#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
HGD	3081	broad.mit.edu	37	3	120360529	120360529	+	Silent	SNP	C	C	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr3:120360529C>T	ENST00000283871.5	-	11	1245	c.786G>A	c.(784-786)ccG>ccA	p.P262P		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	262					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CAACATTGAACGGGGAGACAT	0.418																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(784-786)ccG>ccA		homogentisate 1,2-dioxygenase							133.0	119.0	124.0					3																	120360529		2203	4300	6503	SO:0001819	synonymous_variant	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120360529C>T		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.786G>A	3.37:g.120360529C>T							p.P262P	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	11	1245	-			262					A8K417|B2R8Z0	Silent	SNP	ENST00000283871.5	37	c.786G>A	CCDS3000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.29|17.29	3.353173|3.353173	0.61293|0.61293	.|.	.|.	ENSG00000113924|ENSG00000113924	ENST00000494453|ENST00000475447	.|.	.|.	.|.	5.25|5.25	-10.5|-10.5	0.00291|0.00291	.|.	.|.	.|.	.|.	.|.	T|T	0.56775|0.56775	0.2008|0.2008	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.68191|0.68191	-0.5474|-0.5474	4|4	.|.	.|.	.|.	-9.1996|-9.1996	12.8683|12.8683	0.57951|0.57951	0.0:0.5267:0.1814:0.2919|0.0:0.5267:0.1814:0.2919	.|.	.|.	.|.	.|.	H|I	69|72	.|.	.|.	R|V	-|-	2|1	0|0	HGD|HGD	121843219|121843219	0.932000|0.932000	0.31603|0.31603	0.246000|0.246000	0.24233|0.24233	0.993000|0.993000	0.82548|0.82548	-0.029000|-0.029000	0.12329|0.12329	-2.529000|-2.529000	0.00492|0.00492	-0.294000|-0.294000	0.09567|0.09567	CGT|GTT		0.418	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			6	109	0	0	0	1	0	6	109				
RFX7	64864	broad.mit.edu	37	15	56390461	56390461	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr15:56390461G>A	ENST00000559447.2	-	8	905	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	RFX7_ENST00000422057.1_Missense_Mutation_p.R212W|RFX7_ENST00000317318.6_Missense_Mutation_p.R309W|RFX7_ENST00000423270.1_Missense_Mutation_p.R309W			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	212					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGGATTTTCCGTTGCAACTGC	0.438																																						ENST00000423270.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(925-927)Cgg>Tgg		regulatory factor X, 7							104.0	98.0	100.0					15																	56390461		1865	4116	5981	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56390461G>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.634C>T	15.37:g.56390461G>A	ENSP00000453281:p.Arg212Trp					RFX7_ENST00000559447.2_Missense_Mutation_p.R212W|RFX7_ENST00000317318.6_Missense_Mutation_p.R309W|RFX7_ENST00000422057.1_Missense_Mutation_p.R212W	p.R309W	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN			8	924	-			212					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.925C>T		.	.	.	.	.	.	.	.	.	.	G	19.23	3.786703	0.70337	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.60672	0.2;0.17;0.18	5.54	3.61	0.41365	.	0.000000	0.64402	D	0.000004	T	0.62527	0.2435	N	0.24115	0.695	0.53688	D	0.999973	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.65829	-0.6073	10	0.87932	D	0	-14.9807	13.0385	0.58885	0.0:0.0:0.5759:0.4241	.	212;212	Q2KHR2;C9JU50	RFX7_HUMAN;.	W	212;309;309	ENSP00000387504:R212W;ENSP00000313299:R309W;ENSP00000397644:R309W	ENSP00000313299:R309W	R	-	1	2	RFX7	54177753	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.774000	0.47694	0.765000	0.33221	0.655000	0.94253	CGG		0.438	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		17	27	0	0	0	1	0	17	27				
C1orf87	127795	broad.mit.edu	37	1	60505832	60505832	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr1:60505832A>C	ENST00000371201.3	-	5	611	c.504T>G	c.(502-504)agT>agG	p.S168R	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	168							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTGTTGTCCCACTTGGGCTCT	0.443																																					NSCLC(75;811 1386 4923 13371 51772)	ENST00000371201.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(502-504)agT>agG		chromosome 1 open reading frame 87							74.0	80.0	78.0					1																	60505832		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60505832A>C	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.504T>G	1.37:g.60505832A>C	ENSP00000360244:p.Ser168Arg					C1orf87_ENST00000450089.2_Intron	p.S168R	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN			5	611	-			168					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.504T>G	CCDS614.1	.	.	.	.	.	.	.	.	.	.	A	1.992	-0.431552	0.04669	.	.	ENSG00000162598	ENST00000371201	T	0.18657	2.2	5.18	2.8	0.32819	.	0.000000	0.64402	D	0.000006	T	0.15176	0.0366	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.18777	-1.0326	10	0.52906	T	0.07	-5.4467	8.3633	0.32372	0.5299:0.0:0.0:0.4701	.	168	Q8N0U7	CA087_HUMAN	R	168	ENSP00000360244:S168R	ENSP00000360244:S168R	S	-	3	2	C1orf87	60278420	0.039000	0.19947	0.310000	0.25168	0.009000	0.06853	0.178000	0.16820	0.406000	0.25560	-0.309000	0.09137	AGT		0.443	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		32	69	0	0	0	1	0	32	69				
CFH	3075	broad.mit.edu	37	1	196716343	196716343	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr1:196716343T>A	ENST00000367429.4	+	22	3836	c.3596T>A	c.(3595-3597)tTt>tAt	p.F1199Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1199	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.		F -> S (in AHUS1). {ECO:0000269|PubMed:14978182}.		complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TCAGTTGAATTTGTGTGTAAA	0.398																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101	GRCh37	CM044594	CFH	M		c.(3595-3597)tTt>tAt		complement factor H							235.0	211.0	219.0					1																	196716343		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196716343T>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3596T>A	1.37:g.196716343T>A	ENSP00000356399:p.Phe1199Tyr						p.F1199Y	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			22	3836	+			1199		F -> S (in AHUS1).	Sushi 20.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.3596T>A	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	14.60	2.583818	0.46006	.	.	ENSG00000000971	ENST00000367429	D	0.90444	-2.67	4.35	4.35	0.52113	Complement control module (1);Sushi/SCR/CCP (3);	.	.	.	.	D	0.93301	0.7865	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.91635	0.5322	9	0.02654	T	1	.	11.3105	0.49362	0.0:0.0:0.0:1.0	.	1199	P08603	CFAH_HUMAN	Y	1199	ENSP00000356399:F1199Y	ENSP00000356399:F1199Y	F	+	2	0	CFH	194982966	1.000000	0.71417	0.893000	0.35052	0.007000	0.05969	4.180000	0.58296	1.973000	0.57446	0.374000	0.22700	TTT		0.398	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		5	157	0	0	0	1	0	5	157				
OR5J2	282775	broad.mit.edu	37	11	55944829	55944829	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr11:55944829A>G	ENST00000312298.1	+	1	736	c.736A>G	c.(736-738)Act>Gct	p.T246A		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTCTCACCTGACTGCTGTGAC	0.443																																						ENST00000312298.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44						c.(736-738)Act>Gct		olfactory receptor, family 5, subfamily J, member 2							136.0	124.0	128.0					11																	55944829		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944829A>G	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.736A>G	11.37:g.55944829A>G	ENSP00000310788:p.Thr246Ala						p.T246A	NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN			1	736	+	Esophageal squamous(21;0.00693)		246					Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.736A>G	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.244032	0.22796	.	.	ENSG00000174957	ENST00000312298	T	0.37235	1.21	4.26	0.0808	0.14422	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000022	T	0.40546	0.1121	L	0.56280	1.765	0.09310	N	1	D	0.63046	0.992	P	0.60541	0.876	T	0.24119	-1.0169	10	0.49607	T	0.09	.	2.0969	0.03670	0.5181:0.1375:0.0789:0.2656	.	246	Q8NH18	OR5J2_HUMAN	A	246	ENSP00000310788:T246A	ENSP00000310788:T246A	T	+	1	0	OR5J2	55701405	0.000000	0.05858	0.001000	0.08648	0.166000	0.22503	-0.143000	0.10296	-0.180000	0.10637	0.482000	0.46254	ACT		0.443	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		34	74	0	0	0	1	0	34	74				
CARD11	84433	broad.mit.edu	37	7	2983876	2983876	+	Silent	SNP	C	C	T	rs113957419	byFrequency	TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:2983876C>T	ENST00000396946.4	-	5	1057	c.654G>A	c.(652-654)gcG>gcA	p.A218A	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	218					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCTCATGACCGCCATGTTCT	0.572			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(652-654)gcG>gcA		caspase recruitment domain family, member 11							163.0	101.0	122.0					7																	2983876		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2983876C>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.654G>A	7.37:g.2983876C>T						AC004906.3_ENST00000423194.1_RNA	p.A218A	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	1057	-		Ovarian(82;0.0115)	218					A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.654G>A	CCDS5336.2																																																																																				0.572	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		19	42	0	0	0	1	0	19	42				
SLC9C2	284525	broad.mit.edu	37	1	173552695	173552695	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr1:173552695A>G	ENST00000367714.3	-	6	1012	c.590T>C	c.(589-591)aTt>aCt	p.I197T	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.I95T	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	197					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TCCAAAAAAAATTGATGCGAT	0.289																																						ENST00000367714.3																			0											c.(589-591)aTt>aCt		solute carrier family 9, member C2 (putative)							53.0	58.0	56.0					1																	173552695		2203	4298	6501	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173552695A>G	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.590T>C	1.37:g.173552695A>G	ENSP00000356687:p.Ile197Thr					SLC9C2_ENST00000536496.1_Missense_Mutation_p.I95T|RP3-436N22.3_ENST00000431459.1_RNA	p.I197T	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			6	1012	-			197					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.590T>C	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.824582	0.32237	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.13307	2.6;2.6	5.37	4.24	0.50183	Cation/H+ exchanger (1);	0.369542	0.23053	N	0.052475	T	0.05777	0.0151	L	0.47716	1.5	0.09310	N	1	B	0.27013	0.166	B	0.32677	0.15	T	0.24835	-1.0149	10	0.66056	D	0.02	-7.9434	8.654	0.34051	0.8301:0.0:0.0:0.1699	.	197	Q5TAH2	S9A11_HUMAN	T	197;95	ENSP00000356687:I197T;ENSP00000445437:I95T	ENSP00000356687:I197T	I	-	2	0	SLC9A11	171819318	0.087000	0.21565	0.002000	0.10522	0.001000	0.01503	2.984000	0.49353	0.869000	0.35703	-0.309000	0.09137	ATT		0.289	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		51	70	0	0	0	1	0	51	70				
SLCO4C1	353189	broad.mit.edu	37	5	101595961	101595961	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr5:101595961C>T	ENST00000310954.6	-	6	1370	c.1084G>A	c.(1084-1086)Gtg>Atg	p.V362M		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCAAATTTCACATCTGCATTA	0.294																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1084-1086)Gtg>Atg		solute carrier organic anion transporter family, member 4C1							40.0	42.0	41.0					5																	101595961		2200	4295	6495	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101595961C>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1084G>A	5.37:g.101595961C>T	ENSP00000309741:p.Val362Met						p.V362M	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	6	1370	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	362						Missense_Mutation	SNP	ENST00000310954.6	37	c.1084G>A	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	4.215	0.038720	0.08148	.	.	ENSG00000173930	ENST00000310954	T	0.39056	1.1	5.75	1.36	0.22044	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.089520	0.06969	N	0.817712	T	0.23094	0.0558	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.22765	-1.0207	10	0.46703	T	0.11	.	6.2323	0.20742	0.0:0.4847:0.2716:0.2437	.	362	Q6ZQN7	SO4C1_HUMAN	M	362	ENSP00000309741:V362M	ENSP00000309741:V362M	V	-	1	0	SLCO4C1	101623860	0.000000	0.05858	0.104000	0.21259	0.017000	0.09413	-0.354000	0.07681	0.329000	0.23460	0.650000	0.86243	GTG		0.294	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		8	18	0	0	0	1	0	8	18				
NR3C2	4306	broad.mit.edu	37	4	149075788	149075788	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr4:149075788T>C	ENST00000358102.3	-	5	2641	c.2279A>G	c.(2278-2280)gAt>gGt	p.D760G	NR3C2_ENST00000344721.4_Missense_Mutation_p.D760G|NR3C2_ENST00000511528.1_Missense_Mutation_p.D764G|NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000355292.3_Missense_Mutation_p.D764G|NR3C2_ENST00000512865.1_Intron	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	760	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TTCGGCTGTATCTGGTTTTGA	0.488																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2290-2292)gAt>gGt		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						202.0	199.0	200.0					4																	149075788		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149075788T>C	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2279A>G	4.37:g.149075788T>C	ENSP00000350815:p.Asp760Gly					NR3C2_ENST00000511528.1_Missense_Mutation_p.D764G|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Missense_Mutation_p.D760G|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000342437.4_Intron|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000358102.3_Missense_Mutation_p.D760G	p.D764G			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	5	2653	-	all_hematologic(180;0.151)		760			Steroid-binding.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.2291A>G	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999765	0.74818	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000511528	D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1	5.91	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.97751	0.9262	M	0.79123	2.44	0.58432	D	0.999998	D	0.76494	0.999	D	0.91635	0.999	D	0.97529	1.0078	9	.	.	.	.	13.3837	0.60783	0.0:0.0:0.1313:0.8687	.	760	B0ZBF6	.	G	760;764;760;764	ENSP00000341390:D760G;ENSP00000347441:D764G;ENSP00000350815:D760G;ENSP00000421481:D764G	.	D	-	2	0	NR3C2	149295238	1.000000	0.71417	0.536000	0.28039	0.678000	0.39670	8.029000	0.88807	1.040000	0.40099	0.533000	0.62120	GAT		0.488	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			4	130	0	0	0	1	0	4	130				
ASS1	445	broad.mit.edu	37	9	133364801	133364801	+	Missense_Mutation	SNP	G	G	A	rs571576756		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr9:133364801G>A	ENST00000372394.1	+	13	1401	c.920G>A	c.(919-921)cGc>cAc	p.R307H	ASS1_ENST00000352480.5_Missense_Mutation_p.R307H|ASS1_ENST00000372393.3_Missense_Mutation_p.R307H			P00966	ASSY_HUMAN	argininosuccinate synthase 1	307			R -> C (in CTLN1; dbSNP:rs183276875).		acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGGGAAGTGCGCAAAATCAAA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		16284	0.0		0.001	False		,,,				2504	0.0					ENST00000372394.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(919-921)cGc>cAc		argininosuccinate synthase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						135.0	149.0	144.0					9																	133364801		2203	4300	6503	SO:0001583	missense	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133364801G>A	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.920G>A	9.37:g.133364801G>A	ENSP00000361471:p.Arg307His					ASS1_ENST00000352480.5_Missense_Mutation_p.R307H|ASS1_ENST00000372393.3_Missense_Mutation_p.R307H	p.R307H			P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	13	1401	+			307		R -> C (in CTLN1).			Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	c.920G>A	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422464	0.62622	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000372386	D;D;D;D	0.99105	-5.43;-5.43;-5.43;-5.08	4.5	4.5	0.54988	Argininosuccinate synthetase, catalytic/multimerisation domain body (1);	0.000000	0.85682	U	0.000000	D	0.97087	0.9048	L	0.55103	1.725	0.80722	D	1	B;B;B;B;B	0.31274	0.243;0.317;0.317;0.243;0.243	B;B;B;B;B	0.20955	0.032;0.031;0.031;0.021;0.021	D	0.98310	1.0523	10	0.15952	T	0.53	.	16.5684	0.84604	0.0:0.0:1.0:0.0	.	307;190;190;307;307	A8KAP9;B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;.;ASSY_HUMAN	H	307;307;307;307;64	ENSP00000253004:R307H;ENSP00000361471:R307H;ENSP00000361469:R307H;ENSP00000361461:R64H	ENSP00000361470:R307H	R	+	2	0	ASS1	132354622	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.182000	0.94881	2.220000	0.72140	0.462000	0.41574	CGC		0.532	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		4	210	0	0	0	1	0	4	210				
ATP6V0A4	50617	broad.mit.edu	37	7	138444521	138444521	+	Silent	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:138444521G>A	ENST00000310018.2	-	8	897	c.615C>T	c.(613-615)gaC>gaT	p.D205D	ATP6V0A4_ENST00000393054.1_Silent_p.D205D|ATP6V0A4_ENST00000353492.4_Silent_p.D205D|ATP6V0A4_ENST00000483139.1_5'Flank	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	205					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCAGAGGGGCGTCCATCTCAC	0.532																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(613-615)gaC>gaT		ATPase, H+ transporting, lysosomal V0 subunit a4							106.0	90.0	96.0					7																	138444521		2203	4300	6503	SO:0001819	synonymous_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138444521G>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.615C>T	7.37:g.138444521G>A						ATP6V0A4_ENST00000393054.1_Silent_p.D205D|ATP6V0A4_ENST00000353492.4_Silent_p.D205D	p.D205D	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			8	897	-			205					A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	c.615C>T	CCDS5849.1																																																																																				0.532	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		4	65	0	0	0	1	0	4	65				
SEPHS1	22929	broad.mit.edu	37	10	13386920	13386920	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:13386920T>C	ENST00000327347.5	-	2	406	c.31A>G	c.(31-33)Agt>Ggt	p.S11G	SEPHS1_ENST00000545675.1_Missense_Mutation_p.S11G|SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000537130.1_Intron|SEPHS1_ENST00000378614.4_Missense_Mutation_p.S11G	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	11					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						AATTCGTAACTTTCCGGGTTA	0.542																																						ENST00000327347.5																			0				cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						c.(31-33)Agt>Ggt		selenophosphate synthetase 1							105.0	110.0	108.0					10																	13386920		2203	4300	6503	SO:0001583	missense	22929				protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	g.chr10:13386920T>C	BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.31A>G	10.37:g.13386920T>C	ENSP00000367893:p.Ser11Gly					SEPHS1_ENST00000537130.1_Intron|SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000378614.4_Missense_Mutation_p.S11G|SEPHS1_ENST00000545675.1_Missense_Mutation_p.S11G	p.S11G	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN			2	406	-			11					B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Missense_Mutation	SNP	ENST00000327347.5	37	c.31A>G	CCDS7098.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.066664	0.36470	.	.	ENSG00000086475	ENST00000327347;ENST00000319684;ENST00000378614;ENST00000545675;ENST00000413411	T;T;T	0.46063	0.91;0.9;0.88	4.7	4.7	0.59300	.	0.080328	0.85682	D	0.000000	T	0.32010	0.0815	L	0.29908	0.895	0.58432	D	0.999998	B;B;B;B	0.09022	0.002;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.08027	-1.0742	10	0.39692	T	0.17	-25.2257	13.3516	0.60605	0.0:0.0:0.0:1.0	.	11;11;11;11	Q5T5U9;P49903;D6PSQ9;D3DRS9	.;SPS1_HUMAN;.;.	G	11	ENSP00000367893:S11G;ENSP00000367877:S11G;ENSP00000441119:S11G	ENSP00000367887:S11G	S	-	1	0	SEPHS1	13426926	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.095000	0.64529	1.745000	0.51790	0.260000	0.18958	AGT		0.542	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1	NM_012247		7	158	0	0	0	1	0	7	158				
IPMK	253430	broad.mit.edu	37	10	59956132	59956132	+	Missense_Mutation	SNP	G	G	A	rs375383787		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:59956132G>A	ENST00000373935.3	-	6	1278	c.956C>T	c.(955-957)gCg>gTg	p.A319V		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	319					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CCTGTGACGCGCATACATCTT	0.378																																						ENST00000373935.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						c.(955-957)gCg>gTg		inositol polyphosphate multikinase		G	VAL/ALA	0,4406		0,0,2203	144.0	146.0	145.0		956	2.9	0.5	10		145	3,8597	3.0+/-9.4	0,3,4297	no	missense	IPMK	NM_152230.4	64	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	319/417	59956132	3,13003	2203	4300	6503	SO:0001583	missense	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59956132G>A	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.956C>T	10.37:g.59956132G>A	ENSP00000363046:p.Ala319Val						p.A319V	NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN			6	1278	-			319						Missense_Mutation	SNP	ENST00000373935.3	37	c.956C>T	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	G	6.658	0.489926	0.12702	0.0	3.49E-4	ENSG00000151151	ENST00000373935	T	0.17213	2.29	6.07	2.93	0.34026	.	0.417900	0.29876	N	0.010973	T	0.07458	0.0188	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.36672	-0.9738	9	.	.	.	-0.9649	7.9357	0.29929	0.3101:0.0:0.6899:0.0	.	319	Q8NFU5	IPMK_HUMAN	V	319	ENSP00000363046:A319V	.	A	-	2	0	IPMK	59626138	0.995000	0.38212	0.540000	0.28089	0.248000	0.25809	3.557000	0.53741	0.918000	0.36919	-0.225000	0.12378	GCG		0.378	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		5	173	0	0	0	1	0	5	173				
TACC2	10579	broad.mit.edu	37	10	123847056	123847056	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:123847056C>A	ENST00000369005.1	+	4	5381	c.5041C>A	c.(5041-5043)Cct>Act	p.P1681T	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.P1681T|TACC2_ENST00000453444.2_Missense_Mutation_p.P1681T|TACC2_ENST00000515603.1_Missense_Mutation_p.P1681T|TACC2_ENST00000334433.3_Missense_Mutation_p.P1681T|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1681					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAGAGCACCCCTGCACCACC	0.622																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(5041-5043)Cct>Act		transforming, acidic coiled-coil containing protein 2							59.0	59.0	59.0					10																	123847056		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123847056C>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5041C>A	10.37:g.123847056C>A	ENSP00000358001:p.Pro1681Thr					TACC2_ENST00000334433.3_Missense_Mutation_p.P1681T|TACC2_ENST00000515273.1_Missense_Mutation_p.P1681T|TACC2_ENST00000515603.1_Missense_Mutation_p.P1681T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.P1681T	p.P1681T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	5381	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1681					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.5041C>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387489	0.61956	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.19669	2.42;2.49;2.13;2.42;2.49	5.48	5.48	0.80851	.	0.234632	0.22309	N	0.061745	T	0.34861	0.0912	L	0.32530	0.975	0.09310	N	0.999999	D;D;D	0.71674	0.998;0.998;0.993	D;P;P	0.64687	0.928;0.881;0.881	T	0.12167	-1.0558	10	0.72032	D	0.01	-1.6341	16.095	0.81114	0.0:1.0:0.0:0.0	.	1681;1681;1681	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	T	1681;1681;1681;1681;1681;1671	ENSP00000358001:P1681T;ENSP00000424467:P1681T;ENSP00000427618:P1681T;ENSP00000334280:P1681T;ENSP00000395048:P1681T	ENSP00000334280:P1681T	P	+	1	0	TACC2	123837046	0.002000	0.14202	0.153000	0.22517	0.010000	0.07245	1.470000	0.35354	2.562000	0.86427	0.643000	0.83706	CCT		0.622	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			7	40	1	0	0.0381472	1	0.0388284	7	40				
KRTAP4-6	81871	broad.mit.edu	37	17	39296152	39296152	+	Silent	SNP	A	A	G	rs551614044	byFrequency	TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr17:39296152A>G	ENST00000345847.4	-	1	587	c.588T>C	c.(586-588)cgT>cgC	p.R196R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	196						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACAAGGGACGGGGGCAGG	0.597													a|||	234	0.0467252	0.0726	0.0504	5008	,	,		18042	0.0179		0.0298	False		,,,				2504	0.0562					ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(586-588)cgT>cgC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296152A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.588T>C	17.37:g.39296152A>G							p.R196R	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	587	-			192					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.588T>C	CCDS54125.1																																																																																				0.597	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	5	0	0	0	1	0	3	5				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	72	0	0	0	1	0	4	72				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		6	41	0	0	0	1	0	6	41				
PDP2	57546	broad.mit.edu	37	16	66919758	66919758	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr16:66919758C>T	ENST00000311765.2	+	2	1905	c.1571C>T	c.(1570-1572)gCa>gTa	p.A524V	RP11-61A14.2_ENST00000561475.1_lincRNA|PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	524					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TCAATCGGTGCATATTACAAG	0.438																																						ENST00000311765.2																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(1570-1572)gCa>gTa		pyruvate dehyrogenase phosphatase catalytic subunit 2							63.0	64.0	64.0					16																	66919758		2160	4201	6361	SO:0001583	missense	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66919758C>T	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.1571C>T	16.37:g.66919758C>T	ENSP00000309548:p.Ala524Val					PDP2_ENST00000568720.1_Intron	p.A524V	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	1905	+		Ovarian(137;0.0563)	524					A8K924	Missense_Mutation	SNP	ENST00000311765.2	37	c.1571C>T	CCDS10822.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.549990	0.27652	.	.	ENSG00000172840	ENST00000311765	T	0.45276	0.9	5.78	4.75	0.60458	.	1.029010	0.07748	N	0.948177	T	0.33469	0.0864	L	0.34521	1.04	0.09310	N	1	B	0.26400	0.148	B	0.24006	0.05	T	0.07635	-1.0762	10	0.38643	T	0.18	-3.6192	8.7398	0.34550	0.1655:0.7312:0.0:0.1033	.	524	Q9P2J9	PDP2_HUMAN	V	524	ENSP00000309548:A524V	ENSP00000309548:A524V	A	+	2	0	PDP2	65477259	0.006000	0.16342	0.222000	0.23844	0.780000	0.44128	1.992000	0.40737	2.745000	0.94114	0.655000	0.94253	GCA		0.438	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		19	80	0	0	0	1	0	19	80				
ZNF287	57336	broad.mit.edu	37	17	16466534	16466534	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr17:16466534T>C	ENST00000395824.1	-	5	1258	c.641A>G	c.(640-642)tAc>tGc	p.Y214C	ZNF287_ENST00000395825.3_Missense_Mutation_p.Y214C			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	207	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		AGTTGGTCTGTACACTGTAAG	0.393																																						ENST00000395824.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(640-642)tAc>tGc		zinc finger protein 287							69.0	71.0	70.0					17																	16466534		2203	4300	6503	SO:0001583	missense	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16466534T>C	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.641A>G	17.37:g.16466534T>C	ENSP00000379168:p.Tyr214Cys					ZNF287_ENST00000395825.3_Missense_Mutation_p.Y214C	p.Y214C			Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	5	1258	-			207			KRAB.		Q6IAG1	Missense_Mutation	SNP	ENST00000395824.1	37	c.641A>G	CCDS11179.2	.	.	.	.	.	.	.	.	.	.	T	14.59	2.580790	0.46006	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.00801	5.68;5.68	4.37	4.37	0.52481	Krueppel-associated box (3);	0.000000	0.43747	D	0.000524	T	0.01387	0.0045	N	0.03917	-0.325	0.35394	D	0.791019	D	0.76494	0.999	D	0.80764	0.994	T	0.74691	-0.3580	10	0.42905	T	0.14	.	10.2753	0.43506	0.0:0.0:0.0:1.0	.	207	Q9HBT7	ZN287_HUMAN	C	214	ENSP00000379169:Y214C;ENSP00000379168:Y214C	ENSP00000379168:Y214C	Y	-	2	0	ZNF287	16407259	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	1.192000	0.32150	2.195000	0.70347	0.528000	0.53228	TAC		0.393	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1			5	100	0	0	0	1	0	5	100				
CASP8	841	broad.mit.edu	37	2	202136285	202136285	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr2:202136285A>G	ENST00000432109.2	+	4	541	c.352A>G	c.(352-354)Agg>Ggg	p.R118G	CASP8_ENST00000392258.3_Missense_Mutation_p.R118G|CASP8_ENST00000264275.5_Missense_Mutation_p.R150G|CASP8_ENST00000358485.4_Missense_Mutation_p.R177G|CASP8_ENST00000392266.3_Missense_Mutation_p.R118G|CASP8_ENST00000323492.7_Missense_Mutation_p.R118G|CASP8_ENST00000264274.9_Missense_Mutation_p.R118G|CASP8_ENST00000392259.2_Missense_Mutation_p.R118G	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	118	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ATCAGAATTGAGGTCTTTTAA	0.388										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(529-531)Agg>Ggg		caspase 8, apoptosis-related cysteine peptidase							128.0	129.0	129.0					2																	202136285		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202136285A>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.352A>G	2.37:g.202136285A>G	ENSP00000412523:p.Arg118Gly	HNSCC(4;0.00038)				CASP8_ENST00000392266.3_Missense_Mutation_p.R118G|CASP8_ENST00000264275.5_Missense_Mutation_p.R150G|CASP8_ENST00000264274.9_Missense_Mutation_p.R118G|CASP8_ENST00000323492.7_Missense_Mutation_p.R118G|CASP8_ENST00000432109.2_Missense_Mutation_p.R118G|CASP8_ENST00000392258.3_Missense_Mutation_p.R118G|CASP8_ENST00000392259.2_Missense_Mutation_p.R118G	p.R177G	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			3	725	+			118			DED 2.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.529A>G	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813292	0.32053	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492	T;D;D;D;T;D;D;D;D;D;T;D;T	0.82803	4.4;-1.56;-1.56;-1.56;4.4;-1.56;-1.56;-1.65;-1.56;-1.56;4.37;-1.56;4.4	4.71	2.34	0.29019	DEATH-like (2);Death effector (3);	0.810102	0.11624	N	0.545442	T	0.77164	0.4090	L	0.46157	1.445	0.23277	N	0.997995	B;P;B;B;P;P;B;B;B;P	0.43094	0.016;0.481;0.404;0.099;0.673;0.692;0.012;0.03;0.246;0.799	B;B;B;B;B;B;B;B;B;B	0.42738	0.02;0.217;0.167;0.075;0.396;0.364;0.021;0.014;0.156;0.364	T	0.61564	-0.7037	10	0.23302	T	0.38	.	8.046	0.30549	0.8297:0.0:0.1703:0.0	.	118;118;118;118;118;177;118;118;150;118	Q14790-3;Q14790-6;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;.;CASP8_HUMAN;.;.;.	G	118;118;118;118;118;150;15;118;118;118;177;118;118;118	ENSP00000376091:R118G;ENSP00000264274:R118G;ENSP00000376088:R118G;ENSP00000376094:R118G;ENSP00000412523:R118G;ENSP00000264275:R150G;ENSP00000391709:R15G;ENSP00000396869:R118G;ENSP00000376087:R118G;ENSP00000388306:R118G;ENSP00000351273:R177G;ENSP00000397528:R118G;ENSP00000325722:R118G	ENSP00000264274:R118G	R	+	1	2	CASP8	201844530	0.993000	0.37304	0.034000	0.17996	0.001000	0.01503	3.247000	0.51422	0.318000	0.23185	-0.376000	0.06991	AGG		0.388	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		11	60	0	0	0	1	0	11	60				
FBXO27	126433	broad.mit.edu	37	19	39517588	39517588	+	Silent	SNP	G	G	A	rs552069426		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr19:39517588G>A	ENST00000292853.4	-	5	749	c.630C>T	c.(628-630)gaC>gaT	p.D210D	FBXO27_ENST00000509137.2_Silent_p.D210D|FBXO27_ENST00000600828.1_Silent_p.D209D	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	210	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCTGGTTGGCGTCTAGAAGTT	0.562													g|||	1	0.000199681	0.0	0.0	5008	,	,		17717	0.001		0.0	False		,,,				2504	0.0					ENST00000292853.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17						c.(628-630)gaC>gaT		F-box protein 27							187.0	173.0	178.0					19																	39517588		2203	4300	6503	SO:0001819	synonymous_variant	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39517588G>A	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.630C>T	19.37:g.39517588G>A						FBXO27_ENST00000600828.1_Silent_p.D209D|FBXO27_ENST00000509137.2_Silent_p.D210D	p.D210D	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		5	749	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		210			FBA.		Q96C87	Silent	SNP	ENST00000292853.4	37	c.630C>T	CCDS12527.1																																																																																				0.562	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			6	139	0	0	0	1	0	6	139				
KRT3	3850	broad.mit.edu	37	12	53185104	53185104	+	Missense_Mutation	SNP	G	G	A	rs201927015		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr12:53185104G>A	ENST00000417996.2	-	7	1495	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V	KRT3_ENST00000309505.3_Missense_Mutation_p.A474V	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	474	Coil 2.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GTCATCCTTCGCCTGCTGTAG	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20940	0.0		0.0	False		,,,				2504	0.0					ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(1420-1422)gCg>gTg		keratin 3		G	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	87.0	84.0	85.0		1421	4.5	1.0	12		85	0,8600		0,0,4300	yes	missense	KRT3	NM_057088.2	64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	474/629	53185104	2,13004	2203	4300	6503	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53185104G>A		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1421C>T	12.37:g.53185104G>A	ENSP00000413479:p.Ala474Val					KRT3_ENST00000309505.3_Missense_Mutation_p.A474V	p.A474V	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			7	1495	-			474			Coil 2.|Rod.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.1421C>T	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050104	0.75846	4.54E-4	0.0	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.82433	-1.61;-1.61	4.53	4.53	0.55603	Filament (1);	0.000000	0.42420	D	0.000709	D	0.90283	0.6961	M	0.88241	2.94	0.40875	D	0.983942	D	0.71674	0.998	P	0.58820	0.846	D	0.92184	0.5754	10	0.87932	D	0	.	12.738	0.57236	0.0:0.0:0.7946:0.2054	.	474	P12035	K2C3_HUMAN	V	474	ENSP00000413479:A474V;ENSP00000312206:A474V	ENSP00000312206:A474V	A	-	2	0	KRT3	51471371	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	1.548000	0.36201	2.516000	0.84829	0.561000	0.74099	GCG		0.612	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		5	102	0	0	0	1	0	5	102				
HIST1H1D	3007	broad.mit.edu	37	6	26234906	26234906	+	Nonsense_Mutation	SNP	T	T	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr6:26234906T>A	ENST00000244534.5	-	1	310	c.256A>T	c.(256-258)Aag>Tag	p.K86*		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	86	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				ACCAAGCTCTTGAGGCCAAGC	0.542																																						ENST00000244534.5																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						c.(256-258)Aag>Tag		histone cluster 1, H1d							99.0	105.0	103.0					6																	26234906		2203	4300	6503	SO:0001587	stop_gained	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26234906T>A	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.256A>T	6.37:g.26234906T>A	ENSP00000244534:p.Lys86*						p.K86*	NM_005320.2	NP_005311.1	P16402	H13_HUMAN			1	310	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	86			H15.		B2R751|Q2M2I2	Nonsense_Mutation	SNP	ENST00000244534.5	37	c.256A>T	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	17.74	3.462814	0.63513	.	.	ENSG00000124575	ENST00000244534	.	.	.	5.23	5.23	0.72850	.	0.046775	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7509	14.6026	0.68450	0.0:0.0:0.0:1.0	.	.	.	.	X	86	.	ENSP00000244534:K86X	K	-	1	0	HIST1H1D	26342885	1.000000	0.71417	0.979000	0.43373	0.068000	0.16541	5.042000	0.64202	2.119000	0.64992	0.533000	0.62120	AAG		0.542	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		6	164	0	0	0	1	0	6	164				
OR5M3	219482	broad.mit.edu	37	11	56237368	56237368	+	Silent	SNP	G	G	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr11:56237368G>C	ENST00000312240.2	-	1	646	c.606C>G	c.(604-606)ggC>ggG	p.G202G		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TGAAGTTAATGCCGGCAAGTA	0.418																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(604-606)ggC>ggG		olfactory receptor, family 5, subfamily M, member 3							128.0	125.0	126.0					11																	56237368		2201	4296	6497	SO:0001819	synonymous_variant	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237368G>C	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.606C>G	11.37:g.56237368G>C							p.G202G	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	646	-	Esophageal squamous(21;0.00448)		202					B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	c.606C>G	CCDS31532.1																																																																																				0.418	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		32	103	0	0	0	1	0	32	103				
SH2B2	10603	broad.mit.edu	37	7	101960850	101960850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:101960850G>A	ENST00000536178.1	+	9	1610	c.1565G>A	c.(1564-1566)tGg>tAg	p.W522*	SH2B2_ENST00000306803.8_Nonsense_Mutation_p.W482*			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	483					actin cytoskeleton organization (GO:0030036)|antigen receptor-mediated signaling pathway (GO:0050851)|B-1 B cell homeostasis (GO:0001922)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cytokine-mediated signaling pathway (GO:0019221)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|regulation of JAK-STAT cascade (GO:0046425)|regulation of metabolic process (GO:0019222)|regulation of Ras protein signal transduction (GO:0046578)|signal transduction (GO:0007165)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stress fiber (GO:0001725)	JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						CAGCATCTGTGGTTCCAGTCT	0.647																																						ENST00000536178.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						c.(1564-1566)tGg>tAg		SH2B adaptor protein 2							71.0	77.0	75.0					7																	101960850		2185	4275	6460	SO:0001587	stop_gained	10603				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr7:101960850G>A	AB000520		7q22.1	2013-02-14			ENSG00000160999	ENSG00000160999		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	17381	protein-coding gene	gene with protein product	"""adaptor protein with pleckstrin homology and src"""	605300				9233773	Standard	XM_005276976		Approved	APS	uc011kko.2	O14492	OTTHUMG00000150652	ENST00000536178.1:c.1565G>A	7.37:g.101960850G>A	ENSP00000440273:p.Trp522*					SH2B2_ENST00000306803.8_Nonsense_Mutation_p.W482*	p.W522*			O14492	SH2B2_HUMAN			9	1610	+			483					A6ND74	Nonsense_Mutation	SNP	ENST00000536178.1	37	c.1565G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	37|37	6.630630|6.630630	0.97718|0.97718	.|.	.|.	ENSG00000160999|ENSG00000160999	ENST00000432527|ENST00000536178;ENST00000306803	.|.	.|.	.|.	4.57|4.57	3.62|3.62	0.41486|0.41486	.|.	.|0.062548	.|0.64402	.|D	.|0.000001	T|.	0.33381|.	0.0861|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1.000000|1.000000	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29610|.	-1.0006|.	3|.	.|0.02654	.|T	.|1	-19.8588|-19.8588	13.7459|13.7459	0.62874|0.62874	0.0:0.0:0.8461:0.1539|0.0:0.0:0.8461:0.1539	.|.	.|.	.|.	.|.	S|X	88|522;482	.|.	.|ENSP00000304701:W482X	G|W	+|+	1|2	0|0	SH2B2|SH2B2	101747570|101747570	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.014000|6.014000	0.70784|0.70784	2.531000|2.531000	0.85337|0.85337	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.647	SH2B2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_020979		11	144	0	0	0	1	0	11	144				
BRWD1	54014	broad.mit.edu	37	21	40570809	40570809	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr21:40570809T>C	ENST00000333229.2	-	40	5860	c.5533A>G	c.(5533-5535)Att>Gtt	p.I1845V	BRWD1_ENST00000342449.3_Missense_Mutation_p.I1845V|BRWD1_ENST00000380800.3_Missense_Mutation_p.I1845V	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1845					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTTCCTGAAATTGGGTTCATT	0.358																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(5533-5535)Att>Gtt		bromodomain and WD repeat domain containing 1							131.0	129.0	129.0					21																	40570809		2202	4300	6502	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40570809T>C	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.5533A>G	21.37:g.40570809T>C	ENSP00000330753:p.Ile1845Val					BRWD1_ENST00000380800.3_Missense_Mutation_p.I1845V|BRWD1_ENST00000333229.2_Missense_Mutation_p.I1845V	p.I1845V	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			40	5611	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1845					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.5533A>G	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	6.717	0.501011	0.12822	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.44083	0.93;0.93;0.93	5.48	0.623	0.17654	.	1.222240	0.05812	N	0.614197	T	0.17152	0.0412	N	0.04355	-0.22	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.21690	-1.0238	10	0.05959	T	0.93	-0.25	4.6941	0.12795	0.0:0.2246:0.1641:0.6112	.	1845;1845	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	V	1845	ENSP00000330753:I1845V;ENSP00000344333:I1845V;ENSP00000370178:I1845V	ENSP00000330753:I1845V	I	-	1	0	BRWD1	39492679	0.000000	0.05858	0.000000	0.03702	0.741000	0.42261	-0.198000	0.09505	0.073000	0.16731	0.533000	0.62120	ATT		0.358	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		5	143	0	0	0	1	0	5	143				
RIPK2	8767	broad.mit.edu	37	8	90782109	90782109	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr8:90782109A>G	ENST00000220751.4	+	4	907	c.593A>G	c.(592-594)tAt>tGt	p.Y198C	RIPK2_ENST00000540020.1_Missense_Mutation_p.Y61C	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			CCTGAAAACTATGAACCTGGA	0.408																																						ENST00000220751.4																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10						c.(592-594)tAt>tGt		receptor-interacting serine-threonine kinase 2							118.0	118.0	118.0					8																	90782109		2203	4300	6503	SO:0001583	missense	8767				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	g.chr8:90782109A>G	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.593A>G	8.37:g.90782109A>G	ENSP00000220751:p.Tyr198Cys					RIPK2_ENST00000540020.1_Missense_Mutation_p.Y61C	p.Y198C	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0474)		4	907	+			198			Protein kinase.		B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	c.593A>G	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	A	19.89	3.910271	0.72983	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.65178	-0.14;-0.14	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38897	N	0.001533	T	0.66809	0.2827	N	0.16862	0.45	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.72394	-0.4307	10	0.72032	D	0.01	-19.3822	15.5958	0.76578	1.0:0.0:0.0:0.0	.	198	O43353	RIPK2_HUMAN	C	198;61	ENSP00000220751:Y198C;ENSP00000441623:Y61C	ENSP00000220751:Y198C	Y	+	2	0	RIPK2	90851246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.860000	0.75473	2.277000	0.76020	0.528000	0.53228	TAT		0.408	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			6	226	0	0	0	1	0	6	226				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			49	63	0	0	0	1	0	49	63				
MMRN1	22915	broad.mit.edu	37	4	90857200	90857200	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr4:90857200T>C	ENST00000394980.1	+	7	2688	c.2369T>C	c.(2368-2370)gTc>gCc	p.V790A	MMRN1_ENST00000264790.2_Missense_Mutation_p.V790A|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.V532A			Q13201	MMRN1_HUMAN	multimerin 1	790					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAGACTTTGGTCAATGACAAT	0.378																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(2368-2370)gTc>gCc		multimerin 1							56.0	55.0	55.0					4																	90857200		2203	4298	6501	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857200T>C	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2369T>C	4.37:g.90857200T>C	ENSP00000378431:p.Val790Ala					MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.V790A|MMRN1_ENST00000508372.1_Missense_Mutation_p.V532A	p.V790A			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	7	2688	+		Hepatocellular(203;0.114)	790					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.2369T>C	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	T	7.315	0.615783	0.14129	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.70399	-0.17;-0.17;-0.48	4.97	2.51	0.30379	.	1.462680	0.04052	N	0.304977	T	0.65964	0.2742	L	0.50333	1.59	0.40956	D	0.984584	B	0.02656	0.0	B	0.04013	0.001	T	0.37709	-0.9694	10	0.21540	T	0.41	.	9.5522	0.39317	0.0:0.1463:0.0:0.8537	.	790	Q13201	MMRN1_HUMAN	A	790;790;532	ENSP00000378431:V790A;ENSP00000264790:V790A;ENSP00000426461:V532A	ENSP00000264790:V790A	V	+	2	0	MMRN1	91076223	0.491000	0.26019	0.766000	0.31476	0.192000	0.23643	2.667000	0.46808	0.439000	0.26476	-0.256000	0.11100	GTC		0.378	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		3	70	0	0	0	1	0	3	70				
ZMAT1	84460	broad.mit.edu	37	X	101138846	101138846	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:101138846T>C	ENST00000372782.3	-	7	1600	c.1553A>G	c.(1552-1554)tAc>tGc	p.Y518C	ZMAT1_ENST00000458570.1_Missense_Mutation_p.Y347C|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.Y518C	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	518						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GAGGTGCTTGTAAACTTCAGA	0.413																																						ENST00000372782.3																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						c.(1552-1554)tAc>tGc		zinc finger, matrin-type 1							145.0	120.0	128.0					X																	101138846		2202	4300	6502	SO:0001583	missense	84460					nucleus	zinc ion binding	g.chrX:101138846T>C	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1553A>G	X.37:g.101138846T>C	ENSP00000361868:p.Tyr518Cys					ZMAT1_ENST00000540921.1_Missense_Mutation_p.Y518C|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.Y347C	p.Y518C	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN			7	1600	-			347					Q8NDS3|Q96JN6	Missense_Mutation	SNP	ENST00000372782.3	37	c.1553A>G	CCDS35348.1	.	.	.	.	.	.	.	.	.	.	T	4.269	0.048975	0.08243	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.27402	2.29;2.29;1.67	4.37	1.84	0.25277	.	1.090020	0.07011	N	0.825139	T	0.28001	0.0690	M	0.63843	1.955	0.09310	N	1	B	0.15930	0.015	B	0.15052	0.012	T	0.37220	-0.9715	10	0.44086	T	0.13	0.1648	1.0851	0.01650	0.1886:0.1074:0.1917:0.5123	.	518	Q5H9K5	ZMAT1_HUMAN	C	518;518;347	ENSP00000361868:Y518C;ENSP00000437529:Y518C;ENSP00000413044:Y347C	ENSP00000361868:Y518C	Y	-	2	0	ZMAT1	101025502	0.002000	0.14202	0.001000	0.08648	0.629000	0.37895	0.426000	0.21363	0.239000	0.21243	0.486000	0.48141	TAC		0.413	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			4	48	0	0	0	1	0	4	48				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	41	0	0	0	1	0	3	41				
IL16	3603	broad.mit.edu	37	15	81558108	81558108	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr15:81558108C>G	ENST00000302987.4	+	3	530	c.530C>G	c.(529-531)tCt>tGt	p.S177C	IL16_ENST00000394660.2_Missense_Mutation_p.S177C			Q14005	IL16_HUMAN	interleukin 16	177					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AAGTCCCTCTCTCAACAATTG	0.512											OREG0023362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(529-531)tCt>tGt		interleukin 16							43.0	40.0	41.0					15																	81558108		1895	4123	6018	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81558108C>G	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.530C>G	15.37:g.81558108C>G	ENSP00000302935:p.Ser177Cys		OREG0023362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1207	IL16_ENST00000302987.4_Missense_Mutation_p.S177C	p.S177C	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			4	890	+			177					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.530C>G	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576437	0.45902	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000302987	T;T	0.13307	2.61;2.6	4.45	4.45	0.53987	.	0.000000	0.41938	D	0.000800	T	0.35885	0.0947	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.987;0.994	T	0.14035	-1.0487	10	0.66056	D	0.02	.	16.0476	0.80731	0.0:1.0:0.0:0.0	.	177;177	Q14005;Q14005-2	IL16_HUMAN;.	C	177	ENSP00000378155:S177C;ENSP00000302935:S177C	ENSP00000302935:S177C	S	+	2	0	IL16	79345163	1.000000	0.71417	0.702000	0.30337	0.051000	0.14879	5.741000	0.68638	2.296000	0.77279	0.650000	0.86243	TCT		0.512	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		14	44	0	0	0	1	0	14	44				
LEF1	51176	broad.mit.edu	37	4	108985490	108985490	+	Splice_Site	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr4:108985490A>G	ENST00000265165.1	-	10	1820		c.e10+1		LEF1_ENST00000379951.2_Splice_Site|LEF1_ENST00000438313.2_Splice_Site|LEF1_ENST00000503879.1_Splice_Site|LEF1_ENST00000510624.1_Splice_Site	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1						alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CATGGTGCCTACCTGATGCAG	0.433																																						ENST00000379951.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25						c.e9+1		lymphoid enhancer-binding factor 1							376.0	325.0	342.0					4																	108985490		2203	4300	6503	SO:0001630	splice_region_variant	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:108985490A>G		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.1165+1T>C	4.37:g.108985490A>G						LEF1_ENST00000438313.2_Splice_Site|LEF1_ENST00000510624.1_Splice_Site|LEF1_ENST00000503879.1_Splice_Site|LEF1_ENST00000265165.1_Splice_Site		NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	9	2270	-								B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Splice_Site	SNP	ENST00000265165.1	37		CCDS3679.1	.	.	.	.	.	.	.	.	.	.	A	13.56	2.274690	0.40194	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1084	0.53825	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LEF1	109204939	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	7.384000	0.79751	1.841000	0.53522	0.533000	0.62120	.		0.433	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2		Intron	18	64	0	0	0	1	0	18	64				
PIH1D2	120379	broad.mit.edu	37	11	111941252	111941252	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr11:111941252G>T	ENST00000280350.4	-	5	943	c.721C>A	c.(721-723)Cat>Aat	p.H241N	PIH1D2_ENST00000528775.1_Missense_Mutation_p.H241N|PIH1D2_ENST00000532211.1_Missense_Mutation_p.H241N|PIH1D2_ENST00000530641.1_Missense_Mutation_p.H241N|PIH1D2_ENST00000521853.2_5'Flank|PIH1D2_ENST00000431456.1_Missense_Mutation_p.H241N	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	241										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		CTGTGATCATGCACAATTTTT	0.398																																						ENST00000530641.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(721-723)Cat>Aat		PIH1 domain containing 2							147.0	151.0	149.0					11																	111941252		2201	4297	6498	SO:0001583	missense	120379							g.chr11:111941252G>T	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.721C>A	11.37:g.111941252G>T	ENSP00000280350:p.His241Asn					PIH1D2_ENST00000431456.1_Missense_Mutation_p.H241N|PIH1D2_ENST00000280350.4_Missense_Mutation_p.H241N|PIH1D2_ENST00000532211.1_Missense_Mutation_p.H241N|PIH1D2_ENST00000528775.1_Missense_Mutation_p.H241N	p.H241N			Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	5	1046	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	241					B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	c.721C>A	CCDS8355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.861|0.861	-0.735405|-0.735405	0.03111|0.03111	.|.	.|.	ENSG00000150773|ENSG00000150773	ENST00000525072|ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641	.|T;T;T;T;T	.|0.16196	.|2.36;2.36;2.36;2.36;2.36	6.17|6.17	0.22|0.22	0.15279|0.15279	.|.	.|1.069820	.|0.07046	.|N	.|0.831129	T|T	0.09949|0.09949	0.0244|0.0244	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.06786	.|0.001;0.001;0.001	.|B;B;B	.|0.04013	.|0.001;0.001;0.001	T|T	0.41610|0.41610	-0.9499|-0.9499	5|10	.|0.16896	.|T	.|0.51	-0.1351|-0.1351	9.5991|9.5991	0.39591|0.39591	0.0:0.0926:0.1387:0.7687|0.0:0.0926:0.1387:0.7687	.|.	.|241;241;241	.|B4DU48;E9PD82;Q8WWB5	.|.;.;PIHD2_HUMAN	E|N	196|241	.|ENSP00000434275:H241N;ENSP00000388209:H241N;ENSP00000431841:H241N;ENSP00000280350:H241N;ENSP00000431147:H241N	.|ENSP00000280350:H241N	A|H	-|-	2|1	0|0	PIH1D2|PIH1D2	111446462|111446462	0.049000|0.049000	0.20398|0.20398	0.016000|0.016000	0.15963|0.15963	0.195000|0.195000	0.23768|0.23768	0.841000|0.841000	0.27613|0.27613	-0.167000|-0.167000	0.10871|0.10871	-0.182000|-0.182000	0.12963|0.12963	GCA|CAT		0.398	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789		5	132	1	0	0.184627	1	0.184627	5	132				
VIP	7432	broad.mit.edu	37	6	153076508	153076508	+	Splice_Site	SNP	G	G	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr6:153076508G>C	ENST00000367244.3	+	4	507	c.335G>C	c.(334-336)aGc>aCc	p.S112T	VIP_ENST00000367243.3_Splice_Site_p.S112T	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	112					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		AAACGTGTTAGGTAAAGAGaa	0.313																																						ENST00000367244.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6						c.e4+1		vasoactive intestinal peptide							39.0	40.0	40.0					6																	153076508		2203	4298	6501	SO:0001630	splice_region_variant	7432				body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity	g.chr6:153076508G>C		CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"""Endogenous ligands"""	12693	protein-coding gene	gene with protein product	"""prepro-VIP"""	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.335+1G>C	6.37:g.153076508G>C						VIP_ENST00000367243.3_Splice_Site_p.S112_splice	p.S112_splice	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)	4	507	+		Ovarian(120;0.0654)	112					Q5TCY8|Q5TCY9|Q96QK3	Splice_Site	SNP	ENST00000367244.3	37	c.335_splice	CCDS5240.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.19|17.19	3.327119|3.327119	0.60743|0.60743	.|.	.|.	ENSG00000146469|ENSG00000146469	ENST00000367244;ENST00000367243|ENST00000431366	T;T|.	0.26518|.	1.77;1.73|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.298098|.	0.42053|.	D|.	0.000773|.	T|.	0.79759|.	0.4501|.	M|M	0.80746|0.80746	2.51|2.51	0.80722|0.80722	D|D	1|1	P;P;B|.	0.45176|.	0.77;0.852;0.286|.	B;B;B|.	0.43783|.	0.248;0.431;0.082|.	T|.	0.78048|.	-0.2356|.	10|.	0.48119|.	T|.	0.1|.	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	112;112;112|.	A8K7E4;P01282-2;P01282|.	.;.;VIP_HUMAN|.	T|Y	112|61	ENSP00000356213:S112T;ENSP00000356212:S112T|.	ENSP00000356212:S112T|.	S|X	+|+	2|3	0|2	VIP|VIP	153118201|153118201	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.692000|0.692000	0.40212|0.40212	7.344000|7.344000	0.79328|0.79328	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	AGC;AGT|TAG		0.313	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042751.1		Missense_Mutation	13	38	0	0	0	1	0	13	38				
DYSF	8291	broad.mit.edu	37	2	71797733	71797733	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr2:71797733G>A	ENST00000258104.3	+	29	3313	c.3036G>A	c.(3034-3036)tgG>tgA	p.W1012*	DYSF_ENST00000413539.2_Nonsense_Mutation_p.W1043*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.W1013*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.W999*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.W1029*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.W1013*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.W1030*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.W1044*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.W1030*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.W1029*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.W1012*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1012					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCCCAGGCTGGGAGTATAGCA	0.617																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(3034-3036)tgG>tgA		dysferlin							41.0	41.0	41.0					2																	71797733		2202	4299	6501	SO:0001587	stop_gained	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71797733G>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3036G>A	2.37:g.71797733G>A	ENSP00000258104:p.Trp1012*					DYSF_ENST00000410041.1_Nonsense_Mutation_p.W1030*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.W999*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.W1029*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.W1013*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.W1013*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.W1029*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.W1044*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.W1012*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.W1043*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.W1030*	p.W1012*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			29	3313	+			1012					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Nonsense_Mutation	SNP	ENST00000258104.3	37	c.3036G>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	41	8.830378	0.98970	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1896	15.8891	0.79279	0.0:0.0:1.0:0.0	.	.	.	.	X	1043;1029;1029;1012;1012;1044;1013;999;1013;1030;1030	.	ENSP00000258104:W1012X	W	+	3	0	DYSF	71651241	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	9.608000	0.98331	2.322000	0.78497	0.609000	0.83330	TGG		0.617	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		10	11	0	0	0	1	0	10	11				
DNAH10	196385	broad.mit.edu	37	12	124364299	124364299	+	Missense_Mutation	SNP	G	G	A	rs376242111	byFrequency	TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr12:124364299G>A	ENST00000409039.3	+	49	8256	c.8231G>A	c.(8230-8232)cGc>cAc	p.R2744H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2744					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R2744H(1)|p.R1336H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGAGAACCACGCATTTATGAA	0.532													G|||	2	0.000399361	0.0	0.0	5008	,	,		17033	0.0		0.0	False		,,,				2504	0.002					ENST00000409039.3																			2	Substitution - Missense(2)	p.R2744H(1)|p.R1336H(1)	prostate(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(8230-8232)cGc>cAc		dynein, axonemal, heavy chain 10		G	HIS/ARG	1,4129		0,1,2064	235.0	228.0	230.0		8231	5.8	0.1	12		230	0,8396		0,0,4198	no	missense	DNAH10	NM_207437.3	29	0,1,6262	AA,AG,GG		0.0,0.0242,0.0080	possibly-damaging	2744/4472	124364299	1,12525	2065	4198	6263	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124364299G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8231G>A	12.37:g.124364299G>A	ENSP00000386770:p.Arg2744His						p.R2744H	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	49	8256	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2744					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.8231G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877175	0.72180	2.42E-4	0.0	ENSG00000197653	ENST00000409039	T	0.25579	1.79	5.76	5.76	0.90799	.	0.093211	0.41097	U	0.000959	T	0.48187	0.1486	M	0.93550	3.43	0.80722	D	1	D	0.53885	0.963	B	0.43728	0.429	T	0.65446	-0.6166	10	0.66056	D	0.02	.	19.9616	0.97254	0.0:0.0:1.0:0.0	.	2744	Q8IVF4	DYH10_HUMAN	H	2744	ENSP00000386770:R2744H	ENSP00000386770:R2744H	R	+	2	0	DNAH10	122930252	1.000000	0.71417	0.050000	0.19076	0.020000	0.10135	9.641000	0.98458	2.724000	0.93272	0.561000	0.74099	CGC		0.532	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			5	250	0	0	0	1	0	5	250				
TP53	7157	broad.mit.edu	37	17	7579415	7579415	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr17:7579415C>T	ENST00000269305.4	-	4	461	c.272G>A	c.(271-273)tGg>tAg	p.W91*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*|TP53_ENST00000420246.2_Nonsense_Mutation_p.W91*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	91	Interaction with WWOX.		W -> C (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.W91*(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGACAGGGGCCAGGAGGGGGC	0.632		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		25	Deletion - Frameshift(10)|Whole gene deletion(8)|Substitution - Nonsense(7)	p.0?(8)|p.W91*(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)	lung(7)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|prostate(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(271-273)tGg>tAg	Other conserved DNA damage response genes	tumor protein p53							44.0	50.0	48.0					17																	7579415		2202	4299	6501	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579415C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.272G>A	17.37:g.7579415C>T	ENSP00000269305:p.Trp91*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Nonsense_Mutation_p.W91*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*	p.W91*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	404	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	91		W -> C (in a sporadic cancer; somatic mutation).	Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.272G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911071	0.72983	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.08	4.08	0.47627	.	0.425160	0.22616	N	0.057766	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.1711	14.5887	0.68347	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000269305:W91X	W	-	2	0	TP53	7520140	0.997000	0.39634	0.998000	0.56505	0.633000	0.38033	-0.143000	0.10296	2.561000	0.86390	0.561000	0.74099	TGG		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		84	14	0	0	0	1	0	84	14				
ANKRD30A	91074	broad.mit.edu	37	10	37454040	37454040	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:37454040A>G	ENST00000602533.1	+	18	1952	c.1853A>G	c.(1852-1854)gAa>gGa	p.E618G	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E618G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E618G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	674					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTCCCATCAGAATCCAAACAA	0.284																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1852-1854)gAa>gGa		ankyrin repeat domain 30A							115.0	109.0	111.0					10																	37454040		1804	4062	5866	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37454040A>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1853A>G	10.37:g.37454040A>G	ENSP00000473551:p.Glu618Gly					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E618G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E618G	p.E618G			Q9BXX3	AN30A_HUMAN			18	1952	+			674					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1853A>G		.	.	.	.	.	.	.	.	.	.	.	2.982	-0.210155	0.06140	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.07327	3.2;3.2	1.01	-2.02	0.07388	.	.	.	.	.	T	0.08802	0.0218	L	0.27053	0.805	0.09310	N	1	P	0.45126	0.851	P	0.55391	0.775	T	0.24297	-1.0164	9	0.21540	T	0.41	.	2.882	0.05650	0.2371:0.3804:0.3825:0.0	.	674	Q9BXX3	AN30A_HUMAN	G	618	ENSP00000354432:E618G;ENSP00000363792:E618G	ENSP00000354432:E618G	E	+	2	0	ANKRD30A	37494046	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.533000	0.06157	-0.692000	0.05128	-0.904000	0.02843	GAA		0.284	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		19	115	0	0	0	1	0	19	115				
ATRX	546	broad.mit.edu	37	X	76939959	76939959	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:76939959C>T	ENST00000373344.5	-	9	1003	c.789G>A	c.(787-789)tgG>tgA	p.W263*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.W225*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	263	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.W263*(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGTAGCAATACCATTGGTTGT	0.393			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		2	Substitution - Nonsense(1)|Unknown(1)	p.W263*(1)|p.?(1)	central_nervous_system(1)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(787-789)tgG>tgA		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						160.0	148.0	152.0					X																	76939959		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939959C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.789G>A	X.37:g.76939959C>T	ENSP00000362441:p.Trp263*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.W225*	p.W263*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1003	-			263			ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.789G>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	38	6.856805	0.97889	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.0559	18.4456	0.90682	0.0:1.0:0.0:0.0	.	.	.	.	X	263;225;219	.	ENSP00000362441:W263X	W	-	3	0	ATRX	76826615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.298000	0.77334	0.513000	0.50165	TGG		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		16	173	0	0	0	1	0	16	173				
CTNNA2	1496	broad.mit.edu	37	2	80835412	80835412	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr2:80835412A>G	ENST00000402739.4	+	16	2404	c.2399A>G	c.(2398-2400)cAg>cGg	p.Q800R	CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q834R|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000466387.1_Missense_Mutation_p.Q800R|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q800R|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000343114.3_Missense_Mutation_p.Q479R|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q800R|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000599412.2_RNA|AC008067.2_ENST00000596783.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	800					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCAGAAGTGCAGAATCTGGGA	0.468																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2398-2400)cAg>cGg		catenin (cadherin-associated protein), alpha 2							109.0	104.0	106.0					2																	80835412		1940	4163	6103	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80835412A>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2399A>G	2.37:g.80835412A>G	ENSP00000384638:p.Gln800Arg					AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q800R|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000343114.3_Missense_Mutation_p.Q479R|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q834R|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q800R|CTNNA2_ENST00000402739.4_Missense_Mutation_p.Q800R	p.Q800R			P26232	CTNA2_HUMAN			21	3123	+			800					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2399A>G		.	.	.	.	.	.	.	.	.	.	A	15.88	2.962901	0.53507	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000343114	T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	M	0.89214	3.015	0.80722	D	1	B;D;P	0.76494	0.036;0.999;0.819	B;D;B	0.75020	0.067;0.985;0.346	T	0.72760	-0.4196	9	.	.	.	.	16.3631	0.83280	1.0:0.0:0.0:0.0	.	432;800;800	F6KRI5;P26232;P26232-2	.;CTNA2_HUMAN;.	R	800;800;834;800;800;479	ENSP00000418191:Q800R;ENSP00000419295:Q800R;ENSP00000355398:Q834R;ENSP00000384638:Q800R;ENSP00000444675:Q800R;ENSP00000341500:Q479R	.	Q	+	2	0	CTNNA2	80688923	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.339000	0.96797	2.266000	0.75297	0.533000	0.62120	CAG		0.468	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		7	69	0	0	0	1	0	7	69				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000355232.3_Splice_Site_p.H157R|AGAP10_ENST00000413193.2_Splice_Site_p.H228R|RP11-144G6.12_ENST00000605970.1_RNA			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	4	38	0	0	0	1	0	4	38				
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs369119448|rs112443847		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716																																						ENST00000268489.5																			3	Substitution - coding silent(3)	p.G3519G(3)	lung(2)|prostate(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10555-10557)ggT>ggC		zinc finger homeobox 3							9.0	13.0	11.0					16																	72821618		1463	3169	4632	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821618A>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10557T>C	16.37:g.72821618A>G						ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	p.G3519G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11229	-		Ovarian(137;0.13)	3519			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10557T>C	CCDS10908.1																																																																																				0.716	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	49	0	0	0	1	0	4	49				
GCNT3	9245	broad.mit.edu	37	15	59911450	59911450	+	Missense_Mutation	SNP	G	G	A	rs142393489		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr15:59911450G>A	ENST00000396065.1	+	3	1461	c.1013G>A	c.(1012-1014)cGt>cAt	p.R338H	GCNT3_ENST00000560585.1_Missense_Mutation_p.R338H	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	338					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCCTTCAGCGTGCACGGTGG	0.507																																						ENST00000396065.1																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1012-1014)cGt>cAt		glucosaminyl (N-acetyl) transferase 3, mucin type							120.0	111.0	114.0					15																	59911450		2190	4290	6480	SO:0001583	missense	9245				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr15:59911450G>A	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.1013G>A	15.37:g.59911450G>A	ENSP00000379377:p.Arg338His					GCNT3_ENST00000560585.1_Missense_Mutation_p.R338H	p.R338H	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN			3	1461	+			338						Missense_Mutation	SNP	ENST00000396065.1	37	c.1013G>A	CCDS10172.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991162	0.93106	.	.	ENSG00000140297	ENST00000396065	T	0.11277	2.79	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.27054	-1.0085	10	0.49607	T	0.09	.	19.4741	0.94979	0.0:0.0:1.0:0.0	.	338	O95395	GCNT3_HUMAN	H	338	ENSP00000379377:R338H	ENSP00000379377:R338H	R	+	2	0	GCNT3	57698742	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.869000	0.99810	2.595000	0.87683	0.655000	0.94253	CGT		0.507	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751		11	139	0	0	0	1	0	11	139				
RP1	6101	broad.mit.edu	37	8	55540532	55540532	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr8:55540532A>G	ENST00000220676.1	+	4	4238	c.4090A>G	c.(4090-4092)Aga>Gga	p.R1364G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1364					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGAGTTAGAAAGAGGTGATGA	0.323																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(4090-4092)Aga>Gga		retinitis pigmentosa 1 (autosomal dominant)							61.0	66.0	64.0					8																	55540532		2203	4299	6502	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540532A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4090A>G	8.37:g.55540532A>G	ENSP00000220676:p.Arg1364Gly						p.R1364G	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4238	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1364						Missense_Mutation	SNP	ENST00000220676.1	37	c.4090A>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.788706	0.31685	.	.	ENSG00000104237	ENST00000220676	T	0.22336	1.96	5.89	5.89	0.94794	.	0.579979	0.16729	N	0.201956	T	0.16300	0.0392	L	0.27053	0.805	0.24761	N	0.992926	B	0.17852	0.024	B	0.15052	0.012	T	0.12372	-1.0550	10	0.72032	D	0.01	.	10.0529	0.42228	0.9249:0.0:0.0751:0.0	.	1364	P56715	RP1_HUMAN	G	1364	ENSP00000220676:R1364G	ENSP00000220676:R1364G	R	+	1	2	RP1	55703085	0.918000	0.31147	0.018000	0.16275	0.626000	0.37791	2.578000	0.46051	2.254000	0.74563	0.533000	0.62120	AGA		0.323	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		4	77	0	0	0	1	0	4	77				
MYH7	4625	broad.mit.edu	37	14	23886516	23886516	+	Silent	SNP	C	C	T			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr14:23886516C>T	ENST00000355349.3	-	32	4527	c.4365G>A	c.(4363-4365)gaG>gaA	p.E1455E	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1455					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)			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)		TCTGCTTCCACTCGGCCAGGA	0.622																																						ENST00000355349.3																			0				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.(4363-4365)gaG>gaA		myosin, heavy chain 7, cardiac muscle, beta							60.0	60.0	60.0					14																	23886516		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.chr14:23886516C>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.4365G>A	14.37:g.23886516C>T							p.E1455E	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	32	4527	-	all_cancers(95;2.54e-05)		1455					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4365G>A	CCDS9601.1																																																																																				0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		7	81	0	0	0	1	0	7	81				
INTS1	26173	broad.mit.edu	37	7	1516294	1516294	+	Splice_Site	SNP	C	C	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:1516294C>G	ENST00000404767.3	-	37	5149		c.e37-1		INTS1_ENST00000389470.4_Splice_Site	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1						inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGGGTCGAACCTGTGGGGAGG	0.627																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.e38-1		integrator complex subunit 1							39.0	47.0	44.0					7																	1516294		2058	4204	6262	SO:0001630	splice_region_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1516294C>G	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.5064-1G>C	7.37:g.1516294C>G						INTS1_ENST00000404767.3_Splice_Site				Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	38	5660	-		Ovarian(82;0.0253)						A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Splice_Site	SNP	ENST00000404767.3	37		CCDS47526.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.929927	0.34096	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5364	0.91011	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	INTS1	1482820	1.000000	0.71417	0.973000	0.42090	0.071000	0.16799	7.426000	0.80270	2.386000	0.81285	0.561000	0.74099	.		0.627	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		Intron	17	57	0	0	0	1	0	17	57				
PAXIP1	22976	broad.mit.edu	37	7	154767623	154767623	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:154767623T>C	ENST00000404141.1	-	6	1011	c.857A>G	c.(856-858)gAg>gGg	p.E286G	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.E286G			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	286					adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CAACCCAGGCTCCTTTCCCTG	0.522																																						ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(856-858)gAg>gGg		PAX interacting (with transcription-activation domain) protein 1							58.0	55.0	56.0					7																	154767623		1873	4095	5968	SO:0001583	missense	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154767623T>C	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.857A>G	7.37:g.154767623T>C	ENSP00000384048:p.Glu286Gly					PAXIP1_ENST00000397192.1_Missense_Mutation_p.E286G|PAXIP1_ENST00000473219.1_5'UTR	p.E286G			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	6	1011	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	286					O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	c.857A>G	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.772851	0.49680	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.34275	1.37;1.37	5.04	3.89	0.44902	.	0.242632	0.27996	N	0.017013	T	0.27241	0.0668	L	0.27053	0.805	0.33463	D	0.585143	B;B;B;B	0.29136	0.001;0.234;0.002;0.076	B;B;B;B	0.33690	0.001;0.168;0.003;0.031	T	0.35847	-0.9772	10	0.41790	T	0.15	-31.0315	10.1333	0.42691	0.0:0.0808:0.0:0.9192	.	239;195;252;286	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	G	286;286;234;239	ENSP00000384048:E286G;ENSP00000380376:E286G	ENSP00000319149:E239G	E	-	2	0	PAXIP1	154398556	1.000000	0.71417	0.911000	0.35937	0.949000	0.60115	3.366000	0.52343	0.879000	0.35944	0.254000	0.18369	GAG		0.522	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		3	44	0	0	0	1	0	3	44				
PRG4	10216	broad.mit.edu	37	1	186273287	186273287	+	Missense_Mutation	SNP	T	T	C	rs150567824		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr1:186273287T>C	ENST00000445192.2	+	5	412	c.367T>C	c.(367-369)Tca>Cca	p.S123P	PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367484.3_Missense_Mutation_p.S82P|PRG4_ENST00000367483.4_Missense_Mutation_p.S82P|PRG4_ENST00000367486.3_Missense_Mutation_p.S123P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	123					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCTCCACCTTCAGGAGCATC	0.408																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(367-369)Tca>Cca		proteoglycan 4		T	,,PRO/SER,PRO/SER	2,4404	4.2+/-10.8	0,2,2201	193.0	166.0	175.0		,,367,244	2.3	0.9	1	dbSNP_134	175	0,8600		0,0,4300	no	intron,intron,missense,missense	PRG4	NM_001127709.1,NM_001127710.1,NM_005807.3,NM_001127708.1	,,74,74	0,2,6501	CC,CT,TT		0.0,0.0454,0.0154	,,benign,benign	,,123/1405,82/1364	186273287	2,13004	2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186273287T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.367T>C	1.37:g.186273287T>C	ENSP00000399679:p.Ser123Pro					PRG4_ENST00000367486.3_Missense_Mutation_p.S123P|PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367484.3_Missense_Mutation_p.S82P|PRG4_ENST00000367483.4_Missense_Mutation_p.S82P	p.S123P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			5	412	+			123					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.367T>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.564253	0.00903	4.54E-4	0.0	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000445192	T;T;T;T	0.05513	3.43;3.5;3.51;3.54	5.38	2.32	0.28847	.	0.315141	0.22734	N	0.056291	T	0.01835	0.0058	N	0.01352	-0.895	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47861	-0.9084	10	0.02654	T	1	-0.0464	9.9125	0.41415	0.0:0.4896:0.4348:0.0757	.	123;82	Q92954;Q92954-2	PRG4_HUMAN;.	P	123;82;82;123	ENSP00000356456:S123P;ENSP00000356454:S82P;ENSP00000356453:S82P;ENSP00000399679:S123P	ENSP00000356453:S82P	S	+	1	0	PRG4	184539910	0.094000	0.21725	0.862000	0.33874	0.061000	0.15899	0.337000	0.19841	0.222000	0.20900	-0.292000	0.09595	TCA		0.408	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		25	70	0	0	0	1	0	25	70				
CDH19	28513	broad.mit.edu	37	18	64176405	64176405	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr18:64176405A>G	ENST00000262150.2	-	11	1947	c.1655T>C	c.(1654-1656)aTt>aCt	p.I552T	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	1827	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATTGTCGGCAATTAAGATGGA	0.428																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(1654-1656)aTt>aCt		cadherin 19, type 2							164.0	148.0	153.0					18																	64176405		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64176405A>G	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1655T>C	18.37:g.64176405A>G	ENSP00000262150:p.Ile552Thr					CDH19_ENST00000540086.1_Intron	p.I552T	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			11	1947	-		Esophageal squamous(42;0.0132)	552			Cadherin 5.		O15098	Missense_Mutation	SNP	ENST00000262150.2	37	c.1655T>C	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.136243	0.77662	.	.	ENSG00000071991	ENST00000262150	T	0.60424	0.19	5.06	5.06	0.68205	Cadherin (4);Cadherin-like (1);	0.190028	0.46145	D	0.000307	T	0.75788	0.3897	M	0.84326	2.69	0.80722	D	1	D	0.61080	0.989	D	0.63192	0.912	T	0.80450	-0.1377	10	0.72032	D	0.01	.	15.1005	0.72273	1.0:0.0:0.0:0.0	.	552	Q9H159	CAD19_HUMAN	T	552	ENSP00000262150:I552T	ENSP00000262150:I552T	I	-	2	0	CDH19	62327385	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	8.672000	0.91181	2.032000	0.59987	0.477000	0.44152	ATT		0.428	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		27	84	0	0	0	1	0	27	84				
ZNF608	57507	broad.mit.edu	37	5	123980089	123980089	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr5:123980089T>A	ENST00000306315.5	-	5	4406	c.3971A>T	c.(3970-3972)gAc>gTc	p.D1324V	ZNF608_ENST00000513985.1_5'Flank|ZNF608_ENST00000504926.1_Missense_Mutation_p.D897V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1324							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCCCCGAGAGTCCTTCCAGTT	0.478																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(3970-3972)gAc>gTc		zinc finger protein 608							240.0	215.0	223.0					5																	123980089		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123980089T>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3971A>T	5.37:g.123980089T>A	ENSP00000307746:p.Asp1324Val					ZNF608_ENST00000504926.1_Missense_Mutation_p.D897V	p.D1324V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	5	4406	-		all_cancers(142;0.186)|Prostate(80;0.081)	1324					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.3971A>T	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.812304	0.70912	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.55052	0.62;0.54	5.76	5.76	0.90799	.	0.104936	0.64402	D	0.000003	T	0.60766	0.2294	L	0.51422	1.61	0.80722	D	1	P	0.44478	0.836	P	0.52343	0.696	T	0.57441	-0.7811	9	.	.	.	-22.6283	16.3611	0.83269	0.0:0.0:0.0:1.0	.	1324	Q9ULD9	ZN608_HUMAN	V	897;1324	ENSP00000427657:D897V;ENSP00000307746:D1324V	.	D	-	2	0	ZNF608	124007988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.890000	0.87313	2.319000	0.78375	0.523000	0.50628	GAC		0.478	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		6	142	0	0	0	1	0	6	142				
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T	rs199843390		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGCATGAACTTACGGAATCT	0.401																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195713385_195713386insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195713387_195713387dupT								NR_003264.2						0	176	-									RNA	INS	ENST00000427841.1	37																																																																																						0.401	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	6						4	6	---	---	---	---
RP5-905H7.3	0	broad.mit.edu	37	7	62701951	62701952	+	RNA	INS	-	-	A			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:62701951_62701952insA	ENST00000451381.1	-	0	55																											CTTTTTTGGAGAAAAAATATAT	0.337																																						ENST00000451381.1																			0																																																			0							g.chr7:62701951_62701952insA																													7.37:g.62701957_62701957dupA														0	55	-									RNA	INS	ENST00000451381.1	37																																																																																						0.337	RP5-905H7.3-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000343675.1			3	3						3	3	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938678	76938679	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:76938678_76938679delTT	ENST00000373344.5	-	9	2283_2284	c.2069_2070delAA	c.(2068-2070)aaafs	p.K690fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K652fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	690					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GAACTGATAGTTTTTGTTTCTC	0.371			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2068-2070)afs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938678_76938679delTT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2069_2070delAA	X.37:g.76938680_76938681delTT	ENSP00000362441:p.Lys690fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.K652fs|ATRX_ENST00000480283.1_5'UTR	p.K690fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2283_2284	-			690					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2069_2070delAA	CCDS14434.1																																																																																				0.371	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		128	99						128	99	---	---	---	---
DACH2	117154	broad.mit.edu	37	X	85404113	85404114	+	Splice_Site	DEL	GT	GT	-			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:85404113_85404114delGT	ENST00000373125.4	+	1	488		c.e1+1		DACH2_ENST00000373131.1_Splice_Site	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2						development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCAATGCCAGGTGAGACACTCG	0.535																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.e1+1		dachshund homolog 2 (Drosophila)																																				SO:0001630	splice_region_variant	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85404113_85404114delGT	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.488+1GT>-	X.37:g.85404113_85404114delGT						DACH2_ENST00000373125.4_Splice_Site		NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			1	651	+								B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Splice_Site	DEL	ENST00000373125.4	37		CCDS14455.1																																																																																				0.535	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	Intron	4	5						4	5	---	---	---	---
