	Q15005	SPCS2_HUMAN	signal peptidase complex subunit 2 homolog (S. cerevisiae)	177					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			breast(1)	1						GCTGACCTTCATCAGTGGGAG	0.443													A|||	1	0.000199681	0.0	0.0	5008	,	,		18514	0.0		0.001	False		,,,				2504	0.0					ENST00000263672.6																			0				breast(1)	1						c.(529-531)Atc>Gtc		signal peptidase complex subunit 2 homolog (S. cerevisiae)							64.0	63.0	63.0					11																	74687936		1871	4082	5953	SO:0001583	missense	9789				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity	g.chr11:74687936A>G	D14658	CCDS44681.1	11q13.4	2008-02-05			ENSG00000118363	ENSG00000118363			28962	protein-coding gene	gene with protein product						7788527	Standard	NM_014752		Approved	KIAA0102	uc001ovu.2	Q15005	OTTHUMG00000165517	ENST00000263672.6:c.529A>G	11.37:g.74687936A>G	ENSP00000263672:p.Ile177Val					SPCS2_ENST00000528265.1_Intron|SPCS2_ENST00000526361.1_Missense_Mutation_p.I38V|SPCS2_ENST00000530257.1_Missense_Mutation_p.I108V	p.I177V	NM_014752.2	NP_055567.2	Q15005	SPCS2_HUMAN			5	568	+			177					Q15507|Q3KQT0|Q641R4|Q6FG65|Q6IRX0|Q6P1P4|Q96HU9	Missense_Mutation	SNP	ENST00000263672.6	37	c.529A>G	CCDS44681.1	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559206	0.45590	.	.	ENSG00000118363	ENST00000263672;ENST00000530257;ENST00000526361;ENST00000532972	.	.	.	5.36	5.36	0.76844	.	0.094859	0.64402	D	0.000001	T	0.55114	0.1900	L	0.55481	1.735	0.42961	D	0.994408	B	0.29766	0.256	B	0.27796	0.083	T	0.52859	-0.8519	9	0.19147	T	0.46	-11.8415	13.5927	0.61969	1.0:0.0:0.0:0.0	.	177	Q15005	SPCS2_HUMAN	V	177;108;38;208	.	ENSP00000263672:I177V	I	+	1	0	SPCS2	74365584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.231000	0.65327	2.157000	0.67596	0.533000	0.62120	ATC		0.443	SPCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384587.1	NM_014752		15	82	0	0	0	1	0	15	82				
CSF2RA	1438	broad.mit.edu	37	X	1414328	1414328	+	Missense_Mutation	SNP	G	G	C			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chrX:1414328G>C	ENST00000381524.3	+	9	975	c.789G>C	c.(787-789)caG>caC	p.Q263H	CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000501036.2_Missense_Mutation_p.Q130H|CSF2RA_ENST00000381500.1_Missense_Mutation_p.Q263H|CSF2RA_ENST00000381509.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000417535.2_Missense_Mutation_p.Q263H|CSF2RA_ENST00000432318.2_Missense_Mutation_p.Q263H|CSF2RA_ENST00000361536.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355805.2_Intron|BX649553.1_ENST00000583047.1_RNA|CSF2RA_ENST00000355432.3_Missense_Mutation_p.Q263H|MIR3690_ENST00000580266.1_RNA|BX649553.2_ENST00000578699.1_RNA			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	263	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	AGAATACCCAGCCTGGCACGG	0.483																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3																			0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45						c.(787-789)caG>caC		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						643.0	609.0	620.0					X																	1414328		2203	4296	6499	SO:0001583	missense	0					extracellular region|integral to plasma membrane	cytokine receptor activity	g.chrX:1414328G>C	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.789G>C	X.37:g.1414328G>C	ENSP00000370935:p.Gln263His					CSF2RA_ENST00000417535.2_Missense_Mutation_p.Q263H|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381509.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000432318.2_Missense_Mutation_p.Q263H|CSF2RA_ENST00000501036.2_Missense_Mutation_p.Q130H|CSF2RA_ENST00000355432.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000381500.1_Missense_Mutation_p.Q263H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000361536.3_Missense_Mutation_p.Q263H	p.Q263H			P15509	CSF2R_HUMAN			9	975	+		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)	263					A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	c.789G>C	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	0.924	-0.714788	0.03206	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;T;D;D	0.96041	-3.89;-3.89;-3.39;-3.36;-3.89;-3.89;1.13;-3.89;-3.39	0.474	-0.948	0.10379	Fibronectin, type III (2);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92034	0.7476	.	.	.	0.09310	N	1	P;P;P;P;P	0.50272	0.933;0.89;0.845;0.845;0.759	B;B;B;P;B	0.46299	0.199;0.403;0.108;0.511;0.314	D	0.84372	0.0544	7	0.38643	T	0.18	.	.	.	.	.	263;263;263;263;263	P15509-2;A7J003;P15509-3;P15509-5;P15509	.;.;.;.;CSF2R_HUMAN	H	263;263;263;263;130;263;263;263;263;263	ENSP00000370940:Q263H;ENSP00000416437:Q263H;ENSP00000354836:Q263H;ENSP00000440491:Q130H;ENSP00000370935:Q263H;ENSP00000370920:Q263H;ENSP00000347606:Q263H;ENSP00000394227:Q263H;ENSP00000370911:Q263H	ENSP00000347606:Q263H	Q	+	3	2	CSF2RA	1374328	0.000000	0.05858	0.000000	0.03702	0.324000	0.28378	-0.886000	0.04157	-0.633000	0.05545	0.100000	0.15512	CAG		0.483	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2			54	225	0	0	0	1	0	54	225				
PCDHB11	56125	broad.mit.edu	37	5	140581324	140581324	+	Missense_Mutation	SNP	A	A	C	rs140763995	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr5:140581324A>C	ENST00000354757.3	+	1	1977	c.1977A>C	c.(1975-1977)caA>caC	p.Q659H	PCDHB11_ENST00000536699.1_Missense_Mutation_p.Q294H	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	659	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q659H(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACGCTGCAAGTGCTCCTGG	0.711													a|||	20	0.00399361	0.0106	0.0	5008	,	,		13848	0.0		0.004	False		,,,				2504	0.002					ENST00000354757.3																			1	Substitution - Missense(1)	p.Q659H(1)	urinary_tract(1)	NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(1975-1977)caA>caC									29.0	32.0	31.0					5																	140581324		2156	4238	6394	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140581324A>C	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1977A>C	5.37:g.140581324A>C	ENSP00000346802:p.Gln659His					PCDHB11_ENST00000536699.1_Missense_Mutation_p.Q294H	p.Q659H	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1977	+			659			Cadherin 6.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.1977A>C	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	a	0.010	-1.793559	0.00623	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.52057	0.68;0.68	2.77	-3.81	0.04294	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.12135	0.0295	N	0.01091	-1.02	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30327	-0.9982	9	0.02654	T	1	.	4.9965	0.14242	0.1445:0.3472:0.0:0.5083	.	659	Q9Y5F2	PCDBB_HUMAN	H	294;659	ENSP00000440344:Q294H;ENSP00000346802:Q659H	ENSP00000346802:Q659H	Q	+	3	2	PCDHB11	140561508	0.000000	0.05858	0.859000	0.33776	0.627000	0.37826	-3.552000	0.00433	-0.668000	0.05296	-1.913000	0.00520	CAA		0.711	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		5	123	0	0	0	1	0	5	123				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			5	178	0	0	0	1	0	5	178				
WSCD1	23302	broad.mit.edu	37	17	6023654	6023654	+	Silent	SNP	C	C	T	rs369854579	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr17:6023654C>T	ENST00000574946.1	+	9	1791	c.1401C>T	c.(1399-1401)taC>taT	p.Y467Y	WSCD1_ENST00000573634.1_Silent_p.Y351Y|WSCD1_ENST00000317744.5_Silent_p.Y467Y|WSCD1_ENST00000539421.1_Silent_p.Y467Y|WSCD1_ENST00000574232.1_Silent_p.Y467Y			Q658N2	WSCD1_HUMAN	WSC domain containing 1	467						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.Y467Y(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TCAACAGCTACGCCTCGTGGT	0.677													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17657	0.0		0.0	False		,,,				2504	0.001					ENST00000574946.1																			1	Substitution - coding silent(1)	p.Y467Y(1)	endometrium(1)	breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						c.(1399-1401)taC>taT		WSC domain containing 1		C		1,4405	4.2+/-10.8	0,1,2202	137.0	131.0	133.0		1401	-9.7	0.1	17		133	0,8600		0,0,4300	no	coding-synonymous	WSCD1	NM_015253.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		467/576	6023654	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23302					integral to membrane	sulfotransferase activity	g.chr17:6023654C>T		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1401C>T	17.37:g.6023654C>T						WSCD1_ENST00000539421.1_Silent_p.Y467Y|WSCD1_ENST00000317744.5_Silent_p.Y467Y|WSCD1_ENST00000573634.1_Silent_p.Y351Y|WSCD1_ENST00000574232.1_Silent_p.Y467Y	p.Y467Y			Q658N2	WSCD1_HUMAN			9	1791	+			467					A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	ENST00000574946.1	37	c.1401C>T	CCDS32538.1																																																																																				0.677	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		42	229	0	0	0	1	0	42	229				
GRID1	2894	broad.mit.edu	37	10	87628820	87628820	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr10:87628820G>A	ENST00000327946.7	-	6	983	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	300					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GAGGAGATGCGGTGGTTGTTC	0.567										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(898-900)Cgc>Tgc		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						205.0	153.0	171.0					10																	87628820		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87628820G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.898C>T	10.37:g.87628820G>A	ENSP00000330148:p.Arg300Cys	Multiple Myeloma(13;0.14)					p.R300C	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			6	983	-			300					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.898C>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449921	0.84101	.	.	ENSG00000182771	ENST00000327946	D	0.86230	-2.09	5.58	5.58	0.84498	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91938	0.7447	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92327	0.5870	10	0.87932	D	0	.	13.5144	0.61533	0.0:0.0:0.8441:0.1559	.	300	Q9ULK0	GRID1_HUMAN	C	300	ENSP00000330148:R300C	ENSP00000330148:R300C	R	-	1	0	GRID1	87618800	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.527000	0.67123	2.617000	0.88574	0.563000	0.77884	CGC		0.567	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		14	93	0	0	0	1	0	14	93				
SOX8	30812	broad.mit.edu	37	16	1033825	1033825	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr16:1033825C>T	ENST00000293894.3	+	2	635	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	RP11-161M6.2_ENST00000565467.1_lincRNA	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	174					adipose tissue development (GO:0060612)|astrocyte fate commitment (GO:0060018)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|enteric nervous system development (GO:0048484)|fat cell differentiation (GO:0045444)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of gliogenesis (GO:0014015)|positive regulation of kidney development (GO:0090184)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone levels (GO:0010817)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|ureter morphogenesis (GO:0072197)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GTACCAGCCACGGCGCAGGAA	0.677																																						ENST00000293894.3																			0				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10						c.(520-522)Cgg>Tgg		SRY (sex determining region Y)-box 8							44.0	42.0	43.0					16																	1033825		2198	4298	6496	SO:0001583	missense	30812				adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus		g.chr16:1033825C>T	AF164104	CCDS10428.1	16p13.3	2008-05-23			ENSG00000005513	ENSG00000005513		"""SRY (sex determining region Y)-boxes"""	11203	protein-coding gene	gene with protein product		605923				10662550, 10684944	Standard	NM_014587		Approved		uc002ckn.3	P57073	OTTHUMG00000122101	ENST00000293894.3:c.520C>T	16.37:g.1033825C>T	ENSP00000293894:p.Arg174Trp						p.R174W	NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN			2	635	+		Hepatocellular(780;0.00308)	174					Q9NZW2	Missense_Mutation	SNP	ENST00000293894.3	37	c.520C>T	CCDS10428.1	.	.	.	.	.	.	.	.	.	.	C	33	5.264534	0.95399	.	.	ENSG00000005513	ENST00000293894	D	0.94723	-3.5	4.77	2.64	0.31445	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (1);	0.060393	0.64402	D	0.000003	D	0.97514	0.9186	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97340	0.9956	10	0.87932	D	0	.	12.2135	0.54394	0.3208:0.6792:0.0:0.0	.	174	P57073	SOX8_HUMAN	W	174	ENSP00000293894:R174W	ENSP00000293894:R174W	R	+	1	2	SOX8	973826	0.997000	0.39634	0.007000	0.13788	0.726000	0.41606	3.705000	0.54823	0.435000	0.26365	0.655000	0.94253	CGG		0.677	SOX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242867.1			10	55	0	0	0	1	0	10	55				
RPS2	6187	broad.mit.edu	37	16	2013186	2013186	+	Missense_Mutation	SNP	C	C	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr16:2013186C>A	ENST00000343262.4	-	4	395	c.339G>T	c.(337-339)caG>caT	p.Q113H	SNORA64_ENST00000384674.1_RNA|RPS2_ENST00000529806.1_Missense_Mutation_p.Q83H|RPS2_ENST00000526522.1_Missense_Mutation_p.Q113H|RPS2_ENST00000530225.1_Missense_Mutation_p.Q113H|SNHG9_ENST00000459373.1_lincRNA|SNORA10_ENST00000384084.1_RNA	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	113	S5 DRBM. {ECO:0000255|PROSITE- ProRule:PRU00268}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of transferase activity (GO:0051347)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGGTCTGCTTCTGCACTGGCA	0.547																																						ENST00000529806.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						c.(247-249)caG>caT		ribosomal protein S2							8.0	11.0	10.0					16																	2013186		2193	4289	6482	SO:0001583	missense	6187				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome	g.chr16:2013186C>A	AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"""S ribosomal proteins"""	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.339G>T	16.37:g.2013186C>A	ENSP00000341885:p.Gln113His					RPS2_ENST00000343262.4_Missense_Mutation_p.Q113H|RPS2_ENST00000530225.1_Missense_Mutation_p.Q113H|RPS2_ENST00000526522.1_Missense_Mutation_p.Q113H	p.Q83H			P15880	RS2_HUMAN			2	435	-			113					B2R5G0|D3DU82|Q3MIB1	Missense_Mutation	SNP	ENST00000343262.4	37	c.249G>T	CCDS10452.1	.	.	.	.	.	.	.	.	.	.	c	10.57	1.387523	0.25031	.	.	ENSG00000140988	ENST00000526522;ENST00000530225;ENST00000343262;ENST00000529806;ENST00000527302	.	.	.	3.91	0.751	0.18392	Ribosomal protein S5, N-terminal (2);Double-stranded RNA-binding-like (1);	0.000000	0.64402	U	0.000002	T	0.77870	0.4195	H	0.97564	4.03	0.80722	D	1	P;P	0.46784	0.884;0.862	P;P	0.49853	0.624;0.5	T	0.80130	-0.1511	9	0.87932	D	0	.	9.4688	0.38829	0.0:0.7953:0.0:0.2047	.	113;113	P15880;E9PQD7	RS2_HUMAN;.	H	113;113;113;83;113	.	ENSP00000341885:Q113H	Q	-	3	2	RPS2	1953187	0.998000	0.40836	0.999000	0.59377	0.684000	0.39900	0.635000	0.24629	-0.002000	0.14469	-0.411000	0.06167	CAG		0.547	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250613.2	NM_002952		3	5	1	0	1	1	1	3	5				
FLNA	2316	broad.mit.edu	37	X	153592412	153592412	+	Missense_Mutation	SNP	C	C	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chrX:153592412C>G	ENST00000369850.3	-	15	2494	c.2258G>C	c.(2257-2259)aGc>aCc	p.S753T	FLNA_ENST00000422373.1_Missense_Mutation_p.S753T|FLNA_ENST00000360319.4_Missense_Mutation_p.S753T|FLNA_ENST00000344736.4_Missense_Mutation_p.S753T	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	753					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)					GTTGGGGATGCTGACGCCTCC	0.577																																						ENST00000422373.1																			0				breast(6)	6						c.(2257-2259)aGc>aCc		filamin A, alpha							85.0	92.0	90.0					X																	153592412		2092	4184	6276	SO:0001583	missense	0				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:153592412C>G	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.2258G>C	X.37:g.153592412C>G	ENSP00000358866:p.Ser753Thr					FLNA_ENST00000360319.4_Missense_Mutation_p.S753T|FLNA_ENST00000344736.4_Missense_Mutation_p.S753T|FLNA_ENST00000369850.3_Missense_Mutation_p.S753T	p.S753T	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			15	2506	-	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)		753					E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.2258G>C	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015536	0.54468	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	4.95	2.87	0.33458	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.122206	0.50627	D	0.000112	T	0.57460	0.2055	L	0.39898	1.24	0.80722	D	1	B;B	0.28880	0.226;0.004	B;B	0.31946	0.138;0.024	T	0.55289	-0.8164	10	0.54805	T	0.06	.	4.3808	0.11293	0.0:0.3888:0.0:0.6112	.	753;753	P21333-2;P21333	.;FLNA_HUMAN	T	753;726;753;753;753	ENSP00000353467:S753T;ENSP00000416926:S753T;ENSP00000358866:S753T;ENSP00000358863:S753T	ENSP00000358863:S753T	S	-	2	0	FLNA	153245606	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.402000	0.34600	0.884000	0.36064	0.525000	0.51046	AGC		0.577	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			40	147	0	0	0	1	0	40	147				
FUT1	2523	broad.mit.edu	37	19	49253880	49253880	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr19:49253880C>T	ENST00000310160.3	-	4	1633	c.659G>A	c.(658-660)cGc>cAc	p.R220H	FUT1_ENST00000601931.1_5'Flank	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	220					carbohydrate metabolic process (GO:0005975)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GTCCCCACGGCGCACGTGGAC	0.692																																						ENST00000310160.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17	GRCh37	CM004475	FUT1	M		c.(658-660)cGc>cAc		fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)							70.0	69.0	69.0					19																	49253880		2203	4299	6502	SO:0001583	missense	2523				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity	g.chr19:49253880C>T		CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2.4.1.69	"""Blood group antigens"", ""Fucosyltransferases"""	4012	protein-coding gene	gene with protein product		211100	"""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included)"", ""fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)"""	H, HSC			Standard	NM_000148		Approved		uc002pkk.3	P19526		ENST00000310160.3:c.659G>A	19.37:g.49253880C>T	ENSP00000312021:p.Arg220His						p.R220H	NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)	4	1633	-		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	220					O14505|O14506|O14507	Missense_Mutation	SNP	ENST00000310160.3	37	c.659G>A	CCDS12733.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629536	0.87660	.	.	ENSG00000174951	ENST00000310160;ENST00000539428	D	0.98978	-5.29	4.43	4.43	0.53597	.	0.000000	0.53938	D	0.000048	D	0.99318	0.9761	M	0.89214	3.015	0.46521	D	0.999089	D	0.89917	1.0	D	0.87578	0.998	D	0.98660	1.0683	10	0.87932	D	0	-15.7467	14.9385	0.70975	0.0:1.0:0.0:0.0	.	220	P19526	FUT1_HUMAN	H	220;210	ENSP00000312021:R220H	ENSP00000312021:R220H	R	-	2	0	FUT1	53945692	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.568000	0.60857	2.479000	0.83701	0.563000	0.77884	CGC		0.692	FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466194.1	NM_000148		32	171	0	0	0	1	0	32	171				
PCSK5	5125	broad.mit.edu	37	9	78790136	78790136	+	Intron	SNP	T	T	C	rs62556589		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr9:78790136T>C	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Missense_Mutation_p.M664T	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						tggaatggaatgaaatggaat	0.423																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1990-1992)aTg>aCg		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790136T>C		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+91T>C	9.37:g.78790136T>C						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.M664T			Q92824	PCSK5_HUMAN			14	2503	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1991T>C	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.632416	0.00806	.	.	ENSG00000099139	ENST00000376767;ENST00000396108	T	0.72282	-0.64	.	.	.	.	.	.	.	.	T	0.50514	0.1620	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.30001	-0.9993	6	0.24483	T	0.36	.	.	.	.	rs62556589	664	B1AMG5	.	T	664	ENSP00000365958:M664T	ENSP00000365958:M664T	M	+	2	0	PCSK5	77979956	0.008000	0.16893	0.036000	0.18154	0.039000	0.13416	-0.019000	0.12546	0.228000	0.21019	0.225000	0.17782	ATG		0.423	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	29	0	0	0	1	0	3	29				
GLRX2	51022	broad.mit.edu	37	1	193070293	193070293	+	Missense_Mutation	SNP	G	G	T	rs535022976		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:193070293G>T	ENST00000367439.3	-	2	209	c.161C>A	c.(160-162)aCg>aAg	p.T54K	GLRX2_ENST00000472197.1_5'UTR|GLRX2_ENST00000367440.3_Missense_Mutation_p.T55K	NM_197962.2	NP_932066.1	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	54					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|DNA protection (GO:0042262)|glutathione metabolic process (GO:0006749)|protein folding (GO:0006457)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|response to hydrogen peroxide (GO:0042542)|response to organic substance (GO:0010033)|response to redox state (GO:0051775)|response to temperature stimulus (GO:0009266)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|arsenate reductase (glutaredoxin) activity (GO:0008794)|electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|metal ion binding (GO:0046872)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	CACAGGCGCCGTCGCTAAATT	0.343													G|||	1	0.000199681	0.0	0.0	5008	,	,		15490	0.0		0.0	False		,,,				2504	0.001					ENST00000367440.3																			0				breast(1)|large_intestine(1)|lung(3)	5						c.(163-165)aCg>aAg		glutaredoxin 2	Glutathione(DB00143)						75.0	73.0	73.0					1																	193070293		2203	4300	6503	SO:0001583	missense	51022				apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity	g.chr1:193070293G>T	AF132495	CCDS1380.1, CCDS1381.1	1q31.2	2012-09-20			ENSG00000023572	ENSG00000023572			16065	protein-coding gene	gene with protein product	"""bA101E13.1 (GRX2 glutaredoxin (thioltransferase) 2)"""	606820				11297543	Standard	NM_016066		Approved	GRX2, bA101E13.1	uc001gsz.2	Q9NS18	OTTHUMG00000035677	ENST00000367439.3:c.161C>A	1.37:g.193070293G>T	ENSP00000356409:p.Thr54Lys					GLRX2_ENST00000367439.3_Missense_Mutation_p.T54K|GLRX2_ENST00000472197.1_5'UTR	p.T55K	NM_001243399.1|NM_016066.4	NP_001230328.1|NP_057150.2	Q9NS18	GLRX2_HUMAN			2	639	-			54					Q3LR69|Q7L1N7|Q96JC0|Q9Y3D4	Missense_Mutation	SNP	ENST00000367439.3	37	c.164C>A	CCDS1381.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926818	0.34002	.	.	ENSG00000023572	ENST00000367439;ENST00000367440	T;T	0.32023	1.47;1.49	5.0	0.391	0.16282	.	0.993742	0.08190	N	0.984069	T	0.23846	0.0577	L	0.55481	1.735	0.09310	N	1	B;B	0.33120	0.398;0.191	B;B	0.29716	0.106;0.016	T	0.25012	-1.0144	10	0.19590	T	0.45	-0.0326	5.4364	0.16484	0.2659:0.0:0.5948:0.1393	.	55;54	Q9NS18-2;Q9NS18	.;GLRX2_HUMAN	K	54;55	ENSP00000356409:T54K;ENSP00000356410:T55K	ENSP00000356409:T54K	T	-	2	0	GLRX2	191336916	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.539000	0.06113	0.126000	0.18424	0.655000	0.94253	ACG		0.343	GLRX2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086699.1	NM_016066		6	50	1	0	3.59834e-05	1	3.64696e-05	6	50				
DNAH1	25981	broad.mit.edu	37	3	52395770	52395770	+	Silent	SNP	G	G	A	rs190849840		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr3:52395770G>A	ENST00000420323.2	+	30	5229	c.4968G>A	c.(4966-4968)gcG>gcA	p.A1656A	DNAH1_ENST00000466628.1_Intron	NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1656	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCAGAAGGCGCAGCAGCAGC	0.632																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(4966-4968)gcG>gcA		dynein, axonemal, heavy chain 1							27.0	32.0	30.0					3																	52395770		2184	4289	6473	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52395770G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4968G>A	3.37:g.52395770G>A						DNAH1_ENST00000466628.1_Intron	p.A1656A	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	30	5229	+			1656			AAA 1 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.4968G>A	CCDS46842.1																																																																																				0.632	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		3	24	0	0	0	1	0	3	24				
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18907	0.0		0.0	False		,,,				2504	0.0					ENST00000355349.3																			3	Substitution - coding silent(3)	p.S1335S(3)	central_nervous_system(2)|lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4003-4005)tcG>tcA		myosin, heavy chain 7, cardiac muscle, beta		C		9,4397	15.5+/-35.6	0,9,2194	35.0	34.0	34.0		4005	-9.9	0.2	14	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1335/1936	23887583	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887583C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4005G>A	14.37:g.23887583C>T							p.S1335S	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4167	-	all_cancers(95;2.54e-05)		1335					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4005G>A	CCDS9601.1																																																																																				0.662	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		4	81	0	0	0	1	0	4	81				
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs200299226	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				ERCC8_ENST00000426742.2_5'Flank|NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame|ERCC8_ENST00000265038.5_5'Flank|ERCC8_ENST00000543101.1_5'Flank	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2						negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)	mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632																																						ENST00000296597.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6								NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							29.0	29.0	29.0					5																	60241050		2203	4300	6503			91942					membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:60241050G>A	AB183433	CCDS3979.1	5q12.1	2012-10-12	2012-05-08	2008-02-15	ENSG00000164182	ENSG00000164182		"""Mitochondrial respiratory chain complex assembly factors"""	28086	protein-coding gene	gene with protein product	"""Myc-induced mitochondrial protein"""	609653	"""NDUFA12-like"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2"""	NDUFA12L		15774466, 16200211, 17383918	Standard	NM_174889		Approved	B17.2L, MMTN, mimitin	uc003jsp.4	Q8N183	OTTHUMG00000131221	ENST00000296597.5:c.-33G>A	5.37:g.60241050G>A						NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame		NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN			0	95	+		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)						A8K5I1	Translation_Start_Site	SNP	ENST00000296597.5	37		CCDS3979.1																																																																																				0.632	NDUFAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253965.1	NM_174889		3	28	0	0	0	1	0	3	28				
GIGYF1	64599	broad.mit.edu	37	7	100281657	100281657	+	Silent	SNP	C	C	T	rs372300780		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:100281657C>T	ENST00000275732.5	-	15	3063	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	618					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGGTTTGAGCGCCTGGAGCT	0.657																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1852-1854)gcG>gcA		GRB10 interacting GYF protein 1		C		0,4396		0,0,2198	15.0	18.0	17.0		1854	2.1	1.0	7		17	1,8589		0,1,4294	no	coding-synonymous	GIGYF1	NM_022574.4		0,1,6492	TT,TC,CC		0.0116,0.0,0.0077		618/1036	100281657	1,12985	2198	4295	6493	SO:0001819	synonymous_variant	64599							g.chr7:100281657C>T	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1854G>A	7.37:g.100281657C>T							p.A618A	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			15	3063	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		618					Q6Y7W7|Q8WZ38	Silent	SNP	ENST00000275732.5	37	c.1854G>A	CCDS34708.1																																																																																				0.657	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		5	30	0	0	0	1	0	5	30				
PTEN	5728	broad.mit.edu	37	10	89692792	89692792	+	Missense_Mutation	SNP	C	C	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr10:89692792C>A	ENST00000371953.3	+	5	1633	c.276C>A	c.(274-276)gaC>gaA	p.D92E		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	92	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.D92E(2)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTGAAGACCATAACCCAC	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		54	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Missense(2)|Deletion - In frame(2)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.D92E(2)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(12)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM033666	PTEN	M		c.(274-276)gaC>gaA		phosphatase and tensin homolog							112.0	102.0	105.0					10																	89692792		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692792C>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.276C>A	10.37:g.89692792C>A	ENSP00000361021:p.Asp92Glu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.D92E	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1633	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	92			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.276C>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047615	0.75846	.	.	ENSG00000171862	ENST00000371953	D	0.99422	-5.88	5.07	1.09	0.20402	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99764	1.1022	9	.	.	.	-9.7034	9.9879	0.41852	0.0:0.7188:0.0:0.2812	.	92	P60484	PTEN_HUMAN	E	92	ENSP00000361021:D92E	.	D	+	3	2	PTEN	89682772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.304000	0.43655	0.169000	0.19679	0.655000	0.94253	GAC		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		29	68	1	0	1.5548e-18	1	1.66586e-18	29	68				
CR1	1378	broad.mit.edu	37	1	207790017	207790017	+	Silent	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:207790017C>T	ENST00000367049.4	+	41	6759	c.6759C>T	c.(6757-6759)tgC>tgT	p.C2253C	CR1_ENST00000367053.1_Silent_p.C1803C|CR1_ENST00000367051.1_Silent_p.C1803C|CR1_ENST00000400960.2_Silent_p.C1803C|CR1_ENST00000367052.1_Silent_p.C1803C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1803					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTACGCATGCGACACCCACC	0.498																																						ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6757-6759)tgC>tgT		complement component (3b/4b) receptor 1 (Knops blood group)							142.0	137.0	139.0					1																	207790017		1924	4129	6053	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207790017C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6759C>T	1.37:g.207790017C>T						CR1_ENST00000367051.1_Silent_p.C1803C|CR1_ENST00000367052.1_Silent_p.C1803C|CR1_ENST00000367053.1_Silent_p.C1803C|CR1_ENST00000400960.2_Silent_p.C1803C	p.C2253C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			41	6759	+			1803					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.6759C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	0.030	-1.342195	0.01277	.	.	ENSG00000203710	ENST00000529814	.	.	.	4.15	-1.35	0.09114	.	.	.	.	.	T	0.31327	0.0793	.	.	.	0.20638	N	0.999873	.	.	.	.	.	.	T	0.33007	-0.9885	4	.	.	.	.	8.0389	0.30511	0.0:0.5164:0.0:0.4836	rs55775404	.	.	.	V	426	.	.	A	+	2	0	CR1	205856640	0.319000	0.24607	0.014000	0.15608	0.037000	0.13140	-0.190000	0.09615	-0.233000	0.09797	-0.320000	0.08662	GCG		0.498	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		82	139	0	0	0	1	0	82	139				
HECW1	23072	broad.mit.edu	37	7	43477687	43477687	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:43477687G>A	ENST00000395891.2	+	9	1492	c.887G>A	c.(886-888)cGc>cAc	p.R296H	HECW1_ENST00000453890.1_Missense_Mutation_p.R296H|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	296	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATCATCAAGCGCTTCTTGGGA	0.493																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(886-888)cGc>cAc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							91.0	96.0	94.0					7																	43477687		2026	4224	6250	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43477687G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.887G>A	7.37:g.43477687G>A	ENSP00000379228:p.Arg296His					HECW1_ENST00000453890.1_Missense_Mutation_p.R296H|HECW1_ENST00000471043.1_3'UTR	p.R296H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			9	1492	+			296			C2.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.887G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	36	5.945452	0.97134	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.69175	-0.38;-0.38	6.17	6.17	0.99709	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.047531	0.85682	D	0.000000	D	0.83271	0.5218	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.83111	-0.0123	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	296;328;296	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	H	296;296;295	ENSP00000379228:R296H;ENSP00000407774:R296H	ENSP00000265522:R295H	R	+	2	0	HECW1	43444212	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CGC		0.493	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		11	73	0	0	0	1	0	11	73				
KRT6A	3853	broad.mit.edu	37	12	52882314	52882314	+	Missense_Mutation	SNP	C	C	T	rs562064061		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr12:52882314C>T	ENST00000330722.6	-	7	1290	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	408	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCAATGGCGGCCTGCAGG	0.552																																						ENST00000330722.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(1222-1224)Gcc>Acc		keratin 6A							73.0	68.0	70.0					12																	52882314		2203	4300	6503	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52882314C>T	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1222G>A	12.37:g.52882314C>T	ENSP00000369317:p.Ala408Thr						p.A408T	NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1290	-			408			Coil 2.|Rod.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.1222G>A	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	c	18.49	3.635856	0.67130	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	T	0.77229	-1.08	5.15	3.23	0.37069	Filament (1);	0.326832	0.26069	N	0.026529	D	0.84570	0.5501	M	0.69358	2.11	0.36256	D	0.854235	D	0.71674	0.998	D	0.64321	0.924	D	0.87903	0.2692	10	0.72032	D	0.01	.	13.0089	0.58720	0.4242:0.5758:0.0:0.0	.	408	P02538	K2C6A_HUMAN	T	408;364	ENSP00000369317:A408T	ENSP00000369317:A408T	A	-	1	0	KRT6A	51168581	0.589000	0.26807	0.838000	0.33150	0.743000	0.42351	1.012000	0.29924	0.596000	0.29794	0.655000	0.94253	GCC		0.552	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		13	89	0	0	0	1	0	13	89				
SIN3A	25942	broad.mit.edu	37	15	75684736	75684736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr15:75684736G>A	ENST00000394947.3	-	15	3012	c.2698C>T	c.(2698-2700)Cag>Tag	p.Q900*	SIN3A_ENST00000360439.4_Nonsense_Mutation_p.Q900*|SIN3A_ENST00000394949.4_Nonsense_Mutation_p.Q900*	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CAGAGAATCTGGTGCAGTCGC	0.438																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(2698-2700)Cag>Tag		SIN3 transcription regulator family member A							135.0	132.0	133.0					15																	75684736		2197	4294	6491	SO:0001587	stop_gained	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75684736G>A	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2698C>T	15.37:g.75684736G>A	ENSP00000378402:p.Gln900*					SIN3A_ENST00000360439.4_Nonsense_Mutation_p.Q900*|SIN3A_ENST00000394949.4_Nonsense_Mutation_p.Q900*	p.Q900*	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			15	3012	-			900						Nonsense_Mutation	SNP	ENST00000394947.3	37	c.2698C>T	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	42	9.527145	0.99196	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	.	.	.	5.6	5.6	0.85130	.	0.103363	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-19.5337	18.6178	0.91310	0.0:0.0:1.0:0.0	.	.	.	.	X	900	.	ENSP00000353622:Q900X	Q	-	1	0	SIN3A	73471789	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.829000	0.99411	2.644000	0.89710	0.655000	0.94253	CAG		0.438	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		23	74	0	0	0	1	0	23	74				
ABCA8	10351	broad.mit.edu	37	17	66873704	66873704	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr17:66873704G>A	ENST00000269080.2	-	31	4172	c.4035C>T	c.(4033-4035)gcC>gcT	p.A1345A	ABCA8_ENST00000430352.2_Silent_p.A1385A|ABCA8_ENST00000586539.1_Silent_p.A1385A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1345	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCCCTTTCACGGCGGCGTACA	0.617																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(4033-4035)gcC>gcT		ATP-binding cassette, sub-family A (ABC1), member 8							170.0	152.0	158.0					17																	66873704		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66873704G>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4035C>T	17.37:g.66873704G>A						ABCA8_ENST00000430352.2_Silent_p.A1385A|ABCA8_ENST00000586539.1_Silent_p.A1385A	p.A1345A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			31	4172	-	Breast(10;4.56e-13)		1345			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.4035C>T	CCDS11680.1																																																																																				0.617	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		40	226	0	0	0	1	0	40	226				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			7	28	0	0	0	1	0	7	28				
LGR5	8549	broad.mit.edu	37	12	71918242	71918242	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr12:71918242A>G	ENST00000266674.5	+	3	652	c.341A>G	c.(340-342)tAc>tGc	p.Y114C	LGR5_ENST00000540815.2_Missense_Mutation_p.Y114C|LGR5_ENST00000536515.1_Missense_Mutation_p.Y114C			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	114					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)		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						ACTGGCCTTTACAGTCTTAAA	0.418																																						ENST00000266674.5																		NUP107/LGR5(2)	0				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.(340-342)tAc>tGc		leucine-rich repeat containing G protein-coupled receptor 5							184.0	175.0	178.0					12																	71918242		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71918242A>G	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.341A>G	12.37:g.71918242A>G	ENSP00000266674:p.Tyr114Cys					LGR5_ENST00000536515.1_Missense_Mutation_p.Y114C|LGR5_ENST00000540815.2_Missense_Mutation_p.Y114C	p.Y114C			O75473	LGR5_HUMAN			3	652	+			114					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.341A>G	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.871013	0.51695	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.57436	0.4;0.4;0.4	5.41	2.97	0.34412	.	0.544265	0.17962	N	0.156148	T	0.30039	0.0752	N	0.20574	0.59	0.30415	N	0.778644	B;B	0.11235	0.003;0.004	B;B	0.15484	0.012;0.013	T	0.09952	-1.0651	10	0.39692	T	0.17	.	1.5263	0.02526	0.5291:0.131:0.0908:0.2491	.	114;114	O75473-2;O75473	.;LGR5_HUMAN	C	114	ENSP00000266674:Y114C;ENSP00000443033:Y114C;ENSP00000441035:Y114C	ENSP00000266674:Y114C	Y	+	2	0	LGR5	70204509	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.190000	0.42630	2.179000	0.69175	0.533000	0.62120	TAC		0.418	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		7	43	0	0	0	1	0	7	43				
DHCR7	1717	broad.mit.edu	37	11	71155948	71155948	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr11:71155948G>A	ENST00000355527.3	-	3	327	c.51C>T	c.(49-51)ggC>ggT	p.G17G	DHCR7_ENST00000407721.2_Silent_p.G17G	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	17					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)	p.G17G(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						CATTGGTGACGCCATCTAGAC	0.502									Smith-Lemli-Opitz syndrome																													ENST00000355527.3																			2	Substitution - coding silent(2)	p.G17G(2)	endometrium(2)	endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						c.(49-51)ggC>ggT		7-dehydrocholesterol reductase	NADH(DB00157)						309.0	243.0	266.0					11																	71155948		2200	4294	6494	SO:0001819	synonymous_variant	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71155948G>A	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.51C>T	11.37:g.71155948G>A						DHCR7_ENST00000407721.2_Silent_p.G17G	p.G17G	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN			3	327	-			17					B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	c.51C>T	CCDS8200.1																																																																																				0.502	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		23	126	0	0	0	1	0	23	126				
EML4	27436	broad.mit.edu	37	2	42522396	42522396	+	Missense_Mutation	SNP	T	T	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr2:42522396T>G	ENST00000318522.5	+	12	1612	c.1350T>G	c.(1348-1350)ttT>ttG	p.F450L	EML4_ENST00000402711.2_Missense_Mutation_p.F392L|EML4_ENST00000401738.3_Missense_Mutation_p.F461L	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	450					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGGGAATTTTTGGGGTAAGAA	0.328			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1348-1350)ttT>ttG		echinoderm microtubule associated protein like 4							88.0	91.0	90.0					2																	42522396		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42522396T>G	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1350T>G	2.37:g.42522396T>G	ENSP00000320663:p.Phe450Leu					EML4_ENST00000402711.2_Missense_Mutation_p.F392L|EML4_ENST00000401738.3_Missense_Mutation_p.F461L	p.F450L	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			12	1612	+			450					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.1350T>G	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095333	0.76870	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.41400	1.0;1.05;1.05	5.33	4.14	0.48551	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.60663	0.2286	M	0.66939	2.045	0.80722	D	1	D;D;D	0.71674	0.998;0.987;0.998	D;P;D	0.75484	0.96;0.886;0.986	T	0.62062	-0.6933	10	0.56958	D	0.05	-15.4129	12.5308	0.56113	0.0:0.0:0.1393:0.8607	.	392;461;450	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	L	450;392;461	ENSP00000320663:F450L;ENSP00000385059:F392L;ENSP00000384939:F461L	ENSP00000320663:F450L	F	+	3	2	EML4	42375900	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.751000	0.47508	0.934000	0.37316	0.533000	0.62120	TTT		0.328	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		10	54	0	0	0	1	0	10	54				
PRPF4	9128	broad.mit.edu	37	9	116049072	116049072	+	Missense_Mutation	SNP	C	C	T	rs575911571		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr9:116049072C>T	ENST00000374198.4	+	9	1001	c.899C>T	c.(898-900)gCg>gTg	p.A300V	PRPF4_ENST00000374199.4_Missense_Mutation_p.A299V	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	300					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GCCTCTTGTGCGGCTGATGGC	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		18454	0.0		0.001	False		,,,				2504	0.0					ENST00000374199.4																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						c.(895-897)gCg>gTg		pre-mRNA processing factor 4							353.0	352.0	353.0					9																	116049072		2203	4300	6503	SO:0001583	missense	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116049072C>T	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.899C>T	9.37:g.116049072C>T	ENSP00000363313:p.Ala300Val					PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V	p.A299V			O43172	PRP4_HUMAN			9	1297	+			300					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.896C>T	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163644	0.94727	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.61040	0.14;0.14	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.155793	0.56097	D	0.000025	T	0.72244	0.3436	L	0.56340	1.77	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.65140	0.932;0.849	T	0.73040	-0.4108	10	0.72032	D	0.01	.	19.0872	0.93209	0.0:1.0:0.0:0.0	.	315;300	Q59EL4;O43172	.;PRP4_HUMAN	V	299;300	ENSP00000363315:A299V;ENSP00000363313:A300V	ENSP00000363313:A300V	A	+	2	0	PRPF4	115088893	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.378000	0.79679	2.752000	0.94435	0.655000	0.94253	GCG		0.468	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		5	458	0	0	0	1	0	5	458				
ABCB1	5243	broad.mit.edu	37	7	87148697	87148697	+	Missense_Mutation	SNP	G	G	A	rs200280095		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:87148697G>A	ENST00000265724.3	-	24	3289	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W	ABCB1_ENST00000543898.1_Missense_Mutation_p.R894W|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	958	ABC transmembrane type-1 2. {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)			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)	GCTCCAAACCGGAAACATCCA	0.378																																						ENST00000265724.3																			0				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.(2872-2874)Cgg>Tgg		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)						95.0	87.0	90.0					7																	87148697		2203	4300	6503	SO:0001583	missense	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.chr7:87148697G>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.2872C>T	7.37:g.87148697G>A	ENSP00000265724:p.Arg958Trp					ABCB1_ENST00000543898.1_Missense_Mutation_p.R894W|ABCB1_ENST00000488737.2_5'UTR	p.R958W	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			24	3289	-	Esophageal squamous(14;0.00164)		958			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2872C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892567	0.52121	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.86366	-2.11;-2.11	5.79	5.79	0.91817	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.111652	0.64402	D	0.000013	D	0.88962	0.6580	L	0.28556	0.865	0.47737	D	0.9995	B;D	0.89917	0.071;1.0	B;D	0.71184	0.027;0.972	D	0.88159	0.2856	10	0.41790	T	0.15	-10.1447	14.8298	0.70139	0.0:0.0:0.8561:0.1439	.	894;958	B5AK60;P08183	.;MDR1_HUMAN	W	739;958;894	ENSP00000265724:R958W;ENSP00000444095:R894W	ENSP00000265724:R958W	R	-	1	2	ABCB1	86986633	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.971000	0.49248	2.736000	0.93811	0.561000	0.74099	CGG		0.378	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		14	49	0	0	0	1	0	14	49				
COL5A1	1289	broad.mit.edu	37	9	137653812	137653812	+	Silent	SNP	C	C	T	rs370766020		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr9:137653812C>T	ENST00000371817.3	+	19	2391	c.1977C>T	c.(1975-1977)gaC>gaT	p.D659D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	659	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCCGGGAGACGATGGAGAAA	0.597																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1975-1977)gaC>gaT		collagen, type V, alpha 1				1,4403	2.1+/-5.4	0,1,2201	109.0	100.0	103.0		1977	-9.1	0.0	9		103	0,8600		0,0,4300	no	coding-synonymous	COL5A1	NM_000093.3		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		659/1839	137653812	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137653812C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1977C>T	9.37:g.137653812C>T							p.D659D	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	19	2391	+		Myeloproliferative disorder(178;0.0341)	659			Triple-helical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.1977C>T	CCDS6982.1																																																																																				0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		15	62	0	0	0	1	0	15	62				
RXFP1	59350	broad.mit.edu	37	4	159573042	159573042	+	Missense_Mutation	SNP	A	A	C			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr4:159573042A>C	ENST00000307765.5	+	18	2360	c.2109A>C	c.(2107-2109)aaA>aaC	p.K703N	RXFP1_ENST00000343542.5_Missense_Mutation_p.K655N|RXFP1_ENST00000460056.2_Missense_Mutation_p.K622N|RXFP1_ENST00000470033.1_Missense_Mutation_p.K670N|RXFP1_ENST00000448688.2_Missense_Mutation_p.K598N	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	703					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GACAAAGAAAATCTATGGACA	0.423																																						ENST00000307765.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(2107-2109)aaA>aaC		relaxin/insulin-like family peptide receptor 1							114.0	105.0	108.0					4																	159573042		1881	4104	5985	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159573042A>C	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.2109A>C	4.37:g.159573042A>C	ENSP00000303248:p.Lys703Asn					RXFP1_ENST00000343542.5_Missense_Mutation_p.K655N|RXFP1_ENST00000448688.2_Missense_Mutation_p.K598N|RXFP1_ENST00000460056.2_Missense_Mutation_p.K622N|RXFP1_ENST00000470033.1_Missense_Mutation_p.K670N	p.K703N	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	18	2360	+	all_hematologic(180;0.24)	Renal(120;0.0854)	703					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.2109A>C	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.850773	0.32699	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.75	0.0364	0.14191	.	0.086182	0.85682	D	0.000000	T	0.19685	0.0473	N	0.19112	0.55	0.24761	N	0.992925	B;B;B;B;B;B;B;B	0.16603	0.008;0.008;0.002;0.018;0.004;0.0;0.008;0.002	B;B;B;B;B;B;B;B	0.21151	0.024;0.015;0.015;0.028;0.033;0.002;0.024;0.015	T	0.13388	-1.0511	10	0.39692	T	0.17	.	6.8978	0.24265	0.4811:0.1233:0.3956:0.0	.	714;730;598;655;670;622;573;703	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	N	622;703;598;655;670;573	ENSP00000423306:K622N;ENSP00000303248:K703N;ENSP00000414885:K598N;ENSP00000345889:K655N;ENSP00000420712:K670N	ENSP00000303248:K703N	K	+	3	2	RXFP1	159792492	1.000000	0.71417	0.982000	0.44146	0.475000	0.33008	1.110000	0.31147	-0.050000	0.13356	-0.274000	0.10170	AAA		0.423	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		9	62	0	0	0	1	0	9	62				
SSRP1	6749	broad.mit.edu	37	11	57099304	57099304	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr11:57099304G>A	ENST00000278412.2	-	9	1327	c.1061C>T	c.(1060-1062)cCg>cTg	p.P354L	snoU13_ENST00000459327.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	354					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CCGCTCCAGCGGGTAGAGCAG	0.567																																					Colon(89;1000 1340 6884 23013 41819)	ENST00000278412.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						c.(1060-1062)cCg>cTg		structure specific recognition protein 1							81.0	75.0	77.0					11																	57099304		2201	4296	6497	SO:0001583	missense	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57099304G>A	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.1061C>T	11.37:g.57099304G>A	ENSP00000278412:p.Pro354Leu						p.P354L	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN			9	1327	-			354					Q5BJG8	Missense_Mutation	SNP	ENST00000278412.2	37	c.1061C>T	CCDS7952.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025751	0.93518	.	.	ENSG00000149136	ENST00000278412	T	0.44881	0.91	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.69700	0.3140	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68221	-0.5466	10	0.39692	T	0.17	-18.9074	19.5069	0.95121	0.0:0.0:1.0:0.0	.	354	Q08945	SSRP1_HUMAN	L	354	ENSP00000278412:P354L	ENSP00000278412:P354L	P	-	2	0	SSRP1	56855880	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	9.157000	0.94714	2.941000	0.99782	0.655000	0.94253	CCG		0.567	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1	NM_003146		7	38	0	0	0	1	0	7	38				
C1orf112	55732	broad.mit.edu	37	1	169821955	169821955	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:169821955G>A	ENST00000286031.6	+	24	3089	c.2389G>A	c.(2389-2391)Gag>Aag	p.E797K	C1orf112_ENST00000359326.4_Missense_Mutation_p.E797K|SCYL3_ENST00000367772.4_3'UTR|C1orf112_ENST00000498289.1_3'UTR|SCYL3_ENST00000367771.6_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	797										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCTCGTCAGGAGTTCCCCTG	0.443																																						ENST00000286031.6																			0				breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34						c.(2389-2391)Gag>Aag		chromosome 1 open reading frame 112							83.0	93.0	89.0					1																	169821955		2203	4300	6503	SO:0001583	missense	55732							g.chr1:169821955G>A	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.2389G>A	1.37:g.169821955G>A	ENSP00000286031:p.Glu797Lys					SCYL3_ENST00000367772.4_3'UTR|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.E797K	p.E797K	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN			24	3089	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		797					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	c.2389G>A	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679886	0.88542	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	T;T	0.51817	0.69;0.69	5.42	5.42	0.78866	.	0.169966	0.51477	D	0.000094	T	0.43433	0.1247	M	0.72118	2.19	0.80722	D	1	P	0.43352	0.804	P	0.45558	0.485	T	0.40701	-0.9549	10	0.39692	T	0.17	-0.9224	14.711	0.69232	0.0:0.0:1.0:0.0	.	797	Q9NSG2	CA112_HUMAN	K	797	ENSP00000352276:E797K;ENSP00000286031:E797K	ENSP00000286031:E797K	E	+	1	0	C1orf112	168088579	0.964000	0.33143	0.006000	0.13384	0.301000	0.27625	4.116000	0.57871	2.527000	0.85204	0.591000	0.81541	GAG		0.443	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		26	172	0	0	0	1	0	26	172				
FLNA	2316	broad.mit.edu	37	X	153578523	153578523	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chrX:153578523G>A	ENST00000369850.3	-	45	7445	c.7209C>T	c.(7207-7209)gaC>gaT	p.D2403D	FLNA_ENST00000369856.3_Silent_p.D536D|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000422373.1_Silent_p.D2395D|FLNA_ENST00000360319.4_Silent_p.D2395D|FLNA_ENST00000344736.4_Silent_p.D2363D	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2403					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)					TGAACTTGACGTCAATCAGGT	0.592											OREG0003592	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000422373.1																			0				breast(6)	6						c.(7183-7185)gaC>gaT		filamin A, alpha							142.0	143.0	143.0					X																	153578523		2084	4218	6302	SO:0001819	synonymous_variant	0				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:153578523G>A	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.7209C>T	X.37:g.153578523G>A			OREG0003592	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1756	FLNA_ENST00000369856.3_Silent_p.D536D|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000360319.4_Silent_p.D2395D|FLNA_ENST00000344736.4_Silent_p.D2363D|FLNA_ENST00000369850.3_Silent_p.D2403D	p.D2395D	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			44	7433	-	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)		2403					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.7185C>T	CCDS48194.1																																																																																				0.592	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			56	224	0	0	0	1	0	56	224				
TAF7	6879	broad.mit.edu	37	5	140699511	140699511	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr5:140699511G>A	ENST00000313368.5	-	1	819	c.101C>T	c.(100-102)tCt>tTt	p.S34F		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	34					DNA-templated transcription, initiation (GO:0006352)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of histone acetylation (GO:0035067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermine transport (GO:0000296)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	histone acetyltransferase binding (GO:0035035)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|vitamin D receptor binding (GO:0042809)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACATGACCAGACTGTACTGC	0.468																																						ENST00000313368.5																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12						c.(100-102)tCt>tTt		TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa							184.0	167.0	173.0					5																	140699511		2203	4300	6503	SO:0001583	missense	6879				negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding	g.chr5:140699511G>A	AF349038	CCDS4259.1	5q31	2008-02-05	2002-08-29	2001-12-07	ENSG00000178913	ENSG00000178913			11541	protein-coding gene	gene with protein product		600573	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD"""	TAF2F		7824954	Standard	NM_005642		Approved	TAFII55	uc003ljg.3	Q15545	OTTHUMG00000129628	ENST00000313368.5:c.101C>T	5.37:g.140699511G>A	ENSP00000312709:p.Ser34Phe						p.S34F	NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	819	-			34					B2RBV9|Q13036	Missense_Mutation	SNP	ENST00000313368.5	37	c.101C>T	CCDS4259.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693653	0.88735	.	.	ENSG00000178913	ENST00000313368	T	0.26067	1.76	5.61	5.61	0.85477	TAFII55 protein, conserved region (1);	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	M	0.83118	2.625	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.59354	-0.7470	10	0.87932	D	0	-8.953	17.5109	0.87760	0.0:0.0:1.0:0.0	.	34	Q15545	TAF7_HUMAN	F	34	ENSP00000312709:S34F	ENSP00000312709:S34F	S	-	2	0	TAF7	140679695	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.756000	0.91651	2.826000	0.97356	0.655000	0.94253	TCT		0.468	TAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251823.2	NM_005642		17	85	0	0	0	1	0	17	85				
CCDC33	80125	broad.mit.edu	37	15	74623364	74623364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr15:74623364C>T	ENST00000398814.3	+	14	2019	c.1588C>T	c.(1588-1590)Cag>Tag	p.Q530*	CCDC33_ENST00000321288.5_Nonsense_Mutation_p.Q733*|CCDC33_ENST00000558821.1_Nonsense_Mutation_p.Q123*|CCDC33_ENST00000268082.4_Nonsense_Mutation_p.Q123*	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	733										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTATCAGGCCCAGCAGCCACA	0.597																																						ENST00000321288.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(2197-2199)Cag>Tag		coiled-coil domain containing 33							19.0	24.0	22.0					15																	74623364		2009	4178	6187	SO:0001587	stop_gained	80125						protein binding	g.chr15:74623364C>T	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1588C>T	15.37:g.74623364C>T	ENSP00000381795:p.Gln530*					CCDC33_ENST00000558821.1_Nonsense_Mutation_p.Q123*|CCDC33_ENST00000398814.3_Nonsense_Mutation_p.Q530*|CCDC33_ENST00000268082.4_Nonsense_Mutation_p.Q123*	p.Q733*			Q8N5R6	CCD33_HUMAN			16	2197	+			733					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Nonsense_Mutation	SNP	ENST00000398814.3	37	c.2197C>T	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227951	0.58777	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	.	.	.	4.95	4.95	0.65309	.	0.222869	0.37623	N	0.002012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	16.9805	0.86326	0.0:1.0:0.0:0.0	.	.	.	.	X	733;530;123;123	.	ENSP00000268082:Q123X	Q	+	1	0	CCDC33	72410417	0.996000	0.38824	0.989000	0.46669	0.207000	0.24258	3.862000	0.56009	2.292000	0.77174	0.551000	0.68910	CAG		0.597	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		7	26	0	0	0	1	0	7	26				
ZNF415	55786	broad.mit.edu	37	19	53612426	53612426	+	Missense_Mutation	SNP	C	C	T	rs138480197	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr19:53612426C>T	ENST00000500065.4	-	4	1205	c.872G>A	c.(871-873)cGg>cAg	p.R291Q	ZNF415_ENST00000440291.1_Missense_Mutation_p.R278Q|ZNF415_ENST00000601493.1_Missense_Mutation_p.R61Q|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.R339Q|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.R303Q|ZNF415_ENST00000243643.4_Missense_Mutation_p.R291Q|ZNF415_ENST00000455735.2_Missense_Mutation_p.R339Q|ZNF415_ENST00000597503.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R291L(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GTGAACTCTCCGATGTAGTGC	0.418																																						ENST00000455735.2																			1	Substitution - Missense(1)	p.R291L(1)	large_intestine(1)	breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1015-1017)cGg>cAg		zinc finger protein 415		C	GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	89.0	93.0		872,872,872	-5.6	0.0	19	dbSNP_134	93	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	ZNF415	NM_001136038.2,NM_001164309.1,NM_018355.2	43,43,43	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign,benign,benign	291/556,291/556,291/556	53612426	3,13003	2203	4300	6503	SO:0001583	missense	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612426C>T	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.872G>A	19.37:g.53612426C>T	ENSP00000439435:p.Arg291Gln					ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.R291Q|ZNF415_ENST00000440291.1_Missense_Mutation_p.R278Q|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.R303Q|ZNF415_ENST00000500065.4_Missense_Mutation_p.R291Q|ZNF415_ENST00000448501.1_Missense_Mutation_p.R339Q|ZNF415_ENST00000601493.1_Missense_Mutation_p.R61Q|ZNF415_ENST00000597748.1_3'UTR	p.R339Q			Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1336	-			339					F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	c.1016G>A	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.607198	0.00842	2.27E-4	2.33E-4	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	2.78	-5.55	0.02536	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04815	0.0130	N	0.05414	-0.055	0.09310	N	1	B;B;B;B;B;B	0.30664	0.0;0.195;0.0;0.047;0.0;0.289	B;B;B;B;B;B	0.28553	0.0;0.091;0.0;0.007;0.0;0.08	T	0.29518	-1.0009	9	0.02654	T	1	.	4.0911	0.09970	0.2495:0.3289:0.0:0.4217	.	291;339;339;291;278;303	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	Q	291;291;339;303;339;278	ENSP00000243643:R291Q;ENSP00000439435:R291Q;ENSP00000396492:R339Q;ENSP00000395055:R303Q;ENSP00000388787:R339Q;ENSP00000414601:R278Q	ENSP00000243643:R291Q	R	-	2	0	ZNF415	58304238	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.175000	0.03102	-2.022000	0.00938	-0.332000	0.08345	CGG		0.418	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		7	40	0	0	0	1	0	7	40				
NDRG3	57446	broad.mit.edu	37	20	35317150	35317150	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr20:35317150A>G	ENST00000349004.1	-	4	212	c.131T>C	c.(130-132)gTc>gCc	p.V44A	NDRG3_ENST00000373803.2_Missense_Mutation_p.V44A|NDRG3_ENST00000359675.2_Missense_Mutation_p.V32A|NDRG3_ENST00000373773.3_Intron|NDRG3_ENST00000540765.1_Intron	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	44					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TCTTATAGTGACGTGGACCAC	0.383																																						ENST00000373803.2																			0				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(130-132)gTc>gCc		NDRG family member 3							272.0	212.0	232.0					20																	35317150		2203	4300	6503	SO:0001583	missense	57446				cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		g.chr20:35317150A>G	AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.131T>C	20.37:g.35317150A>G	ENSP00000345292:p.Val44Ala					NDRG3_ENST00000540765.1_Intron|NDRG3_ENST00000349004.1_Missense_Mutation_p.V44A|NDRG3_ENST00000373773.3_Intron|NDRG3_ENST00000359675.2_Missense_Mutation_p.V32A	p.V44A			Q9UGV2	NDRG3_HUMAN			4	187	-		Myeloproliferative disorder(115;0.00878)	44					A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	ENST00000349004.1	37	c.131T>C	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.161587	0.78226	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000422536	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.35	5.35	0.76521	.	0.059249	0.64402	D	0.000003	T	0.47911	0.1471	M	0.90483	3.12	0.80722	D	1	P;P	0.48162	0.835;0.906	B;P	0.45610	0.396;0.487	T	0.61163	-0.7118	10	0.87932	D	0	.	13.3191	0.60423	1.0:0.0:0.0:0.0	.	32;44	Q9UGV2-2;Q9UGV2	.;NDRG3_HUMAN	A	44;44;32;35	ENSP00000345292:V44A;ENSP00000362909:V44A;ENSP00000352703:V32A;ENSP00000416636:V35A	ENSP00000345292:V44A	V	-	2	0	NDRG3	34750564	1.000000	0.71417	0.969000	0.41365	0.857000	0.48899	6.587000	0.74071	2.243000	0.73865	0.533000	0.62120	GTC		0.383	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			10	56	0	0	0	1	0	10	56				
TMPRSS7	344805	broad.mit.edu	37	3	111797605	111797605	+	Silent	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr3:111797605C>T	ENST00000452346.2	+	17	2244	c.2241C>T	c.(2239-2241)ctC>ctT	p.L747L	TMPRSS7_ENST00000419127.1_Silent_p.L621L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	747	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAGGCTCCCTCGTTCTGCAGC	0.443																																						ENST00000452346.2																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(2239-2241)ctC>ctT		transmembrane protease, serine 7							102.0	102.0	102.0					3																	111797605		1944	4127	6071	SO:0001819	synonymous_variant	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111797605C>T	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2241C>T	3.37:g.111797605C>T						TMPRSS7_ENST00000419127.1_Silent_p.L621L	p.L747L			Q7RTY8	TMPS7_HUMAN			17	2244	+			747			Peptidase S1.		C9J8P7|E9PAS3|Q17RH4	Silent	SNP	ENST00000452346.2	37	c.2241C>T																																																																																					0.443	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		16	51	0	0	0	1	0	16	51				
COL17A1	1308	broad.mit.edu	37	10	105793951	105793951	+	Missense_Mutation	SNP	C	C	T	rs121912771		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr10:105793951C>T	ENST00000353479.5	-	52	4198	c.3908G>A	c.(3907-3909)cGg>cAg	p.R1303Q	COL17A1_ENST00000369733.3_Missense_Mutation_p.R1221Q	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1303	Triple-helical region.		R -> Q (in GABEB; dbSNP:rs121912771). {ECO:0000269|PubMed:9199555}.		cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGAGCTGCCCCGCCTGACAGA	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		13800	0.0		0.001	False		,,,				2504	0.0					ENST00000353479.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62	GRCh37	CM970345	COL17A1	M	rs121912771	c.(3907-3909)cGg>cAg		collagen, type XVII, alpha 1		C	GLN/ARG	0,4406		0,0,2203	31.0	28.0	29.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	3908	4.0	0.0	10	dbSNP_133	29	1,8599		0,1,4299	no	missense	COL17A1	NM_000494.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1303/1498	105793951	1,13005	2203	4300	6503	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105793951C>T	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.3908G>A	10.37:g.105793951C>T	ENSP00000340937:p.Arg1303Gln					COL17A1_ENST00000369733.3_Missense_Mutation_p.R1221Q	p.R1303Q	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	52	4198	-		Colorectal(252;0.103)|Breast(234;0.122)	1303		R -> Q (in GABEB).	Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.3908G>A	CCDS7554.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.312	0.425620	0.11987	0.0	1.16E-4	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.91237	-2.81;-2.79	4.87	3.96	0.45880	.	0.000000	0.34932	N	0.003576	T	0.80954	0.4723	L	0.27053	0.805	0.22066	N	0.999382	P	0.40376	0.715	B	0.32289	0.143	T	0.68640	-0.5355	10	0.13108	T	0.6	-1.2815	13.7012	0.62611	0.0:0.7088:0.2912:0.0	.	1303	Q9UMD9	COHA1_HUMAN	Q	1303;1221	ENSP00000340937:R1303Q;ENSP00000358748:R1221Q	ENSP00000340937:R1303Q	R	-	2	0	COL17A1	105783941	0.001000	0.12720	0.019000	0.16419	0.319000	0.28217	0.636000	0.24644	1.033000	0.39918	0.561000	0.74099	CGG		0.672	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		9	39	0	0	0	1	0	9	39				
NACA	4666	broad.mit.edu	37	12	57109734	57109734	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr12:57109734G>A	ENST00000454682.1	-	3	5861	c.5580C>T	c.(5578-5580)gtC>gtT	p.V1860V	NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Silent_p.V707V|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1860	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGCATGTTGACGAGGACCG	0.562			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(5578-5580)gtC>gtT		nascent polypeptide-associated complex alpha subunit							133.0	121.0	125.0					12																	57109734		1568	3582	5150	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57109734G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5580C>T	12.37:g.57109734G>A						NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Silent_p.V707V|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron	p.V1860V	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	5861	-			0						Silent	SNP	ENST00000454682.1	37	c.5580C>T																																																																																					0.562	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		16	124	0	0	0	1	0	16	124				
CUX1	1523	broad.mit.edu	37	7	101747648	101747648	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:101747648C>T	ENST00000292535.7	+	6	477	c.439C>T	c.(439-441)Cga>Tga	p.R147*	CUX1_ENST00000550008.2_Nonsense_Mutation_p.R147*|CUX1_ENST00000547394.2_Nonsense_Mutation_p.R142*|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Nonsense_Mutation_p.R112*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.R147*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.R147*|CUX1_ENST00000292538.4_Nonsense_Mutation_p.R158*|CUX1_ENST00000393824.3_Nonsense_Mutation_p.R121*|CUX1_ENST00000437600.4_Nonsense_Mutation_p.R158*|CUX1_ENST00000360264.3_Nonsense_Mutation_p.R158*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.R147*	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	147					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.R147*(1)|p.R158*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGAGAAAATCCGAGAATATGA	0.388																																						ENST00000360264.3																			2	Substitution - Nonsense(2)	p.R147*(1)|p.R158*(1)	endometrium(2)	breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(472-474)Cga>Tga		cut-like homeobox 1							148.0	144.0	145.0					7																	101747648		2203	4300	6503	SO:0001587	stop_gained	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101747648C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.439C>T	7.37:g.101747648C>T	ENSP00000292535:p.Arg147*					CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000556210.1_Nonsense_Mutation_p.R147*|CUX1_ENST00000547394.2_Nonsense_Mutation_p.R142*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.R147*|CUX1_ENST00000393824.3_Nonsense_Mutation_p.R121*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.R147*|CUX1_ENST00000437600.4_Nonsense_Mutation_p.R158*|CUX1_ENST00000292535.7_Nonsense_Mutation_p.R147*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.R147*|CUX1_ENST00000292538.4_Nonsense_Mutation_p.R158*|CUX1_ENST00000425244.2_Nonsense_Mutation_p.R112*	p.R158*	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			6	492	+			147					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Nonsense_Mutation	SNP	ENST00000292535.7	37	c.472C>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	44	10.923169	0.99489	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.8376	20.0537	0.97638	0.0:1.0:0.0:0.0	.	.	.	.	X	158;142;158;112;158;147;147;147;147;147	.	ENSP00000292535:R147X	R	+	1	2	CUX1	101534368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.669000	0.54561	2.758000	0.94735	0.561000	0.74099	CGA		0.388	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		33	130	0	0	0	1	0	33	130				
BAGE2	85319	broad.mit.edu	37	21	11058248	11058248	+	RNA	SNP	G	G	A	rs8130203	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr21:11058248G>A	ENST00000470054.1	-	0	399							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAGCACAAGGATAATGATAC	0.433																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							80.0	67.0	71.0					21																	11058248		692	1591	2283			85319							g.chr21:11058248G>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058248G>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	399	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.433	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	92	0	0	0	1	0	4	92				
CLOCK	9575	broad.mit.edu	37	4	56336953	56336954	+	Frame_Shift_Ins	INS	-	-	A	rs369752219		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr4:56336953_56336954insA	ENST00000309964.4	-	7	618_619	c.368_369insT	c.(367-369)ttafs	p.L123fs	CLOCK_ENST00000381322.1_Frame_Shift_Ins_p.L123fs|CLOCK_ENST00000513440.1_Frame_Shift_Ins_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TCATGATTGCTAAAAAAAAACC	0.287																																						ENST00000309964.4																			2	Deletion - Frameshift(2)	p.L123fs*1(2)	ovary(1)|lung(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(367-369)tgcfs		clock circadian regulator																																				SO:0001589	frameshift_variant	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56336953_56336954insA	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.369dupT	4.37:g.56336962_56336962dupA	ENSP00000308741:p.Leu123fs					CLOCK_ENST00000513440.1_Frame_Shift_Ins_p.C123fs|CLOCK_ENST00000381322.1_Frame_Shift_Ins_p.C123fs	p.C123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		7	618_619	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		123			PAS 1.		A0AV01|A2I2N9|O14516|Q9UIT8	Frame_Shift_Ins	INS	ENST00000309964.4	37	c.368_369insT	CCDS3500.1																																																																																				0.287	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		12	55						12	55	---	---	---	---
F13A1	2162	broad.mit.edu	37	6	6266846	6266847	+	Frame_Shift_Ins	INS	-	-	C	rs376147795		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr6:6266846_6266847insC	ENST00000264870.3	-	4	780_781	c.515_516insG	c.(514-516)cgafs	p.R172fs		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	172					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R172Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCGACTGGTTCGAAGTACGCC	0.455																																						ENST00000264870.3																			1	Substitution - Missense(1)	p.R172Q(1)	central_nervous_system(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(514-516)cacfs		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)																																			SO:0001589	frameshift_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6266846_6266847insC	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.516dupG	6.37:g.6266847_6266847dupC	ENSP00000264870:p.Arg172fs						p.H172fs	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			4	780_781	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	172					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Frame_Shift_Ins	INS	ENST00000264870.3	37	c.515_516insG	CCDS4496.1																																																																																				0.455	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		20	110						20	110	---	---	---	---
MAD1L1	8379	broad.mit.edu	37	7	2265126	2265126	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:2265126delC	ENST00000406869.1	-	4	767	c.210delG	c.(208-210)gagfs	p.E70fs	MAD1L1_ENST00000402746.1_Intron|MAD1L1_ENST00000399654.2_Frame_Shift_Del_p.E70fs|MAD1L1_ENST00000265854.7_Frame_Shift_Del_p.E70fs			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	70					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCTGCATTTTCTCCCGCTCCA	0.577																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(208-210)gafs		MAD1 mitotic arrest deficient-like 1 (yeast)							105.0	110.0	109.0					7																	2265126		2103	4226	6329	SO:0001589	frameshift_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2265126delC	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.210delG	7.37:g.2265126delC	ENSP00000385334:p.Glu70fs					MAD1L1_ENST00000399654.2_Frame_Shift_Del_p.E70fs|MAD1L1_ENST00000265854.7_Frame_Shift_Del_p.E70fs|MAD1L1_ENST00000402746.1_Intron	p.E70fs			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	4	767	-		Ovarian(82;0.0272)	70					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Frame_Shift_Del	DEL	ENST00000406869.1	37	c.210delG	CCDS43539.1																																																																																				0.577	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		13	72						13	72	---	---	---	---
TLE1	7088	broad.mit.edu	37	9	84207940	84207943	+	Splice_Site	DEL	CAGA	CAGA	-			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr9:84207940_84207943delCAGA	ENST00000376499.3	-	15	2642_2645	c.1578_1581delTCTG	c.(1576-1581)tgtctg>tg	p.CL526fs		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	526					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GTTCACTCACCAGACAGTCGAGCT	0.534																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.e15+1		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)																																				SO:0001630	splice_region_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84207940_84207943delCAGA		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1581+1TCTG>-	9.37:g.84207940_84207943delCAGA							p.CL526_splice	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			15	2642_2645	-			526					A8K495|Q5T3G4|Q969V9	Splice_Site	DEL	ENST00000376499.3	37	c.1581_splice	CCDS6661.1																																																																																				0.534	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077	Frame_Shift_Del	10	74						10	74	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs376717445|rs199682553|rs112820043|rs11197776	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr10:118396277_118396278insT	ENST00000298771.7	+	0	961				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													-|-|T|insertion	732	0.146166	0.0136	0.1686	5008	,	,		20647	0.3413		0.1252	False		,,,				2504	0.1299					ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2																																						5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118396277_118396278insT	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118396277_118396278insT						PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	962	+								A8K627|Q6IB55	RNA	INS	ENST00000298771.7	37																																																																																						0.421	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		5	10						5	10	---	---	---	---
HOMEZ	57594	broad.mit.edu	37	14	23745310	23745310	+	Frame_Shift_Del	DEL	A	A	-			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr14:23745310delA	ENST00000357460.5	-	2	1291	c.1127delT	c.(1126-1128)ttafs	p.L376fs	HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.L378fs|HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.L378fs	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L376fs*14(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CTGGCACTGTAAAAAAAAGGA	0.488																																						ENST00000357460.5																			1	Deletion - Frameshift(1)	p.L376fs*14(1)	large_intestine(1)	endometrium(5)|lung(7)	12						c.(1126-1128)tafs		homeobox and leucine zipper encoding							112.0	119.0	116.0					14																	23745310		1948	4135	6083	SO:0001589	frameshift_variant	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23745310delA	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1127delT	14.37:g.23745310delA	ENSP00000350049:p.Leu376fs					HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.L378fs|HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.L378fs	p.L376fs	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	1291	-	all_cancers(95;5.54e-06)		376					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Frame_Shift_Del	DEL	ENST00000357460.5	37	c.1127delT	CCDS45085.1																																																																																				0.488	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834		7	79						7	79	---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1559836	1559837	+	In_Frame_Ins	INS	-	-	TTT			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr17:1559836_1559837insTTT	ENST00000572621.1	-	35	5907_5908	c.5642_5643insAAA	c.(5641-5643)aat>aaAAAt	p.1880_1881insK	PRPF8_ENST00000304992.6_In_Frame_Ins_p.1880_1881insK|PRPF8_ENST00000575116.1_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1880	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGATGACAATATTGGGGAAGTC	0.505																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(5641-5643)aat>aAAAat		pre-mRNA processing factor 8																																				SO:0001652	inframe_insertion	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1559836_1559837insTTT	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5642_5643insAAA	17.37:g.1559836_1559837insTTT	ENSP00000460348:p.Pro1880_Asn1881insLys					PRPF8_ENST00000304992.6_In_Frame_Ins_p.1880_1881insK	p.1880_1881insK			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	35	5907_5908	-			1880			Involved in interaction with pre-mRNA 5' splice site.		O14547|O75965	In_Frame_Ins	INS	ENST00000572621.1	37	c.5642_5643insAAA	CCDS11010.1																																																																																				0.505	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			7	77						7	77	---	---	---	---
RP11-123I22.1	0	broad.mit.edu	37	18	76265412	76265412	+	lincRNA	DEL	C	C	-			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr18:76265412delC	ENST00000581634.1	+	0	248																											TTCACTCCAGCACGGCGTCCG	0.622																																						ENST00000581634.1																			0																																																			0							g.chr18:76265412delC																													18.37:g.76265412delC														0	248	+									RNA	DEL	ENST00000581634.1	37																																																																																						0.622	RP11-123I22.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000446088.1			2	4						2	4	---	---	---	---
LOC284395	284395	broad.mit.edu	37	19	29903878	29903878	+	RNA	DEL	A	A	-			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr19:29903878delA	ENST00000582581.1	-	0	409					NR_040029.1																						aattgactgcaaaaaaaatag	0.527																																						ENST00000582581.1																			0																																																			0							g.chr19:29903878delA																													19.37:g.29903878delA								NR_040029.1						0	409	-									RNA	DEL	ENST00000582581.1	37																																																																																						0.527	CTC-525D6.1-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000444111.1			2	4						2	4	---	---	---	---
