#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
RAP1GDS1	5910	broad.mit.edu	37	4	99339851	99339851	+	Missense_Mutation	SNP	A	A	C			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr4:99339851A>C	ENST00000408927.3	+	10	1196	c.1083A>C	c.(1081-1083)aaA>aaC	p.K361N	RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.K362N|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.K270N|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.K362N|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.K313N|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.K312N	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	361					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTGTAGAAAAACTTATGGATT	0.343			T	NUP98	T-ALL																																	ENST00000408927.3				Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28						c.(1081-1083)aaA>aaC		RAP1, GTP-GDP dissociation stimulator 1							81.0	80.0	80.0					4																	99339851		1859	4100	5959	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99339851A>C		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1083A>C	4.37:g.99339851A>C	ENSP00000386153:p.Lys361Asn					RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.K362N|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.K313N|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.K312N|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.K270N|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.K362N	p.K361N	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	10	1196	+			361					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.1083A>C	CCDS43253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.25|16.25	3.070317|3.070317	0.55539|0.55539	.|.	.|.	ENSG00000138698|ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360|ENST00000509501	T;T;T;T;T;T|.	0.70516|.	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49|.	5.67|5.67	-4.33|-4.33	0.03677|0.03677	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.052524|.	0.64402|.	D|.	0.000001|.	T|T	0.48926|0.48926	0.1527|0.1527	L|L	0.43923|0.43923	1.385|1.385	0.58432|0.58432	D|D	0.999992|0.999992	B;D;D;B;B;B|.	0.61697|.	0.009;0.988;0.99;0.09;0.135;0.064|.	B;P;P;B;B;B|.	0.62491|.	0.022;0.844;0.903;0.072;0.143;0.088|.	T|T	0.46498|0.46498	-0.9187|-0.9187	10|5	0.40728|.	T|.	0.16|.	-1.2847|-1.2847	7.5397|7.5397	0.27731|0.27731	0.3987:0.2154:0.3859:0.0|0.3987:0.2154:0.3859:0.0	.|.	270;312;313;361;362;362|.	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9|.	.;.;.;GDS1_HUMAN;.;.|.	N|P	313;270;361;362;312;362|171	ENSP00000369503:K313N;ENSP00000264572:K270N;ENSP00000386153:K361N;ENSP00000407157:K362N;ENSP00000386223:K312N;ENSP00000340454:K362N|.	ENSP00000264572:K270N|.	K|T	+|+	3|1	2|0	RAP1GDS1|RAP1GDS1	99558874|99558874	0.966000|0.966000	0.33281|0.33281	0.878000|0.878000	0.34440|0.34440	0.996000|0.996000	0.88848|0.88848	0.172000|0.172000	0.16704|0.16704	-0.752000|-0.752000	0.04728|0.04728	0.533000|0.533000	0.62120|0.62120	AAA|ACT		0.343	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		19	37	0	0	0	1	0	19	37				
STRIP1	85369	broad.mit.edu	37	1	110585722	110585722	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:110585722G>A	ENST00000369795.3	+	9	920	c.898G>A	c.(898-900)Ggc>Agc	p.G300S	STRIP1_ENST00000369796.1_Missense_Mutation_p.G205S	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	300					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											CACGCTAGGCGGCTTTGAGGA	0.572																																						ENST00000369795.3																			0											c.(898-900)Ggc>Agc		striatin interacting protein 1							39.0	38.0	38.0					1																	110585722		2203	4299	6502	SO:0001583	missense	85369							g.chr1:110585722G>A	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.898G>A	1.37:g.110585722G>A	ENSP00000358810:p.Gly300Ser					STRIP1_ENST00000369796.1_Missense_Mutation_p.G205S	p.G300S	NM_033088.2	NP_149079.2					9	920	+								Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	c.898G>A	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	G	36	5.699306	0.96802	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.63913	-0.04;-0.07	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.81574	0.4851	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82550	-0.0401	10	0.56958	D	0.05	-28.1725	20.3409	0.98764	0.0:0.0:1.0:0.0	.	205;300	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	S	205;300	ENSP00000358811:G205S;ENSP00000358810:G300S	ENSP00000358810:G300S	G	+	1	0	FAM40A	110387245	1.000000	0.71417	0.973000	0.42090	0.865000	0.49528	9.441000	0.97557	2.814000	0.96858	0.655000	0.94253	GGC		0.572	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		6	10	0	0	0	1	0	6	10				
TRIM54	57159	broad.mit.edu	37	2	27505613	27505613	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:27505613T>G	ENST00000380075.2	+	1	354	c.14T>G	c.(13-15)gTg>gGg	p.V5G	TRIM54_ENST00000296098.4_Missense_Mutation_p.V5G	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	5					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTTCACAGTGGGTTTCAAG	0.592																																						ENST00000296098.4																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(13-15)gTg>gGg		tripartite motif containing 54							161.0	146.0	151.0					2																	27505613		2203	4300	6503	SO:0001583	missense	57159				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	g.chr2:27505613T>G	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.14T>G	2.37:g.27505613T>G	ENSP00000369415:p.Val5Gly					TRIM54_ENST00000380075.2_Missense_Mutation_p.V5G	p.V5G	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN			1	284	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		5					A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	37	c.14T>G	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	T	27.8	4.860865	0.91433	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	T;T	0.42131	1.15;0.98	5.43	5.43	0.79202	.	0.077103	0.52532	D	0.000061	T	0.39091	0.1065	N	0.08118	0	0.80722	D	1	P;D	0.56521	0.885;0.976	P;P	0.59115	0.63;0.852	T	0.40608	-0.9554	10	0.39692	T	0.17	-28.5419	13.4323	0.61062	0.0:0.0:0.0:1.0	.	5;5	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	G	5	ENSP00000369415:V5G;ENSP00000296098:V5G	ENSP00000296098:V5G	V	+	2	0	TRIM54	27359117	1.000000	0.71417	0.996000	0.52242	0.929000	0.56500	3.688000	0.54699	2.053000	0.61076	0.379000	0.24179	GTG		0.592	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841		20	103	0	0	0	1	0	20	103				
FOXO4	4303	broad.mit.edu	37	X	70320668	70320668	+	Silent	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:70320668C>T	ENST00000374259.3	+	2	920	c.588C>T	c.(586-588)gcC>gcT	p.A196A	FOXO4_ENST00000341558.3_Silent_p.A141A	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	196					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					gccgggccgccTCCATGGATA	0.622											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374259.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18						c.(586-588)gcC>gcT		forkhead box O4							16.0	18.0	17.0					X																	70320668		1910	4121	6031	SO:0001819	synonymous_variant	4303				cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:70320668C>T		CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.588C>T	X.37:g.70320668C>T			OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	FOXO4_ENST00000341558.3_Silent_p.A141A	p.A196A	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN			2	920	+	Renal(35;0.156)		196					B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Silent	SNP	ENST00000374259.3	37	c.588C>T	CCDS43969.1																																																																																				0.622	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057115.1	NM_005938		5	12	0	0	0	1	0	5	12				
MGAT4A	11320	broad.mit.edu	37	2	99279513	99279513	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:99279513C>T	ENST00000264968.3	-	4	896	c.533G>A	c.(532-534)gGa>gAa	p.G178E	MGAT4A_ENST00000414521.2_Missense_Mutation_p.G50E|MGAT4A_ENST00000409391.1_Missense_Mutation_p.G178E|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000393487.1_Missense_Mutation_p.G178E			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	178					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AATTACCTCTCCTATGAAGAC	0.294																																						ENST00000393487.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						c.(532-534)gGa>gAa		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A							91.0	101.0	97.0					2																	99279513		2203	4293	6496	SO:0001583	missense	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99279513C>T	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.533G>A	2.37:g.99279513C>T	ENSP00000264968:p.Gly178Glu					MGAT4A_ENST00000264968.2_Missense_Mutation_p.G178E|MGAT4A_ENST00000414521.2_Missense_Mutation_p.G50E|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000409391.1_Missense_Mutation_p.G178E	p.G178E	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN			5	846	-			178					B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	c.533G>A	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404473	0.96051	.	.	ENSG00000071073	ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.71	5.71	0.89125	.	0.095238	0.64402	D	0.000001	T	0.72260	0.3438	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.978	D;D;P	0.97110	1.0;1.0;0.881	T	0.73688	-0.3904	10	0.62326	D	0.03	.	19.2094	0.93748	0.0:1.0:0.0:0.0	.	50;50;178	E9PEN2;B4E2R6;Q9UM21	.;.;MGT4A_HUMAN	E	178;50;178;178	ENSP00000377127:G178E;ENSP00000404889:G50E;ENSP00000264968:G178E;ENSP00000386841:G178E	ENSP00000264968:G178E	G	-	2	0	MGAT4A	98645945	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.039000	0.70972	2.860000	0.98153	0.655000	0.94253	GGA		0.294	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		50	58	0	0	0	1	0	50	58				
NEU2	4759	broad.mit.edu	37	2	233899291	233899291	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:233899291G>A	ENST00000233840.3	+	2	667	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	223					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CCAGGTGGCCGAAGTCGAGAC	0.652																																						ENST00000233840.3																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(667-669)Gaa>Aaa		sialidase 2 (cytosolic sialidase)							53.0	52.0	52.0					2																	233899291		2203	4299	6502	SO:0001583	missense	4759						exo-alpha-sialidase activity	g.chr2:233899291G>A	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.667G>A	2.37:g.233899291G>A	ENSP00000233840:p.Glu223Lys						p.E223K	NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	667	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	223					Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.667G>A	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086410	0.55861	.	.	ENSG00000115488	ENST00000233840	D	0.87650	-2.28	4.91	4.03	0.46877	Neuraminidase (2);	0.000000	0.64402	D	0.000007	D	0.94079	0.8102	M	0.88775	2.98	0.41971	D	0.990755	D	0.89917	1.0	D	0.91635	0.999	D	0.95015	0.8155	10	0.87932	D	0	-16.8092	14.5055	0.67750	0.0:0.1472:0.8528:0.0	.	223	Q9Y3R4	NEUR2_HUMAN	K	223	ENSP00000233840:E223K	ENSP00000233840:E223K	E	+	1	0	NEU2	233607535	0.983000	0.35010	0.016000	0.15963	0.002000	0.02628	3.109000	0.50345	1.040000	0.40099	0.655000	0.94253	GAA		0.652	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		10	41	0	0	0	1	0	10	41				
TF	7018	broad.mit.edu	37	3	133495949	133495949	+	Silent	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr3:133495949G>A	ENST00000402696.3	+	16	2414	c.1929G>A	c.(1927-1929)tcG>tcA	p.S643S	TF_ENST00000264998.3_Silent_p.S516S	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	643	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	TGTTCCGGTCGGAAACCAAGG	0.433																																						ENST00000402696.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1927-1929)tcG>tcA		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						99.0	87.0	91.0					3																	133495949		2203	4300	6503	SO:0001819	synonymous_variant	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133495949G>A		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1929G>A	3.37:g.133495949G>A						TF_ENST00000264998.3_Silent_p.S516S	p.S643S	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN			16	2414	+			643			Transferrin-like 2.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Silent	SNP	ENST00000402696.3	37	c.1929G>A	CCDS3080.1																																																																																				0.433	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		7	49	0	0	0	1	0	7	49				
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:29625905T>C	ENST00000278882.3	+	5	529	c.149T>C	c.(148-150)cTt>cCt	p.L50P	FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	50								p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L50P(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(148-150)cTt>cCt																																						SO:0001583	missense	0							g.chr20:29625905T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.149T>C	20.37:g.29625905T>C	ENSP00000278882:p.Leu50Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P|FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P	p.L50P							5	529	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.149T>C		.	.	.	.	.	.	.	.	.	.	t	10.74	1.434729	0.25813	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56611	0.45	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	55	F5H5R5	.	P	50;55;50	ENSP00000408863:L55P	ENSP00000278882:L50P	L	+	2	0	FRG1B	28239566	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	CTT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	111	0	0	0	1	0	5	111				
FOXS1	2307	broad.mit.edu	37	20	30432875	30432875	+	Silent	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:30432875C>T	ENST00000375978.3	-	1	545	c.471G>A	c.(469-471)gaG>gaA	p.E157E		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	157					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GATCTGGCAGCTCTGGTGGGA	0.687																																						ENST00000375978.3																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(469-471)gaG>gaA		forkhead box S1							23.0	23.0	23.0					20																	30432875		2203	4300	6503	SO:0001819	synonymous_variant	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30432875C>T	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.471G>A	20.37:g.30432875C>T							p.E157E	NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN			1	545	-			157					Q96D28	Silent	SNP	ENST00000375978.3	37	c.471G>A	CCDS13192.1																																																																																				0.687	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		6	19	0	0	0	1	0	6	19				
GGT7	2686	broad.mit.edu	37	20	33439994	33439994	+	Nonsense_Mutation	SNP	C	C	T	rs201339481		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:33439994C>T	ENST00000336431.5	-	12	1595	c.1551G>A	c.(1549-1551)tgG>tgA	p.W517*	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	517					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TCCGGTTGGGCCAGGAGAAGT	0.617																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(1549-1551)tgG>tgA		gamma-glutamyltransferase 7							67.0	62.0	64.0					20																	33439994		2203	4300	6503	SO:0001587	stop_gained	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33439994C>T	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1551G>A	20.37:g.33439994C>T	ENSP00000338964:p.Trp517*					GGT7_ENST00000469018.1_5'UTR	p.W517*	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			12	1595	-			517					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Nonsense_Mutation	SNP	ENST00000336431.5	37	c.1551G>A	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	C	39	7.393903	0.98255	.	.	ENSG00000131067	ENST00000336431	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-8.5717	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	517	.	ENSP00000338964:W517X	W	-	3	0	GGT7	32903655	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.185000	0.77714	2.885000	0.99019	0.655000	0.94253	TGG		0.617	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		8	21	0	0	0	1	0	8	21				
KLHDC9	126823	broad.mit.edu	37	1	161070000	161070000	+	Silent	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:161070000C>T	ENST00000368011.4	+	4	1178	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	KLHDC9_ENST00000490724.2_3'UTR|KLHDC9_ENST00000392192.2_3'UTR|PFDN2_ENST00000468311.1_5'Flank	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	346										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGTTTGCATCCTGGACTTTAT	0.473																																						ENST00000368011.4																			0				lung(5)|upper_aerodigestive_tract(1)	6						c.(1036-1038)Ctg>Ttg		kelch domain containing 9							169.0	151.0	157.0					1																	161070000		2203	4300	6503	SO:0001819	synonymous_variant	126823							g.chr1:161070000C>T	BC022077	CCDS30919.1, CCDS41425.1	1q23.3	2008-02-05			ENSG00000162755	ENSG00000162755			28489	protein-coding gene	gene with protein product	"""kelch/ankyrin repeat containing cyclin A1 interacting protein"""					15159402	Standard	NM_152366		Approved	KARCA1	uc001fxr.3	Q8NEP7	OTTHUMG00000031479	ENST00000368011.4:c.1036C>T	1.37:g.161070000C>T						KLHDC9_ENST00000392192.2_3'UTR|KLHDC9_ENST00000490724.2_3'UTR	p.L346L	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		4	1178	+	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		346					Q5SY56|Q6NXT9|Q6PKN4|Q8N5E1|Q8NA16	Silent	SNP	ENST00000368011.4	37	c.1036C>T	CCDS30919.1																																																																																				0.473	KLHDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077092.1	NM_152366		52	70	0	0	0	1	0	52	70				
TLR7	51284	broad.mit.edu	37	X	12904513	12904513	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:12904513C>T	ENST00000380659.3	+	3	1025	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	296					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AAAAGTTTTACGTCTACACAG	0.418																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(886-888)Cgt>Tgt		toll-like receptor 7	Imiquimod(DB00724)						103.0	104.0	103.0					X																	12904513		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12904513C>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.886C>T	X.37:g.12904513C>T	ENSP00000370034:p.Arg296Cys						p.R296C	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	1025	+			296					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.886C>T	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.788485	0.70337	.	.	ENSG00000196664	ENST00000380659	T	0.57595	0.39	5.65	5.65	0.86999	.	0.067309	0.64402	D	0.000015	T	0.66509	0.2796	L	0.46819	1.47	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.68606	-0.5364	10	0.72032	D	0.01	.	15.1317	0.72530	0.1416:0.8584:0.0:0.0	.	296	Q9NYK1	TLR7_HUMAN	C	296	ENSP00000370034:R296C	ENSP00000370034:R296C	R	+	1	0	TLR7	12814434	1.000000	0.71417	0.976000	0.42696	0.968000	0.65278	3.780000	0.55386	2.366000	0.80165	0.600000	0.82982	CGT		0.418	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		68	59	0	0	0	1	0	68	59				
TRBV4-1	28617	broad.mit.edu	37	7	142013368	142013368	+	RNA	SNP	A	A	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr7:142013368A>G	ENST00000390357.3	+	0	252									T cell receptor beta variable 4-1																		GAAACTCTCTATAAATGAAAG	0.478																																						ENST00000390357.3																			0																				130.0	135.0	133.0					7																	142013368		1922	4135	6057			0							g.chr7:142013368A>G	U07977		7q34	2012-02-07			ENSG00000211710	ENSG00000211710		"""T cell receptors / TRB locus"""	12215	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV41, TCRBV4S1, TCRBV7S1A1N2T, BV07S1J2.7			OTTHUMG00000158522		7.37:g.142013368A>G														0	252	+									RNA	SNP	ENST00000390357.3	37																																																																																						0.478	TRBV4-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351228.2	NG_001333		29	183	0	0	0	1	0	29	183				
KSR1	8844	broad.mit.edu	37	17	25783779	25783779	+	Missense_Mutation	SNP	C	C	A	rs370584036		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr17:25783779C>A	ENST00000319524.6	+	1	110	c.110C>A	c.(109-111)gCg>gAg	p.A37E	KSR1_ENST00000509603.2_Missense_Mutation_p.A37E			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	37					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A37E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCCAGCCGGGCGCTGCAGCAG	0.741																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000319524.6																			2	Substitution - Missense(2)	p.A37E(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(109-111)gCg>gAg		kinase suppressor of ras 1																																				SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25783779C>A	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.110C>A	17.37:g.25783779C>A	ENSP00000323178:p.Ala37Glu					KSR1_ENST00000509603.2_Missense_Mutation_p.A37E	p.A37E			Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	1	110	+	Lung NSC(42;0.00836)		35					F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.110C>A		.	.	.	.	.	.	.	.	.	.	C	29.4	5.000545	0.93227	.	.	ENSG00000141068	ENST00000319524;ENST00000509603	D;T	0.81579	-1.51;-1.49	4.79	3.74	0.42951	.	0.065046	0.64402	D	0.000014	D	0.84982	0.5593	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.86422	0.1755	7	0.87932	D	0	.	11.1476	0.48440	0.1841:0.8159:0.0:0.0	.	.	.	.	E	37	ENSP00000323178:A37E;ENSP00000438795:A37E	ENSP00000323178:A37E	A	+	2	0	KSR1	22807906	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.153000	0.50685	2.366000	0.80165	0.462000	0.41574	GCG		0.741	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		3	7	1	0	6.4e-05	1	6.4e-05	3	7				
SIRPB2	284759	broad.mit.edu	37	20	1460549	1460549	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:1460549C>T	ENST00000359801.3	-	2	283	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000537284.1_Intron	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	76	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTATAAATTTCCTGTTGGTCC	0.463																																						ENST00000359801.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(247-249)Gaa>Aaa		signal-regulatory protein beta 2							131.0	119.0	123.0					20																	1460549		1568	3582	5150	SO:0001583	missense	284759					integral to membrane		g.chr20:1460549C>T	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.247G>A	20.37:g.1460549C>T	ENSP00000352849:p.Glu83Lys					SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000537284.1_Intron	p.E83K	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN			2	283	-			83			Ig-like V-type 1.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.247G>A	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777004	0.49786	.	.	ENSG00000196209	ENST00000359801	T	0.41400	1.0	4.27	4.27	0.50696	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.082090	0.07144	N	0.847810	T	0.61664	0.2365	M	0.61703	1.905	0.80722	D	1	D	0.64830	0.994	D	0.69824	0.966	T	0.46190	-0.9209	10	0.30078	T	0.28	-10.2126	12.3861	0.55333	0.0:1.0:0.0:0.0	.	83	Q5JXA9	SIRB2_HUMAN	K	83	ENSP00000352849:E83K	ENSP00000352849:E83K	E	-	1	0	SIRPB2	1408549	0.894000	0.30519	0.869000	0.34112	0.326000	0.28443	1.373000	0.34272	2.393000	0.81446	0.655000	0.94253	GAA		0.463	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		8	93	0	0	0	1	0	8	93				
GZMA	3001	broad.mit.edu	37	5	54403737	54403737	+	Missense_Mutation	SNP	C	C	T	rs150441571	byFrequency	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr5:54403737C>T	ENST00000274306.6	+	3	366	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	111	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CCCAGCCACACGCGAAGGTGA	0.443													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17112	0.0		0.0	False		,,,				2504	0.0					ENST00000274306.6																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(331-333)Cgc>Tgc		granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)		C	CYS/ARG	7,4399	12.9+/-30.5	0,7,2196	123.0	118.0	120.0		331	2.6	0.0	5	dbSNP_134	120	0,8600		0,0,4300	yes	missense	GZMA	NM_006144.3	180	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	probably-damaging	111/263	54403737	7,12999	2203	4300	6503	SO:0001583	missense	3001				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	g.chr5:54403737C>T		CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"""CTL tryptase"", ""Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"""	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.331C>T	5.37:g.54403737C>T	ENSP00000274306:p.Arg111Cys						p.R111C	NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN			3	366	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	111			Peptidase S1.		A4PHN1|Q6IB36	Missense_Mutation	SNP	ENST00000274306.6	37	c.331C>T	CCDS3965.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218927	0.39201	0.001589	0.0	ENSG00000145649	ENST00000274306	D	0.88664	-2.41	5.5	2.64	0.31445	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.840125	0.11103	N	0.599416	D	0.86393	0.5922	L	0.49778	1.585	0.09310	N	1	D	0.65815	0.995	P	0.48304	0.573	T	0.75508	-0.3293	10	0.40728	T	0.16	.	5.8772	0.18836	0.3972:0.4552:0.0:0.1476	.	111	P12544	GRAA_HUMAN	C	111	ENSP00000274306:R111C	ENSP00000274306:R111C	R	+	1	0	GZMA	54439494	0.000000	0.05858	0.027000	0.17364	0.004000	0.04260	-0.070000	0.11523	0.870000	0.35726	0.655000	0.94253	CGC		0.443	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214100.2	NM_006144		11	92	0	0	0	1	0	11	92				
ZNF292	23036	broad.mit.edu	37	6	87968469	87968469	+	Missense_Mutation	SNP	A	A	T	rs570081208		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr6:87968469A>T	ENST00000369577.3	+	8	5165	c.5122A>T	c.(5122-5124)Acc>Tcc	p.T1708S	ZNF292_ENST00000339907.4_Missense_Mutation_p.T1703S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1708						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAATTTCAAAACCAGTCTTGA	0.328																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(5122-5124)Acc>Tcc		zinc finger protein 292							42.0	41.0	41.0					6																	87968469		1825	4078	5903	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968469A>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5122A>T	6.37:g.87968469A>T	ENSP00000358590:p.Thr1708Ser					ZNF292_ENST00000339907.4_Missense_Mutation_p.T1703S	p.T1708S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5165	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1708					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.5122A>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	A	1.530	-0.544512	0.04024	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08458	3.09;3.1	5.89	2.18	0.27775	.	0.332923	0.27509	N	0.019053	T	0.01287	0.0042	N	0.14661	0.345	0.23186	N	0.998152	B	0.31077	0.307	B	0.27380	0.079	T	0.44421	-0.9329	10	0.52906	T	0.07	.	4.2469	0.10675	0.5894:0.0:0.2636:0.147	.	1708	O60281	ZN292_HUMAN	S	1708;1703	ENSP00000358590:T1708S;ENSP00000342847:T1703S	ENSP00000342847:T1703S	T	+	1	0	ZNF292	88025188	0.898000	0.30612	0.982000	0.44146	0.112000	0.19704	0.968000	0.29357	0.457000	0.26962	0.455000	0.32223	ACC		0.328	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		3	24	0	0	0	1	0	3	24				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	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			28	42	0	0	0	1	0	28	42				
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							92.0	70.0	77.0					21																	11058322		692	1591	2283			85319							g.chr21:11058322C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058322C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	325	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		9	224	0	0	0	1	0	9	224				
NBPF9	400818	broad.mit.edu	37	1	144816613	144816613	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:144816613T>C	ENST00000440491.2	+	5	746	c.746T>C	c.(745-747)gTc>gCc	p.V249A	NBPF9_ENST00000338347.4_Missense_Mutation_p.V249A|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	507	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GAAGACAAAGTCGACTCAACT	0.443																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(745-747)gTc>gCc		neuroblastoma breakpoint family, member 9							123.0	106.0	111.0					1																	144816613		692	1591	2283	SO:0001583	missense	400818							g.chr1:144816613T>C		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.746T>C	1.37:g.144816613T>C	ENSP00000390934:p.Val249Ala					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.V249A|NBPF9_ENST00000281815.8_5'UTR	p.V249A	NM_001037675.2	NP_001032764.1					5	746	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.746T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	6.267|6.267	0.417374|0.417374	0.11870|0.11870	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000440491	.|T;T	.|0.16897	.|2.31;2.31	0.723|0.723	-0.597|-0.597	0.11653|0.11653	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.11024|0.11024	0.0269|0.0269	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|D;B	.|0.54964	.|0.969;0.048	.|P;B	.|0.62298	.|0.9;0.016	T|T	0.09228|0.09228	-1.0684|-1.0684	4|8	.|0.30854	.|T	.|0.27	.|.	2.8955|2.8955	0.05689|0.05689	0.0:0.348:0.0:0.652|0.0:0.348:0.0:0.652	.|.	.|507;247	.|Q3BBV1;A2BGT5	.|NBPFK_HUMAN;.	P|A	248|249	.|ENSP00000342975:V249A;ENSP00000390934:V249A	.|ENSP00000342975:V249A	S|V	+|+	1|2	0|0	NBPF9|NBPF9	143527970|143527970	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.004000|0.004000	0.04260|0.04260	-1.059000|-1.059000	0.03479|0.03479	-0.222000|-0.222000	0.09958|0.09958	0.163000|0.163000	0.16589|0.16589	TCG|GTC		0.443	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		84	152	0	0	0	1	0	84	152				
MYH11	4629	broad.mit.edu	37	16	15870007	15870007	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr16:15870007G>A	ENST00000300036.5	-	8	926	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	MYH11_ENST00000396324.3_Missense_Mutation_p.R280C|MYH11_ENST00000452625.2_Missense_Mutation_p.R280C|MYH11_ENST00000576790.2_Missense_Mutation_p.R273C	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	273	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTGGCTTGGCGAATTGCCCGT	0.488			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(817-819)Cgc>Tgc		myosin, heavy chain 11, smooth muscle							310.0	285.0	293.0					16																	15870007		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15870007G>A	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.817C>T	16.37:g.15870007G>A	ENSP00000300036:p.Arg273Cys					MYH11_ENST00000576790.1_Missense_Mutation_p.R273C|MYH11_ENST00000396324.3_Missense_Mutation_p.R280C|MYH11_ENST00000452625.2_Missense_Mutation_p.R280C|MYH11_ENST00000300036.5_Missense_Mutation_p.R273C	p.R273C	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			8	923	-			273			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.817C>T	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021167	0.75275	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	5.91	5.91	0.95273	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95245	0.8458	M	0.92880	3.355	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.999;0.998;0.999;0.965	D;D;D;D;D	0.75484	0.986;0.966;0.925;0.966;0.969	D	0.95387	0.8478	10	0.59425	D	0.04	.	18.8584	0.92262	0.0:0.0:1.0:0.0	.	280;273;280;273;280	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	C	273;273;280;280;280	ENSP00000300036:R273C;ENSP00000345136:R273C;ENSP00000379616:R280C;ENSP00000407821:R280C	ENSP00000300036:R273C	R	-	1	0	MYH11	15777508	1.000000	0.71417	0.981000	0.43875	0.539000	0.34962	3.495000	0.53280	2.804000	0.96469	0.462000	0.41574	CGC		0.488	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		14	209	0	0	0	1	0	14	209				
HCK	3055	broad.mit.edu	37	20	30676404	30676404	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:30676404G>A	ENST00000520553.1	+	10	1232	c.986G>A	c.(985-987)gGc>gAc	p.G329D	HCK_ENST00000375852.2_Missense_Mutation_p.G350D|HCK_ENST00000534862.1_Missense_Mutation_p.G330D|HCK_ENST00000518730.1_Missense_Mutation_p.G328D|HCK_ENST00000538448.1_Missense_Mutation_p.G329D|HCK_ENST00000375862.2_Missense_Mutation_p.G349D	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	350	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	AGTGATGAGGGCAGCAAGCAG	0.438																																						ENST00000534862.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(988-990)gGc>gAc		hemopoietic cell kinase							75.0	76.0	75.0					20																	30676404		2203	4300	6503	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30676404G>A	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.986G>A	20.37:g.30676404G>A	ENSP00000429848:p.Gly329Asp					HCK_ENST00000520553.1_Missense_Mutation_p.G329D|HCK_ENST00000518730.1_Missense_Mutation_p.G328D|HCK_ENST00000538448.1_Missense_Mutation_p.G329D|HCK_ENST00000375862.2_Missense_Mutation_p.G349D|HCK_ENST00000375852.2_Missense_Mutation_p.G350D	p.G330D	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		11	1352	+			350			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.989G>A	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872094	0.91587	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75	4.55	4.55	0.56014	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.25344	0.0616	L	0.41124	1.26	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.81914	0.991;0.995	T	0.01356	-1.1376	10	0.87932	D	0	.	16.4614	0.84056	0.0:0.0:1.0:0.0	.	328;350	P08631-3;P08631	.;HCK_HUMAN	D	330;329;349;329;328;350	ENSP00000444986:G330D;ENSP00000441169:G329D;ENSP00000365022:G349D;ENSP00000429848:G329D;ENSP00000427757:G328D;ENSP00000365012:G350D	ENSP00000365012:G350D	G	+	2	0	HCK	30140065	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.675000	0.84002	2.368000	0.80403	0.549000	0.68633	GGC		0.438	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			14	35	0	0	0	1	0	14	35				
DNAH7	56171	broad.mit.edu	37	2	196738409	196738409	+	Missense_Mutation	SNP	C	C	T	rs373086090		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:196738409C>T	ENST00000312428.6	-	39	6396	c.6296G>A	c.(6295-6297)cGa>cAa	p.R2099Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2099	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TACTGGATTTCGACCACCACC	0.274																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(6295-6297)cGa>cAa		dynein, axonemal, heavy chain 7		C	GLN/ARG	1,3619		0,1,1809	64.0	62.0	63.0		6296	4.8	1.0	2		63	0,8138		0,0,4069	no	missense	DNAH7	NM_018897.2	43	0,1,5878	TT,TC,CC		0.0,0.0276,0.0085	probably-damaging	2099/4025	196738409	1,11757	1810	4069	5879	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196738409C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6296G>A	2.37:g.196738409C>T	ENSP00000311273:p.Arg2099Gln						p.R2099Q	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			39	6396	-			2099			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6296G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124498	0.94429	2.76E-4	0.0	ENSG00000118997	ENST00000312428	T	0.35236	1.32	4.81	4.81	0.61882	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.71888	0.3393	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.81351	-0.0972	10	0.72032	D	0.01	.	18.0221	0.89258	0.0:1.0:0.0:0.0	.	2099	Q8WXX0	DYH7_HUMAN	Q	2099	ENSP00000311273:R2099Q	ENSP00000311273:R2099Q	R	-	2	0	DNAH7	196446654	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.444000	0.80532	2.646000	0.89796	0.585000	0.79938	CGA		0.274	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		9	29	0	0	0	1	0	9	29				
KBTBD8	84541	broad.mit.edu	37	3	67054666	67054666	+	Silent	SNP	C	C	T	rs183048924	byFrequency	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr3:67054666C>T	ENST00000417314.2	+	3	1324	c.1275C>T	c.(1273-1275)tgC>tgT	p.C425C	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Silent_p.C399C			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	425						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CGACTGTTTGCGCGATGCCAG	0.413													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20296	0.001		0.0	False		,,,				2504	0.0					ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1195-1197)tgC>tgT		kelch repeat and BTB (POZ) domain containing 8							190.0	176.0	181.0					3																	67054666		2203	4300	6503	SO:0001819	synonymous_variant	84541							g.chr3:67054666C>T	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1275C>T	3.37:g.67054666C>T						KBTBD8_ENST00000417314.2_Silent_p.C425C|KBTBD8_ENST00000460576.1_Intron	p.C399C	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	3	1328	+		Lung NSC(201;0.0765)	425					B4DTW6|Q96JI5	Silent	SNP	ENST00000417314.2	37	c.1197C>T	CCDS2906.2																																																																																				0.413	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		6	205	0	0	0	1	0	6	205				
SEZ6L2	26470	broad.mit.edu	37	16	29907101	29907101	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr16:29907101C>G	ENST00000308713.5	-	4	1119	c.592G>C	c.(592-594)Ggg>Cgg	p.G198R	SEZ6L2_ENST00000562159.1_Intron|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G128R|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G154R|SEZ6L2_ENST00000346932.5_Intron	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	198	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCAGGAGCCCCAGGGTGCGG	0.547																																						ENST00000308713.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(592-594)Ggg>Cgg		seizure related 6 homolog (mouse)-like 2							66.0	67.0	67.0					16																	29907101		2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29907101C>G	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.592G>C	16.37:g.29907101C>G	ENSP00000312550:p.Gly198Arg					SEZ6L2_ENST00000562159.1_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G154R|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G128R	p.G198R	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN			4	1119	-			198			CUB 1.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.592G>C	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.605960	0.66445	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000537485	T;T;T	0.60920	0.15;0.15;0.15	5.69	5.69	0.88448	CUB (5);	0.114873	0.39210	N	0.001421	T	0.68943	0.3056	L	0.40543	1.245	0.26873	N	0.967705	D;D;D;D;D	0.76494	0.991;0.999;0.998;0.999;0.998	D;D;D;D;D	0.72982	0.923;0.979;0.965;0.979;0.965	T	0.61973	-0.6952	10	0.36615	T	0.2	.	18.5897	0.91206	0.0:1.0:0.0:0.0	.	154;198;128;198;128	F5H293;B7Z5L4;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;SE6L2_HUMAN;.	R	128;198;154	ENSP00000310206:G128R;ENSP00000312550:G198R;ENSP00000439412:G154R	ENSP00000312550:G198R	G	-	1	0	SEZ6L2	29814602	0.347000	0.24853	0.867000	0.34043	0.541000	0.35023	3.414000	0.52693	2.700000	0.92200	0.561000	0.74099	GGG		0.547	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		26	41	0	0	0	1	0	26	41				
GUSBP1	728411	broad.mit.edu	37	5	21497235	21497235	+	RNA	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr5:21497235C>T	ENST00000607545.1	+	0	179					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										AGTTTGAGAACTGGTGTAAGA	0.488																																						ENST00000607545.1																			0																																																			0							g.chr5:21497235C>T	BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21497235C>T								NR_027026.1						0	179	+								A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	SNP	ENST00000607545.1	37																																																																																						0.488	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1	NG_008324		4	25	0	0	0	1	0	4	25				
RALGAPB	57148	broad.mit.edu	37	20	37174929	37174929	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:37174929G>T	ENST00000262879.6	+	19	3042	c.2758G>T	c.(2758-2760)Gcc>Tcc	p.A920S	RALGAPB_ENST00000397038.1_Missense_Mutation_p.A698S|RALGAPB_ENST00000397042.3_Missense_Mutation_p.A916S|RALGAPB_ENST00000397040.1_Missense_Mutation_p.A920S			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	920					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TAGTGGTCCTGCCTCTCCTTG	0.418																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(2758-2760)Gcc>Tcc		Ral GTPase activating protein, beta subunit (non-catalytic)							125.0	113.0	117.0					20																	37174929		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37174929G>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.2758G>T	20.37:g.37174929G>T	ENSP00000262879:p.Ala920Ser					RALGAPB_ENST00000397042.3_Missense_Mutation_p.A916S|RALGAPB_ENST00000397040.1_Missense_Mutation_p.A920S|RALGAPB_ENST00000397038.1_Missense_Mutation_p.A698S	p.A920S			Q86X10	RLGPB_HUMAN			19	3042	+			920					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.2758G>T	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738040	0.49045	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	4.92	4.92	0.64577	.	0.055011	0.64402	D	0.000001	T	0.52125	0.1715	L	0.31065	0.9	0.80722	D	1	B;B;B;B	0.26483	0.06;0.017;0.15;0.15	B;B;B;B	0.20577	0.019;0.015;0.03;0.03	T	0.50398	-0.8833	9	0.41790	T	0.15	.	18.1076	0.89525	0.0:0.0:1.0:0.0	.	748;920;916;920	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	S	920;916;920;698;920;748	.	ENSP00000262879:A920S	A	+	1	0	RALGAPB	36608343	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.242000	0.72376	2.287000	0.76781	0.313000	0.20887	GCC		0.418	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		18	80	1	0	3.32936e-07	1	3.38881e-07	18	80				
TP53	7157	broad.mit.edu	37	17	7578400	7578400	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr17:7578400G>C	ENST00000269305.4	-	5	719	c.530C>G	c.(529-531)cCc>cGc	p.P177R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.P177R|TP53_ENST00000420246.2_Missense_Mutation_p.P177R|TP53_ENST00000413465.2_Missense_Mutation_p.P177R|TP53_ENST00000445888.2_Missense_Mutation_p.P177R|TP53_ENST00000359597.4_Missense_Mutation_p.P177R	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	177	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(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)	CTCATGGTGGGGGCAGCGCCT	0.647		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"""		92	Substitution - Missense(41)|Deletion - In frame(20)|Deletion - Frameshift(20)|Whole gene deletion(8)|Complex - deletion inframe(3)	p.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(1)	large_intestine(15)|breast(12)|upper_aerodigestive_tract(10)|skin(8)|ovary(8)|haematopoietic_and_lymphoid_tissue(7)|stomach(5)|central_nervous_system(5)|lung(4)|liver(4)|oesophagus(4)|bone(4)|pancreas(3)|prostate(3)	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.(529-531)cCc>cGc	Other conserved DNA damage response genes	tumor protein p53							48.0	48.0	48.0					17																	7578400		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578400G>C	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.530C>G	17.37:g.7578400G>C	ENSP00000269305:p.Pro177Arg	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_ENST00000455263.2_Missense_Mutation_p.P177R|TP53_ENST00000445888.2_Missense_Mutation_p.P177R|TP53_ENST00000269305.4_Missense_Mutation_p.P177R|TP53_ENST00000413465.2_Missense_Mutation_p.P177R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.P177R	p.P177R	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)	5	662	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	177		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.530C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535580	0.85812	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052869	0.85682	N	0.000000	D	0.99894	0.9949	M	0.90082	3.085	0.80722	D	1	D;D;D;D;P;D;D	0.89917	0.999;0.962;0.974;1.0;0.882;0.97;0.998	D;P;P;D;P;P;D	0.87578	0.99;0.79;0.86;0.998;0.78;0.867;0.978	D	0.96047	0.9028	10	0.87932	D	0	-24.4396	14.492	0.67657	0.0:0.1481:0.8519:0.0	.	138;177;177;84;177;177;177	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	177;177;177;177;177;177;166;84;45;84;45	ENSP00000410739:P177R;ENSP00000352610:P177R;ENSP00000269305:P177R;ENSP00000398846:P177R;ENSP00000391127:P177R;ENSP00000391478:P177R;ENSP00000425104:P45R;ENSP00000423862:P84R	ENSP00000269305:P177R	P	-	2	0	TP53	7519125	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.813000	0.99286	1.475000	0.48197	0.655000	0.94253	CCC		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	12	0	0	0	1	0	26	12				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	56	0	0	0	1	0	3	56				
ADCY9	115	broad.mit.edu	37	16	4165239	4165239	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr16:4165239C>T	ENST00000294016.3	-	2	743	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	69					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGCCTCCGCCGCCCACTCGC	0.672																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(205-207)Ggc>Agc		adenylate cyclase 9							33.0	31.0	32.0					16																	4165239		2196	4299	6495	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4165239C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.205G>A	16.37:g.4165239C>T	ENSP00000294016:p.Gly69Ser						p.G69S	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	743	-			69					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.205G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	3.885	-0.025185	0.07589	.	.	ENSG00000162104	ENST00000294016	T	0.26373	1.74	5.04	4.09	0.47781	.	0.437004	0.23803	N	0.044408	T	0.12902	0.0313	N	0.12182	0.205	0.19945	N	0.999949	B	0.12013	0.005	B	0.08055	0.003	T	0.25187	-1.0139	10	0.09843	T	0.71	.	11.7019	0.51575	0.0:0.9148:0.0:0.0852	.	69	O60503	ADCY9_HUMAN	S	69	ENSP00000294016:G69S	ENSP00000294016:G69S	G	-	1	0	ADCY9	4105240	0.024000	0.19004	0.197000	0.23402	0.639000	0.38242	2.878000	0.48515	1.132000	0.42129	-0.464000	0.05259	GGC		0.672	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			4	22	0	0	0	1	0	4	22				
ZNF366	167465	broad.mit.edu	37	5	71756905	71756905	+	Missense_Mutation	SNP	C	C	T	rs367714370		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr5:71756905C>T	ENST00000318442.5	-	2	909	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	140					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.R140H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTCCAGGCTGCGGTAGAATTG	0.632																																						ENST00000318442.5																			1	Substitution - Missense(1)	p.R140H(1)	lung(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(418-420)cGc>cAc		zinc finger protein 366		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	113.0	127.0	122.0		419	5.9	1.0	5		122	1,8599	2.2+/-6.3	0,1,4299	no	missense	ZNF366	NM_152625.1	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	140/745	71756905	2,13004	2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756905C>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.419G>A	5.37:g.71756905C>T	ENSP00000313158:p.Arg140His						p.R140H	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	909	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	140					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.419G>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788533	0.70337	2.27E-4	1.16E-4	ENSG00000178175	ENST00000318442	T	0.51071	0.72	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000003	T	0.39009	0.1062	L	0.34521	1.04	0.47341	D	0.999397	B	0.34329	0.449	B	0.22601	0.04	T	0.24297	-1.0164	10	0.51188	T	0.08	-61.9515	20.3207	0.98668	0.0:1.0:0.0:0.0	.	140	Q8N895	ZN366_HUMAN	H	140	ENSP00000313158:R140H	ENSP00000313158:R140H	R	-	2	0	ZNF366	71792661	0.998000	0.40836	0.997000	0.53966	0.780000	0.44128	2.672000	0.46850	2.813000	0.96785	0.561000	0.74099	CGC		0.632	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			54	88	0	0	0	1	0	54	88				
OPN1MW2	728458	broad.mit.edu	37	X	153496081	153496081	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:153496081T>G	ENST00000369929.4	+	5	869	c.809T>G	c.(808-810)gTg>gGg	p.V270G	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive 2	270					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGCGCATGGTGGTGGTGATG	0.572																																						ENST00000369929.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6						c.(808-810)gTg>gGg		opsin 1 (cone pigments), medium-wave-sensitive 2							227.0	151.0	178.0					X																	153496081		2107	3828	5935	SO:0001583	missense	728458							g.chrX:153496081T>G		CCDS35447.1	Xq28	2012-08-08			ENSG00000166160	ENSG00000166160		"""GPCR / Class A : Opsin receptors"""	26952	protein-coding gene	gene with protein product							Standard	NM_001048181		Approved			P04001	OTTHUMG00000024231	ENST00000369929.4:c.809T>G	X.37:g.153496081T>G	ENSP00000358945:p.Val270Gly					OPN1MW2_ENST00000488220.1_3'UTR	p.V270G	NM_001048181.2	NP_001041646.1					5	869	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)								Missense_Mutation	SNP	ENST00000369929.4	37	c.809T>G	CCDS35447.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.116991	0.56505	.	.	ENSG00000166160	ENST00000369929	T	0.41758	0.99	2.81	2.81	0.32909	.	0.000000	0.85682	D	0.000000	T	0.51449	0.1675	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54569	-0.8274	7	0.87932	D	0	.	9.4522	0.38734	0.0:0.0:0.0:1.0	.	.	.	.	G	270	ENSP00000358945:V270G	ENSP00000358945:V270G	V	+	2	0	OPN1MW2	153149275	1.000000	0.71417	0.995000	0.50966	0.692000	0.40212	7.675000	0.84002	1.028000	0.39785	0.331000	0.21540	GTG		0.572	OPN1MW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061149.2	NM_001048181		17	21	0	0	0	1	0	17	21				
SH2D3A	10045	broad.mit.edu	37	19	6754940	6754940	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr19:6754940G>A	ENST00000245908.6	-	5	1152	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	SH2D3A_ENST00000437152.3_Missense_Mutation_p.R173W|SH2D3A_ENST00000599563.1_5'Flank	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	295					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TCCAGGGGCCGATTCTGGGGG	0.592																																						ENST00000245908.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						c.(883-885)Cgg>Tgg		SH2 domain containing 3A							86.0	105.0	99.0					19																	6754940		2203	4300	6503	SO:0001583	missense	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6754940G>A	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.883C>T	19.37:g.6754940G>A	ENSP00000245908:p.Arg295Trp					SH2D3A_ENST00000437152.3_Missense_Mutation_p.R173W	p.R295W	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN			5	1152	-			295					A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	ENST00000245908.6	37	c.883C>T	CCDS12173.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595632	0.66219	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.29917	1.55;1.55	4.79	3.73	0.42828	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.38272	N	0.001751	T	0.49508	0.1561	M	0.62723	1.935	0.33900	D	0.638339	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.989	T	0.63655	-0.6588	10	0.87932	D	0	-21.8767	10.1402	0.42730	0.0:0.0:0.6368:0.3632	.	173;295	B4DRS7;Q9BRG2	.;SH23A_HUMAN	W	295;173	ENSP00000245908:R295W;ENSP00000393303:R173W	ENSP00000245908:R295W	R	-	1	2	SH2D3A	6705940	0.998000	0.40836	1.000000	0.80357	0.848000	0.48234	1.531000	0.36018	0.967000	0.38186	0.462000	0.41574	CGG		0.592	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		27	136	0	0	0	1	0	27	136				
EP400	57634	broad.mit.edu	37	12	132549242	132549242	+	Silent	SNP	A	A	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr12:132549242A>G	ENST00000333577.4	+	49	8581	c.8472A>G	c.(8470-8472)aaA>aaG	p.K2824K	EP400_ENST00000389562.2_Silent_p.K2787K|EP400_ENST00000389561.2_Silent_p.K2788K|EP400_ENST00000332482.4_Silent_p.K2751K|EP400_ENST00000330386.6_Silent_p.K2707K			Q96L91	EP400_HUMAN	E1A binding protein p400	2824					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGAAGCAGAAACTGCAGATGC	0.542																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8470-8472)aaA>aaG		E1A binding protein p400							37.0	49.0	45.0					12																	132549242		2202	4300	6502	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132549242A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8472A>G	12.37:g.132549242A>G						EP400_ENST00000330386.6_Silent_p.K2707K|EP400_ENST00000332482.4_Silent_p.K2751K|EP400_ENST00000389562.2_Silent_p.K2787K|EP400_ENST00000389561.2_Silent_p.K2788K	p.K2824K			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	49	8581	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2824					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8472A>G																																																																																					0.542	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		9	78	0	0	0	1	0	9	78				
PABPC4	8761	broad.mit.edu	37	1	40027846	40027846	+	Missense_Mutation	SNP	T	T	C	rs141368472		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:40027846T>C	ENST00000372857.3	-	14	2536	c.1744A>G	c.(1744-1746)Atg>Gtg	p.M582V	RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372856.3_Missense_Mutation_p.M569V|PABPC4_ENST00000372858.3_Missense_Mutation_p.M598V|PABPC4_ENST00000372862.3_Missense_Mutation_p.M553V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	582	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)	p.M582V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTGAATGCATTGTTTGGATG	0.473																																						ENST00000372857.3																			1	Substitution - Missense(1)	p.M582V(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21						c.(1744-1746)Atg>Gtg		poly(A) binding protein, cytoplasmic 4 (inducible form)		T	VAL/MET,VAL/MET,VAL/MET	1,4405	2.1+/-5.4	0,1,2202	63.0	61.0	62.0		1792,1705,1744	5.4	1.0	1	dbSNP_134	62	0,8600		0,0,4300	no	missense,missense,missense	PABPC4	NM_001135653.1,NM_001135654.1,NM_003819.3	21,21,21	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	598/661,569/632,582/645	40027846	1,13005	2203	4300	6503	SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40027846T>C	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1744A>G	1.37:g.40027846T>C	ENSP00000361948:p.Met582Val					PABPC4_ENST00000372858.3_Missense_Mutation_p.M598V|PABPC4_ENST00000372862.3_Missense_Mutation_p.M553V|PABPC4_ENST00000372856.3_Missense_Mutation_p.M569V	p.M582V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		14	2536	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	582			PABC.		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	ENST00000372857.3	37	c.1744A>G	CCDS438.1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.891122	0.52014	2.27E-4	0.0	ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.42	5.42	0.78866	Polyadenylate-binding protein/Hyperplastic disc protein (5);	0.035410	0.85682	D	0.000000	T	0.41213	0.1149	L	0.49256	1.55	0.58432	D	0.999997	B;B;B	0.14805	0.001;0.0;0.011	B;B;B	0.20577	0.018;0.01;0.03	T	0.24905	-1.0147	10	0.49607	T	0.09	.	15.4506	0.75271	0.0:0.0:0.0:1.0	.	582;569;598	Q13310;Q13310-2;Q4VC03	PABP4_HUMAN;.;.	V	553;598;582;569	ENSP00000361953:M553V;ENSP00000361949:M598V;ENSP00000361948:M582V;ENSP00000361947:M569V	ENSP00000361947:M569V	M	-	1	0	PABPC4	39800433	1.000000	0.71417	0.986000	0.45419	0.986000	0.74619	8.040000	0.89188	2.055000	0.61198	0.533000	0.62120	ATG		0.473	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		25	35	0	0	0	1	0	25	35				
DNAH12	201625	broad.mit.edu	37	3	57489762	57489762	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr3:57489762C>T	ENST00000351747.2	-	9	1247	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	DNAH12_ENST00000311202.6_Missense_Mutation_p.R356Q|DNAH12_ENST00000389536.4_Missense_Mutation_p.R356Q	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	356	Stem. {ECO:0000250}.				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)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTCGGCTATTCGTTCCACCAA	0.338																																						ENST00000351747.2																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						c.(1066-1068)cGa>cAa		dynein, axonemal, heavy chain 12							99.0	97.0	98.0					3																	57489762		2203	4300	6503	SO:0001583	missense	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57489762C>T	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.1067G>A	3.37:g.57489762C>T	ENSP00000295937:p.Arg356Gln					DNAH12_ENST00000389536.4_Missense_Mutation_p.R356Q|DNAH12_ENST00000311202.6_Missense_Mutation_p.R356Q	p.R356Q	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN			9	1247	-			356			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37	c.1067G>A		.	.	.	.	.	.	.	.	.	.	c	1.458	-0.563144	0.03939	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.20881	2.19;2.04;3.71;3.18	5.39	4.52	0.55395	.	0.504438	0.19250	N	0.118944	T	0.14917	0.0360	L	0.56769	1.78	0.09310	N	1	P;P	0.48089	0.747;0.905	B;B	0.35039	0.093;0.194	T	0.18116	-1.0347	10	0.19147	T	0.46	.	5.8869	0.18886	0.1402:0.6511:0.1355:0.0732	.	356;356	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	Q	356	ENSP00000295937:R356Q;ENSP00000418137:R356Q;ENSP00000374187:R356Q;ENSP00000312554:R356Q	ENSP00000312554:R356Q	R	-	2	0	DNAH12	57464802	0.180000	0.23148	0.829000	0.32907	0.038000	0.13279	0.780000	0.26760	1.294000	0.44707	-0.119000	0.15052	CGA		0.338	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		22	33	0	0	0	1	0	22	33				
COL2A1	1280	broad.mit.edu	37	12	48372074	48372074	+	Splice_Site	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr12:48372074C>T	ENST00000380518.3	-	43	3167	c.3003G>A	c.(3001-3003)tcG>tcA	p.S1001S	COL2A1_ENST00000337299.6_Splice_Site_p.S932S|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1001	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCACACTCACCGACGGGCCAG	0.642																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.e43+1		collagen, type II, alpha 1	Collagenase(DB00048)						122.0	74.0	90.0					12																	48372074		2203	4300	6503	SO:0001630	splice_region_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48372074C>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3003+1G>A	12.37:g.48372074C>T						COL2A1_ENST00000337299.6_Splice_Site_p.S932_splice|COL2A1_ENST00000493991.1_5'UTR	p.S1001_splice	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			43	3167	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	1001			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Splice_Site	SNP	ENST00000380518.3	37	c.3003_splice	CCDS41778.1																																																																																				0.642	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844	Silent	6	20	0	0	0	1	0	6	20				
DFFA	1676	broad.mit.edu	37	1	10523191	10523191	+	Missense_Mutation	SNP	G	G	A	rs142954972	byFrequency	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:10523191G>A	ENST00000377038.3	-	5	774	c.707C>T	c.(706-708)gCg>gTg	p.A236V	DFFA_ENST00000377036.2_Missense_Mutation_p.A236V	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	236					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GCTCGCCAGCGCAACGTCCGA	0.562																																						ENST00000377038.3																			0				large_intestine(3)|lung(2)	5						c.(706-708)gCg>gTg		DNA fragmentation factor, 45kDa, alpha polypeptide		G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	105.0	77.0	86.0		707,707	4.1	0.0	1	dbSNP_134	86	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense	DFFA	NM_004401.2,NM_213566.1	64,64	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	benign,benign	236/332,236/269	10523191	8,12998	2203	4300	6503	SO:0001583	missense	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10523191G>A	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.707C>T	1.37:g.10523191G>A	ENSP00000366237:p.Ala236Val					DFFA_ENST00000377036.2_Missense_Mutation_p.A236V	p.A236V	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	5	774	-	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	236					Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	c.707C>T	CCDS118.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139501	0.37728	0.0	9.3E-4	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.06	4.14	0.48551	DNA fragmentation factor 45kDa, C-terminal (3);	0.815874	0.11656	N	0.542341	T	0.26774	0.0655	L	0.43152	1.355	0.09310	N	1	P;B	0.39601	0.68;0.133	B;B	0.27887	0.084;0.031	T	0.06716	-1.0811	9	0.39692	T	0.17	0.0079	10.8462	0.46744	0.0897:0.0:0.9103:0.0	.	236;236	O00273-2;O00273	.;DFFA_HUMAN	V	236	.	ENSP00000366235:A236V	A	-	2	0	DFFA	10445778	0.048000	0.20356	0.001000	0.08648	0.013000	0.08279	2.009000	0.40903	1.098000	0.41479	0.650000	0.86243	GCG		0.562	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401		3	30	0	0	0	1	0	3	30				
AUTS2	26053	broad.mit.edu	37	7	69364410	69364410	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr7:69364410T>G	ENST00000342771.4	+	2	769	c.448T>G	c.(448-450)Tca>Gca	p.S150A	AUTS2_ENST00000406775.2_Missense_Mutation_p.S150A|AUTS2_ENST00000403018.2_Missense_Mutation_p.S150A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	150										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCACTACAGCTCAGATCGAGA	0.512																																						ENST00000342771.4																			0				breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50						c.(448-450)Tca>Gca		autism susceptibility candidate 2							126.0	121.0	123.0					7																	69364410		2203	4300	6503	SO:0001583	missense	26053							g.chr7:69364410T>G	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.448T>G	7.37:g.69364410T>G	ENSP00000344087:p.Ser150Ala					AUTS2_ENST00000406775.2_Missense_Mutation_p.S150A|AUTS2_ENST00000403018.2_Missense_Mutation_p.S150A	p.S150A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	2	769	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	150					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	c.448T>G	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.716147	0.68844	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000403018	T;T	0.36878	1.25;1.23	5.65	5.65	0.86999	.	0.000000	0.48767	D	0.000164	T	0.52208	0.1720	L	0.43923	1.385	0.26175	N	0.979815	D;D;D	0.67145	0.99;0.99;0.996	D;D;D	0.76071	0.979;0.979;0.987	T	0.46665	-0.9175	9	.	.	.	-8.7033	16.0399	0.80667	0.0:0.0:0.0:1.0	.	150;150;150	Q8WXX7-2;Q8WXX7;Q6PJU5	.;AUTS2_HUMAN;.	A	150	ENSP00000385263:S150A;ENSP00000344087:S150A	.	S	+	1	0	AUTS2	69002346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.383000	0.66219	2.371000	0.80710	0.533000	0.62120	TCA		0.512	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			48	96	0	0	0	1	0	48	96				
PLEC	5339	broad.mit.edu	37	8	144992998	144992998	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr8:144992998T>C	ENST00000322810.4	-	32	11571	c.11402A>G	c.(11401-11403)aAc>aGc	p.N3801S	PLEC_ENST00000354958.2_Missense_Mutation_p.N3642S|PLEC_ENST00000357649.2_Missense_Mutation_p.N3668S|PLEC_ENST00000356346.3_Missense_Mutation_p.N3650S|PLEC_ENST00000345136.3_Missense_Mutation_p.N3664S|PLEC_ENST00000398774.2_Missense_Mutation_p.N3632S|PLEC_ENST00000527096.1_Missense_Mutation_p.N3687S|PLEC_ENST00000354589.3_Missense_Mutation_p.N3664S|PLEC_ENST00000436759.2_Missense_Mutation_p.N3691S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3801	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGGAGCAGGTTGTAGGTCTC	0.657																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(11401-11403)aAc>aGc		plectin							34.0	40.0	38.0					8																	144992998		2010	4159	6169	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144992998T>C	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11402A>G	8.37:g.144992998T>C	ENSP00000323856:p.Asn3801Ser					PLEC_ENST00000436759.2_Missense_Mutation_p.N3691S|PLEC_ENST00000354589.3_Missense_Mutation_p.N3664S|PLEC_ENST00000398774.2_Missense_Mutation_p.N3632S|PLEC_ENST00000354958.2_Missense_Mutation_p.N3642S|PLEC_ENST00000527096.1_Missense_Mutation_p.N3687S|PLEC_ENST00000345136.3_Missense_Mutation_p.N3664S|PLEC_ENST00000357649.2_Missense_Mutation_p.N3668S|PLEC_ENST00000356346.3_Missense_Mutation_p.N3650S	p.N3801S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	11571	-			3801			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.11402A>G	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460107	0.26248	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	4.25	1.7	0.24286	.	0.081077	0.47093	N	0.000254	T	0.60392	0.2265	M	0.65498	2.005	0.39526	D	0.968589	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001	T	0.55140	-0.8187	10	0.40728	T	0.16	.	9.5558	0.39337	0.0:0.1089:0.0:0.8911	.	3691;3650;3642;3801;3632;3664;3668;3664	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	S	3664;3668;3664;3632;3801;3642;3650;3691;3687	ENSP00000344848:N3664S;ENSP00000350277:N3668S;ENSP00000346602:N3664S;ENSP00000381756:N3632S;ENSP00000323856:N3801S;ENSP00000347044:N3642S;ENSP00000348702:N3650S;ENSP00000388180:N3691S;ENSP00000434583:N3687S	ENSP00000323856:N3801S	N	-	2	0	PLEC	145064986	1.000000	0.71417	0.940000	0.37924	0.948000	0.59901	1.617000	0.36943	0.154000	0.19237	0.368000	0.22195	AAC		0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	53	0	0	0	1	0	4	53				
GREB1	9687	broad.mit.edu	37	2	11716615	11716615	+	Silent	SNP	A	A	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:11716615A>G	ENST00000381486.2	+	5	891	c.591A>G	c.(589-591)gcA>gcG	p.A197A	GREB1_ENST00000381483.2_Silent_p.A197A|GREB1_ENST00000263834.5_Silent_p.A197A|GREB1_ENST00000389825.3_Silent_p.A87A|GREB1_ENST00000234142.5_Silent_p.A197A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	197						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCCGTAATGCACAAGGGACTC	0.488																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(589-591)gcA>gcG		growth regulation by estrogen in breast cancer 1							123.0	117.0	119.0					2																	11716615		2203	4300	6503	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11716615A>G		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.591A>G	2.37:g.11716615A>G						GREB1_ENST00000234142.5_Silent_p.A197A|GREB1_ENST00000263834.5_Silent_p.A197A|GREB1_ENST00000389825.3_Silent_p.A87A|GREB1_ENST00000381483.2_Silent_p.A197A	p.A197A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	5	891	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		197					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.591A>G	CCDS42655.1																																																																																				0.488	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		30	65	0	0	0	1	0	30	65				
ANO3	63982	broad.mit.edu	37	11	26569051	26569051	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr11:26569051T>C	ENST00000256737.3	+	12	2095	c.1243T>C	c.(1243-1245)Tgc>Cgc	p.C415R	ANO3_ENST00000531568.1_Missense_Mutation_p.C269R|ANO3_ENST00000537978.1_Missense_Mutation_p.C399R|ANO3_ENST00000525139.1_Missense_Mutation_p.C399R|ANO3_ENST00000529242.1_3'UTR	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	415					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGTTGGTTTGTGCGTTTTCTT	0.368																																						ENST00000256737.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1243-1245)Tgc>Cgc		anoctamin 3							323.0	290.0	301.0					11																	26569051		2203	4300	6503	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26569051T>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1243T>C	11.37:g.26569051T>C	ENSP00000256737:p.Cys415Arg					ANO3_ENST00000531568.1_Missense_Mutation_p.C269R|ANO3_ENST00000525139.1_Missense_Mutation_p.C399R|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000537978.1_Missense_Mutation_p.C399R	p.C415R	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN			12	2095	+			415					B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.1243T>C	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958914	0.53400	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.59	5.59	0.84812	.	0.101626	0.64402	D	0.000002	T	0.58337	0.2115	N	0.19112	0.55	0.58432	D	0.999995	P;P	0.48589	0.666;0.912	P;P	0.49887	0.522;0.625	T	0.64884	-0.6302	10	0.87932	D	0	.	15.7528	0.78001	0.0:0.0:0.0:1.0	.	317;415	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	R	399;399;415;317;269	ENSP00000440737:C399R;ENSP00000432576:C399R;ENSP00000256737:C415R;ENSP00000432394:C269R	ENSP00000256737:C415R	C	+	1	0	ANO3	26525627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.062000	0.57492	2.115000	0.64714	0.477000	0.44152	TGC		0.368	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		29	172	0	0	0	1	0	29	172				
OTUD6A	139562	broad.mit.edu	37	X	69282578	69282578	+	Silent	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:69282578C>T	ENST00000338352.2	+	1	238	c.204C>T	c.(202-204)gaC>gaT	p.D68D		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	68					protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGTTCCAAGACGACAGTAGCA	0.547																																						ENST00000338352.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						c.(202-204)gaC>gaT		OTU domain containing 6A							31.0	29.0	30.0					X																	69282578		2203	4300	6503	SO:0001819	synonymous_variant	139562							g.chrX:69282578C>T	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.204C>T	X.37:g.69282578C>T							p.D68D	NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN			1	238	+			68					B2RPB7	Silent	SNP	ENST00000338352.2	37	c.204C>T	CCDS14395.1																																																																																				0.547	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320		3	17	0	0	0	1	0	3	17				
MYH7	4625	broad.mit.edu	37	14	23886878	23886878	+	Missense_Mutation	SNP	C	C	T	rs370069461		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr14:23886878C>T	ENST00000355349.3	-	31	4349	c.4187G>A	c.(4186-4188)cGg>cAg	p.R1396Q	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	1396					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)		TTCCTGCAGCCGCTGGGCCAG	0.587																																						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.(4186-4188)cGg>cAg		myosin, heavy chain 7, cardiac muscle, beta		C	GLN/ARG	0,4406		0,0,2203	40.0	41.0	41.0		4187	5.0	1.0	14		41	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH7	NM_000257.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1396/1936	23886878	1,13005	2203	4300	6503	SO:0001583	missense	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.chr14:23886878C>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.4187G>A	14.37:g.23886878C>T	ENSP00000347507:p.Arg1396Gln						p.R1396Q	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	31	4349	-	all_cancers(95;2.54e-05)		1396					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4187G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761597	0.89932	0.0	1.16E-4	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.79454	-1.27	4.99	4.99	0.66335	Myosin tail (1);	.	.	.	.	D	0.90494	0.7022	H	0.94264	3.515	0.58432	D	0.999998	D	0.63880	0.993	P	0.60236	0.871	D	0.93132	0.6534	9	0.87932	D	0	.	18.4709	0.90774	0.0:1.0:0.0:0.0	.	1396	P12883	MYH7_HUMAN	Q	1396;1401	ENSP00000347507:R1396Q	ENSP00000347507:R1396Q	R	-	2	0	MYH7	22956718	1.000000	0.71417	0.971000	0.41717	0.508000	0.34012	7.373000	0.79623	2.609000	0.88269	0.561000	0.74099	CGG		0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		8	33	0	0	0	1	0	8	33				
VWF	7450	broad.mit.edu	37	12	6128017	6128017	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr12:6128017C>T	ENST00000261405.5	-	28	4821	c.4567G>A	c.(4567-4569)Gag>Aag	p.E1523K		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1523	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGAATCACCTCCTCCATGAAC	0.557																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(4567-4569)Gag>Aag		von Willebrand factor	Antihemophilic Factor(DB00025)						32.0	34.0	33.0					12																	6128017		2203	4297	6500	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6128017C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4567G>A	12.37:g.6128017C>T	ENSP00000261405:p.Glu1523Lys						p.E1523K	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			28	4821	-			1523			VWFA 2.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.4567G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	11.92	1.782805	0.31502	.	.	ENSG00000110799	ENST00000261405	D	0.82803	-1.65	4.88	1.82	0.25136	von Willebrand factor, type A (3);	0.325858	0.22393	N	0.060644	D	0.82337	0.5015	L	0.55103	1.725	0.80722	D	1	B	0.31054	0.306	P	0.48524	0.58	T	0.73496	-0.3964	10	0.27082	T	0.32	.	4.3522	0.11160	0.0:0.3473:0.3794:0.2733	.	1523	P04275	VWF_HUMAN	K	1523	ENSP00000261405:E1523K	ENSP00000261405:E1523K	E	-	1	0	VWF	5998278	0.139000	0.22563	0.996000	0.52242	0.960000	0.62799	0.187000	0.16998	0.627000	0.30340	0.555000	0.69702	GAG		0.557	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		6	29	0	0	0	1	0	6	29				
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-	rs144663569		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		9	80						9	80	---	---	---	---
H3F3A	3020	broad.mit.edu	37	1	226252070	226252070	+	Silent	SNP	G	G	A			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:226252070G>A	ENST00000366813.1	+	1	393	c.18G>A	c.(16-18)caG>caA	p.Q6Q	H3F3A_ENST00000366816.1_Silent_p.Q6Q|H3F3A_ENST00000366815.3_Silent_p.Q6Q|RP11-396C23.4_ENST00000609423.1_RNA|H3F3A_ENST00000366814.3_Silent_p.Q6Q			P84243	H33_HUMAN	H3 histone, family 3A	6					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		GTACAAAGCAGACTGCCCGCA	0.488			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000366814.3				Dom	yes		1	1q42.12	3020	Mis	"""H3 histone, family 3A"""			O			glioma		0				central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123						c.(16-18)caG>caA		H3 histone, family 3A							31.0	33.0	32.0					1																	226252070		2202	4298	6500	SO:0001819	synonymous_variant	3020							g.chr1:226252070G>A	BC029405	CCDS1550.1	1q42.12	2011-01-27			ENSG00000163041	ENSG00000163041		"""Histones / Replication-independent"""	4764	protein-coding gene	gene with protein product		601128		H3F3		3031613	Standard	NM_002107		Approved	H3.3A	uc001hpw.3	P84243	OTTHUMG00000037507	ENST00000366813.1:c.18G>A	1.37:g.226252070G>A			OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2311	H3F3A_ENST00000366816.1_Silent_p.Q6Q|H3F3A_ENST00000366815.3_Silent_p.Q6Q|H3F3A_ENST00000366813.1_Silent_p.Q6Q	p.Q6Q						GBM - Glioblastoma multiforme(131;0.203)	2	139	+	Breast(184;0.179)							P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Silent	SNP	ENST00000366813.1	37	c.18G>A	CCDS1550.1																																																																																				0.488	H3F3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091324.1	NM_002107		6	28	0	0	0	1	0	6	28				
CRIPAK	285464	broad.mit.edu	37	4	1389382	1389382	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr4:1389382delC	ENST00000324803.4	+	1	4043	c.1083delC	c.(1081-1083)tgcfs	p.C361fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	361					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			ATGTGGAGTGCCCGCCTGCTC	0.667																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1081-1083)tgfs		cysteine-rich PAK1 inhibitor							171.0	174.0	173.0					4																	1389382		2203	4299	6502	SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389382delC	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1083delC	4.37:g.1389382delC	ENSP00000323978:p.Cys361fs						p.C361fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	4043	+			361					Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	c.1083delC	CCDS3349.1																																																																																				0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		7	253						7	253	---	---	---	---
AHI1	54806	broad.mit.edu	37	6	135784396	135784399	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr6:135784396_135784399delTTCT	ENST00000367800.4	-	6	1011_1014	c.795_798delAGAA	c.(793-798)aaagaafs	p.KE265fs	AHI1_ENST00000457866.2_Frame_Shift_Del_p.KE265fs|AHI1_ENST00000327035.6_Frame_Shift_Del_p.KE265fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	265	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TAACTGAAGATTCTTTCTTTTGTT	0.328																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(793-798)aafs		Abelson helper integration site 1																																				SO:0001589	frameshift_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135784396_135784399delTTCT	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.795_798delAGAA	6.37:g.135784400_135784403delTTCT	ENSP00000356774:p.Lys265fs					AHI1_ENST00000327035.6_Frame_Shift_Del_p.KE265fs|AHI1_ENST00000457866.2_Frame_Shift_Del_p.KE265fs	p.KE265fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	6	1011_1014	-	Breast(56;0.239)|Colorectal(23;0.24)		265					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Frame_Shift_Del	DEL	ENST00000367800.4	37	c.795_798delAGAA	CCDS47483.1																																																																																				0.328	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		11	87						11	87	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131241029	131241030	+	In_Frame_Ins	INS	-	-	GGCGAC	rs11277659|rs547816245|rs532078953|rs79759078|rs571821675	byFrequency	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr7:131241029_131241030insGGCGAC	ENST00000378555.3	-	1	336_337	c.89_90insGTCGCC	c.(88-90)ccc>ccGTCGCCc	p.30_30P>PSP	PODXL_ENST00000537928.1_In_Frame_Ins_p.30_30P>PSP|PODXL_ENST00000541194.1_In_Frame_Ins_p.30_30P>PSP|PODXL_ENST00000322985.9_In_Frame_Ins_p.30_30P>PSP|PODXL_ENST00000465001.1_Intron			O00592	PODXL_HUMAN	podocalyxin-like	30					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTGGGAGggcgacggcga	0.752																																						ENST00000541194.1																			2	Deletion - In frame(2)	p.P30_S31delPS(2)	prostate(2)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(88-90)ctc>cGTCGCCtc		podocalyxin-like																																				SO:0001652	inframe_insertion	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131241029_131241030insGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89dupGTCGCC	7.37:g.131241030_131241035dupGGCGAC	ENSP00000367817:p.SerPro30dup					PODXL_ENST00000537928.1_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000378555.3_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000322985.9_In_Frame_Ins_p.29_30insRR	p.29_30insRR	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			1	346_347	-	Melanoma(18;0.162)		29					A6NHX8|Q52LZ7|Q53ER6	In_Frame_Ins	INS	ENST00000378555.3	37	c.89_90insGTCGCC	CCDS34755.1																																																																																				0.752	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		4	8						4	8	---	---	---	---
TRBV6-8	28599	broad.mit.edu	37	7	142124496	142124497	+	RNA	INS	-	-	G			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr7:142124496_142124497insG	ENST00000390376.2	-	0	49									T cell receptor beta variable 6-8																		AATCCACGCAAGGGCCCTGCCC	0.614																																						ENST00000390376.2																			0																																																			0							g.chr7:142124496_142124497insG	L36092		7q34	2012-02-07			ENSG00000253534	ENSG00000253534		"""T cell receptors / TRB locus"""	12233	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV68, TCRBV13S7P, TCRBV6S8			OTTHUMG00000158916		7.37:g.142124499_142124499dupG														0	49	-									RNA	INS	ENST00000390376.2	37																																																																																						0.614	TRBV6-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352531.2	NG_001333		9	110						9	110	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79244208	79244208	+	Splice_Site	DEL	T	T	-	rs370679936		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr9:79244208delT	ENST00000376718.3	-	16	9174		c.e16-2		PRUNE2_ENST00000223609.6_Splice_Site|PRUNE2_ENST00000443509.2_Splice_Site|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000428286.1_Splice_Site	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)						apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AATTTTGAACTAAAAAAAAAA	0.333																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.e16-2		prune homolog 2 (Drosophila)							27.0	26.0	26.0					9																	79244208		1568	3581	5149	SO:0001630	splice_region_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79244208delT	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.9051-2A>-	9.37:g.79244208delT						PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000443509.2_Splice_Site|PRUNE2_ENST00000376718.3_Splice_Site|PRUNE2_ENST00000223609.6_Splice_Site				Q8WUY3	PRUN2_HUMAN			16	9177	-								B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Splice_Site	DEL	ENST00000376718.3	37		CCDS47982.1																																																																																				0.333	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	Intron	2	4						2	4	---	---	---	---
IDI1	3422	broad.mit.edu	37	10	1089303	1089305	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr10:1089303_1089305delAAG	ENST00000381344.3	-	3	508_510	c.342_344delCTT	c.(340-345)ttctta>tta	p.F114del	IDI2-AS1_ENST00000437374.1_RNA|RNU7-163P_ENST00000459467.1_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	57	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isoprenoid biosynthetic process (GO:0008299)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		GGTGTTGAATAAGAAGACACTAA	0.34																																						ENST00000381344.3																			0				large_intestine(3)|lung(2)|prostate(1)	6						c.(340-345)tta>tt		isopentenyl-diphosphate delta isomerase 1				0,4264		0,0,2132						-3.4	0.9			93	1,8253		0,1,4126	no	coding	IDI1	NM_004508.2		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001651	inframe_deletion	3422				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1089303_1089305delAAG	BC006999	CCDS7056.1	10p15.3	2003-11-12	2005-07-25		ENSG00000067064	ENSG00000067064	5.3.3.2		5387	protein-coding gene	gene with protein product	"""IPP isomerase"""	604055	"""isopentenyl-diphosphate delta isomerase"""			8020941	Standard	NM_004508		Approved		uc001iga.3	Q13907	OTTHUMG00000017536	ENST00000381344.3:c.342_344delCTT	10.37:g.1089306_1089308delAAG	ENSP00000370748:p.Phe114del					IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000536039.1_RNA	p.FL114del	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)	3	508_510	-		all_epithelial(10;0.107)|Colorectal(49;0.14)	57			Nudix hydrolase.		B4E155|Q32Q13|Q53GQ6|Q86U81|Q8WUX8|Q96IZ4|Q9BQ74	In_Frame_Del	DEL	ENST00000381344.3	37	c.342_344delCTT	CCDS7056.1																																																																																				0.340	IDI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046409.2	NM_004508		9	73						9	73	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(868-873)agc>a		ubiquilin 3																																				SO:0001651	inframe_deletion	50613							g.chr11:5529918_5529920delTGG	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.869_871delCCA	11.37:g.5529927_5529929delTGG	ENSP00000347997:p.Thr290del					HBG2_ENST00000380259.2_Intron	p.TS290del	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1016_1018	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	290		T -> S (in dbSNP:rs2234451).			Q9NRE0	In_Frame_Del	DEL	ENST00000311659.4	37	c.869_871delCCA	CCDS7758.1																																																																																				0.537	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		8	107						8	107	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49440465	49440466	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr12:49440465_49440466delCA	ENST00000301067.7	-	15	4343_4344	c.4344_4345delTG	c.(4342-4347)tgtgatfs	p.CD1448fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1448	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TAGCTAATATCACAGTCATCAC	0.584																																						ENST00000301067.7																			0											c.(4342-4347)tgatfs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49440465_49440466delCA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4344_4345delTG	12.37:g.49440467_49440468delCA	ENSP00000301067:p.Cys1448fs						p.CD1448fs	NM_003482.3	NP_003473.3					15	4343_4344	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.4344_4345delTG	CCDS44873.1																																																																																				0.584	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			17	67						17	67	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)tccdel	p.S1468del	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(4390-4392)del		signal-induced proliferation-associated 1 like 1																																				SO:0001651	inframe_deletion	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72190482_72190484delTCC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4390_4392delTCC	14.37:g.72190491_72190493delTCC	ENSP00000450832:p.Ser1468del					SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del	p.S1468del	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	16	4738_4740	+			1468			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	In_Frame_Del	DEL	ENST00000555818.1	37	c.4390_4392delTCC	CCDS9807.1																																																																																				0.552	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		7	169						7	169	---	---	---	---
VSX2	338917	broad.mit.edu	37	14	74727463	74727463	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr14:74727463delC	ENST00000261980.2	+	5	1017	c.927delC	c.(925-927)ctcfs	p.L309fs		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	309					cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		TTGCGGTGCTCCGGGCCAAAG	0.662																																						ENST00000261980.2																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(925-927)ctfs		visual system homeobox 2							18.0	20.0	19.0					14																	74727463		2193	4288	6481	SO:0001589	frameshift_variant	338917				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:74727463delC	AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"""Homeoboxes / PRD class"""	1975	protein-coding gene	gene with protein product		142993	"""C elegans ceh-10 homeo domain-containing homolog"", ""ceh-10 homeo domain containing homolog (C. elegans)"", ""ceh-10 homeodomain containing homolog (C. elegans)"""	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.927delC	14.37:g.74727463delC	ENSP00000261980:p.Leu309fs						p.L309fs	NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00154)	5	1017	+			309					A1A4X6	Frame_Shift_Del	DEL	ENST00000261980.2	37	c.927delC	CCDS9827.1																																																																																				0.662	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412323.1	NM_182894		2	4						2	4	---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21064202	21064202	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr22:21064202delA	ENST00000572273.1	-	53	6223	c.5993delT	c.(5992-5994)ctcfs	p.L1999fs	PI4KA_ENST00000255882.6_Frame_Shift_Del_p.L2057fs|PI4KA_ENST00000414196.3_Frame_Shift_Del_p.L809fs			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1999	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTACTTCAAGAGCTTGATTGT	0.552																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(6166-6168)ccfs		phosphatidylinositol 4-kinase, catalytic, alpha							76.0	62.0	67.0					22																	21064202		2203	4298	6501	SO:0001589	frameshift_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21064202delA	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5993delT	22.37:g.21064202delA	ENSP00000458238:p.Leu1999fs					PI4KA_ENST00000414196.3_Frame_Shift_Del_p.L809fs|PI4KA_ENST00000572273.1_Frame_Shift_Del_p.L1999fs	p.L2057fs	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		53	6253	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1999					Q7Z625|Q9UPG2	Frame_Shift_Del	DEL	ENST00000572273.1	37	c.6167delT																																																																																					0.552	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		12	37						12	37	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76937833	76937836	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:76937833_76937836delTCTT	ENST00000373344.5	-	9	3126_3129	c.2912_2915delAAGA	c.(2911-2916)aaagacfs	p.KD971fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KD933fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	971					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						ATCGCTCTGGTCTTTCTTTAGGAA	0.324			"""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.(2911-2916)acfs		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:76937833_76937836delTCTT	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.2912_2915delAAGA	X.37:g.76937837_76937840delTCTT	ENSP00000362441:p.Lys971fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KD933fs	p.KD971fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	3126_3129	-			971					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2912_2915delAAGA	CCDS14434.1																																																																																				0.324	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		100	129						100	129	---	---	---	---
