#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
ZNF443	10224	broad.mit.edu	37	19	12542283	12542283	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:12542283A>G	ENST00000301547.5	-	4	900	c.703T>C	c.(703-705)Tct>Cct	p.S235P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	235					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CTGTAAAAAGAAAAGGCTTTA	0.378																																						ENST00000301547.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						c.(703-705)Tct>Cct		zinc finger protein 443							126.0	131.0	129.0					19																	12542283		2203	4297	6500	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12542283A>G	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.703T>C	19.37:g.12542283A>G	ENSP00000301547:p.Ser235Pro					CTD-3105H18.16_ENST00000595562.1_Intron	p.S235P	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN			4	900	-			235						Missense_Mutation	SNP	ENST00000301547.5	37	c.703T>C	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	A	9.982	1.228421	0.22542	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	T	0.07688	3.17	1.14	-2.27	0.06846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	L	0.43701	1.375	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.37957	-0.9683	9	0.38643	T	0.18	.	0.917	0.01307	0.1632:0.1613:0.3196:0.3559	.	235	Q9Y2A4	ZN443_HUMAN	P	235	ENSP00000301547:S235P	ENSP00000301547:S235P	S	-	1	0	ZNF443	12403283	0.000000	0.05858	0.001000	0.08648	0.618000	0.37518	-1.539000	0.02202	-2.594000	0.00455	-1.868000	0.00555	TCT		0.378	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		3	200	0	0	0	1	0	3	200				
P2RY12	64805	broad.mit.edu	37	3	151055882	151055882	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:151055882G>A	ENST00000302632.3	-	3	1051	c.752C>T	c.(751-753)cCt>cTt	p.P251L	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	251					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	AAAATGGAAAGGAACAAAACA	0.428																																						ENST00000302632.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17						c.(751-753)cCt>cTt		purinergic receptor P2Y, G-protein coupled, 12	Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)						72.0	74.0	73.0					3																	151055882		2203	4300	6503	SO:0001583	missense	0				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr3:151055882G>A	AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.752C>T	3.37:g.151055882G>A	ENSP00000307259:p.Pro251Leu					MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	p.P251L	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1051	-			251					D3DNJ5|Q546J7	Missense_Mutation	SNP	ENST00000302632.3	37	c.752C>T	CCDS3159.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812003	0.90707	.	.	ENSG00000169313	ENST00000302632;ENST00000455408	T	0.79845	-1.31	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92289	0.7554	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93390	0.6751	10	0.87932	D	0	-14.8285	19.7236	0.96153	0.0:0.0:1.0:0.0	.	251	Q9H244	P2Y12_HUMAN	L	251;154	ENSP00000307259:P251L	ENSP00000307259:P251L	P	-	2	0	P2RY12	152538572	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.388000	0.97237	2.730000	0.93505	0.655000	0.94253	CCT		0.428	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357796.1			3	34	0	0	0	1	0	3	34				
TP53	7157	broad.mit.edu	37	17	7579314	7579314	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr17:7579314T>G	ENST00000269305.4	-	4	562	c.373A>C	c.(373-375)Acg>Ccg	p.T125P	TP53_ENST00000455263.2_Missense_Mutation_p.T125P|TP53_ENST00000413465.2_Missense_Mutation_p.T125P|TP53_ENST00000359597.4_Missense_Mutation_p.T125P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.T125P|TP53_ENST00000445888.2_Missense_Mutation_p.T125P	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	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.T125P(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.T125fs*45(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAACTGACCGTGCAAGTCACA	0.547		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"""		24	Deletion - Frameshift(9)|Whole gene deletion(8)|Substitution - Missense(5)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.0?(8)|p.T125P(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.T125fs*45(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.S33fs*23(1)	lung(6)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|breast(2)|large_intestine(1)|stomach(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(373-375)Acg>Ccg	Other conserved DNA damage response genes	tumor protein p53							66.0	61.0	63.0					17																	7579314		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.chr17:7579314T>G	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.373A>C	17.37:g.7579314T>G	ENSP00000269305:p.Thr125Pro	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.T125P|TP53_ENST00000269305.4_Missense_Mutation_p.T125P|TP53_ENST00000445888.2_Missense_Mutation_p.T125P|TP53_ENST00000413465.2_Missense_Mutation_p.T125P|TP53_ENST00000359597.4_Missense_Mutation_p.T125P	p.T125P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	505	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	125		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.373A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467962	0.84533	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.994;1.0;0.998;1.0	D;D;D;D;D;D;D	0.87578	0.998;0.996;0.998;0.977;0.998;0.998;0.998	D	0.96840	0.9617	10	0.66056	D	0.02	-16.188	12.5363	0.56144	0.0:0.0:0.0:1.0	.	86;125;125;125;125;125;125	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	125;125;125;125;125;125;114;125;125	ENSP00000410739:T125P;ENSP00000352610:T125P;ENSP00000269305:T125P;ENSP00000398846:T125P;ENSP00000391127:T125P;ENSP00000391478:T125P;ENSP00000424104:T125P;ENSP00000426252:T125P	ENSP00000269305:T125P	T	-	1	0	TP53	7520039	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.383000	0.73172	2.125000	0.65367	0.533000	0.62120	ACG		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		39	43	0	0	0	1	0	39	43				
TMEFF2	23671	broad.mit.edu	37	2	192922465	192922465	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:192922465G>T	ENST00000272771.5	-	5	1660	c.476C>A	c.(475-477)aCa>aAa	p.T159K	TMEFF2_ENST00000392314.1_Missense_Mutation_p.T159K	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	159						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ACAGGTGGATGTCTCCTTTTG	0.388																																					Pancreas(50;1277 1381 28487 47072)	ENST00000392314.1																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(475-477)aCa>aAa		transmembrane protein with EGF-like and two follistatin-like domains 2							124.0	111.0	116.0					2																	192922465		2203	4300	6503	SO:0001583	missense	23671					extracellular region|integral to membrane		g.chr2:192922465G>T	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.476C>A	2.37:g.192922465G>T	ENSP00000272771:p.Thr159Lys					TMEFF2_ENST00000272771.5_Missense_Mutation_p.T159K	p.T159K			Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		5	867	-			159					Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	c.476C>A	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183507	0.78677	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	T;T	0.12255	2.7;2.7	4.93	4.93	0.64822	.	0.057117	0.64402	D	0.000001	T	0.14141	0.0342	N	0.19112	0.55	0.80722	D	1	D	0.55605	0.972	P	0.50136	0.632	T	0.09907	-1.0653	10	0.10636	T	0.68	-12.2039	18.7107	0.91655	0.0:0.0:1.0:0.0	.	159	Q9UIK5	TEFF2_HUMAN	K	159	ENSP00000376128:T159K;ENSP00000272771:T159K	ENSP00000272771:T159K	T	-	2	0	TMEFF2	192630710	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.570000	0.90748	2.713000	0.92767	0.655000	0.94253	ACA		0.388	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		32	91	1	0	7.53189e-24	1	7.76727e-24	32	91				
DMC1	11144	broad.mit.edu	37	22	38935415	38935415	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr22:38935415C>T	ENST00000216024.2	-	9	773	c.497G>A	c.(496-498)cGt>cAt	p.R166H	DMC1_ENST00000428462.2_Intron	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	166					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					GCGATCTGGACGGCTGGAGTA	0.403								Homologous recombination																														ENST00000216024.2																			0				large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(496-498)cGt>cAt	Homologous recombination	DNA meiotic recombinase 1							131.0	111.0	118.0					22																	38935415		2203	4300	6503	SO:0001583	missense	11144				reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr22:38935415C>T	D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"""DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"""			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.497G>A	22.37:g.38935415C>T	ENSP00000216024:p.Arg166His					DMC1_ENST00000428462.2_Intron	p.R166H	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN			9	773	-	Melanoma(58;0.0286)		166					A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Missense_Mutation	SNP	ENST00000216024.2	37	c.497G>A	CCDS13973.1	.	.	.	.	.	.	.	.	.	.	C	34	5.396926	0.96009	.	.	ENSG00000100206	ENST00000216024	T	0.59224	0.28	5.51	5.51	0.81932	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82678	0.5089	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86671	0.1910	10	0.87932	D	0	-8.385	19.4131	0.94683	0.0:1.0:0.0:0.0	.	166	Q14565	DMC1_HUMAN	H	166	ENSP00000216024:R166H	ENSP00000216024:R166H	R	-	2	0	DMC1	37265361	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.584000	0.82572	2.588000	0.87417	0.591000	0.81541	CGT		0.403	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321246.2	NM_007068		35	46	0	0	0	1	0	35	46				
H3F3A	3020	broad.mit.edu	37	1	226252155	226252155	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:226252155G>A	ENST00000366813.1	+	1	478	c.103G>A	c.(103-105)Ggg>Agg	p.G35R	H3F3A_ENST00000366814.3_Missense_Mutation_p.G35R|H3F3A_ENST00000366815.3_Missense_Mutation_p.G35R|H3F3A_ENST00000366816.1_Missense_Mutation_p.G35R|RP11-396C23.4_ENST00000609423.1_RNA			P84243	H33_HUMAN	H3 histone, family 3A	35					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)	p.G35R(11)		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)		CTCTACTGGAGGGGTGAAGAA	0.458			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		11	Substitution - Missense(11)	p.G35R(11)	central_nervous_system(11)	central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123						c.(103-105)Ggg>Agg		H3 histone, family 3A							30.0	32.0	32.0					1																	226252155		2199	4299	6498	SO:0001583	missense	3020							g.chr1:226252155G>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.103G>A	1.37:g.226252155G>A	ENSP00000355778:p.Gly35Arg		OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2311	H3F3A_ENST00000366813.1_Missense_Mutation_p.G35R|H3F3A_ENST00000366816.1_Missense_Mutation_p.G35R|H3F3A_ENST00000366815.3_Missense_Mutation_p.G35R	p.G35R						GBM - Glioblastoma multiforme(131;0.203)	2	224	+	Breast(184;0.179)							P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000366813.1	37	c.103G>A	CCDS1550.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274656	0.59649	.	.	ENSG00000163041	ENST00000366816;ENST00000366815;ENST00000366814;ENST00000366813	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.32	4.32	0.51571	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.53932	0.1827	.	.	.	0.58432	D	0.999999	P;P	0.52577	0.954;0.954	P;P	0.47470	0.532;0.548	T	0.63523	-0.6618	9	0.87932	D	0	.	16.7598	0.85509	0.0:0.0:1.0:0.0	.	35;35	B4DEB1;P84243	.;H33_HUMAN	R	35	ENSP00000355781:G35R;ENSP00000355780:G35R;ENSP00000355779:G35R;ENSP00000355778:G35R	ENSP00000355778:G35R	G	+	1	0	H3F3A	224318778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.606000	0.98325	2.106000	0.64143	0.655000	0.94253	GGG		0.458	H3F3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091324.1	NM_002107		14	21	0	0	0	1	0	14	21				
FSTL5	56884	broad.mit.edu	37	4	162697149	162697149	+	Nonsense_Mutation	SNP	G	G	A	rs200762823		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:162697149G>A	ENST00000306100.5	-	5	923	c.487C>T	c.(487-489)Caa>Taa	p.Q163*	FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Q162*|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Q162*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Q162*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	163						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCATTTTCTTGCATAATATAT	0.308																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(487-489)Caa>Taa		follistatin-like 5							71.0	70.0	70.0					4																	162697149		2201	4295	6496	SO:0001587	stop_gained	56884					extracellular region	calcium ion binding	g.chr4:162697149G>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.487C>T	4.37:g.162697149G>A	ENSP00000305334:p.Gln163*					FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Q162*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Q162*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Q162*	p.Q163*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	5	923	-	all_hematologic(180;0.24)		163					E9PCP6|Q9NSW7|Q9ULF7	Nonsense_Mutation	SNP	ENST00000306100.5	37	c.487C>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	40	7.937057	0.98571	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	.	.	.	5.3	5.3	0.74995	.	0.306761	0.36932	N	0.002322	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	13.2955	0.60294	0.0:0.0:0.8418:0.1582	.	.	.	.	X	163;162;162;162	.	ENSP00000305334:Q163X	Q	-	1	0	FSTL5	162916599	0.997000	0.39634	0.975000	0.42487	0.982000	0.71751	1.302000	0.33459	2.625000	0.88918	0.650000	0.86243	CAA		0.308	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		12	19	0	0	0	1	0	12	19				
LRRC49	54839	broad.mit.edu	37	15	71300791	71300791	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr15:71300791G>A	ENST00000260382.5	+	12	1503	c.1243G>A	c.(1243-1245)Ggg>Agg	p.G415R	LRRC49_ENST00000443425.2_Missense_Mutation_p.G371R|LRRC49_ENST00000544974.2_Missense_Mutation_p.G405R|LRRC49_ENST00000560691.1_Missense_Mutation_p.G121R|LRRC49_ENST00000560369.1_Missense_Mutation_p.G420R|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Missense_Mutation_p.G103R	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	415						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TGAAGTGGACGGGGATACACT	0.418																																						ENST00000260382.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(1243-1245)Ggg>Agg		leucine rich repeat containing 49							97.0	87.0	90.0					15																	71300791		2199	4297	6496	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71300791G>A		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1243G>A	15.37:g.71300791G>A	ENSP00000260382:p.Gly415Arg					LRRC49_ENST00000544974.2_Missense_Mutation_p.G405R|LRRC49_ENST00000560369.1_Missense_Mutation_p.G420R|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Missense_Mutation_p.G103R|LRRC49_ENST00000560691.1_Missense_Mutation_p.G121R|LRRC49_ENST00000443425.2_Missense_Mutation_p.G371R	p.G415R	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			12	1503	+			415					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1243G>A	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186711	0.78789	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.54479	0.6;0.62;0.57	5.45	5.45	0.79879	.	0.058183	0.64402	D	0.000002	T	0.72061	0.3414	M	0.71036	2.16	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.991;0.998;0.998;0.996;0.998	T	0.73672	-0.3909	10	0.56958	D	0.05	-15.7151	16.7765	0.85552	0.0:0.0:1.0:0.0	.	420;387;371;415;405	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	R	405;415;371;387	ENSP00000439600:G405R;ENSP00000260382:G415R;ENSP00000414065:G371R	ENSP00000260382:G415R	G	+	1	0	LRRC49	69087845	1.000000	0.71417	0.701000	0.30321	0.595000	0.36748	8.561000	0.90715	2.538000	0.85594	0.650000	0.86243	GGG		0.418	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		3	61	0	0	0	1	0	3	61				
POM121C	100101267	broad.mit.edu	37	7	75044449	75044449	+	IGR	SNP	T	T	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr7:75044449T>G	ENST00000257665.5	-	0	5700				NSUN5P1_ENST00000393633.2_RNA			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C						mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TCCCATGTCATCGATGCCTGT	0.637																																						ENST00000393633.2																			0				large_intestine(1)|lung(1)	2																																												SO:0001628	intergenic_variant	0							g.chr7:75044449T>G		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238		7.37:g.75044449T>G														0	3617	+								O75115|Q9Y2N3|Q9Y4S7	RNA	SNP	ENST00000257665.5	37																																																																																						0.637	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		12	26	0	0	0	1	0	12	26				
SEMA6B	10501	broad.mit.edu	37	19	4550923	4550923	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:4550923A>G	ENST00000586582.1	-	11	1319	c.1009T>C	c.(1009-1011)Tgc>Cgc	p.C337R	SEMA6B_ENST00000301293.3_Missense_Mutation_p.C337R|SEMA6B_ENST00000586965.1_Missense_Mutation_p.C337R	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	337	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.C337S(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAAGGCGCAGACAGCCGAG	0.627																																						ENST00000586582.1																			1	Substitution - Missense(1)	p.C337S(1)	lung(1)	breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1009-1011)Tgc>Cgc		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B							56.0	59.0	58.0					19																	4550923		2203	4300	6503	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4550923A>G	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1009T>C	19.37:g.4550923A>G	ENSP00000467290:p.Cys337Arg					SEMA6B_ENST00000301293.3_Missense_Mutation_p.C337R|SEMA6B_ENST00000586965.1_Missense_Mutation_p.C337R	p.C337R	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1319	-		Hepatocellular(1079;0.137)	337			Sema.		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.1009T>C	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	18.48	3.634166	0.67130	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	D	0.93906	-3.31	3.61	3.61	0.41365	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.054530	0.85682	U	0.000000	D	0.97548	0.9197	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.97929	1.0319	10	0.87932	D	0	.	11.4984	0.50422	1.0:0.0:0.0:0.0	.	337;337	B4DT36;Q9H3T3	.;SEM6B_HUMAN	R	337	ENSP00000301293:C337R	ENSP00000301292:C337R	C	-	1	0	SEMA6B	4501923	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.922000	0.92789	1.656000	0.50722	0.392000	0.25879	TGC		0.627	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		3	94	0	0	0	1	0	3	94				
T	6862	broad.mit.edu	37	6	166579237	166579237	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr6:166579237G>A	ENST00000296946.2	-	4	1031	c.563C>T	c.(562-564)cCt>cTt	p.P188L	T_ENST00000366871.3_Missense_Mutation_p.P188L	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	188					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CTGGGTCTCAGGGAAGCAGTG	0.557									Chordoma, Familial Clustering of																													ENST00000296946.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(562-564)cCt>cTt		T, brachyury homolog (mouse)							297.0	261.0	273.0					6																	166579237		2203	4300	6503	SO:0001583	missense	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166579237G>A	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.563C>T	6.37:g.166579237G>A	ENSP00000296946:p.Pro188Leu					T_ENST00000366871.3_Missense_Mutation_p.P188L	p.P188L	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	4	1031	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	188					E7ERD6|Q4KMP4	Missense_Mutation	SNP	ENST00000296946.2	37	c.563C>T	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873980	0.91664	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	D;D;D	0.81996	-1.56;-1.56;-1.56	4.94	4.94	0.65067	p53-like transcription factor, DNA-binding (1);	0.057610	0.64402	D	0.000001	D	0.93426	0.7903	H	0.97158	3.95	0.80722	D	1	P;D;D	0.76494	0.953;0.999;0.987	P;D;P	0.69307	0.639;0.963;0.849	D	0.95602	0.8664	10	0.87932	D	0	.	17.1654	0.86814	0.0:0.0:1.0:0.0	.	188;188;188	E7ERD6;O15178;Q4KMP4	.;BRAC_HUMAN;.	L	188	ENSP00000355841:P188L;ENSP00000296946:P188L;ENSP00000355836:P188L	ENSP00000296946:P188L	P	-	2	0	T	166499227	1.000000	0.71417	0.923000	0.36655	0.991000	0.79684	9.174000	0.94824	2.280000	0.76307	0.561000	0.74099	CCT		0.557	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		66	296	0	0	0	1	0	66	296				
SEC14L4	284904	broad.mit.edu	37	22	30886219	30886219	+	Missense_Mutation	SNP	C	C	T	rs564814217		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr22:30886219C>T	ENST00000255858.7	-	12	1179	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	SEC14L4_ENST00000381982.3_Intron|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000392772.2_Silent_p.S326S|SEC14L4_ENST00000540456.1_Missense_Mutation_p.D351N|RP4-539M6.14_ENST00000610156.1_RNA	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	366	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TAGGTGTTGTCGAAGCGCAGG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		24192	0.001		0.0	False		,,,				2504	0.0					ENST00000540456.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21						c.(1051-1053)Gac>Aac		SEC14-like 4 (S. cerevisiae)	Vitamin E(DB00163)						144.0	108.0	120.0					22																	30886219		2203	4300	6503	SO:0001583	missense	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30886219C>T	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.1096G>A	22.37:g.30886219C>T	ENSP00000255858:p.Asp366Asn					SEC14L4_ENST00000392772.2_Silent_p.S326S|SEC14L4_ENST00000255858.7_Missense_Mutation_p.D366N|SEC14L4_ENST00000381982.3_Intron	p.D351N			Q9UDX3	S14L4_HUMAN			13	1244	-			366			GOLD.		A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	37	c.1051G>A	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896318	0.91962	.	.	ENSG00000133488	ENST00000255858;ENST00000540456	T;T	0.58652	0.32;0.32	4.34	4.34	0.51931	GOLD (2);	0.000000	0.85682	D	0.000000	D	0.83198	0.5202	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.89127	0.3507	10	0.72032	D	0.01	0.2618	15.9892	0.80188	0.0:1.0:0.0:0.0	.	351;366	G3V1L4;Q9UDX3	.;S14L4_HUMAN	N	366;351	ENSP00000255858:D366N;ENSP00000440848:D351N	ENSP00000255858:D366N	D	-	1	0	SEC14L4	29216219	1.000000	0.71417	0.980000	0.43619	0.870000	0.49936	7.269000	0.78482	2.151000	0.67156	0.491000	0.48974	GAC		0.592	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		27	85	0	0	0	1	0	27	85				
ADARB1	104	broad.mit.edu	37	21	46624592	46624592	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr21:46624592G>A	ENST00000360697.3	+	8	1823	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q	ADARB1_ENST00000539173.1_Missense_Mutation_p.R603Q|ADARB1_ENST00000389863.4_Missense_Mutation_p.R603Q|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000348831.4_Missense_Mutation_p.R563Q			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	603	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		ATGTACCAGCGGATCTCCAAC	0.522																																						ENST00000539173.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17						c.(1807-1809)cGg>cAg		adenosine deaminase, RNA-specific, B1							138.0	118.0	125.0					21																	46624592		2203	4300	6503	SO:0001583	missense	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46624592G>A	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.1808G>A	21.37:g.46624592G>A	ENSP00000353920:p.Arg603Gln					ADARB1_ENST00000389863.4_Missense_Mutation_p.R603Q|ADARB1_ENST00000348831.4_Missense_Mutation_p.R563Q|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000360697.3_Missense_Mutation_p.R603Q	p.R603Q	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN		Colorectal(79;0.115)	10	2243	+			603			A to I editase.		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	ENST00000360697.3	37	c.1808G>A	CCDS33589.1	.	.	.	.	.	.	.	.	.	.	G	34	5.399976	0.96030	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34	4.77	4.77	0.60923	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.98789	0.9592	M	0.93550	3.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99640	1.0988	10	0.87932	D	0	-40.3012	15.673	0.77292	0.0:0.0:1.0:0.0	.	603;563;591;603	P78563;Q4AE77;G5E9B4;P78563-3	RED1_HUMAN;.;.;.	Q	603;603;603;563;603	ENSP00000441897:R603Q;ENSP00000374513:R603Q;ENSP00000015877:R563Q;ENSP00000353920:R603Q	ENSP00000015877:R563Q	R	+	2	0	ADARB1	45449020	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	9.349000	0.97066	2.365000	0.80145	0.650000	0.86243	CGG		0.522	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		37	55	0	0	0	1	0	37	55				
AFAP1L2	84632	broad.mit.edu	37	10	116060060	116060060	+	Missense_Mutation	SNP	G	G	A	rs144011687	byFrequency	TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:116060060G>A	ENST00000304129.4	-	15	1879	c.1850C>T	c.(1849-1851)aCg>aTg	p.T617M	AFAP1L2_ENST00000369271.3_Missense_Mutation_p.T617M|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.T670M|AFAP1L2_ENST00000491814.1_5'UTR			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	617					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTGCTGTTCCGTCTGGATTTT	0.607													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18474	0.0		0.0	False		,,,				2504	0.0					ENST00000369271.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21						c.(1849-1851)aCg>aTg		actin filament associated protein 1-like 2		G	MET/THR,MET/THR	5,4401	9.9+/-24.2	0,5,2198	129.0	139.0	136.0		1850,1850	4.3	0.2	10	dbSNP_134	136	0,8600		0,0,4300	yes	missense,missense	AFAP1L2	NM_001001936.1,NM_032550.2	81,81	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging,probably-damaging	617/819,617/815	116060060	5,13001	2203	4300	6503	SO:0001583	missense	84632				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding	g.chr10:116060060G>A	BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.1850C>T	10.37:g.116060060G>A	ENSP00000303042:p.Thr617Met					AFAP1L2_ENST00000304129.4_Missense_Mutation_p.T617M|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.T670M|AFAP1L2_ENST00000491814.1_5'UTR	p.T617M	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN		Epithelial(162;0.0219)|all cancers(201;0.0561)	15	2150	-		Colorectal(252;0.175)|Breast(234;0.231)	617					A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	c.1850C>T	CCDS31286.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.65	3.443247	0.63067	0.001135	0.0	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000545353	T;T;T	0.15487	2.43;2.43;2.42	5.24	4.31	0.51392	.	0.841321	0.11065	N	0.603559	T	0.35393	0.0930	L	0.54323	1.7	0.24682	N	0.993352	D;D;D;D;D;D;D	0.76494	0.995;0.997;0.999;0.999;0.995;0.993;0.989	P;P;P;P;P;P;P	0.62014	0.861;0.742;0.739;0.897;0.817;0.795;0.628	T	0.16217	-1.0410	10	0.46703	T	0.11	-4.5683	14.0662	0.64831	0.0:0.1506:0.8494:0.0	.	670;183;671;139;645;617;617	F5GZE1;B7Z363;B7Z2Q0;Q8N4X5-3;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;.;.;AF1L2_HUMAN	M	617;617;644;670	ENSP00000358276:T617M;ENSP00000303042:T617M;ENSP00000444511:T670M	ENSP00000303042:T617M	T	-	2	0	AFAP1L2	116050050	0.374000	0.25081	0.246000	0.24233	0.768000	0.43524	1.559000	0.36320	1.164000	0.42652	0.561000	0.74099	ACG		0.607	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1	NM_032550		15	148	0	0	0	1	0	15	148				
DNMT1	1786	broad.mit.edu	37	19	10250948	10250948	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:10250948G>A	ENST00000340748.4	-	32	3767	c.3532C>T	c.(3532-3534)Cgg>Tgg	p.R1178W	DNMT1_ENST00000359526.4_Missense_Mutation_p.R1194W|DNMT1_ENST00000540357.1_Missense_Mutation_p.R1178W|DNMT1_ENST00000589538.1_Intron			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1178	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TTGTTCAGCCGGAACGCCTGG	0.612																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(3532-3534)Cgg>Tgg		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						45.0	49.0	48.0					19																	10250948		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10250948G>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3532C>T	19.37:g.10250948G>A	ENSP00000345739:p.Arg1178Trp					DNMT1_ENST00000589538.1_Intron|DNMT1_ENST00000540357.1_Missense_Mutation_p.R1178W|DNMT1_ENST00000359526.4_Missense_Mutation_p.R1194W	p.R1178W			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		32	3767	-			1178			Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.3532C>T	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544309	0.45280	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.85088	-1.94;-1.94;-1.94	5.54	4.51	0.55191	.	0.051836	0.64402	N	0.000001	D	0.93167	0.7824	M	0.93328	3.405	0.53688	D	0.999979	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93204	0.6594	10	0.87932	D	0	-22.4734	8.3046	0.32034	0.0802:0.0:0.7648:0.155	.	1178;1194;1178	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	W	1194;1178;1178;1046	ENSP00000352516:R1194W;ENSP00000440457:R1178W;ENSP00000345739:R1178W	ENSP00000345739:R1178W	R	-	1	2	DNMT1	10111948	1.000000	0.71417	0.989000	0.46669	0.031000	0.12232	4.797000	0.62503	1.339000	0.45563	0.650000	0.86243	CGG		0.612	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		3	76	0	0	0	1	0	3	76				
TLR1	7096	broad.mit.edu	37	4	38799739	38799739	+	Silent	SNP	C	C	T	rs146940675		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:38799739C>T	ENST00000502213.2	-	3	943	c.714G>A	c.(712-714)gcG>gcA	p.A238A	TLR1_ENST00000308979.2_Silent_p.A238A			Q15399	TLR1_HUMAN	toll-like receptor 1	238					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTTGAAGTTTCGCCAGAATAC	0.343																																					GBM(5;216 373 40795 46382)	ENST00000308979.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						c.(712-714)gcG>gcA		toll-like receptor 1		C		1,4405	2.1+/-5.4	0,1,2202	59.0	65.0	63.0		714	0.9	0.0	4	dbSNP_134	63	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	TLR1	NM_003263.3		0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154		238/787	38799739	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38799739C>T	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.714G>A	4.37:g.38799739C>T						TLR1_ENST00000502213.2_Silent_p.A238A	p.A238A	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN			4	987	-			238					D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Silent	SNP	ENST00000502213.2	37	c.714G>A	CCDS33973.1																																																																																				0.343	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			8	32	0	0	0	1	0	8	32				
MCTP1	79772	broad.mit.edu	37	5	94248540	94248540	+	Silent	SNP	G	G	T	rs558503942		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr5:94248540G>T	ENST00000515393.1	-	9	1491	c.1492C>A	c.(1492-1494)Cgg>Agg	p.R498R	MCTP1_ENST00000429576.2_Silent_p.R231R|MCTP1_ENST00000312216.8_Silent_p.R277R|MCTP1_ENST00000505208.1_Silent_p.R277R|MCTP1_ENST00000505078.1_Silent_p.R14R	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	498	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGCCCAAGCCGGAACTTCACG	0.473																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(1492-1494)Cgg>Agg		multiple C2 domains, transmembrane 1							140.0	126.0	131.0					5																	94248540		2203	4300	6503	SO:0001819	synonymous_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94248540G>T		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1492C>A	5.37:g.94248540G>T						MCTP1_ENST00000429576.2_Silent_p.R231R|MCTP1_ENST00000505208.1_Silent_p.R277R|MCTP1_ENST00000505078.1_Silent_p.R14R|MCTP1_ENST00000312216.8_Silent_p.R277R	p.R498R	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	9	1491	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	498			C2 2.		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	c.1492C>A	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335565	0.24253	.	.	ENSG00000175471	ENST00000503301	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	T	0.76630	0.4014	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74484	-0.3650	4	.	.	.	-13.6282	19.8868	0.96915	0.0:0.0:1.0:0.0	.	.	.	.	Q	260	.	.	P	-	2	0	MCTP1	94274296	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.521000	0.60532	2.689000	0.91719	0.650000	0.86243	CCG		0.473	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		22	72	1	0	1.64293e-13	1	1.66821e-13	22	72				
UCN	7349	broad.mit.edu	37	2	27530455	27530455	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:27530455C>T	ENST00000296099.2	-	2	607	c.309G>A	c.(307-309)gcG>gcA	p.A103A		NM_003353.2	NP_003344.1	P55089	UCN1_HUMAN	urocortin	103					activation of protein kinase A activity (GO:0034199)|aerobic respiration (GO:0009060)|associative learning (GO:0008306)|drinking behavior (GO:0042756)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|inflammatory response (GO:0006954)|negative regulation of apoptotic process (GO:0043066)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell size (GO:0045792)|negative regulation of feeding behavior (GO:2000252)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of gene expression (GO:0010629)|negative regulation of hormone secretion (GO:0046888)|negative regulation of necrotic cell death (GO:0060547)|negative regulation of neuron death (GO:1901215)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|pancreatic juice secretion (GO:0030157)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of cell growth (GO:0030307)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of translation (GO:0045727)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasodilation (GO:0045909)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|response to pain (GO:0048265)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|perikaryon (GO:0043204)|varicosity (GO:0043196)	histone deacetylase inhibitor activity (GO:0046811)|neuropeptide hormone activity (GO:0005184)			lung(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGCGTCCGCGCCAGCTCCA	0.662																																						ENST00000296099.2																			0				lung(1)|skin(1)	2						c.(307-309)gcG>gcA		urocortin							23.0	26.0	25.0					2																	27530455		2199	4298	6497	SO:0001819	synonymous_variant	7349					extracellular region	neuropeptide hormone activity	g.chr2:27530455C>T	AF038633	CCDS1747.1	2p23-p21	2013-02-28			ENSG00000163794	ENSG00000163794		"""Endogenous ligands"""	12516	protein-coding gene	gene with protein product	"""prepro-urocortin"""	600945				9628819, 861256	Standard	NM_003353		Approved	UROC, UI	uc002rjp.1	P55089	OTTHUMG00000097068	ENST00000296099.2:c.309G>A	2.37:g.27530455C>T							p.A103A	NM_003353.2	NP_003344.1	P55089	UCN1_HUMAN			2	607	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		103					Q6FG64	Silent	SNP	ENST00000296099.2	37	c.309G>A	CCDS1747.1																																																																																				0.662	UCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214184.2	NM_003353		11	39	0	0	0	1	0	11	39				
CHGB	1114	broad.mit.edu	37	20	5905694	5905694	+	Silent	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:5905694G>A	ENST00000378961.4	+	5	2237	c.2033G>A	c.(2032-2034)tGa>tAa	p.*678*		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	0						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAAAGGGGCTGACTGTCATTG	0.438																																						ENST00000378961.4																			0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(2032-2034)tGa>tAa		chromogranin B (secretogranin 1)							75.0	72.0	73.0					20																	5905694		2203	4300	6503	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5905694G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.2033G>A	20.37:g.5905694G>A							p.*678*	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN			5	2237	+			0					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.2033G>A	CCDS13092.1																																																																																				0.438	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		23	23	0	0	0	1	0	23	23				
MYL2	4633	broad.mit.edu	37	12	111348957	111348957	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr12:111348957A>G	ENST00000228841.8	-	7	472	c.425T>C	c.(424-426)tTc>tCc	p.F142S	MYL2_ENST00000548438.1_Missense_Mutation_p.F128S	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	142	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						GTCAGGGGGGAAGGCGGCGAA	0.632																																					GBM(14;268 426 18829 21617 25540)	ENST00000228841.8																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						c.(424-426)tTc>tCc		myosin, light chain 2, regulatory, cardiac, slow							149.0	126.0	134.0					12																	111348957		2203	4300	6503	SO:0001583	missense	4633				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle	g.chr12:111348957A>G		CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"""Myosins / Light chain"", ""EF-hand domain containing"""	7583	protein-coding gene	gene with protein product	"""cardiac ventricular myosin light chain 2"""	160781	"""myosin, light polypeptide 2, regulatory, cardiac, slow"""			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.425T>C	12.37:g.111348957A>G	ENSP00000228841:p.Phe142Ser					MYL2_ENST00000548438.1_Missense_Mutation_p.F128S	p.F142S	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN			7	472	-			142			EF-hand 3.		Q16123	Missense_Mutation	SNP	ENST00000228841.8	37	c.425T>C	CCDS31901.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.003406	0.35320	.	.	ENSG00000111245	ENST00000228841;ENST00000548438	T;T	0.79141	-1.24;-1.24	4.95	4.95	0.65309	EF-hand-like domain (1);	0.095662	0.64402	D	0.000001	T	0.79753	0.4500	L	0.33339	1.005	0.80722	D	1	P	0.46656	0.882	P	0.61132	0.884	T	0.76658	-0.2878	10	0.25751	T	0.34	.	13.902	0.63809	1.0:0.0:0.0:0.0	.	142	P10916	MLRV_HUMAN	S	142;128	ENSP00000228841:F142S;ENSP00000447154:F128S	ENSP00000228841:F142S	F	-	2	0	MYL2	109833340	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	8.550000	0.90675	1.977000	0.57605	0.448000	0.29417	TTC		0.632	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432		4	235	0	0	0	1	0	4	235				
KMT2A	4297	broad.mit.edu	37	11	118374340	118374340	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr11:118374340C>T	ENST00000389506.5	+	27	7724	c.7724C>T	c.(7723-7725)cCc>cTc	p.P2575L	KMT2A_ENST00000534358.1_Missense_Mutation_p.P2578L|KMT2A_ENST00000354520.4_Missense_Mutation_p.P2537L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2575					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CAACCAAGCCCCAATAATACC	0.473																																						ENST00000534358.1																			0											c.(7732-7734)cCc>cTc		lysine (K)-specific methyltransferase 2A							62.0	63.0	62.0					11																	118374340		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118374340C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7724C>T	11.37:g.118374340C>T	ENSP00000374157:p.Pro2575Leu					KMT2A_ENST00000354520.4_Missense_Mutation_p.P2537L|KMT2A_ENST00000389506.5_Missense_Mutation_p.P2575L	p.P2578L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	7756	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.7733C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.219966	0.39201	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82526	-1.62;-1.62;-1.58	5.95	5.95	0.96441	.	0.113719	0.64402	D	0.000010	T	0.76442	0.3988	N	0.24115	0.695	0.58432	D	0.999992	B;B	0.25719	0.132;0.132	B;B	0.17098	0.017;0.017	T	0.72411	-0.4302	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	2578;2575	E9PQG7;Q03164	.;MLL1_HUMAN	L	2578;2575;2537;1485	ENSP00000436786:P2578L;ENSP00000374157:P2575L;ENSP00000346516:P2537L	ENSP00000346516:P2537L	P	+	2	0	MLL	117879550	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	3.180000	0.50895	2.824000	0.97209	0.655000	0.94253	CCC		0.473	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		11	56	0	0	0	1	0	11	56				
CCDC30	728621	broad.mit.edu	37	1	43032078	43032078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:43032078C>T	ENST00000340612.4	+	5	787	c.787C>T	c.(787-789)Cga>Tga	p.R263*	RNU6-536P_ENST00000363384.1_RNA|CCDC30_ENST00000428554.2_Nonsense_Mutation_p.R263*|CCDC30_ENST00000390640.4_Nonsense_Mutation_p.R52*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.R263*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.R52*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	263						extracellular vesicular exosome (GO:0070062)		p.R263*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAATGAGCTTCGATATGAACG	0.408																																						ENST00000428554.2																			1	Substitution - Nonsense(1)	p.R263*(1)	large_intestine(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(787-789)Cga>Tga		coiled-coil domain containing 30							94.0	90.0	91.0					1																	43032078		2203	4300	6503	SO:0001587	stop_gained	728621							g.chr1:43032078C>T	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.787C>T	1.37:g.43032078C>T	ENSP00000340378:p.Arg263*					CCDC30_ENST00000390640.4_Nonsense_Mutation_p.R52*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.R263*|CCDC30_ENST00000340612.4_Nonsense_Mutation_p.R263*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.R52*	p.R263*			Q5VVM6	CCD30_HUMAN			13	1930	+			263					Q14F06|Q5VVM5	Nonsense_Mutation	SNP	ENST00000340612.4	37	c.787C>T	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986306	0.93044	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	.	.	.	5.83	4.92	0.64577	.	0.252263	0.39759	N	0.001269	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1432	0.65334	0.1511:0.8489:0.0:0.0	.	.	.	.	X	263;52;263;263;52	.	ENSP00000340378:R263X	R	+	1	2	CCDC30	42804665	0.997000	0.39634	0.999000	0.59377	0.998000	0.95712	1.473000	0.35387	1.455000	0.47813	0.655000	0.94253	CGA		0.408	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	NM_025030		33	56	0	0	0	1	0	33	56				
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413																																						ENST00000300619.7																			0											c.(913-915)cAt>cGt		zinc finger protein 91							78.0	82.0	81.0					19																	23544867		2175	4288	6463	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544867T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.914A>G	19.37:g.23544867T>C	ENSP00000300619:p.His305Arg					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	p.H305R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1119	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	305					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.914A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.588219	0.00872	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17691	2.26;2.26	2.03	0.954	0.19595	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	N	0.04043	-0.29	0.09310	N	1	B;B	0.26081	0.116;0.141	B;B	0.15484	0.007;0.013	T	0.41251	-0.9519	9	0.07030	T	0.85	.	6.7777	0.23628	0.0:0.1365:0.0:0.8635	.	273;305	Q05481-2;Q05481	.;ZNF91_HUMAN	R	305;273	ENSP00000300619:H305R;ENSP00000380272:H273R	ENSP00000300619:H305R	H	-	2	0	ZNF91	23336707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.802000	0.00184	-0.005000	0.14395	-1.601000	0.00813	CAT		0.413	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		5	84	0	0	0	1	0	5	84				
RBMX	27316	broad.mit.edu	37	X	135956319	135956319	+	Silent	SNP	T	T	C			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chrX:135956319T>C	ENST00000320676.7	-	9	1312	c.1158A>G	c.(1156-1158)ggA>ggG	p.G386G	RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000570135.1_Silent_p.G251G|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_Silent_p.G258G|RBMX_ENST00000496459.2_5'Flank	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	386	Necessary for RNA-binding.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCTGCCTCCCCCTCTAT	0.483																																						ENST00000320676.7																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33						c.(1156-1158)ggA>ggG		RNA binding motif protein, X-linked							43.0	45.0	44.0					X																	135956319		2166	4172	6338	SO:0001819	synonymous_variant	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135956319T>C		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.1158A>G	X.37:g.135956319T>C						RBMX_ENST00000431446.3_Intron|RBMX_ENST00000565438.1_Silent_p.G258G|RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000570135.1_Silent_p.G251G	p.G386G	NM_002139.3	NP_002130.2	P38159	HNRPG_HUMAN			9	1312	-	Acute lymphoblastic leukemia(192;0.000127)		386					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Silent	SNP	ENST00000320676.7	37	c.1158A>G	CCDS14661.1																																																																																				0.483	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		4	76	0	0	0	1	0	4	76				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	15	0	0	0	1	0	4	15				
UNC13B	10497	broad.mit.edu	37	9	35381621	35381621	+	Silent	SNP	C	C	T	rs199752726		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr9:35381621C>T	ENST00000378495.3	+	19	2535	c.2313C>T	c.(2311-2313)gaC>gaT	p.D771D	UNC13B_ENST00000396787.1_Silent_p.D783D|UNC13B_ENST00000378496.4_Silent_p.D771D	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	771					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTCGAGGAGACGATGCCTGGA	0.498																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2311-2313)gaC>gaT		unc-13 homolog B (C. elegans)							162.0	145.0	151.0					9																	35381621		2203	4300	6503	SO:0001819	synonymous_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35381621C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2313C>T	9.37:g.35381621C>T						UNC13B_ENST00000396787.1_Silent_p.D783D|UNC13B_ENST00000378496.4_Silent_p.D771D	p.D771D	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		19	2535	+	all_epithelial(49;0.212)		771					Q5VYM8	Silent	SNP	ENST00000378495.3	37	c.2313C>T	CCDS6579.1																																																																																				0.498	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		4	112	0	0	0	1	0	4	112				
EDAR	10913	broad.mit.edu	37	2	109547447	109547447	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:109547447C>T	ENST00000258443.2	-	2	454	c.24G>A	c.(22-24)acG>acA	p.T8T	EDAR_ENST00000409271.1_Silent_p.T8T|EDAR_ENST00000376651.1_Silent_p.T8T	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	8					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						AGGGCGTCTGCGTGCAGTCCC	0.627																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(22-24)acG>acA		ectodysplasin A receptor							84.0	82.0	82.0					2																	109547447		2203	4300	6503	SO:0001819	synonymous_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109547447C>T	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.24G>A	2.37:g.109547447C>T						EDAR_ENST00000258443.2_Silent_p.T8T|EDAR_ENST00000376651.1_Silent_p.T8T	p.T8T			Q9UNE0	EDAR_HUMAN			3	467	-			8					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Silent	SNP	ENST00000258443.2	37	c.24G>A	CCDS2081.1																																																																																				0.627	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			30	87	0	0	0	1	0	30	87				
SLC20A2	6575	broad.mit.edu	37	8	42287600	42287600	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:42287600G>A	ENST00000342228.3	-	9	2060	c.1691C>T	c.(1690-1692)aCt>aTt	p.T564I	SLC20A2_ENST00000520262.1_Missense_Mutation_p.T564I|SLC20A2_ENST00000520179.1_Missense_Mutation_p.T564I	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	564					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CGTGATGGGAGTGAGGTCCTT	0.612																																						ENST00000342228.3																			0				breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26						c.(1690-1692)aCt>aTt		solute carrier family 20 (phosphate transporter), member 2							97.0	76.0	83.0					8																	42287600		2203	4300	6503	SO:0001583	missense	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42287600G>A		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.1691C>T	8.37:g.42287600G>A	ENSP00000340465:p.Thr564Ile					SLC20A2_ENST00000520179.1_Missense_Mutation_p.T564I|SLC20A2_ENST00000520262.1_Missense_Mutation_p.T564I	p.T564I	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		9	2060	-	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	564						Missense_Mutation	SNP	ENST00000342228.3	37	c.1691C>T	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584734	0.86748	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.91996	-2.95;-2.95;-2.95	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.92202	0.7527	M	0.69248	2.105	0.80722	D	1	D	0.55800	0.973	P	0.45639	0.488	D	0.92050	0.5647	10	0.45353	T	0.12	-31.2984	17.3513	0.87324	0.0:0.0:1.0:0.0	.	564	Q08357	S20A2_HUMAN	I	564	ENSP00000340465:T564I;ENSP00000429754:T564I;ENSP00000429712:T564I	ENSP00000340465:T564I	T	-	2	0	SLC20A2	42406757	1.000000	0.71417	0.967000	0.41034	0.837000	0.47467	9.862000	0.99564	2.704000	0.92352	0.555000	0.69702	ACT		0.612	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			3	64	0	0	0	1	0	3	64				
PRKCQ	5588	broad.mit.edu	37	10	6527130	6527130	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:6527130C>T	ENST00000263125.5	-	10	1101	c.1002G>A	c.(1000-1002)ccG>ccA	p.P334P	PRKCQ_ENST00000539722.1_Silent_p.P209P|PRKCQ_ENST00000397176.2_Silent_p.P334P	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	334					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	TTCCCGGTGTCGGTAAACATG	0.443																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.(1000-1002)ccG>ccA		protein kinase C, theta							184.0	178.0	180.0					10																	6527130		2203	4300	6503	SO:0001819	synonymous_variant	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6527130C>T	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1002G>A	10.37:g.6527130C>T						PRKCQ_ENST00000539722.1_Silent_p.P209P|PRKCQ_ENST00000397176.2_Silent_p.P334P	p.P334P	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			10	1101	-			334					B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Silent	SNP	ENST00000263125.5	37	c.1002G>A	CCDS7079.1	.	.	.	.	.	.	.	.	.	.	.	3.374	-0.127896	0.06753	.	.	ENSG00000065675	ENST00000397178	.	.	.	5.22	-4.86	0.03132	.	.	.	.	.	T	0.25717	0.0626	.	.	.	0.22620	N	0.998923	.	.	.	.	.	.	T	0.32561	-0.9902	4	.	.	.	.	6.2022	0.20583	0.0:0.2699:0.3589:0.3712	.	.	.	.	Q	107	.	.	R	-	2	0	PRKCQ	6567136	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.836000	0.04382	-0.875000	0.04022	-1.304000	0.01323	CGA		0.443	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257		6	193	0	0	0	1	0	6	193				
PCNT	5116	broad.mit.edu	37	21	47754527	47754527	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr21:47754527A>G	ENST00000359568.5	+	3	591	c.484A>G	c.(484-486)Agt>Ggt	p.S162G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	162					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTTCACAGTCAGTGACCACCC	0.552																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(484-486)Agt>Ggt		pericentrin							206.0	129.0	155.0					21																	47754527		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754527A>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.484A>G	21.37:g.47754527A>G	ENSP00000352572:p.Ser162Gly					PCNT_ENST00000480896.1_3'UTR	p.S162G	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			3	591	+	Breast(49;0.112)		162					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.484A>G	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	a	0.030	-1.341863	0.01277	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01705	4.68	0.235	0.235	0.15431	.	.	.	.	.	T	0.02767	0.0083	L	0.36672	1.1	0.09310	N	1	P;P	0.46395	0.877;0.805	P;P	0.51866	0.682;0.483	T	0.50215	-0.8854	8	0.25751	T	0.34	.	.	.	.	.	44;162	O95613-2;O95613	.;PCNT_HUMAN	G	162;149	ENSP00000352572:S162G	ENSP00000338675:S149G	S	+	1	0	PCNT	46578955	0.036000	0.19791	0.005000	0.12908	0.005000	0.04900	1.077000	0.30741	0.263000	0.21812	0.260000	0.18958	AGT		0.552	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		3	121	0	0	0	1	0	3	121				
NSFL1C	55968	broad.mit.edu	37	20	1445045	1445045	+	Silent	SNP	G	G	A	rs191322139	byFrequency	TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:1445045G>A	ENST00000216879.4	-	2	999	c.132C>T	c.(130-132)gaC>gaT	p.D44D	NSFL1C_ENST00000350991.4_Silent_p.D44D|NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000476071.1_Silent_p.D44D|NSFL1C_ENST00000353088.2_Silent_p.D44D	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	44						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CATCCCCTCCGTCCTCATAAA	0.522													G|||	2	0.000399361	0.0008	0.0	5008	,	,		21490	0.001		0.0	False		,,,				2504	0.0					ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(130-132)gaC>gaT		NSFL1 (p97) cofactor (p47)							157.0	142.0	147.0					20																	1445045		2203	4300	6503	SO:0001819	synonymous_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1445045G>A	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.132C>T	20.37:g.1445045G>A						NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000350991.4_Silent_p.D44D|NSFL1C_ENST00000353088.2_Silent_p.D44D|RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000476071.1_Silent_p.D44D	p.D44D	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			2	999	-			44					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Silent	SNP	ENST00000216879.4	37	c.132C>T	CCDS13015.1																																																																																				0.522	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		12	165	0	0	0	1	0	12	165				
BPI	671	broad.mit.edu	37	20	36952337	36952337	+	Silent	SNP	C	C	T	rs201390253		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:36952337C>T	ENST00000262865.4	+	8	923	c.834C>T	c.(832-834)ccC>ccT	p.P278P	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	278					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TGGAGTTTCCCGCTGCCCATG	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		18741	0.001		0.0	False		,,,				2504	0.0					ENST00000262865.4																			0				kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30						c.(832-834)ccC>ccT		bactericidal/permeability-increasing protein							127.0	105.0	113.0					20																	36952337		2203	4300	6503	SO:0001819	synonymous_variant	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36952337C>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.834C>T	20.37:g.36952337C>T						CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	p.P278P	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN			8	923	+		Myeloproliferative disorder(115;0.00878)	278					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	c.834C>T	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	C	3.220	-0.159733	0.06502	.	.	ENSG00000101425	ENST00000417318	T	0.08720	3.06	4.29	-3.87	0.04218	.	0.198008	0.35436	N	0.003215	T	0.03959	0.0111	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.36866	-0.9730	7	0.22109	T	0.4	-13.4317	2.9817	0.05955	0.1101:0.3214:0.1144:0.4541	.	.	.	.	L	104	ENSP00000409833:P104L	ENSP00000409833:P104L	P	+	2	0	BPI	36385751	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.575000	0.00213	-0.985000	0.03503	-2.048000	0.00412	CCG		0.537	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		34	54	0	0	0	1	0	34	54				
IL1RL2	8808	broad.mit.edu	37	2	102818122	102818122	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:102818122T>G	ENST00000264257.2	+	5	722	c.596T>G	c.(595-597)cTg>cGg	p.L199R	IL1RL2_ENST00000441515.2_Missense_Mutation_p.L82R|IL1RL2_ENST00000539491.1_Missense_Mutation_p.L199R|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	199	Ig-like C2-type 2.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CAAGCCATACTGACACACTCA	0.478																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(595-597)cTg>cGg		interleukin 1 receptor-like 2							136.0	111.0	120.0					2																	102818122		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102818122T>G	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.596T>G	2.37:g.102818122T>G	ENSP00000264257:p.Leu199Arg					IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.L199R|IL1RL2_ENST00000441515.2_Missense_Mutation_p.L82R	p.L199R	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			5	722	+			199			Ig-like C2-type 2.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.596T>G	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049372	0.55218	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.77229	-1.08;3.78;-1.08	4.56	4.56	0.56223	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.161402	0.41823	D	0.000802	D	0.86539	0.5957	M	0.80982	2.52	0.09310	N	0.999999	D;D	0.69078	0.994;0.997	P;D	0.72982	0.837;0.979	T	0.78708	-0.2099	10	0.62326	D	0.03	.	10.4726	0.44646	0.0:0.0:0.0:1.0	.	82;199	A4FU63;Q9HB29	.;ILRL2_HUMAN	R	199;82;199	ENSP00000264257:L199R;ENSP00000413348:L82R;ENSP00000442184:L199R	ENSP00000264257:L199R	L	+	2	0	IL1RL2	102184554	0.886000	0.30341	0.142000	0.22268	0.015000	0.08874	3.284000	0.51708	2.046000	0.60703	0.379000	0.24179	CTG		0.478	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		25	26	0	0	0	1	0	25	26				
PCDH20	64881	broad.mit.edu	37	13	61986933	61986933	+	Silent	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr13:61986933G>A	ENST00000409186.1	-	5	3404	c.1299C>T	c.(1297-1299)aaC>aaT	p.N433N	PCDH20_ENST00000409204.4_Silent_p.N433N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	433	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CATCTATCTCGTTTGCTATGT	0.418																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1297-1299)aaC>aaT		protocadherin 20							106.0	109.0	108.0					13																	61986933		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986933G>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1299C>T	13.37:g.61986933G>A						PCDH20_ENST00000409204.4_Silent_p.N433N	p.N433N			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3404	-		Breast(118;0.195)|Prostate(109;0.229)	406			Cadherin 3.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.1299C>T	CCDS9442.2																																																																																				0.418	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		22	86	0	0	0	1	0	22	86				
MX2	4600	broad.mit.edu	37	21	42774042	42774042	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr21:42774042C>T	ENST00000330714.3	+	11	1744	c.1560C>T	c.(1558-1560)ctC>ctT	p.L520L	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	520					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TTAGCATGCTCCAGAAAGCCA	0.517																																						ENST00000330714.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(1558-1560)ctC>ctT		myxovirus (influenza virus) resistance 2 (mouse)							86.0	83.0	84.0					21																	42774042		2203	4300	6503	SO:0001819	synonymous_variant	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42774042C>T		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.1560C>T	21.37:g.42774042C>T						MX2_ENST00000496774.1_3'UTR	p.L520L	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			11	1744	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	520					B7Z5D3|D3DSI7	Silent	SNP	ENST00000330714.3	37	c.1560C>T	CCDS13672.1																																																																																				0.517	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		21	67	0	0	0	1	0	21	67				
UNC13A	23025	broad.mit.edu	37	19	17743590	17743590	+	Splice_Site	SNP	C	C	T	rs565430059		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:17743590C>T	ENST00000519716.2	-	28	3428		c.e28+1		UNC13A_ENST00000252773.7_Splice_Site|UNC13A_ENST00000428389.2_Splice_Site|UNC13A_ENST00000551649.1_Splice_Site|UNC13A_ENST00000552293.1_Splice_Site|UNC13A_ENST00000550896.1_Splice_Site	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)						beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGGGGACTTACGCAGGGTACT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		21443	0.0		0.0	False		,,,				2504	0.001					ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.e29+1		unc-13 homolog A (C. elegans)							83.0	88.0	86.0					19																	17743590		2077	4215	6292	SO:0001630	splice_region_variant	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17743590C>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3428+1G>A	19.37:g.17743590C>T						UNC13A_ENST00000252773.7_Splice_Site|UNC13A_ENST00000519716.2_Splice_Site|UNC13A_ENST00000550896.1_Splice_Site|UNC13A_ENST00000551649.1_Splice_Site|UNC13A_ENST00000552293.1_Splice_Site				Q9UPW8	UN13A_HUMAN			29	3692	-								E5RHY9	Splice_Site	SNP	ENST00000519716.2	37		CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477548	0.63849	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	.	.	.	3.63	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7958	0.57558	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UNC13A	17604590	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.620000	0.83070	1.585000	0.49928	0.298000	0.19748	.		0.552	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	Intron	21	90	0	0	0	1	0	21	90				
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G	rs200594600		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:40580552T>G	ENST00000595687.2	-	6	2006	c.1797A>C	c.(1795-1797)caA>caC	p.Q599H	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000450241.2_Missense_Mutation_p.Q565H	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1693-1695)caA>caC		zinc finger protein 780A							144.0	142.0	143.0					19																	40580552		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580552T>G	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1797A>C	19.37:g.40580552T>G	ENSP00000472189:p.Gln599His					ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H	p.Q565H			O75290	Z780A_HUMAN			6	2006	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		599					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1695A>C	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	t	9.527	1.109847	0.20714	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.27402	1.67;1.67	1.93	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19208	0.0461	N	0.02674	-0.535	0.09310	N	1	B;D	0.69078	0.387;0.997	B;D	0.65684	0.312;0.937	T	0.17715	-1.0360	9	0.08599	T	0.76	.	6.7369	0.23415	0.0:0.0:0.4738:0.5262	.	600;599	E9PB48;O75290	.;Z780A_HUMAN	H	599;600;599	ENSP00000400997:Q600H;ENSP00000341507:Q599H	ENSP00000341507:Q599H	Q	-	3	2	ZNF780A	45272392	0.000000	0.05858	0.004000	0.12327	0.653000	0.38743	-2.502000	0.00965	-0.004000	0.14419	0.260000	0.18958	CAA		0.403	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		4	112	0	0	0	1	0	4	112				
ZNF217	7764	broad.mit.edu	37	20	52198916	52198916	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:52198916G>C	ENST00000371471.2	-	2	875	c.450C>G	c.(448-450)caC>caG	p.H150Q	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.H150Q			O75362	ZN217_HUMAN	zinc finger protein 217	150					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AAGAATCTTTGTGTGTTCTCA	0.423																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(448-450)caC>caG		zinc finger protein 217							150.0	142.0	144.0					20																	52198916		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198916G>C	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.450C>G	20.37:g.52198916G>C	ENSP00000360526:p.His150Gln					ZNF217_ENST00000302342.3_Missense_Mutation_p.H150Q	p.H150Q			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	875	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		150					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.450C>G	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761959	0.69763	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	D;D	0.81908	-1.55;-1.55	5.79	-0.949	0.10376	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.90570	0.7044	M	0.93283	3.4	0.48511	D	0.999664	D	0.89917	1.0	D	0.97110	1.0	D	0.87229	0.2259	10	0.87932	D	0	-35.7717	5.7526	0.18154	0.5294:0.142:0.3286:0.0	.	150	O75362	ZN217_HUMAN	Q	150	ENSP00000360526:H150Q;ENSP00000304308:H150Q	ENSP00000304308:H150Q	H	-	3	2	ZNF217	51632323	1.000000	0.71417	0.953000	0.39169	0.944000	0.59088	2.466000	0.45084	-0.030000	0.13804	0.655000	0.94253	CAC		0.423	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		8	158	0	0	0	1	0	8	158				
OR5H15	403274	broad.mit.edu	37	3	97887873	97887873	+	Silent	SNP	A	A	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:97887873A>T	ENST00000356526.2	+	1	330	c.330A>T	c.(328-330)acA>acT	p.T110T		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GCGTAACCACAGAATGTTTTC	0.398																																						ENST00000356526.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						c.(328-330)acA>acT		olfactory receptor, family 5, subfamily H, member 15							128.0	125.0	126.0					3																	97887873		2203	4298	6501	SO:0001819	synonymous_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887873A>T		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.330A>T	3.37:g.97887873A>T							p.T110T	NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN			1	330	+			110						Silent	SNP	ENST00000356526.2	37	c.330A>T	CCDS33799.1																																																																																				0.398	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			4	87	0	0	0	1	0	4	87				
HR	55806	broad.mit.edu	37	8	21982885	21982885	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:21982885C>T	ENST00000381418.4	-	5	3169	c.1689G>A	c.(1687-1689)ggG>ggA	p.G563G	HR_ENST00000312841.8_Silent_p.G563G	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	563					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ACAGTCGGTCCCCCAAACCAC	0.677																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(1687-1689)ggG>ggA		hair growth associated							24.0	26.0	25.0					8																	21982885		2200	4296	6496	SO:0001819	synonymous_variant	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21982885C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1689G>A	8.37:g.21982885C>T						HR_ENST00000312841.8_Silent_p.G563G	p.G563G	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	5	3169	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	563					Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	37	c.1689G>A	CCDS6022.1																																																																																				0.677	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			4	6	0	0	0	1	0	4	6				
RYR1	6261	broad.mit.edu	37	19	39039015	39039015	+	Silent	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:39039015C>T	ENST00000359596.3	+	89	12237	c.12237C>T	c.(12235-12237)taC>taT	p.Y4079Y	RYR1_ENST00000355481.4_Silent_p.Y4074Y|RYR1_ENST00000360985.3_Silent_p.Y4074Y			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4079					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCCAGGACTACGTAACGGATC	0.552																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(12220-12222)taC>taT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						162.0	131.0	141.0					19																	39039015		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39039015C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12237C>T	19.37:g.39039015C>T						RYR1_ENST00000360985.3_Silent_p.Y4074Y|RYR1_ENST00000359596.3_Silent_p.Y4079Y	p.Y4074Y	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		88	12353	+	all_cancers(60;7.91e-06)		4079					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.12222C>T	CCDS33011.1																																																																																				0.552	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			34	60	0	0	0	1	0	34	60				
CXorf67	340602	broad.mit.edu	37	X	51150911	51150911	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chrX:51150911G>A	ENST00000342995.2	+	1	1145	c.1043G>A	c.(1042-1044)cGt>cAt	p.R348H				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	348	Ser-rich.									breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CTCCGGAGCCGTTCCACCCAG	0.637																																						ENST00000342995.2																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						c.(1042-1044)cGt>cAt		chromosome X open reading frame 67							32.0	27.0	28.0					X																	51150911		2203	4297	6500	SO:0001583	missense	340602							g.chrX:51150911G>A	BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.1043G>A	X.37:g.51150911G>A	ENSP00000342680:p.Arg348His						p.R348H							1	1145	+									Missense_Mutation	SNP	ENST00000342995.2	37	c.1043G>A		.	.	.	.	.	.	.	.	.	.	g	2.141	-0.396690	0.04899	.	.	ENSG00000187690	ENST00000342995	T	0.46063	0.88	3.42	-1.53	0.08611	.	2.314440	0.02051	N	0.050035	T	0.26484	0.0647	.	.	.	0.09310	N	1	B	0.20261	0.043	B	0.12837	0.008	T	0.07849	-1.0751	9	0.30078	T	0.28	-0.0472	4.3754	0.11269	0.3978:0.0:0.4499:0.1524	.	348	Q86X51	CX067_HUMAN	H	348	ENSP00000342680:R348H	ENSP00000342680:R348H	R	+	2	0	CXorf67	51167651	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-0.557000	0.06126	-0.855000	0.03028	CGT		0.637	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_203407		17	14	0	0	0	1	0	17	14				
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	A	C	rs113451248	byFrequency	TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr11:124857495A>C	ENST00000344762.5	+	8	1632	c.1373A>C	c.(1372-1374)cAc>cCc	p.H458P	CCDC15_ENST00000529051.1_Missense_Mutation_p.H458P	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	458						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418													C|||	6	0.00119808	0.0008	0.0	5008	,	,		19182	0.005		0.0	False		,,,				2504	0.0					ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1372-1374)cAc>cCc		coiled-coil domain containing 15		C	PRO/HIS	5,3679		0,5,1837	109.0	105.0	106.0		1373	-1.4	0.0	11	dbSNP_132	106	0,8170		0,0,4085	yes	missense	CCDC15	NM_025004.2	77	0,5,5922	CC,CA,AA		0.0,0.1357,0.0422	benign	458/952	124857495	5,11849	1842	4085	5927	SO:0001583	missense	80071					centrosome		g.chr11:124857495A>C	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1373A>C	11.37:g.124857495A>C	ENSP00000341684:p.His458Pro					CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P	p.H458P			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1632	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	458					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1373A>C	CCDS44756.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	0.007	-1.935858	0.00484	0.001357	0.0	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.29142	1.6;1.58	3.32	-1.4	0.08968	.	.	.	.	.	T	0.04272	0.0118	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29882	-0.9997	9	0.02654	T	1	0.0636	3.381	0.07255	0.5595:0.2054:0.1382:0.0969	.	458	Q0P6D6	CCD15_HUMAN	P	458	ENSP00000435403:H458P;ENSP00000341684:H458P	ENSP00000341684:H458P	H	+	2	0	CCDC15	124362705	.	.	0.000000	0.03702	0.085000	0.17905	.	.	-0.576000	0.05974	-0.215000	0.12644	CAC		0.418	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		5	101	0	0	0	1	0	5	101				
FRMD4A	55691	broad.mit.edu	37	10	13825006	13825006	+	Splice_Site	SNP	C	C	T	rs559657039		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:13825006C>T	ENST00000357447.2	-	6	668	c.300G>A	c.(298-300)agG>agA	p.R100R	FRMD4A_ENST00000358621.4_Splice_Site_p.R85R|FRMD4A_ENST00000378503.1_Splice_Site_p.R100R|FRMD4A_ENST00000342409.2_Splice_Site_p.R116R	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	100	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTATATAGAACCTGAAAGAGA	0.428																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.e6-1		FERM domain containing 4A							106.0	106.0	106.0					10																	13825006		2203	4300	6503	SO:0001630	splice_region_variant	55691					cytoplasm|cytoskeleton	binding	g.chr10:13825006C>T	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.300-1G>A	10.37:g.13825006C>T						FRMD4A_ENST00000342409.2_Splice_Site_p.R116_splice|FRMD4A_ENST00000378503.1_Splice_Site_p.R100_splice|FRMD4A_ENST00000358621.4_Splice_Site_p.R85_splice	p.R100_splice	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			6	668	-			100			FERM.		A7E2Y3|Q5T377	Splice_Site	SNP	ENST00000357447.2	37	c.299_splice	CCDS7101.1																																																																																				0.428	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027	Silent	37	55	0	0	0	1	0	37	55				
PDGFRA	5156	broad.mit.edu	37	4	55131206	55131206	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:55131206C>T	ENST00000257290.5	+	5	1080	c.749C>T	c.(748-750)cCt>cTt	p.P250L	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	250	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGGACTTACCCTGGAGAAGTG	0.488			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(748-750)cCt>cTt		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						125.0	117.0	120.0					4																	55131206		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55131206C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.749C>T	4.37:g.55131206C>T	ENSP00000257290:p.Pro250Leu	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	p.P250L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		5	1080	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		250			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.749C>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975561	0.74360	.	.	ENSG00000134853	ENST00000257290	T	0.66995	-0.24	5.35	5.35	0.76521	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.31936	U	0.006823	D	0.83778	0.5328	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85123	0.0970	10	0.54805	T	0.06	.	19.0765	0.93165	0.0:1.0:0.0:0.0	.	250;250	P16234-3;P16234	.;PGFRA_HUMAN	L	250	ENSP00000257290:P250L	ENSP00000257290:P250L	P	+	2	0	PDGFRA	54825963	1.000000	0.71417	0.999000	0.59377	0.216000	0.24613	6.316000	0.72857	2.518000	0.84900	0.561000	0.74099	CCT		0.488	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		33	80	0	0	0	1	0	33	80				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"""		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151.0	112.0	125.0					17																	7577539		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.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	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.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	p.R248W	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)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	51	0	0	0	1	0	31	51				
HYAL1	3373	broad.mit.edu	37	3	50337931	50337931	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:50337931G>A	ENST00000266031.4	-	3	1906	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	HYAL3_ENST00000336307.1_5'Flank|HYAL3_ENST00000415204.1_5'Flank|NAT6_ENST00000443094.2_5'Flank|HYAL1_ENST00000395144.2_Missense_Mutation_p.R431W|NAT6_ENST00000354862.4_5'Flank|NAT6_ENST00000443842.1_5'Flank|HYAL1_ENST00000447605.2_Missense_Mutation_p.R172W|HYAL1_ENST00000457214.2_Missense_Mutation_p.R249W|NAT6_ENST00000417393.1_5'Flank|HYAL3_ENST00000359051.3_5'Flank|HYAL1_ENST00000395143.2_Missense_Mutation_p.R401W|HYAL3_ENST00000513170.1_5'Flank|HYAL3_ENST00000450982.1_5'Flank|HYAL1_ENST00000320295.8_Missense_Mutation_p.R431W			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	431					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATGCTCTTCCGCTCACACCAC	0.552																																						ENST00000266031.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(1291-1293)Cgg>Tgg		hyaluronoglucosaminidase 1	Hyaluronidase(DB00070)						93.0	95.0	95.0					3																	50337931		2203	4300	6503	SO:0001583	missense	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50337931G>A	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.1291C>T	3.37:g.50337931G>A	ENSP00000266031:p.Arg431Trp					HYAL1_ENST00000457214.2_Missense_Mutation_p.R249W|HYAL1_ENST00000447605.2_Missense_Mutation_p.R172W|HYAL1_ENST00000395144.2_Missense_Mutation_p.R431W|HYAL1_ENST00000320295.8_Missense_Mutation_p.R431W|HYAL1_ENST00000395143.2_Missense_Mutation_p.R401W	p.R431W			Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	3	1906	-			431					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Missense_Mutation	SNP	ENST00000266031.4	37	c.1291C>T	CCDS2816.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551292	0.65311	.	.	ENSG00000114378	ENST00000395144;ENST00000266031;ENST00000320295;ENST00000395143;ENST00000457214;ENST00000447605	T;T;T;T;T;T	0.31769	2.22;2.22;2.22;1.89;1.48;1.48	5.26	0.865	0.19074	.	0.616045	0.12080	U	0.501421	T	0.20536	0.0494	N	0.14661	0.345	0.09310	N	1	D;D	0.58970	0.979;0.984	B;B	0.43123	0.409;0.061	T	0.17077	-1.0381	10	0.87932	D	0	-0.7613	12.6533	0.56774	0.0:0.0:0.422:0.578	.	401;431	Q12794-2;Q12794	.;HYAL1_HUMAN	W	431;431;431;401;249;172	ENSP00000378576:R431W;ENSP00000266031:R431W;ENSP00000346068:R431W;ENSP00000378575:R401W;ENSP00000393358:R249W;ENSP00000390149:R172W	ENSP00000266031:R431W	R	-	1	2	HYAL1	50312935	0.135000	0.22499	0.153000	0.22517	0.213000	0.24496	0.949000	0.29109	0.142000	0.18901	0.313000	0.20887	CGG		0.552	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			3	106	0	0	0	1	0	3	106				
AHNAK2	113146	broad.mit.edu	37	14	105421333	105421333	+	Silent	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:105421333G>A	ENST00000333244.5	-	6	731	c.612C>T	c.(610-612)tcC>tcT	p.S204S	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	204						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCATCGCTGGAAGCCCACT	0.582																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(610-612)tcC>tcT		AHNAK nucleoprotein 2							41.0	44.0	43.0					14																	105421333		1974	4153	6127	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105421333G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.612C>T	14.37:g.105421333G>A							p.S204S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	731	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	204					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.612C>T	CCDS45177.1																																																																																				0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		3	24	0	0	0	1	0	3	24				
MKNK2	2872	broad.mit.edu	37	19	2039675	2039675	+	Silent	SNP	C	C	T	rs376026750		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:2039675C>T	ENST00000591601.1	-	13	1370	c.1335G>A	c.(1333-1335)gcG>gcA	p.A445A	MKNK2_ENST00000250896.3_Silent_p.A445A|MKNK2_ENST00000309340.7_Intron|MKNK2_ENST00000541165.1_Silent_p.A314A|MKNK2_ENST00000591142.1_Intron			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	445					cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGCCGCTGCGCCAGCTTGG	0.692																																						ENST00000250896.3																			0				breast(1)|kidney(3)|large_intestine(3)|lung(3)	10						c.(1333-1335)gcG>gcA		MAP kinase interacting serine/threonine kinase 2		C	,	1,4397		0,1,2198	29.0	28.0	28.0		,1335	1.5	1.0	19		28	1,8591		0,1,4295	no	intron,coding-synonymous	MKNK2	NM_017572.3,NM_199054.2	,	0,2,6493	TT,TC,CC		0.0116,0.0227,0.0154	,	,445/466	2039675	2,12988	2199	4296	6495	SO:0001819	synonymous_variant	2872				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr19:2039675C>T	AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.1335G>A	19.37:g.2039675C>T						MKNK2_ENST00000309340.7_Intron|MKNK2_ENST00000541165.1_Silent_p.A314A|MKNK2_ENST00000591601.1_Silent_p.A445A|MKNK2_ENST00000591142.1_Intron	p.A445A	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1579	-		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)	445					Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	ENST00000591601.1	37	c.1335G>A	CCDS12080.1																																																																																				0.692	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		3	45	0	0	0	1	0	3	45				
POR	5447	broad.mit.edu	37	7	75601767	75601767	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr7:75601767G>A	ENST00000419840.1	+	0	307				POR_ENST00000475509.1_3'UTR|POR_ENST00000461988.1_Silent_p.K75K|POR_ENST00000394893.1_Silent_p.K75K			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	TTGTGGAAAAGATGAAGAAAA	0.537											OREG0018131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000419840.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9								P450 (cytochrome) oxidoreductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)						68.0	69.0	69.0					7																	75601767		1983	4160	6143			5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75601767G>A	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75601767G>A			OREG0018131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1161	POR_ENST00000394893.1_Silent_p.K75K|POR_ENST00000461988.1_Silent_p.K75K|POR_ENST00000475509.1_3'UTR				P16435	NCPR_HUMAN			0	307	+								Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Translation_Start_Site	SNP	ENST00000419840.1	37			.	.	.	.	.	.	.	.	.	.	G	13.66	2.303474	0.40795	.	.	ENSG00000127948	ENST00000447222;ENST00000439297	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	T	0.74891	0.3776	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79822	-0.1641	5	0.87932	D	0	-22.7706	15.3355	0.74250	0.0:0.0:1.0:0.0	.	.	.	.	N	48;22	.	ENSP00000403494:D22N	D	+	1	0	POR	75439703	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.619000	0.67729	2.154000	0.67381	0.591000	0.81541	GAT		0.537	POR-201	KNOWN	basic	protein_coding	protein_coding		NM_000941		7	7	0	0	0	1	0	7	7				
SYCP1	6847	broad.mit.edu	37	1	115401230	115401230	+	Silent	SNP	A	A	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:115401230A>G	ENST00000369522.3	+	6	594	c.354A>G	c.(352-354)aaA>aaG	p.K118K	SYCP1_ENST00000369518.1_Silent_p.K118K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	118					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATAAAAAAATGGAAAGTAA	0.328																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(352-354)aaA>aaG		synaptonemal complex protein 1							77.0	82.0	81.0					1																	115401230		2203	4300	6503	SO:0001819	synonymous_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115401230A>G	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.354A>G	1.37:g.115401230A>G						SYCP1_ENST00000369518.1_Silent_p.K118K	p.K118K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	594	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	118					O14963|Q5VXJ6	Silent	SNP	ENST00000369522.3	37	c.354A>G	CCDS879.1																																																																																				0.328	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		15	59	0	0	0	1	0	15	59				
TXNDC11	51061	broad.mit.edu	37	16	11785796	11785796	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr16:11785796G>A	ENST00000356957.3	-	9	1438	c.1331C>T	c.(1330-1332)aCg>aTg	p.T444M	TXNDC11_ENST00000283033.5_Missense_Mutation_p.T417M|TXNDC11_ENST00000570917.1_5'Flank			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	444					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CGCTGTGATCGTTGGCGGGTC	0.642																																						ENST00000356957.3																			0				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1330-1332)aCg>aTg		thioredoxin domain containing 11							39.0	38.0	38.0					16																	11785796		2197	4300	6497	SO:0001583	missense	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11785796G>A	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1331C>T	16.37:g.11785796G>A	ENSP00000349439:p.Thr444Met					TXNDC11_ENST00000283033.5_Missense_Mutation_p.T417M	p.T444M			Q6PKC3	TXD11_HUMAN			9	1438	-			444					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37	c.1331C>T		.	.	.	.	.	.	.	.	.	.	G	2.450	-0.326602	0.05350	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.42900	0.96;0.96	5.11	-1.93	0.07594	.	1.359010	0.04404	N	0.364786	T	0.20170	0.0485	N	0.08118	0	0.09310	N	1	B;B	0.26547	0.152;0.133	B;B	0.13407	0.009;0.006	T	0.13818	-1.0495	10	0.46703	T	0.11	-10.7999	3.6895	0.08340	0.383:0.0:0.3404:0.2765	.	444;417	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	M	444;417	ENSP00000349439:T444M;ENSP00000283033:T417M	ENSP00000283033:T417M	T	-	2	0	TXNDC11	11693297	0.000000	0.05858	0.015000	0.15790	0.081000	0.17604	0.023000	0.13533	-0.318000	0.08665	-0.415000	0.06103	ACG		0.642	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		16	25	0	0	0	1	0	16	25				
MYH6	4624	broad.mit.edu	37	14	23862627	23862627	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:23862627T>C	ENST00000356287.3	-	22	3058	c.3029A>G	c.(3028-3030)gAt>gGt	p.D1010G	MYH6_ENST00000405093.3_Missense_Mutation_p.D1010G			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1010					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|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)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTGAAGGTCATCCAGGGCCTG	0.512																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(3028-3030)gAt>gGt		myosin, heavy chain 6, cardiac muscle, alpha							155.0	142.0	147.0					14																	23862627		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23862627T>C	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3029A>G	14.37:g.23862627T>C	ENSP00000348634:p.Asp1010Gly					MYH6_ENST00000356287.3_Missense_Mutation_p.D1010G	p.D1010G	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	23	3099	-	all_cancers(95;2.54e-05)		1010					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.3029A>G	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	t	21.0	4.084480	0.76642	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.87887	-2.31;-2.31	5.12	5.12	0.69794	.	.	.	.	.	D	0.93989	0.8075	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94636	0.7826	9	0.56958	D	0.05	.	15.2119	0.73230	0.0:0.0:0.0:1.0	.	1010	P13533	MYH6_HUMAN	G	1010	ENSP00000386041:D1010G;ENSP00000348634:D1010G	ENSP00000348634:D1010G	D	-	2	0	MYH6	22932467	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.718000	0.84743	2.067000	0.61834	0.528000	0.53228	GAT		0.512	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			56	53	0	0	0	1	0	56	53				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	29	0	0	0	1	0	4	29				
OR8B4	283162	broad.mit.edu	37	11	124294595	124294595	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr11:124294595G>A	ENST00000356130.3	-	1	194	c.173C>T	c.(172-174)cCc>cTc	p.P58L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAAGTACATGGGGGTGTGAAG	0.413																																						ENST00000356130.3																			0				endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(172-174)cCc>cTc		olfactory receptor, family 8, subfamily B, member 4							82.0	78.0	80.0					11																	124294595		2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294595G>A	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.173C>T	11.37:g.124294595G>A	ENSP00000348449:p.Pro58Leu						p.P58L	NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	194	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	58					B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.173C>T	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	g	24.9	4.584703	0.86748	.	.	ENSG00000198657	ENST00000356130	T	0.02032	4.49	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000068	T	0.20333	0.0489	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.14727	-1.0462	10	0.87932	D	0	.	17.6029	0.88030	0.0:0.0:1.0:0.0	.	58	Q96RC9	OR8B4_HUMAN	L	58	ENSP00000348449:P58L	ENSP00000348449:P58L	P	-	2	0	OR8B4	123799805	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.311000	0.78958	2.564000	0.86499	0.655000	0.94253	CCC		0.413	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		27	50	0	0	0	1	0	27	50				
MYF5	4617	broad.mit.edu	37	12	81110845	81110845	+	Start_Codon_SNP	SNP	G	G	A			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr12:81110845G>A	ENST00000228644.3	+	1	155	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	1					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TCAGCAGGATGGACGTGATGG	0.642																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(1-3)atG>atA		myogenic factor 5							61.0	55.0	57.0					12																	81110845		2203	4300	6503	SO:0001582	initiator_codon_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81110845G>A		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.3G>A	12.37:g.81110845G>A	ENSP00000228644:p.Met1Ile						p.M1I	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	155	+			1					Q6ISR9	Translation_Start_Site	SNP	ENST00000228644.3	37	c.3G>A	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530590	0.85706	.	.	ENSG00000111049	ENST00000228644	D	0.83837	-1.77	6.17	6.17	0.99709	Myogenic basic muscle-specific protein (2);	0.000000	0.85682	D	0.000000	D	0.91626	0.7354	.	.	.	0.30710	N	0.749419	D	0.53885	0.963	D	0.69824	0.966	D	0.89421	0.3710	9	0.87932	D	0	-7.4535	19.8676	0.96824	0.0:0.0:1.0:0.0	.	1	P13349	MYF5_HUMAN	I	1	ENSP00000228644:M1I	ENSP00000228644:M1I	M	+	3	0	MYF5	79634976	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.356000	0.66052	2.941000	0.99782	0.655000	0.94253	ATG		0.642	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593	Missense_Mutation	28	49	0	0	0	1	0	28	49				
RLN1	6013	broad.mit.edu	37	9	5339680	5339680	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr9:5339680C>G	ENST00000223862.1	-	1	193	c.67G>C	c.(67-69)Gtc>Ctc	p.V23L	RLN1_ENST00000223858.4_Missense_Mutation_p.V23L|RLN1_ENST00000487557.2_5'Flank	NM_006911.2	NP_008842.1	P04808	REL1_HUMAN	relaxin 1	23					female pregnancy (GO:0007565)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		TTGGCCGCGACTGCTCTGGAA	0.517																																						ENST00000223858.4																			0				large_intestine(1)|lung(4)	5						c.(67-69)Gtc>Ctc		relaxin 1							64.0	72.0	69.0					9																	5339680		2196	4299	6495	SO:0001583	missense	6013				female pregnancy|signal transduction	extracellular region	hormone activity	g.chr9:5339680C>G		CCDS6462.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107018	ENSG00000107018		"""Endogenous ligands"""	10026	protein-coding gene	gene with protein product	"""prorelaxin H1"""	179730	"""relaxin 1 (H1)"""				Standard	NM_006911		Approved	H1	uc003zjb.2	P04808	OTTHUMG00000019495	ENST00000223862.1:c.67G>C	9.37:g.5339680C>G	ENSP00000223862:p.Val23Leu					RLN1_ENST00000223862.1_Missense_Mutation_p.V23L	p.V23L			P04808	REL1_HUMAN		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)	1	193	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	23					Q99936|Q9UQJ1	Missense_Mutation	SNP	ENST00000223862.1	37	c.67G>C	CCDS6462.1	.	.	.	.	.	.	.	.	.	.	C	9.374	1.071162	0.20147	.	.	ENSG00000107018	ENST00000223862;ENST00000223858	T;T	0.20738	2.34;2.05	2.85	-4.84	0.03151	Insulin-like (1);	4.817690	0.00508	N	0.000169	T	0.13586	0.0329	L	0.28115	0.83	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.17930	-1.0353	10	0.37606	T	0.19	.	4.7932	0.13259	0.0:0.2772:0.342:0.3808	.	23	P04808	REL1_HUMAN	L	23	ENSP00000223862:V23L;ENSP00000223858:V23L	ENSP00000223858:V23L	V	-	1	0	RLN1	5329680	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.102000	0.10956	-1.147000	0.02851	0.537000	0.68136	GTC		0.517	RLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051617.1			6	106	0	0	0	1	0	6	106				
MEX3A	92312	broad.mit.edu	37	1	156046687	156046689	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:156046687_156046689delGAG	ENST00000532414.2	-	2	1238_1240	c.1239_1241delCTC	c.(1237-1242)tcctct>tct	p.413_414SS>S	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'Flank	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	413	Poly-Ser.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTTGGCggaagaggaggaggagg	0.744																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(1237-1242)tct>tc		mex-3 RNA binding family member A				33,3511		2,29,1741						-6.7	0.3			7	102,7534		2,98,3718	no	coding	MEX3A	NM_001093725.1		4,127,5459	A1A1,A1R,RR		1.3358,0.9312,1.2075				135,11045				SO:0001651	inframe_deletion	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156046687_156046689delGAG	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.1239_1241delCTC	1.37:g.156046696_156046698delGAG	ENSP00000432845:p.Ser415del						p.SS413del	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN			2	1238_1240	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		413			Poly-Ser.			In_Frame_Del	DEL	ENST00000532414.2	37	c.1239_1241delCTC	CCDS53377.1																																																																																				0.744	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		2	4						2	4	---	---	---	---
SHISA3	152573	broad.mit.edu	37	4	42403175	42403178	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:42403175_42403178delCAGA	ENST00000319234.4	+	2	642_645	c.424_427delCAGA	c.(424-429)cagacafs	p.QT142fs		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	142					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CCGCAGCTATCAGACAGAGACCCT	0.608																																						ENST00000319234.4																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						c.(424-429)cafs		shisa family member 3				1,4259		0,1,2129						-0.0	1.0			180	1,8247		0,1,4123	no	frameshift	SHISA3	NM_001080505.1		0,2,6252	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12506				SO:0001589	frameshift_variant	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403175_42403178delCAGA	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.424_427delCAGA	4.37:g.42403179_42403182delCAGA	ENSP00000326445:p.Gln142fs						p.QT142fs	NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN			2	642_645	+			142					A0PJX3|Q96EQ5	Frame_Shift_Del	DEL	ENST00000319234.4	37	c.424_427delCAGA	CCDS33979.1																																																																																				0.608	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		10	519						10	519	---	---	---	---
PDGFRA	5156	broad.mit.edu	37	4	55133717	55133720	+	Splice_Site	DEL	AGAG	AGAG	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:55133717_55133720delAGAG	ENST00000257290.5	+	7	1262_1264	c.931_933delAGAG	c.(931-933)agadel	p.R311fs	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	311					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TTCCCTGTACAGAGAAAGGTTTCA	0.441			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.e7-1		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)																																			SO:0001630	splice_region_variant	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55133717_55133720delAGAG	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.932-1AGAG>-	4.37:g.55133717_55133720delAGAG		TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.311_splice	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		7	1262_1264	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		311					B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Splice_Site	DEL	ENST00000257290.5	37	c.931_splice	CCDS3495.1																																																																																				0.441	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	Frame_Shift_Del	22	92						22	92	---	---	---	---
SLC26A4	5172	broad.mit.edu	37	7	107312689	107312692	+	Splice_Site	DEL	AGTT	AGTT	-	rs111033199		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr7:107312689_107312692delAGTT	ENST00000265715.3	+	4	635_638	c.411_414delAGTT	c.(409-414)tcagtt>tc	p.SV137fs		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	137			S -> P (in PDS). {ECO:0000269|PubMed:15355436}.		chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GACATATCTCAGTTGGTAATTATA	0.338									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46	GRCh37	CM087094|CM981497	SLC26A4	M	rs111033199	c.e4+1		solute carrier family 26 (anion exchanger), member 4																																				SO:0001630	splice_region_variant	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107312689_107312692delAGTT	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.415+1AGTT>-	7.37:g.107312689_107312692delAGTT							p.SV137_splice	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			4	635_638	+			137		S -> P (in PDS).			B7Z266|O43170	Splice_Site	DEL	ENST00000265715.3	37	c.415_splice	CCDS5746.1																																																																																				0.338	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	Frame_Shift_Del	14	57						14	57	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7191540	7191541	+	lincRNA	DEL	CA	CA	-	rs376658666		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:7191540_7191541delCA	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		GGGGTGcacgcacacacacaca	0.53																																						ENST00000606573.1																			0																																																			0							g.chr8:7191540_7191541delCA			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7191550_7191551delCA														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.530	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		10	65						10	65	---	---	---	---
PPP1R16A	84988	broad.mit.edu	37	8	145727173	145727174	+	Frame_Shift_Ins	INS	-	-	C	rs559987709		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:145727173_145727174insC	ENST00000292539.4	+	11	2391_2392	c.1474_1475insC	c.(1474-1476)accfs	p.T492fs	CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Frame_Shift_Ins_p.T492fs|GPT_ENST00000394955.2_5'Flank|GPT_ENST00000528431.1_5'Flank			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	492						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGACACGGTGACCCCCCAGCCT	0.713																																						ENST00000292539.4																			0				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8						c.(1474-1476)cccfs		protein phosphatase 1, regulatory subunit 16A																																				SO:0001589	frameshift_variant	84988					plasma membrane	protein binding	g.chr8:145727173_145727174insC		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.1480dupC	8.37:g.145727179_145727179dupC	ENSP00000292539:p.Thr492fs					PPP1R16A_ENST00000435887.1_Frame_Shift_Ins_p.P492fs	p.P492fs			Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		11	2391_2392	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		492					D3DWM5	Frame_Shift_Ins	INS	ENST00000292539.4	37	c.1474_1475insC	CCDS6429.1																																																																																				0.713	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		2	4						2	4	---	---	---	---
MGAT2	4247	broad.mit.edu	37	14	50089217	50089220	+	Frame_Shift_Del	DEL	CTAA	CTAA	-	rs563513161	byFrequency	TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:50089217_50089220delCTAA	ENST00000305386.2	+	1	1729_1732	c.1231_1234delCTAA	c.(1231-1236)ctaactfs	p.LT411fs	RPL36AL_ENST00000298289.6_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	411					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCCAGAAACTCTAACTATCAGTGA	0.392																																						ENST00000305386.2																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11						c.(1231-1236)ctfs		mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase				13,4251		6,1,2125						2.3	1.0			53	36,8218		18,0,4109	no	frameshift	MGAT2	NM_002408.3		24,1,6234	A1A1,A1R,RR		0.4362,0.3049,0.3914				49,12469				SO:0001589	frameshift_variant	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50089217_50089220delCTAA	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.1231_1234delCTAA	14.37:g.50089217_50089220delCTAA	ENSP00000307423:p.Leu411fs					RP11-649E7.5_ENST00000555043.1_RNA	p.LT411fs	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN			1	1729_1732	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		411					B3KPC5|B3KQM0	Frame_Shift_Del	DEL	ENST00000305386.2	37	c.1231_1234delCTAA	CCDS9690.1																																																																																				0.392	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		29	47						29	47	---	---	---	---
LINC01269	103695436	broad.mit.edu	37	14	71168464	71168466	+	lincRNA	DEL	GAG	GAG	-	rs545127421	byFrequency	TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:71168464_71168466delGAG	ENST00000553682.1	+	0	365																											ggaggaggaagaggaggaggagg	0.586																																						ENST00000553682.1																			0																																																			0							g.chr14:71168464_71168466delGAG																													14.37:g.71168473_71168475delGAG														0	365	+									RNA	DEL	ENST00000553682.1	37																																																																																						0.586	RP6-65G23.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000412549.1			2	4						2	4	---	---	---	---
NPIPA8	101059953	broad.mit.edu	37	16	18441114	18441116	+	Splice_Site	DEL	CAC	CAC	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr16:18441114_18441116delCAC	ENST00000339303.5	-	1	15		c.e1+1					P0DM63	NPIA8_HUMAN	nuclear pore complex interacting protein family, member A8																		CGGCCATACTCACCACTGGGACT	0.709																																						ENST00000339303.5																			0											c.e1+1		nuclear pore complex interacting protein family, member A8																																				SO:0001630	splice_region_variant	101059953							g.chr16:18441114_18441116delCAC		CCDS61865.1	16p12.3	2013-06-11			ENSG00000214940	ENSG00000214940			41983	protein-coding gene	gene with protein product	"""morpheus gene family member 9"""					11586358	Standard	NM_001282511		Approved	LCR16a9		P0DM63	OTTHUMG00000166284	ENST00000339303.5:c.4043+1GTG>-	16.37:g.18441117_18441119delCAC														1	15	-									Splice_Site	DEL	ENST00000339303.5	37																																																																																						0.709	NPIPA8-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			Intron	5	7						5	7	---	---	---	---
NCOR1P1	149934	broad.mit.edu	37	20	26084428	26084428	+	RNA	DEL	C	C	-	rs371146435		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:26084428delC	ENST00000478176.1	-	0	150					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		TCTAATGAAACCTTTAGTAGT	0.313																																						ENST00000478176.1																			0																																																			0							g.chr20:26084428delC	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084428delC								NR_003678.1						0	150	-								A2RUA0	RNA	DEL	ENST00000478176.1	37																																																																																						0.313	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			4	5						4	5	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76939510	76939511	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chrX:76939510_76939511delAA	ENST00000373344.5	-	9	1451_1452	c.1237_1238delTT	c.(1237-1239)ttafs	p.L413fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.L375fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	413					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						CTCGGAATTTAAGTCTTCTTCC	0.361			"""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.(1237-1239)afs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939510_76939511delAA	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.1237_1238delTT	X.37:g.76939510_76939511delAA	ENSP00000362441:p.Leu413fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.L375fs	p.L413fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1451_1452	-			413					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1237_1238delTT	CCDS14434.1																																																																																				0.361	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		187	6						187	6	---	---	---	---
